BLM
MCID: BLM001
MIFTS: 65

Bloom Syndrome (BLM)

Categories: Blood diseases, Fetal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bloom Syndrome

MalaCards integrated aliases for Bloom Syndrome:

Name: Bloom Syndrome 57 12 75 24 53 25 59 74 37 29 13 55 6 44 15 40 72
Bloom-Torre-Machacek Syndrome 12 53 25
Bls 57 53 74
Blm 57 53 74
Bs 57 53 74
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1 57 74
Congenital Telangiectatic Erythema 53 25
Mgrisce1 57 74
Growth Deficiency, Sun-Sensitive, Telangiectatic, Hypo and Hyperpigmented Skin, Predisposition to Malignancy and Chromosomal Instability 53
Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 1; Mgrisce1 57
Congenital Telangiectatic Erythema Syndrome 12
Bloom's Syndrome 25
Bs; Bls 57
Bsyn 59

Characteristics:

Orphanet epidemiological data:

59
bloom syndrome
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Antenatal,Neonatal; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
life-threatening infections
predisposition to neoplasia


HPO:

32
bloom syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:2717
KEGG 37 H01346
MeSH 44 D001816
NCIt 50 C2903
SNOMED-CT 68 4434006
MESH via Orphanet 45 D001816
ICD10 via Orphanet 34 Q82.2
UMLS via Orphanet 73 C0005859
Orphanet 59 ORPHA125
MedGen 42 C0005859
UMLS 72 C0005859

Summaries for Bloom Syndrome

Genetics Home Reference : 25 Bloom syndrome is an inherited disorder characterized by short stature, a skin rash that develops after exposure to the sun, and a greatly increased risk of cancer. People with Bloom syndrome are usually smaller than 97 percent of the population in both height and weight from birth, and they rarely exceed 5 feet tall in adulthood. Affected individuals have skin that is sensitive to sun exposure, and they usually develop a butterfly-shaped patch of reddened skin across the nose and cheeks. A skin rash can also appear on other areas that are typically exposed to the sun, such as the back of the hands and the forearms. Small clusters of enlarged blood vessels (telangiectases) often appear in the rash; telangiectases can also occur in the eyes. Other skin features include patches of skin that are lighter or darker than the surrounding areas (hypopigmentation or hyperpigmentation respectively). These patches appear on areas of the skin that are not exposed to the sun, and their development is not related to the rashes. People with Bloom syndrome have an increased risk of cancer. They can develop any type of cancer, but the cancers arise earlier in life than they do in the general population, and affected individuals often develop more than one type of cancer. Individuals with Bloom syndrome have a high-pitched voice and distinctive facial features including a long, narrow face; a small lower jaw; and prominent nose and ears. Other features can include learning disabilities, an increased risk of diabetes, chronic obstructive pulmonary disease (COPD), and mild immune system abnormalities leading to recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Men with Bloom syndrome usually do not produce sperm and as a result are unable to father children (infertile). Women with the disorder generally have reduced fertility and experience menopause at an earlier age than usual.

MalaCards based summary : Bloom Syndrome, also known as bloom-torre-machacek syndrome, is related to adermatoglyphia and baller-gerold syndrome. An important gene associated with Bloom Syndrome is BLM (BLM RecQ Like Helicase), and among its related pathways/superpathways are Homologous recombination and Fanconi anemia pathway. The drug Cola has been mentioned in the context of this disorder. Affiliated tissues include skin, lung and eye, and related phenotypes are malar flattening and recurrent respiratory infections

Disease Ontology : 12 An autosomal recessive disease characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability.

NIH Rare Diseases : 53 Bloom syndrome is a disorder characterized by a significantly increased risk of cancer and various other features. Signs and symptoms include short stature; sun-sensitive skin changes on the face, hands and/or arms; a high-pitched voice; and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears. Some affected individuals may also have learning disabilities; an increased risk of diabetes; chronic obstructive pulmonary disease (COPD); and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Cancers may include any of those found in the general population, but develop much earlier in life in affected individuals. It is caused by mutations in the BLM gene and is inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.

OMIM : 57 Bloom syndrome is an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability. (210900)

KEGG : 37
Bloom syndrome is a rare autosomal recessive genetic disorder due to mutation in BLM (RecQ protein-like 3). This disease is characterized by dwarfism, photosensitivity, immunodeficiency and a high predisposition to various types of cancer. The function of BLM as a helicase and its role during the regulation of homologous recombination (HR) is well characterized. Recently, the role of BLM as a DNA damage sensor has been revealed.

UniProtKB/Swiss-Prot : 74 Bloom syndrome: An autosomal recessive disorder. It is characterized by proportionate pre- and postnatal growth deficiency, sun-sensitive telangiectatic hypo- and hyperpigmented skin, predisposition to malignancy, and chromosomal instability.

Wikipedia : 75 Bloom syndrome (often abbreviated as BS in literature), is a rare autosomal recessive disorder... more...

GeneReviews: NBK1398

Related Diseases for Bloom Syndrome

Diseases related to Bloom Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 404, show less)
# Related Disease Score Top Affiliating Genes
1 adermatoglyphia 32.6 WRN BLM
2 baller-gerold syndrome 28.9 WRN RECQL5 RECQL4 RECQL
3 fanconi anemia, complementation group a 28.7 WRN RAD51 HELLS FEN1 FANCM BLM
4 rothmund-thomson syndrome 28.5 WRN RECQL5 RECQL4 RECQL HELLS BLM
5 werner syndrome 28.4 WRN RECQL5 RECQL4 RECQL HELLS FEN1
6 xeroderma pigmentosum, variant type 28.3 RECQL RAD51 LIG1 HELLS FEN1 ATM
7 bare lymphocyte syndrome, type i 12.3
8 bare lymphocyte syndrome, type ii 12.3
9 microcephaly, growth restriction, and increased sister chromatid exchange 2 11.7
10 inherited cancer-predisposing syndrome 11.6
11 nijmegen breakage syndrome 11.6
12 progressive familial heart block, type ia 11.5
13 hypocalcemia, autosomal dominant 1 11.5
14 blind loop syndrome 11.4
15 leber congenital amaurosis 2 11.3
16 wilms tumor predisposition 11.3
17 bartter disease 11.2
18 hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate 11.2
19 blepharitis 11.2
20 autosomal recessive disease 10.6
21 cardiac arrest 10.5
22 leprosy 3 10.5
23 hansen's disease 10.5
24 telangiectasis 10.4
25 hepatitis 10.4
26 premature aging 10.4
27 acrocallosal syndrome 10.4
28 spondylosis 10.4 WRN HELLS
29 ataxia-telangiectasia 10.4
30 lymphosarcoma 10.3
31 ataxia and polyneuropathy, adult-onset 10.3
32 exanthem 10.3
33 esophageal cancer 10.3
34 diffuse large b-cell lymphoma 10.3
35 hepatitis a 10.2
36 autoimmune disease 10.2
37 dwarfism 10.2
38 fanconi anemia, complementation group q 10.2 RAD51 FANCM
39 viral hepatitis 10.2
40 herpes simplex 10.2
41 hemorrhoid 10.2
42 wilms tumor 5 10.2
43 pulmonary fibrosis, idiopathic 10.2
44 bilateral breast cancer 10.2 RAD51 ATM
45 fanconi anemia, complementation group t 10.1 RAD51 FANCM
46 migraine with or without aura 1 10.1
47 coronary heart disease 1 10.1
48 immunodeficiency, common variable, 10 10.1
49 dilated cardiomyopathy 10.1
50 bladder cancer 10.1
51 ventricular fibrillation, paroxysmal familial, 1 10.1
52 leukemia, acute lymphoblastic 3 10.1
53 lepromatous leprosy 10.1
54 spinal cord injury 10.1
55 gastric cancer 10.1
56 myelodysplastic syndrome 10.1
57 deficiency anemia 10.1
58 lymphoma 10.1
59 b-cell lymphoma 10.1
60 fanconi anemia, complementation group r 10.1 WRN RAD51 FANCM
61 atrial standstill 1 10.1
62 hepatocellular carcinoma 10.1
63 human immunodeficiency virus type 1 10.1
64 membranous nephropathy 10.1
65 glomerulonephritis 10.1
66 endophthalmitis 10.1
67 amyloidosis 10.1
68 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 10.1
69 colorectal cancer 10.1
70 hypogonadism 10.1
71 hypogonadotropism 10.1
72 microcephaly 10.1
73 fibrosis of extraocular muscles, congenital, 1 10.1
74 suppressor of tumorigenicity 3 10.1
75 cervical cancer 10.1
76 lung disease 10.1
77 congenital hypoplastic anemia 10.1 RAD51 FANCM
78 colon adenocarcinoma 10.0
79 arteries, anomalies of 10.0
80 hyperlipoproteinemia, type iii 10.0
81 angina pectoris 10.0
82 heart disease 10.0
83 coronary artery anomaly 10.0
84 vaccinia 10.0
85 liver cirrhosis 10.0
86 hemophilia 10.0
87 back pain 10.0
88 syncope 10.0
89 rapidly involuting congenital hemangioma 10.0
90 leukemia, chronic lymphocytic 10.0
91 osteoporosis 10.0
92 triiodothyronine receptor auxiliary protein 10.0
93 lymphoma, hodgkin, classic 10.0
94 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
95 neuroblastoma 1 10.0
96 yemenite deaf-blind hypopigmentation syndrome 10.0
97 lymphoma, non-hodgkin, familial 10.0
98 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
99 bone mineral density quantitative trait locus 8 10.0
100 bone mineral density quantitative trait locus 15 10.0
101 familial adenomatous polyposis 10.0
102 spastic cerebral palsy 10.0
103 marginal zone b-cell lymphoma 10.0
104 follicular lymphoma 10.0
105 pain agnosia 10.0
106 brucellosis 10.0
107 neutropenia 10.0
108 diarrhea 10.0
109 cholera 10.0
110 neuritis 10.0
111 cerebral palsy 10.0
112 dyspepsia 10.0
113 idiopathic interstitial pneumonia 10.0
114 pulmonary fibrosis 10.0
115 bronchitis 10.0
116 severe combined immunodeficiency 10.0
117 chronic fatigue syndrome 10.0
118 stomatitis 10.0
119 chromosomal triplication 10.0
120 leukemia, b-cell, chronic 10.0
121 tremor 10.0
122 nondisjunction 10.0
123 ovarian cancer 10.0
124 sister chromatid exchange, frequency of 10.0
125 leukemia, acute myeloid 10.0
126 cutaneous lupus erythematosus 10.0
127 adult t-cell leukemia 10.0
128 leukemia 10.0
129 adenocarcinoma 10.0
130 infertility 10.0
131 t-cell leukemia 10.0
132 erythrokeratoderma ''en cocardes'' 10.0
133 leukemia, t-cell, chronic 10.0
134 rare genetic skin disease 10.0
135 basal cell nevus syndrome 9.9
136 hair whorl 9.9
137 li-fraumeni syndrome 9.9
138 tuberous sclerosis 1 9.9
139 enhanced s-cone syndrome 9.9
140 fanconi anemia, complementation group b 9.9
141 gastrointestinal stromal tumor 9.9
142 fanconi anemia, complementation group j 9.9
143 li-fraumeni syndrome 2 9.9
144 lymphoplasmacytic lymphoma 9.9
145 adenoid cystic carcinoma 9.9
146 respiratory failure 9.9
147 tuberous sclerosis 9.9
148 rectum cancer 9.9
149 cystic teratoma 9.9
150 dyskeratosis congenita 9.9
151 interstitial lung disease 9.9
152 rhabdomyosarcoma 9.9
153 embryonal carcinoma 9.9
154 fibrosarcoma 9.9
155 skin carcinoma 9.9
156 choriocarcinoma 9.9
157 seminoma 9.9
158 cataract 9.9
159 influenza 9.9
160 dentinogenesis imperfecta type 2 9.9
161 heavy metal poisoning 9.9
162 oral cancer 9.9
163 bone sarcoma 9.9
164 huntington disease 9.9
165 medulloblastoma 9.9
166 porokeratosis 1, multiple types 9.9
167 hemochromatosis, type 1 9.9
168 polycythemia vera 9.9
169 ataxia-telangiectasia-like disorder 1 9.9
170 bacterial infectious disease 9.9
171 oligohydramnios 9.9
172 azoospermia 9.9
173 norwegian scabies 9.9
174 porokeratosis 9.9
175 myopathy 9.9
176 rhinitis 9.9
177 unilateral retinoblastoma 9.9
178 conjunctivitis 9.9
179 scabies 9.9
180 polycythemia 9.9
181 diabetes mellitus 9.9
182 hypoglycemia 9.9
183 growth hormone deficiency 9.9
184 myelodysplastic syndrome with excess blasts 9.9
185 primary agammaglobulinemia 9.9
186 autosomal trisomy 9.9
187 refractory anemia 9.9
188 intestinal polyposis syndrome 9.9
189 gastroesophageal reflux 9.8
190 hypertension, essential 9.8
191 motion sickness 9.8
192 otitis media 9.8
193 papillomatosis, confluent and reticulated 9.8
194 retinoblastoma 9.8
195 neural tube defects 9.8
196 down syndrome 9.8
197 australia antigen 9.8
198 cystic fibrosis 9.8
199 osteogenic sarcoma 9.8
200 sickle cell anemia 9.8
201 progressive familial heart block, type ib 9.8
202 pulmonary disease, chronic obstructive 9.8
203 coronary heart disease 2 9.8
204 hepatitis c virus 9.8
205 major affective disorder 8 9.8
206 major affective disorder 9 9.8
207 leptin deficiency or dysfunction 9.8
208 spastic paraplegia, intellectual disability, nystagmus, and obesity 9.8
209 brugada syndrome 9.8
210 lissencephaly 9.8
211 inflammatory bowel disease 9.8
212 colitis 9.8
213 inguinal hernia 9.8
214 thyroid gland anaplastic carcinoma 9.8
215 portal hypertension 9.8
216 hand, foot and mouth disease 9.8
217 pertussis 9.8
218 chlamydia 9.8
219 tetanus 9.8
220 diphtheria 9.8
221 patau syndrome 9.8
222 nephrotic syndrome 9.8
223 alcoholic hepatitis 9.8
224 von willebrand's disease 9.8
225 uveitis 9.8
226 right bundle branch block 9.8
227 typhoid fever 9.8
228 toxic shock syndrome 9.8
229 oral candidiasis 9.8
230 candidiasis 9.8
231 hepatitis b 9.8
232 vulvovaginitis 9.8
233 craniosynostosis 9.8
234 lipid metabolism disorder 9.8
235 bipolar disorder 9.8
236 turner syndrome 9.8
237 mouth disease 9.8
238 biliary dyskinesia 9.8
239 familial retinoblastoma 9.8
240 proliferative glomerulonephritis 9.8
241 poliomyelitis 9.8
242 juvenile rheumatoid arthritis 9.8
243 myocarditis 9.8
244 measles 9.8
245 vasculitis 9.8
246 neuropathy 9.8
247 rubella 9.8
248 acute myocardial infarction 9.8
249 soft tissue sarcoma 9.8
250 anoxia 9.8
251 chronic pain 9.8
252 paresthesia 9.8
253 differentiated thyroid carcinoma 9.8
254 rare surgical neurologic disease 9.8
255 cardiogenic shock 9.8
256 thyroid carcinoma 9.8
257 pfeiffer syndrome 9.8
258 cardiac conduction defect 9.8
259 systemic lupus erythematosus 9.8
260 rheumatoid arthritis 9.8
261 schistosoma mansoni infection, susceptibility/ 9.8
262 ocular motor apraxia 9.8
263 aging 9.8
264 prostatic hyperplasia, benign 9.8
265 helicobacter pylori infection 9.8
266 spermatogenic failure 3 9.8
267 myocardial infarction 9.8
268 cyanosis, transient neonatal 9.8
269 dengue virus 9.8
270 mantle cell lymphoma 9.8
271 post-cardiac arrest syndrome 9.8
272 bone disease 9.8
273 endometrial hyperplasia 9.8
274 asthenopia 9.8
275 thymus lymphoma 9.8
276 borderline leprosy 9.8
277 viral pneumonia 9.8
278 gastric ulcer 9.8
279 amnestic disorder 9.8
280 prostatic hypertrophy 9.8
281 microcytic anemia 9.8
282 erysipelas 9.8
283 functional diarrhea 9.8
284 epidural abscess 9.8
285 adult respiratory distress syndrome 9.8
286 polycystic ovary syndrome 9.8
287 bronchial disease 9.8
288 hemosiderosis 9.8
289 neurogenic bladder 9.8
290 dysentery 9.8
291 vertebrobasilar insufficiency 9.8
292 gout 9.8
293 schistosomiasis 9.8
294 epicondylitis 9.8
295 dermatomycosis 9.8
296 thrombocytopenia 9.8
297 keratosis 9.8
298 jaw cancer 9.8
299 hyperinsulinism 9.8
300 gastroenteritis 9.8
301 iron metabolism disease 9.8
302 prostatic adenoma 9.8
303 acute pancreatitis 9.8
304 newcastle disease 9.8
305 pulmonary tuberculosis 9.8
306 periarthritis 9.8
307 acute kidney failure 9.8
308 teratoma 9.8
309 breast adenocarcinoma 9.8
310 skin disease 9.8
311 secondary syphilis 9.8
312 syphilis 9.8
313 hyperglycemia 9.8
314 hemolytic anemia 9.8
315 congestive heart failure 9.8
316 combined t cell and b cell immunodeficiency 9.8
317 spinal stenosis 9.8
318 osteoarthritis 9.8
319 arthritis 9.8
320 ulcerative colitis 9.8
321 macroglobulinemia 9.8
322 fasciitis 9.8
323 plantar fasciitis 9.8
324 irritable bowel syndrome 9.8
325 hordeolum 9.8
326 cocaine dependence 9.8
327 hypereosinophilic syndrome 9.8
328 48,xyyy 9.8
329 acute respiratory distress syndrome 9.8
330 fetal and neonatal alloimmune thrombocytopenia 9.8
331 wallerian degeneration 9.8
332 fainting 9.8
333 headache 9.8
334 posttransplant acute limbic encephalitis 9.8
335 glomerular disease 9.8
336 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency 9.8
337 burkitt lymphoma 9.8
338 breast cancer 9.8
339 polykaryocytosis inducer 9.8
340 prader-willi syndrome 9.8
341 prostate cancer 9.8
342 protoporphyria, erythropoietic, 1 9.8
343 silver-russell syndrome 9.8
344 thrombophilia due to thrombin defect 9.8
345 dubowitz syndrome 9.8
346 fanconi anemia, complementation group c 9.8
347 fanconi anemia, complementation group d2 9.8
348 immune deficiency disease 9.8
349 pancreatic cancer 9.8
350 isolated growth hormone deficiency, type ia 9.8
351 ouabain resistance 9.8
352 premature ovarian failure 1 9.8
353 polydactyly 9.8
354 microvascular complications of diabetes 1 9.8
355 nasopharyngeal carcinoma 9.8
356 fanconi anemia, complementation group i 9.8
357 mutagen sensitivity 9.8
358 microvascular complications of diabetes 2 9.8
359 microvascular complications of diabetes 5 9.8
360 leukemia, acute lymphoblastic 9.8
361 pachyonychia congenita 3 9.8
362 helix syndrome 9.8
363 congenital hypothyroidism 9.8
364 primary pigmented nodular adrenocortical disease 9.8
365 mucositis 9.8
366 lymphocytic leukemia 9.8
367 premature menopause 9.8
368 vaginal cancer 9.8
369 allergic hypersensitivity disease 9.8
370 male infertility 9.8
371 acute leukemia 9.8
372 hereditary hemorrhagic telangiectasia 9.8
373 background diabetic retinopathy 9.8
374 gonadal dysgenesis 9.8
375 hypothyroidism 9.8
376 squamous cell carcinoma 9.8
377 basal cell carcinoma 9.8
378 bronchiolitis obliterans 9.8
379 bronchiolitis 9.8
380 cockayne syndrome 9.8
381 gastric adenocarcinoma 9.8
382 lynch syndrome 9.8
383 liver disease 9.8
384 tubular adenocarcinoma 9.8
385 human immunodeficiency virus infectious disease 9.8
386 adenoma 9.8
387 mitochondrial metabolism disease 9.8
388 collagen disease 9.8
389 oropharynx cancer 9.8
390 myeloid leukemia 9.8
391 lupus erythematosus 9.8
392 learning disability 9.8
393 diabetes insipidus 9.8
394 bronchiectasis 9.8
395 alopecia areata 9.8
396 alopecia 9.8
397 47,xyy 9.8
398 familial monosomy 7 syndrome 9.8
399 mitochondrial disorders 9.8
400 diencephalic syndrome 9.8
401 maternal uniparental disomy 9.8
402 uv-sensitive syndrome 9.8 RAD51 LIG1 FEN1
403 acquired generalized lipodystrophy 9.8 WRN RECQL5
404 rapadilino syndrome 9.2 WRN RECQL5 RECQL4 RECQL HELLS

Graphical network of the top 20 diseases related to Bloom Syndrome:



Diseases related to Bloom Syndrome

Symptoms & Phenotypes for Bloom Syndrome

Human phenotypes related to Bloom Syndrome:

59 32 (showing 58, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
3 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
4 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
5 dolichocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000268
6 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
7 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
8 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
9 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
10 narrow face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000275
11 abnormality of chromosome stability 59 32 hallmark (90%) Very frequent (99-80%) HP:0003220
12 diarrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0002014
13 spotty hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005585
14 facial telangiectasia in butterfly midface distribution 59 32 hallmark (90%) Very frequent (99-80%) HP:0005598
15 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
16 cutaneous photosensitivity 59 32 frequent (33%) Frequent (79-30%) HP:0000992
17 high pitched voice 59 32 frequent (33%) Frequent (79-30%) HP:0001620
18 hypoplasia of the zygomatic bone 32 frequent (33%) HP:0010669
19 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0006101
20 hyperhidrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000975
21 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
22 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
23 intellectual disability, mild 59 32 occasional (7.5%) Occasional (29-5%) HP:0001256
24 protruding ear 59 32 occasional (7.5%) Occasional (29-5%) HP:0000411
25 sacral dimple 59 32 occasional (7.5%) Occasional (29-5%) HP:0000960
26 hypopigmented skin patches 59 32 occasional (7.5%) Occasional (29-5%) HP:0001053
27 hand polydactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001161
28 azoospermia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000027
29 reduced number of teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0009804
30 lymphoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002665
31 acute leukemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002488
32 decreased circulating iga level 59 32 occasional (7.5%) Occasional (29-5%) HP:0002720
33 decreased circulating igg level 59 32 occasional (7.5%) Occasional (29-5%) HP:0004315
34 neoplasm of the gastrointestinal tract 59 32 occasional (7.5%) Occasional (29-5%) HP:0007378
35 decreased fertility in females 59 32 occasional (7.5%) Occasional (29-5%) HP:0000868
36 decreased circulating total igm 59 32 occasional (7.5%) Occasional (29-5%) HP:0002850
37 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
38 type ii diabetes mellitus 32 HP:0005978
39 neoplasm 59 Very frequent (99-80%)
40 telangiectasia of the skin 59 Frequent (79-30%)
41 cryptorchidism 32 HP:0000028
42 specific learning disability 32 HP:0001328
43 decreased antibody level in blood 59 Occasional (29-5%)
44 clinodactyly of the 5th finger 32 HP:0004209
45 abnormality of the face 59 Frequent (79-30%)
46 cheekbone underdevelopment 59 Frequent (79-30%)
47 leukemia 32 HP:0001909
48 abnormality of the nose 59 Very frequent (99-80%)
49 bronchiectasis 32 HP:0002110
50 prominent nose 32 HP:0000448
51 abnormality of the skin 59 Very frequent (99-80%)
52 hypertrichosis 32 HP:0000998
53 cafe-au-lait spot 32 HP:0000957
54 syndactyly 32 HP:0001159
55 chronic lung disease 32 HP:0006528
56 spotty hypopigmentation 32 HP:0005590
57 chromosome breakage 32 HP:0040012
58 agenesis of maxillary lateral incisor 32 HP:0000690

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
microcephaly
dolichocephaly

Neoplasia:
leukemia
lymphoma
squamous cell carcinoma
adenocarcinoma
hypersensitivity to chemotherapy

Head And Neck Nose:
prominent nose

Skeletal Hands:
syndactyly
polydactyly
fifth finger clinodactyly

Head And Neck Ears:
prominent ears

Neurologic Central Nervous System:
learning disability
mild mental retardation in some

Growth Other:
growth failure
prenatal onset growth retardation

Head And Neck Teeth:
absent upper lateral incisors

Voice:
high-pitched

Laboratory Abnormalities:
high sister chromatid exchange (sce) rate
sce normal in heterozygotes
increased chromosomal breakage
decreased iga, igg, igm

Genitourinary Internal Genitalia Male:
cryptorchidism
azoospermia

Respiratory Airways:
bronchiectasis

Skin Nails Hair Skin:
hypertrichosis
spotty hyperpigmentation
spotty hypopigmentation
photosensitivity
cafe-au-lait spots
more
Respiratory Lung:
chronic lung disease

Head And Neck Face:
malar hypoplasia
narrow

Endocrine Features:
noninsulin-dependent diabetes mellitus

Growth Height:
average adult male height 151cm
average adult female height 144cm

Genitourinary Internal Genitalia Female:
reduced fertility in females

Immunology:
immunoglobulin deficiency (iga, igg, igm)
impaired lymphocyte proliferation response to malignancy

Clinical features from OMIM:

210900

GenomeRNAi Phenotypes related to Bloom Syndrome according to GeneCards Suite gene sharing:

26 (showing 3, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.72 ATM BLM FANCM FEN1 LIG1 LIG3
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.72 ATM BLM FANCM FEN1 LIG1 LIG3
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 ATM BLM FANCM FEN1 LIG1 LIG3

MGI Mouse Phenotypes related to Bloom Syndrome:

46 (showing 10, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 ATM BLM FANCM FEN1 HELLS LIG1
2 embryo MP:0005380 10.03 ATM BLM FEN1 HELLS LIG1 LIG3
3 growth/size/body region MP:0005378 10.02 ATM BLM FEN1 HELLS LIG1 LIG3
4 endocrine/exocrine gland MP:0005379 10.01 ATM FANCM FEN1 HELLS LIG1 PML
5 hematopoietic system MP:0005397 9.97 ATM BLM FANCM FEN1 HELLS LIG1
6 adipose tissue MP:0005375 9.88 ATM FEN1 HELLS RECQL4 WRN
7 immune system MP:0005387 9.86 ATM BLM FEN1 HELLS LIG1 PML
8 mortality/aging MP:0010768 9.7 ATM BLM FANCM FEN1 HELLS LIG1
9 integument MP:0010771 9.63 ATM BLM HELLS LIG1 RECQL4 WRN
10 neoplasm MP:0002006 9.23 ATM BLM FANCM FEN1 LIG1 PML

Drugs & Therapeutics for Bloom Syndrome

Drugs for Bloom Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 1, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cola

Interventional clinical trials:

(showing 2, show less)
# Name Status NCT ID Phase Drugs
1 ECOG Laboratory Study: Mapping Interactive Cancer Susceptibility Loci Completed NCT00003329
2 Pathology of Helicases and Premature Aging: Study by Derivation of hiPS Completed NCT03898817

Search NIH Clinical Center for Bloom Syndrome

Cochrane evidence based reviews: bloom syndrome

Genetic Tests for Bloom Syndrome

Genetic tests related to Bloom Syndrome:

# Genetic test Affiliating Genes
1 Bloom Syndrome 29 BLM

Anatomical Context for Bloom Syndrome

MalaCards organs/tissues related to Bloom Syndrome:

41
Skin, Lung, Eye, Breast, Bone, Testes, Myeloid

Publications for Bloom Syndrome

Articles related to Bloom Syndrome:

(showing 694, show less)
# Title Authors PMID Year
1
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry. 38 4 8 71
9837821 1998
2
Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. 9 38 4 71
17407155 2007
3
Prevalence of Bloom syndrome heterozygotes among Ashkenazi Jews. 38 8 71
10090915 1999
4
Characterization of a new BLM mutation associated with a topoisomerase II alpha defect in a patient with Bloom's syndrome. 9 8 71
9285778 1997
5
The Bloom's syndrome gene product is homologous to RecQ helicases. 9 8 71
7585968 1995
6
A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene. 8 71
9482582 1998
7
Bloom syndrome and maternal uniparental disomy for chromosome 15. 38 4 8
7912890 1994
8
Bloom's syndrome. I. Genetical and clinical observations in the first twenty-seven patients. 4 8
5770175 1969
9
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 38 71
19888064 2009
10
Three new BLM gene mutations associated with Bloom syndrome. 9 38 4
18471088 2008
11
Bloom Syndrome 38 71
20301572 2006
12
Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel. 9 38 4
11876000 2002
13
Successful pregnancy in a woman with Bloom syndrome. 38 8
11477604 2001
14
Chromosomal aberrations in Bloom syndrome patients with myeloid malignancies. 38 8
11454428 2001
15
Cancer predisposition caused by elevated mitotic recombination in Bloom mice. 38 8
11101838 2000
16
Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome. 38 8
10678659 2000
17
Transfection of BLM into cultured bloom syndrome cells reduces the sister-chromatid exchange rate toward normal. 38 8
10521302 1999
18
Bloom's syndrome protein, BLM, colocalizes with replication protein A in meiotic prophase nuclei of mammalian spermatocytes. 9 8
10318934 1999
19
Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom's syndrome gene. 9 8
9808625 1998
20
Physical mapping of the bloom syndrome region by the identification of YAC and P1 clones from human chromosome 15 band q26.1. 38 8
8661112 1996
21
Molecular genetics of Bloom's syndrome. 9 8
8875252 1996
22
Somatic intragenic recombination within the mutated locus BLM can correct the high sister-chromatid exchange phenotype of Bloom syndrome cells. 38 8
7485150 1995
23
Linkage disequilibrium between the FES, D15S127, and BLM loci in Ashkenazi Jews with Bloom syndrome. 38 8
8079989 1994
24
Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1. 38 8
8022833 1994
25
Elevated sister chromatid exchange phenotype of Bloom syndrome cells is complemented by human chromosome 15. 38 8
1518822 1992
26
Purification and properties of the uracil DNA glycosylase from Bloom's syndrome. 9 8
1742335 1991
27
A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells. 9 8
1881902 1991
28
Bloom syndrome: a single complementation group defines patients of diverse ethnic origin. 38 8
3163468 1988
29
Immunological lesions in human uracil DNA glycosylase: association with Bloom syndrome. 38 8
3353381 1988
30
Structural alterations of DNA ligase I in Bloom syndrome. 38 8
3479778 1987
31
Wilms tumor in three patients with Bloom syndrome. 38 8
3040954 1987
32
Evidence for chromosome instability in vivo in Bloom syndrome: increased numbers of micronuclei in exfoliated cells. 38 8
4065890 1985
33
Functional deficiency of fibroblasts heterozygous for Bloom syndrome as specific manifestation of the primary defect. 38 8
7325155 1981
34
Elevated spontaneous mutation rate in Bloom syndrome fibroblasts. 38 8
6942420 1981
35
Mutagen-induced sister chromatid exchange rate in Bloom syndrome remains unaltered in the presence of Bloom corrective factor. 38 8
6799385 1981
36
Rate of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by co-cultivation with normal fibroblasts. 38 8
7386453 1980
37
Questionable bloom syndrome in a Negro girl. 38 8
5052410 1972
38
Health supervision for people with Bloom syndrome. 38 4
30055079 2018
39
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. 38 4
30057030 2018
40
Loss of RMI2 Increases Genome Instability and Causes a Bloom-Like Syndrome. 38 4
27977684 2016
41
Cellular defects caused by hypomorphic variants of the Bloom syndrome helicase gene BLM. 38 4
26788541 2016
42
A novel frameshift mutation in BLM gene associated with high sister chromatid exchanges (SCE) in heterozygous family members. 38 4
25129257 2014
43
A common nonsense mutation of the BLM gene and prostate cancer risk and survival. 38 4
24096176 2013
44
Human RECQ helicases: roles in DNA metabolism, mutagenesis and cancer biology. 38 4
20934517 2010
45
Carrier screening in individuals of Ashkenazi Jewish descent. 71
18197057 2008
46
Wilms Tumor Predisposition 71
20301471 2003
47
DNA helicase Srs2 disrupts the Rad51 presynaptic filament. 8
12748644 2003
48
BLM heterozygosity and the risk of colorectal cancer. 71
12242432 2002
49
Role of the Bloom's syndrome helicase in maintenance of genome stability. 9 4
11356154 2001
50
Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population. 38 4
9758720 1998
51
High frequency of a common Bloom syndrome Ashkenazi mutation among Jews of Polish origin. 38 4
10464606 1998
52
Accelerated aging and nucleolar fragmentation in yeast sgs1 mutants. 8
9271578 1997
53
Differential induction of transcriptionally active p53 following UV or ionizing radiation: defects in chromosome instability syndromes? 8
8242748 1993
54
Bloom syndrome: a mendelian prototype of somatic mutational disease. 38 4
8231788 1993
55
Triple autosomal trisomy in a pregnancy at risk for Bloom's syndrome. 8
1951436 1991
56
Bloom's syndrome: the German experience. 8
1809225 1991
57
Bloom's syndrome in an Iranian Jewish male. 8
1809226 1991
58
Diabetes mellitus in a young man with Bloom's syndrome. 8
2282719 1990
59
Human DNA ligase I cDNA: cloning and functional expression in Saccharomyces cerevisiae. 8
2204063 1990
60
Elevated superoxide dismutase in Bloom's syndrome: a genetic condition of oxidative stress. 8
2766291 1989
61
Bloom's syndrome. XIV. The disorder in Japan. 8
2721026 1989
62
Evidence for increased in vivo mutation and somatic recombination in Bloom's syndrome. 8
2911598 1989
63
Defective DNA ligase I in Bloom's syndrome cells. Simultaneous analysis using immunoblotting and the ligase-[32P]AMP adduct assay. 8
3192533 1988
64
Bloom's syndrome. Clinical features and immunologic abnormalities of four patients. 8
3263039 1988
65
Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. 8
2884728 1987
66
DNA ligase I deficiency in Bloom's syndrome. 8
3808031 1987
67
Altered DNA ligase I activity in Bloom's syndrome cells. 8
3808032 1987
68
Background allelic variants in normal hemopoietic cells and Bloom's syndrome erythrocytes and the possible implication of somatic crossingover. 8
3971316 1985
69
Bloom's syndrome: in vitro correction of the sister chromatid exchange rate by normal cells. 8
6722755 1984
70
Bloom's syndrome XI. Progress report for 1983. 8
6705251 1984
71
Bloom's syndrome: evidence for an increased mutation frequency in vivo. 8
6879180 1983
72
Provisional assignment of TPI, GPI, and PEPD to Chinese hamster autosomes 8 and 9: a cytogenetic basis for functional haploidy of an autosomal linkage group in CHO cells. 8
6825466 1983
73
A CHO-cell strain having hypersensitivity to mutagens, a defect in DNA strand-break repair, and an extraordinary baseline frequency of sister-chromatid exchange. 8
6889677 1982
74
Pregnancy in Bloom's syndrome. 8
7273457 1981
75
A high incidence of mitotic chiasmata in endoreduplicated Bloom's syndrome cells. 8
7327564 1981
76
Mitotic recombination and segregation of satellites in Bloom's syndrome. 8
7261713 1981
77
Bloom's syndrome in a Japanese boy with lymphoma. 8
7438493 1980
78
Bloom's syndrome in a Japanese girl. 8
7363500 1980
79
Leukemia in a black child with Bloom's syndrome: somatic recombination as a possible mechanism for neoplasia. 8
291469 1979
80
Normalisation of sister chromatid exchange frequencies in Bloom's syndrome by euploid cell hybridisation. 8
450130 1979
81
Bloom's syndrome. VII. Progress report for 1978. 8
436333 1979
82
Suppression of the frequencies of sister chromatid exchanges in Bloom's syndrome fibroblasts by co-cultivation with Chinese hamster cells. 8
730162 1978
83
Bloom's syndrome. VI. The disorder in Israel and an estimation of the gene frequency in the Ashkenazim. 8
930922 1977
84
Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes. 8
868871 1977
85
Abnormal immune responses of Bloom's syndrome lymphocytes in vitro. 8
124745 1975
86
A manyfold increase in sister chromatid exchanges in Bloom's syndrome lymphocytes. 8
4140506 1974
87
Bloom's syndrome and Fanconi's anemia: demonstration of two distinctive patterns of chromosome disruption and rearrangement. 8
4464237 1974
88
Bloom's syndrome. III. Analysis of the chromosome aberration characteristic of this disorder. 8
4448109 1974
89
Bloom's syndrome. The syndrome of telangiectatic erythema and growth retardation. 8
5923432 1966
90
Chromosomal breakage and acute leukemia in congenital telangiectatic erythema and stunted growth. 8
5911744 1966
91
The syndrome of congenital telangiectatic erythema and stunted growth. 8
5901336 1966
92
CHROMOSOMAL BREAKAGE IN A RARE AND PROBABLY GENETICALLY DETERMINED SYNDROME OF MAN. 8
14263770 1965
93
Dwarfism with skin manifestations. 8
13979851 1963
94
Committee Opinion No. 691: Carrier Screening for Genetic Conditions. 4
28225426 2017
95
Bloom's Syndrome: Clinical Spectrum, Molecular Pathogenesis, and Cancer Predisposition. 4
28232778 2017
96
Nonsense mutation p.Q548X in BLM, the gene mutated in Bloom's syndrome, is associated with breast cancer in Slavic populations. 4
23225144 2013
97
Roles of Werner syndrome protein in protection of genome integrity. 9 38
20075015 2010
98
Structural basis for DNA strand separation by the unconventional winged-helix domain of RecQ helicase WRN. 9 38
20159463 2010
99
Loss of Bloom syndrome protein destabilizes human gene cluster architecture. 9 38
19542097 2009
100
Bloom syndrome helicase stimulates RAD51 DNA strand exchange activity through a novel mechanism. 9 38
19632996 2009
101
The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities. 9 38
19465921 2009
102
Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer, a case-control study. 9 38
19432957 2009
103
Topo IIIalpha and BLM act within the Fanconi anemia pathway in response to DNA-crosslinking agents. 9 38
19738377 2009
104
BLAP18/RMI2, a novel OB-fold-containing protein, is an essential component of the Bloom helicase-double Holliday junction dissolvasome. 9 38
18923083 2008
105
RecQ family helicases in genome stability: lessons from gene disruption studies in DT40 cells. 9 38
18719387 2008
106
The fission yeast BLM homolog Rqh1 promotes meiotic recombination. 9 38
18562672 2008
107
Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases. 9 38
18430459 2008
108
Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1A. 9 38
18401830 2008
109
Phosphorylation-dependent interactions of BLM and 53BP1 are required for their anti-recombinogenic roles during homologous recombination. 9 38
17984114 2008
110
Emergence of a DNA-damage response network consisting of Fanconi anaemia and BRCA proteins. 9 38
17768402 2007
111
Endogenous gamma-H2AX-ATM-Chk2 checkpoint activation in Bloom's syndrome helicase deficient cells is related to DNA replication arrested forks. 9 38
17634426 2007
112
The arginine finger of the Bloom syndrome protein: its structural organization and its role in energy coupling. 9 38
17766252 2007
113
A positive involvement of RecQL4 in UV-induced S-phase arrest. 9 38
17184169 2006
114
The Werner and Bloom syndrome proteins catalyze regression of a model replication fork. 9 38
17115688 2006
115
Redundancy of DNA helicases in p53-mediated apoptosis. 9 38
16288211 2006
116
Function of recQ family helicase in genome stability. 9 38
17623900 2006
117
Competition between the DNA unwinding and strand pairing activities of the Werner and Bloom syndrome proteins. 9 38
16412221 2006
118
Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome. 4
16763388 2006
119
Bloom syndrome ortholog HIM-6 maintains genomic stability in C. elegans. 9 38
16181657 2005
120
Werner protein protects nonproliferating cells from oxidative DNA damage. 9 38
16287861 2005
121
Physical and functional mapping of the replication protein a interaction domain of the werner and bloom syndrome helicases. 9 38
15965237 2005
122
Biochemical analysis of the DNA unwinding and strand annealing activities catalyzed by human RECQ1. 9 38
15899892 2005
123
Intra-nuclear trafficking of the BLM helicase to DNA damage-induced foci is regulated by SUMO modification. 9 38
15829507 2005
124
Regulation of homologous integration in yeast by the DNA repair proteins Ku70 and RecQ. 9 38
15803320 2005
125
The N-terminal region of the Schizosaccharomyces pombe RecQ helicase, Rqh1p, physically interacts with Topoisomerase III and is required for Rqh1p function. 9 38
15702347 2005
126
Coinheritance of BRCA1 and BRCA2 mutations with Fanconi anemia and Bloom syndrome mutations in Ashkenazi Jewish population: possible role in risk modification for cancer development. 9 38
15726604 2005
127
Human Bloom protein stimulates flap endonuclease 1 activity by resolving DNA secondary structure. 9 38
15579905 2005
128
The interaction site of Flap Endonuclease-1 with WRN helicase suggests a coordination of WRN and PCNA. 9 38
16326861 2005
129
A major role for mitotic CDC2 kinase inactivation in the establishment of the mitotic DNA damage checkpoint. 9 38
15604258 2004
130
Biochemical characterization of the ataxia-telangiectasia mutated (ATM) protein from human cells. 9 38
15177184 2004
131
Clinical features of Bloom syndrome and function of the causative gene, BLM helicase. 9 38
15137905 2004
132
The Sgs1 helicase regulates chromosome synapsis and meiotic crossing over. 9 38
14614820 2003
133
Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. 9 38
12952869 2003
134
The human Bloom syndrome gene suppresses the DNA replication and repair defects of yeast dna2 mutants. 9 38
12826610 2003
135
Functional relation among RecQ family helicases RecQL1, RecQL5, and BLM in cell growth and sister chromatid exchange formation. 9 38
12724411 2003
136
Analysis of helicase activity and substrate specificity of Drosophila RECQ5. 9 38
12595564 2003
137
Telomere-binding protein TRF2 binds to and stimulates the Werner and Bloom syndrome helicases. 9 38
12181313 2002
138
[Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases]. 9 38
11979727 2002
139
Chromosome instability syndromes. 9 38
11640873 2001
140
Functional interaction of p53 and BLM DNA helicase in apoptosis. 9 38
11399766 2001
141
The N-terminal internal region of BLM is required for the formation of dots/rod-like structures which are associated with SUMO-1. 9 38
11500040 2001
142
Selective cleavage of BLM, the bloom syndrome protein, during apoptotic cell death. 9 38
11154689 2001
143
Sterility of Drosophila with mutations in the Bloom syndrome gene--complementation by Ku70. 9 38
11283371 2001
144
Unwinding of a DNA triple helix by the Werner and Bloom syndrome helicases. 9 38
11110789 2001
145
Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain. 9 38
10965492 2000
146
hRAD54 gene and 1p high-resolution deletion-mapping analyses in oligodendrogliomas. 9 38
10640146 2000
147
BLM, the Bloom's syndrome protein, varies during the cell cycle in its amount, distribution, and co-localization with other nuclear proteins. 4
11173860 2000
148
DNA helicases, genomic instability, and human genetic disease. 9 38
11701636 2000
149
Mendelian diseases among Roman Jews: implications for the origins of disease alleles. 9 38
10599695 1999
150
A role for PML and the nuclear body in genomic stability. 9 38
10637504 1999
151
Localization of the Bloom syndrome helicase to punctate nuclear structures and the nuclear matrix and regulation during the cell cycle: comparison with the Werner's syndrome helicase. 9 38
10569803 1999
152
The three-dimensional structure of the HRDC domain and implications for the Werner and Bloom syndrome proteins. 9 38
10647186 1999
153
Rothmund-thomson syndrome responsible gene, RECQL4: genomic structure and products. 9 38
10552928 1999
154
Evolution of the RECQ family of helicases: A drosophila homolog, Dmblm, is similar to the human bloom syndrome gene. 9 38
10049920 1999
155
Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation. 9 38
10464671 1999
156
Nucleolar localization of the Werner syndrome protein in human cells. 9 38
9618508 1998
157
Characterization of the human homologue of RAD54: a gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors. 9 38
9192813 1997
158
Werner syndrome: entering the helicase era. 9 38
8976161 1996
159
Characterization of the XRCC1-DNA ligase III complex in vitro and its absence from mutant hamster cells. 9 38
8532526 1995
160
Normal V(D)J coding junction formation in DNA ligase I deficiency syndromes. 9 38
8254190 1994
161
DNA ligase III is the major high molecular weight DNA joining activity in SV40-transformed human fibroblasts: normal levels of DNA ligase III activity in Bloom syndrome cells. 9 38
8265359 1993
162
Bloom's syndrome. XII. Report from the Registry for 1987. 4
2647324 1989
163
Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity. 4
13206391 1954
164
Centromere-Proximal Meiotic Crossovers in Drosophila melanogaster Are Suppressed by Both Highly-Repetitive Heterochromatin and Proximity to the Centromere. 38
31345993 2019
165
Assessment of Potential Clinical Role for Exome Sequencing in Schizophrenia. 38
31112269 2019
166
Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS. 38
30936263 2019
167
RMI1 contributes to DNA repair and to the tolerance to camptothecin. 38
30676768 2019
168
Skin Cancer Associated Genodermatoses: A Literature Review. 38
30653245 2019
169
Keeping ribosomal DNA intact: a repeating challenge. 38
30556094 2019
170
Discovery of Isaindigotone Derivatives as Novel Bloom's Syndrome Protein (BLM) Helicase Inhibitors That Disrupt the BLM/DNA Interactions and Regulate the Homologous Recombination Repair. 38
30827110 2019
171
NMR Investigation of the Interaction between the RecQ C-Terminal Domain of Human Bloom Syndrome Protein and G-Quadruplex DNA from the Human c-Myc Promoter. 38
30639410 2019
172
A tumor suppressive DNA translocase named FANCM. 38
30714416 2019
173
Bloom Syndrome Protein Activates AKT and PRAS40 in Prostate Cancer Cells. 38
31210839 2019
174
Pancreatic cancer in bloom syndrome. 38
31210938 2019
175
Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge. 38
29794356 2019
176
Single nucleotide polymorphism (SNP) based chromosomal microarray analysis provides clues and insights into disease mechanisms. 38
30693591 2019
177
Bloom syndrome with myelodysplastic syndrome that was converted into acute myeloid leukaemia, with new ophthalmologic manifestations: the first report from Syria. 38
30410776 2018
178
Clinicopathologic characterization of breast carcinomas in patients with non-BRCA germline mutations: results from a single institution's high-risk population. 38
29958926 2018
179
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. 38
30193137 2018
180
miR-522-3p Promotes Tumorigenesis in Human Colorectal Cancer via Targeting Bloom Syndrome Protein. 38
29386092 2018
181
Tumor Syndromes Predisposing to Osteosarcoma. 38
29668499 2018
182
RECQ helicase disease and related progeroid syndromes: RECQ2018 meeting. 38
29752965 2018
183
BLM Potentiates c-Jun Degradation and Alters Its Function as an Oncogenic Transcription Factor. 38
30044990 2018
184
[Clinical and molecular analysis of two Chinese siblings with Bloom syndrome]. 38
29783825 2018
185
Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families. 38
29610394 2018
186
Genetic mapping of species differences via in vitro crosses in mouse embryonic stem cells. 38
29563231 2018
187
Nanocarrier Composed of Magnetite Core Coated with Three Polymeric Shells Mediates LCS-1 Delivery for Synthetic Lethal Therapy of BLM-Defective Colorectal Cancer Cells. 38
29451980 2018
188
MRN complex-dependent recruitment of ubiquitylated BLM helicase to DSBs negatively regulates DNA repair pathways. 38
29523790 2018
189
Interaction of replication protein A with two acidic peptides from human Bloom syndrome protein. 38
29388204 2018
190
Bloom syndrome does not always present with sun-sensitive facial erythema. 38
29056561 2018
191
BLM helicase suppresses recombination at G-quadruplex motifs in transcribed genes. 38
29348659 2018
192
Genes, Proteins, and Biological Pathways Preventing Chromothripsis. 38
29564828 2018
193
Human RecQL4 helicase plays multifaceted roles in the genomic stability of normal and cancer cells. 38
29080750 2018
194
Characterization of the EBV-Induced Persistent DNA Damage Response. 38
29194355 2017
195
Clinical Report: Warsaw Breakage Syndrome with small radii and fibulae. 38
28960803 2017
196
RecQ helicase BLM regulates prostate cancer cell proliferation and apoptosis. 38
28943928 2017
197
Structural Insight into BLM Recognition by TopBP1. 38
28919440 2017
198
A New BRCT Binding Mode in TopBP1-BLM Helicase Interaction. 38
28978405 2017
199
Purification and enzymatic characterization of Gallus gallus BLM helicase. 38
28338731 2017
200
Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein. 38
28792069 2017
201
Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management. 38
28529015 2017
202
Successful treatment of mature B-cell lymphoma with rituximab-based chemotherapy in a patient with Bloom syndrome. 38
27966805 2017
203
Role for RIF1-interacting partner DDX1 in BLM recruitment to DNA double-strand breaks. 38
28544931 2017
204
DNA2-An Important Player in DNA Damage Response or Just Another DNA Maintenance Protein? 38
28718810 2017
205
Cytidine deaminase deficiency impairs sister chromatid disjunction by decreasing PARP-1 activity. 38
28463527 2017
206
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. 38
28572264 2017
207
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. 38
28063379 2017
208
Cytidine Deaminase Deficiency Reveals New Therapeutic Opportunities against Cancer. 38
27601591 2017
209
A helical bundle in the N-terminal domain of the BLM helicase mediates dimer and potentially hexamer formation. 38
28228481 2017
210
First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis. 38
28611551 2017
211
Aberrant BLM cytoplasmic expression associates with DNA damage stress and hypersensitivity to DNA-damaging agents in colorectal cancer. 38
27169843 2017
212
A prosurvival DNA damage-induced cytoplasmic interferon response is mediated by end resection factors and is limited by Trex1. 38
28279982 2017
213
The Werner Syndrome Helicase Coordinates Sequential Strand Displacement and FEN1-Mediated Flap Cleavage during Polymerase δ Elongation. 38
27849570 2017
214
A Recessive Genetic Screen for Components of the RNA Interference Pathway Performed in Mouse Embryonic Stem Cells. 38
28674805 2017
215
Bloom Syndrome Helicase Promotes Meiotic Crossover Patterning and Homolog Disjunction. 38
27989672 2017
216
Mutator Phenotype and DNA Double-Strand Break Repair in BLM Helicase-Deficient Human Cells. 38
27601585 2016
217
Understanding photodermatoses associated with defective DNA repair: Syndromes with cancer predisposition. 38
27745641 2016
218
[Bloom syndrome. Clinical manifestations and cromosomal study in a Mexican child]. 38
27861482 2016
219
Bromodeoxyuridine does not contribute to sister chromatid exchange events in normal or Bloom syndrome cells. 38
27185886 2016
220
A balanced pyrimidine pool is required for optimal Chk1 activation to prevent ultrafine anaphase bridge formation. 38
27383768 2016
221
FANCD2 limits BLM-dependent telomere instability in the alternative lengthening of telomeres pathway. 38
27427384 2016
222
Bloom syndrome without typical sun-sensitive skin lesions in three Slovak siblings. 38
26340805 2016
223
DNA End Resection: Facts and Mechanisms. 38
27240470 2016
224
Oral Cancer-related Inherited Cancer Syndromes: A Comprehensive Review. 38
27484606 2016
225
FancJ (Brip1) loss-of-function allele results in spermatogonial cell depletion during embryogenesis and altered processing of crossover sites during meiotic prophase I in mice. 38
26490168 2016
226
The Werner syndrome RECQ helicase targets G4 DNA in human cells to modulate transcription. 38
26984941 2016
227
Intrachromosomal recombination between highly diverged DNA sequences is enabled in human cells deficient in Bloom helicase. 38
27100209 2016
228
BLM promotes the activation of Fanconi Anemia signaling pathway. 38
27083049 2016
229
Burkitt lymphoma in a child with Bloom syndrome. 38
26774895 2016
230
The SMC-5/6 Complex and the HIM-6 (BLM) Helicase Synergistically Promote Meiotic Recombination Intermediate Processing and Chromosome Maturation during Caenorhabditis elegans Meiosis. 38
27010650 2016
231
23andMe: a new two-sided data-banking market model. 38
27059184 2016
232
Mitotic phosphorylation of Bloom helicase at Thr182 is required for its proteasomal degradation and maintenance of chromosomal stability. 38
26028025 2016
233
Direct-to-consumer genetic testing: Perspectives on its value in healthcare. 38
26517013 2016
234
A case of Bloom syndrome with uncommon clinical manifestations confirmed on genetic testing. 38
26919505 2016
235
Adenocarcinoma of the Right Colon in a Patient with Bloom Syndrome. 38
27597923 2016
236
Bloom syndrome complex promotes FANCM recruitment to stalled replication forks and facilitates both repair and traverse of DNA interstrand crosslinks. 38
28058110 2016
237
Knockout mouse production assisted by Blm knockdown. 38
26598326 2016
238
Plasmodium falciparum Werner homologue is a nuclear protein and its biochemical activities reside in the N-terminal region. 38
25824666 2016
239
Accumulation and Phosphorylation of RecQ-Mediated Genome Instability Protein 1 (RMI1) at Serine 284 and Serine 292 during Mitosis. 38
26556339 2015
240
Relationships between putative G-quadruplex-forming sequences, RecQ helicases, and transcription. 38
26449372 2015
241
Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer. 38
26358404 2015
242
BLM helicase facilitates telomere replication during leading strand synthesis of telomeres. 38
26195664 2015
243
A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility. 38
26247052 2015
244
Pyrimidine Pool Disequilibrium Induced by a Cytidine Deaminase Deficiency Inhibits PARP-1 Activity, Leading to the Under Replication of DNA. 38
26181065 2015
245
Role of chromosomal aberrations in clonal diversity and progression of acute myeloid leukemia. 38
25673237 2015
246
23andme obtains permission to market Bloom syndrome test. 38
26017705 2015
247
System-wide Analysis of SUMOylation Dynamics in Response to Replication Stress Reveals Novel Small Ubiquitin-like Modified Target Proteins and Acceptor Lysines Relevant for Genome Stability. 38
25755297 2015
248
Multiple mechanisms limit meiotic crossovers: TOP3α and two BLM homologs antagonize crossovers in parallel to FANCM. 38
25825745 2015
249
Cooperation of Blm and Mus81 in development, fertility, genomic integrity and cancer suppression. 38
24858046 2015
250
Unwinding forward and sliding back: an intermittent unwinding mode of the BLM helicase. 38
25765643 2015
251
The nuclease FAN1 is involved in DNA crosslink repair in Arabidopsis thaliana independently of the nuclease MUS81. 38
25779053 2015
252
Transcriptomic and Protein Expression Analysis Reveals Clinicopathological Significance of Bloom Syndrome Helicase (BLM) in Breast Cancer. 38
25673821 2015
253
Tailoring heated intraperitoneal mitomycin C for peritoneal metastases originating from colorectal carcinoma: a translational approach to improve survival. 38
25668003 2015
254
TopBP1 interacts with BLM to maintain genome stability but is dispensable for preventing BLM degradation. 38
25794620 2015
255
Bloom syndrome with extensive pulmonary involvement in a child. 38
25814763 2015
256
RECQL5 and BLM exhibit divergent functions in cells defective for the Fanconi anemia pathway. 38
25520194 2015
257
Letter to the editor: Dubowitz syndrome: a unique clinical disorder that is often confused with Bloom syndrome. 38
25559542 2015
258
Drosophila FANCM helicase prevents spontaneous mitotic crossovers generated by the MUS81 and SLX1 nucleases. 38
25205745 2014
259
Mechanistic insight into the interaction of BLM helicase with intra-strand G-quadruplex structures. 38
25418155 2014
260
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980-1982delAA) in two unrelated Tunisian families with Bloom syndrome. 38
24118499 2014
261
Kindler's syndrome: a report of five cases in a family. 38
25327923 2014
262
Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. 38
25105364 2014
263
Bloom syndrome. 38
24602044 2014
264
Regulation of gene expression by the BLM helicase correlates with the presence of G-quadruplex DNA motifs. 38
24958861 2014
265
The X chromosome: does it have a role in Bloom syndrome, a genomic instability disorder? 38
25341612 2014
266
Missense mutations in pyruvate kinase M2 promote cancer metabolism, oxidative endurance, anchorage independence, and tumor growth in a dominant negative manner. 38
24492614 2014
267
Solution structure of the RecQ C-terminal domain of human Bloom syndrome protein. 38
24435566 2014
268
Bloom syndrome radials are predominantly non-homologous and are suppressed by phosphorylated BLM. 38
25766002 2014
269
[Ocular manifestations in hereditary diseases with defects in DNA repair]. 38
25345296 2014
270
RECQ DNA helicases and osteosarcoma. 38
24924172 2014
271
Characterization of the Caenorhabditis elegans HIM-6/BLM helicase: unwinding recombination intermediates. 38
25036527 2014
272
Structural mechanisms of human RecQ helicases WRN and BLM. 38
25400656 2014
273
Coregulation of FANCA and BRCA1 in human cells. 38
25161863 2014
274
Sources and structures of mitotic crossovers that arise when BLM helicase is absent in Drosophila. 38
24172129 2014
275
TopBP1 controls BLM protein level to maintain genome stability. 38
24239288 2013
276
Discrepant outcomes in two Brazilian patients with Bloom syndrome and Wilms' tumor: two case reports. 38
24377487 2013
277
Structure of the RecQ C-terminal domain of human Bloom syndrome protein. 38
24257077 2013
278
Monopolar spindle 1 (MPS1) protein-dependent phosphorylation of RecQ-mediated genome instability protein 2 (RMI2) at serine 112 is essential for BLM-Topo III α-RMI1-RMI2 (BTR) protein complex function upon spindle assembly checkpoint (SAC) activation during mitosis. 38
24108125 2013
279
A role for BLM in double-strand break repair pathway choice: prevention of CtIP/Mre11-mediated alternative nonhomologous end-joining. 38
24095737 2013
280
Synthesis and SAR studies of 5-(pyridin-4-yl)-1,3,4-thiadiazol-2-amine derivatives as potent inhibitors of Bloom helicase. 38
24012121 2013
281
Bloom syndrome in short children born small for gestational age: a challenging diagnosis. 38
23928670 2013
282
Two replication fork maintenance pathways fuse inverted repeats to rearrange chromosomes. 38
24013173 2013
283
Acute myeloid leukaemia after treatment for acute lymphoblastic leukaemia in girl with Bloom syndrome. 38
24932421 2013
284
Enhancement of microhomology-mediated genomic rearrangements by transient loss of mouse Bloom syndrome helicase. 38
23908384 2013
285
Bloom syndrome: report of two cases in siblings. 38
22998028 2013
286
Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis. 38
23552953 2013
287
FANCD2 regulates BLM complex functions independently of FANCI to promote replication fork recovery. 38
23658231 2013
288
Scaffolding protein SPIDR/KIAA0146 connects the Bloom syndrome helicase with homologous recombination repair. 38
23509288 2013
289
Ubiquitin-dependent recruitment of the Bloom syndrome helicase upon replication stress is required to suppress homologous recombination. 38
23708797 2013
290
FE65 regulates and interacts with the Bloom syndrome protein in dynamic nuclear spheres - potential relevance to Alzheimer's disease. 38
23572515 2013
291
Human RECQL5: guarding the crossroads of DNA replication and transcription and providing backup capability. 38
23627586 2013
292
Microhomology-mediated End Joining and Homologous Recombination share the initial end resection step to repair DNA double-strand breaks in mammalian cells. 38
23610439 2013
293
Proton beam therapy for malignancy in Bloom syndrome. 38
23443610 2013
294
On BLM helicase in recombination-mediated telomere maintenance. 38
23268311 2013
295
RIF1 counteracts BRCA1-mediated end resection during DNA repair. 38
23486525 2013
296
Human RECQ1 interacts with Ku70/80 and modulates DNA end-joining of double-strand breaks. 38
23650516 2013
297
Biological activities of phosphocitrate: a potential meniscal protective agent. 38
23936839 2013
298
Probing Genome Maintenance Functions of human RECQ1. 38
24688722 2013
299
Interplay between structure-specific endonucleases for crossover control during Caenorhabditis elegans meiosis. 38
23874210 2013
300
Pigmentary lesions in patients with increased DNA damage due to defective DNA repair. 38
23522627 2012
301
Evolution of an MCM complex in flies that promotes meiotic crossovers by blocking BLM helicase. 38
23224558 2012
302
Non-Bloom syndrome-associated partial and total loss-of-function variants of BLM helicase. 38
23129629 2012
303
[Pigmentary lesions in patients with increased DNA damage due to defective DNA repair]. 38
23260522 2012
304
Escherichia coli RecG functionally suppresses human Bloom syndrome phenotypes. 38
23110454 2012
305
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles. 38
23028338 2012
306
Recruitment and retention dynamics of RECQL5 at DNA double strand break sites. 38
22633600 2012
307
Rare hereditary diseases with defects in DNA-repair. 38
22436139 2012
308
High prevalence and breast cancer predisposing role of the BLM c.1642 C>T (Q548X) mutation in Russia. 38
21815139 2012
309
Defining the molecular interface that connects the Fanconi anemia protein FANCM to the Bloom syndrome dissolvasome. 38
22392978 2012
310
The Werner syndrome protein is distinguished from the Bloom syndrome protein by its capacity to tightly bind diverse DNA structures. 38
22272300 2012
311
More than just skin deep: faciocutaneous clues to genetic syndromes with malignancies. 38
22707513 2012
312
Loss of the bloom syndrome helicase increases DNA ligase 4-independent genome rearrangements and tumorigenesis in aging Drosophila. 38
22183041 2011
313
Bloom syndrome complicated by colonic cancer in a young Tunisian woman. 38
21778134 2011
314
Three structure-selective endonucleases are essential in the absence of BLM helicase in Drosophila. 38
22022278 2011
315
Processing of homologous recombination repair intermediates by the Sgs1-Top3-Rmi1 and Mus81-Mms4 complexes. 38
21876385 2011
316
The evolving world of protein-G-quadruplex recognition: a medicinal chemist's perspective. 38
21549174 2011
317
The Werner and Bloom syndrome proteins help resolve replication blockage by converting (regressed) holliday junctions to functional replication forks. 38
21736299 2011
318
Interhomolog recombination and loss of heterozygosity in wild-type and Bloom syndrome helicase (BLM)-deficient mammalian cells. 38
21730139 2011
319
Augmented cell death with Bloom syndrome helicase deficiency. 38
21567087 2011
320
Pyrimidine pool imbalance induced by BLM helicase deficiency contributes to genetic instability in Bloom syndrome. 38
21712816 2011
321
Pediatric leukemia predisposition syndromes: clues to understanding leukemogenesis. 38
21665176 2011
322
A PiggyBac-based recessive screening method to identify pluripotency regulators. 38
21533166 2011
323
Depletion of the bloom syndrome helicase stimulates homology-dependent repair at double-strand breaks in human chromosomes. 38
21300576 2011
324
Structural and functional characterization of the N-terminal domain of human Rad51D. 38
21111057 2011
325
Dermatological manifestations of inherited cancer syndromes in children. 38
20973772 2011
326
Critical interaction domains between bloom syndrome protein and RAD51. 38
21113733 2011
327
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report. 38
21272302 2011
328
Inhibition of helicase activity by a small molecule impairs Werner syndrome helicase (WRN) function in the cellular response to DNA damage or replication stress. 38
21220316 2011
329
Time to bloom. 38
21050475 2010
330
Structure and function of the regulatory HRDC domain from human Bloom syndrome protein. 38
20639533 2010
331
Cytokinesis failure occurs in Fanconi anemia pathway-deficient murine and human bone marrow hematopoietic cells. 38
20921626 2010
332
Solution structure of the HRDC domain of human Bloom syndrome protein BLM. 38
20739603 2010
333
The DNA/RNA-dependent RNA polymerase QDE-1 generates aberrant RNA and dsRNA for RNAi in a process requiring replication protein A and a DNA helicase. 38
20957187 2010
334
Hyper telomere recombination accelerates replicative senescence and may promote premature aging. 38
20798040 2010
335
Chk1-dependent constitutive phosphorylation of BLM helicase at serine 646 decreases after DNA damage. 38
20719863 2010
336
Rif1 provides a new DNA-binding interface for the Bloom syndrome complex to maintain normal replication. 38
20711169 2010
337
Structure and cellular roles of the RMI core complex from the bloom syndrome dissolvasome. 38
20826341 2010
338
The human WRN and BLM RecQ helicases differentially regulate cell proliferation and survival after chemotherapeutic DNA damage. 38
20663905 2010
339
Conserved helicase domain of human RecQ4 is required for strand annealing-independent DNA unwinding. 38
20451470 2010
340
Complex karyotype defined by molecular cytogenetic FISH and M-FISH in an infant with acute megakaryoblastic leukemia and neurofibromatosis. 38
20620601 2010
341
Dominant negative mutations affect oligomerization of human pyruvate kinase M2 isozyme and promote cellular growth and polyploidy. 38
20304929 2010
342
Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice. 38
20299287 2010
343
Photosensitivity skin disorders in childhood. 38
21302730 2010
344
Super-sized deletions: improved transposon excision screens using a mus309 mutant background. 38
20081362 2010
345
The Bloom syndrome protein limits the lethality associated with RAD51 deficiency. 38
20215422 2010
346
Bloom syndrome in two siblings. 38
20537070 2010
347
Colorectal cancer and polymorphisms in DNA repair genes WRN, RMI1 and BLM. 9
19945966 2010
348
Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential. 9
19966276 2010
349
Irradiated Blm-deficient mice are a highly tumor prone model for analysis of a broad spectrum of hematologic malignancies. 38
19709744 2010
350
In vivo analysis of Drosophila BLM helicase function during DNA double-strand gap repair. 38
20225150 2010
351
Rothmund-Thomson syndrome. 38
20113479 2010
352
A recessive genetic screen for components of the RNA interference pathway in mouse embryonic stem cells. 38
20686942 2010
353
Lupus-like histopathology in bloom syndrome: reexamining the clinical and histologic implications of photosensitivity. 38
19820394 2009
354
Removal of the bloom syndrome DNA helicase extends the utility of imprecise transposon excision for making null mutations in Drosophila. 38
19687136 2009
355
Telomeric D-loops containing 8-oxo-2'-deoxyguanosine are preferred substrates for Werner and Bloom syndrome helicases and are bound by POT1. 38
19734539 2009
356
Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent. 38
19815695 2009
357
A polymorphism in Werner syndrome gene is associated with breast cancer susceptibility in Chinese women. 9
19205873 2009
358
From the rarest to the most common: insights from progeroid syndromes into skin cancer and aging. 38
19387478 2009
359
BLM helicase stimulates the ATPase and chromatin-remodeling activities of RAD54. 38
19671661 2009
360
Bloom DNA helicase facilitates homologous recombination between diverged homologous sequences. 38
19661064 2009
361
Progeroid syndromes and UV-induced oxidative DNA damage. 38
19675546 2009
362
Bloom syndrome with lung involvement. 38
20442845 2009
363
Replication stress induces sister-chromatid bridging at fragile site loci in mitosis. 9
19465922 2009
364
Genomic instability and cancer: lessons from analysis of Bloom's syndrome. 9
19442250 2009
365
Differential behavior of missense mutations in the intersubunit contact domain of the human pyruvate kinase M2 isozyme. 38
19265196 2009
366
Identification and analysis of new proteins involved in the DNA damage response network of Fanconi anemia and Bloom syndrome. 38
19245838 2009
367
BLM helicase measures DNA unwound before switching strands and hRPA promotes unwinding reinitiation. 38
19165145 2009
368
An unusual case of Bloom syndrome presenting with basal cell carcinoma. 38
19076197 2009
369
Deficiency of Bloom syndrome helicase activity is radiomimetic. 38
18787401 2008
370
RMI, a new OB-fold complex essential for Bloom syndrome protein to maintain genome stability. 38
18923082 2008
371
Small ubiquitin-related modifier (SUMO) binding determines substrate recognition and paralog-selective SUMO modification. 38
18708356 2008
372
A novel role for Rad17 in homologous recombination. 38
19168994 2008
373
More complexity to the Bloom's syndrome complex. 9
18923071 2008
374
The Bloom's syndrome helicase (BLM) interacts physically and functionally with p12, the smallest subunit of human DNA polymerase delta. 9
18682526 2008
375
Inhibition of DNA helicase, ATPase and DNA-binding activities of E. coli RecQ helicase by chemotherapeutic agents. 38
18296713 2008
376
Surveillance and treatment of malignancy in Bloom syndrome. 38
18359209 2008
377
The Rb/E2F pathway and Ras activation regulate RecQ helicase gene expression. 9
18215118 2008
378
Genetic and environmental factors in head and neck cancer genesis. 38
18569329 2008
379
Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated? 38
18264947 2008
380
Different patterns of in vivo pro-oxidant states in a set of cancer- or aging-related genetic diseases. 38
18053816 2008
381
Vertebrate WRNIP1 and BLM are required for efficient maintenance of genome stability. 38
18379138 2008
382
Protein expression of BLM gene and its apoptosis sensitivity in hematopoietic tumor cell strains. 38
18278455 2008
383
Prevalence of breast and colorectal cancer in Ashkenazi Jewish carriers of Fanconi anemia and Bloom syndrome. 38
18210922 2007
384
Novel pro- and anti-recombination activities of the Bloom's syndrome helicase. 9
18003860 2007
385
Human RECQ1 is a DNA damage responsive protein required for genotoxic stress resistance and suppression of sister chromatid exchanges. 38
18074021 2007
386
Functional interactions between BLM and XRCC3 in the cell. 9
17923529 2007
387
Oxidative stress biomarkers in four Bloom syndrome (BS) patients and in their parents suggest in vivo redox abnormalities in BS phenotype. 38
17678887 2007
388
Lens opacities in Bloom syndrome: case report and review of the literature. 38
17896317 2007
389
Synthetic lethality of Drosophila in the absence of the MUS81 endonuclease and the DmBlm helicase is associated with elevated apoptosis. 38
17603121 2007
390
Multiple functions of Drosophila BLM helicase in maintenance of genome stability. 38
17507683 2007
391
Werner syndrome protein prevents DNA breaks upon chromatin structure alteration. 38
17521388 2007
392
BLM is required for faithful chromosome segregation and its localization defines a class of ultrafine anaphase bridges. 9
17599064 2007
393
BLM helicase-dependent and -independent roles of 53BP1 during replication stress-mediated homologous recombination. 38
17591918 2007
394
Absence of p53 enhances growth defects and etoposide sensitivity of human cells lacking the Bloom syndrome helicase BLM. 38
17630856 2007
395
Stage II squamous cell carcinoma of the vagina in a patient with Bloom syndrome: a case report. 38
17694984 2007
396
Activation of a novel pathway involving Mms1 and Rad59 in sgs1 cells. 38
17399687 2007
397
Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population. 38
17384215 2007
398
Differential expression of Werner and Bloom syndrome genes in the peripheral blood of HIV-1 infected patients. 38
17321898 2007
399
Structural and functional analyses of disease-causing missense mutations in Bloom syndrome protein. 38
17878217 2007
400
Selected genetic disorders affecting Ashkenazi Jewish families. 38
17149032 2007
401
[Hereditary photodermatoses]. 38
17075715 2006
402
Embryonic stem cells deficient for Brca2 or Blm exhibit divergent genotoxic profiles that support opposing activities during homologous recombination. 38
16997331 2006
403
[DNA helicases and human diseases]. 38
17156731 2006
404
Mechanisms by which Bloom protein can disrupt recombination intermediates of Okazaki fragment maturation. 38
16950766 2006
405
[Bloom syndrome]. 38
17022574 2006
406
BLM is an early responder to DNA double-strand breaks. 38
16876111 2006
407
The Bloom syndrome helicase is a substrate of the mitotic Cdc2 kinase. 38
16880735 2006
408
Interaction of Werner and Bloom syndrome genes with p53 in familial breast cancer. 38
16501249 2006
409
MPS1-dependent mitotic BLM phosphorylation is important for chromosome stability. 38
16864798 2006
410
Carcinogens induce genome-wide loss of heterozygosity in normal stem cells without persistent chromosomal instability. 38
16868089 2006
411
Polymorphisms in the glucocerebrosidase gene and pseudogene urge caution in clinical analysis of Gaucher disease allele c.1448T>C (L444P). 38
16887033 2006
412
Tumor suppressor gene identification using retroviral insertional mutagenesis in Blm-deficient mice. 38
16858412 2006
413
Accumulation of FFA-1, the Xenopus homolog of Werner helicase, and DNA polymerase delta on chromatin in response to replication fork arrest. 38
16798775 2006
414
4-nitroquinoline-1-oxide induces the formation of cellular topoisomerase I-DNA cleavage complexes. 38
16818625 2006
415
Bloom syndrome, genomic instability and cancer: the SOS-like hypothesis. 38
15950375 2006
416
[Chromosome instability syndromes]. 38
16875167 2006
417
A double Holliday junction dissolvasome comprising BLM, topoisomerase IIIalpha, and BLAP75. 38
16595695 2006
418
Enhanced gene targeting efficiency by siRNA that silences the expression of the Bloom syndrome gene in human cells. 38
16611240 2006
419
Mendelian genetic causes of the short child born small for gestational age. 38
16615302 2006
420
Evidence that the S.cerevisiae Sgs1 protein facilitates recombinational repair of telomeres during senescence. 38
16428246 2006
421
Enzymatic mechanism of the WRN helicase/nuclease. 38
16793395 2006
422
Mobile D-loops are a preferred substrate for the Bloom's syndrome helicase. 9
16670433 2006
423
Analysis of the DNA unwinding activity of RecQ family helicases. 9
16793396 2006
424
New strategy for comprehensive analysis of gene functions in embryonic stem cells. 9
16903413 2006
425
[Risk factors for pediatric malignant bone tumors]. 38
16324620 2005
426
Phosphorylation of BLM, dissociation from topoisomerase IIIalpha, and colocalization with gamma-H2AX after topoisomerase I-induced replication damage. 9
16199871 2005
427
[Expression of BLM mRNA in six tumor cell strains]. 9
16277851 2005
428
Kindler syndrome. 38
16394462 2005
429
POT1 stimulates RecQ helicases WRN and BLM to unwind telomeric DNA substrates. 38
16030011 2005
430
The HRDC domain of BLM is required for the dissolution of double Holliday junctions. 9
15990871 2005
431
RecQ family members combine strand pairing and unwinding activities to catalyze strand exchange. 38
15845538 2005
432
BLM helicase is activated in BCR/ABL leukemia cells to modulate responses to cisplatin. 38
15750625 2005
433
Recql5 and Blm RecQ DNA helicases have nonredundant roles in suppressing crossovers. 38
15831450 2005
434
BLM helicase facilitates Mus81 endonuclease activity in human cells. 38
15805243 2005
435
Bloom syndrome in an Indian child. 38
15804305 2005
436
Carrier screening panels for Ashkenazi Jews: is more better? 38
15775754 2005
437
Formation of deletions during double-strand break repair in Drosophila DmBlm mutants occurs after strand invasion. 38
15501916 2004
438
Localization of cancer susceptibility genes by genome-wide single-nucleotide polymorphism linkage-disequilibrium mapping. 38
15520224 2004
439
Expression of Werner and Bloom syndrome genes is differentially regulated by in vitro HIV-1 infection of peripheral blood mononuclear cells. 38
15498034 2004
440
Spontaneous and induced chromosomal damage and mutations in Bloom Syndrome mice. 38
15450411 2004
441
Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. 38
15367665 2004
442
The hyper unequal sister chromatid recombination in an sgs1 mutant of budding yeast requires MSH2. 9
15336630 2004
443
Relatively common mutations of the Bloom syndrome gene in the Japanese population. 38
15289897 2004
444
ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 38
15292027 2004
445
BLM and the FANC proteins collaborate in a common pathway in response to stalled replication forks. 38
15257300 2004
446
Malignant solid tumors associated with congenital immunodeficiency disorders. 38
15205088 2004
447
Dominant negative effect of novel mutations in pyruvate kinase-M2. 38
15294093 2004
448
Interplay between Drosophila Bloom's syndrome helicase and Ku autoantigen during nonhomologous end joining repair of P element-induced DNA breaks. 9
15184650 2004
449
Absence of BLM leads to accumulation of chromosomal DNA breaks during both unperturbed and disrupted S phases. 9
15197177 2004
450
Multiple genetic pathways involving the Caenorhabditis elegans Bloom's syndrome genes him-6, rad-51, and top-3 are needed to maintain genome stability in the germ line. 9
15143192 2004
451
Clinical and cellular radiosensitivity in inherited human syndromes. 9
15191009 2004
452
Alternative lengthening of telomeres is characterized by high rates of telomeric exchange. 38
15059879 2004
453
Early-onset drusen in a girl with bloom syndrome: probable clinical importance of an ocular manifestation. 38
15087955 2004
454
The absence of a functional relationship between ATM and BLM, the components of BASC, in DT40 cells. 38
14990344 2004
455
Bloom syndrome: multiple retinopathies in a chromosome breakage disorder. 38
14977768 2004
456
Stimulation of flap endonuclease-1 by the Bloom's syndrome protein. 9
14688284 2004
457
Disruption of the BLM gene in ATM-null DT40 cells does not exacerbate either phenotype. 38
14985700 2004
458
H2AX may function as an anchor to hold broken chromosomal DNA ends in close proximity. 9
14712078 2004
459
The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining. 38
15476892 2004
460
The function of RecQ helicase gene family (especially BLM) in DNA recombination and joining. 38
15493327 2004
461
[Differentiation of activity of a superoxide dismutase inhibitor in human cells exposed to radiation, chemical mutagens and radioadaptive response]. 38
14964829 2003
462
Chromosome instability and tumor predisposition inversely correlate with BLM protein levels. 38
14642567 2003
463
Hyper-recombination and genetic instability in BLM-deficient epithelial cells. 38
14695165 2003
464
Genomic instability and cancer. 38
14601634 2003
465
Functional interaction between the Bloom's syndrome helicase and the RAD51 paralog, RAD51L3 (RAD51D). 9
12975363 2003
466
Possible anti-recombinogenic role of Bloom's syndrome helicase in double-strand break processing. 9
14576316 2003
467
Telomere and ribosomal DNA repeats are chromosomal targets of the bloom syndrome DNA helicase. 38
14577841 2003
468
Bloom syndrome cells undergo p53-dependent apoptosis and delayed assembly of BRCA1 and NBS1 repair complexes at stalled replication forks. 38
14517203 2003
469
RecQ helicases: suppressors of tumorigenesis and premature aging. 9
12803543 2003
470
Carrier testing for autosomal-recessive disorders. 38
14582604 2003
471
DNA damage and stress transcripts in Saccharomyces cerevisiae mutant sgs1. 9
12875747 2003
472
Characterization and mutational analysis of the RecQ core of the bloom syndrome protein. 38
12818200 2003
473
A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome. 38
12724401 2003
474
The Nucleo-cytoplasmic actin-binding protein CapG lacks a nuclear export sequence present in structurally related proteins. 38
12637565 2003
475
Heterozygosity for the BLM(Ash) mutation and cancer risk. 38
12702560 2003
476
BLM helicase-dependent transport of p53 to sites of stalled DNA replication forks modulates homologous recombination. 38
12606585 2003
477
New mutations and protein variants of NBS1 are identified in cancer cell lines. 38
12508248 2003
478
Ocular manifestations in the inherited DNA repair disorders. 38
12559331 2003
479
Cancer as an evolutionary process at the cell level: an epidemiological perspective. 38
12538342 2003
480
Drosophila BLM in double-strand break repair by synthesis-dependent strand annealing. 38
12522255 2003
481
The Bloom syndrome helicase BLM interacts with TRF2 in ALT cells and promotes telomeric DNA synthesis. 38
12444098 2002
482
Helicase activity is only partially required for Schizosaccharomyces pombe Rqh1p function. 38
12478586 2002
483
Recombinational DNA repair and human disease. 38
12427531 2002
484
Protecting genomic integrity during DNA replication: correlation between Werner's and Bloom's syndrome gene products and the MRE11 complex. 9
12351580 2002
485
Chromosome breakage syndromes and cancer. 38
12407692 2002
486
Chromosomal instability in B-lymphoblasotoid cell lines from Werner and Bloom syndrome patients. 38
12297140 2002
487
Enhanced tumor formation in mice heterozygous for Blm mutation. 38
12242442 2002
488
Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM. 9
12034743 2002
489
Molecular advances in genetic skin diseases. 38
12130905 2002
490
Genetic insights into familial cancers-- update and recent discoveries. 38
12175530 2002
491
Expression of BLM (the causative gene for Bloom syndrome) and screening of Bloom syndrome. 38
12060858 2002
492
Colocalization, physical, and functional interaction between Werner and Bloom syndrome proteins. 38
11919194 2002
493
Etiology of osteosarcoma. 38
11953594 2002
494
Bloom's syndrome protein response to ultraviolet-C radiation and hydroxyurea-mediated DNA synthesis inhibition. 9
11960380 2002
495
Dephosphorylation and subcellular compartment change of the mitotic Bloom's syndrome DNA helicase in response to ionizing radiation. 9
11741924 2002
496
Werner and Bloom helicases are involved in DNA repair in a complementary fashion. 38
11840341 2002
497
[Functional analysis of yeast homologue gene associated with human DNA helicase causative syndromes]. 38
12638184 2002
498
The Bloom syndrome protein interacts and cooperates with p53 in regulation of transcription and cell growth control. 38
11781842 2001
499
Bloom syndrome in sibs: first reports of hepatocellular carcinoma and Wilms tumor with documented anaplasia and nephrogenic rests. 38
11826367 2001
500
Telomerase activity in cell lines and lymphoma originating from Bloom syndrome. 38
11697506 2001
501
Immunohistochemical expression and pathogenesis of BLM in the human brain and visceral organs. 38
11396677 2001
502
Functions of RecQ family helicases: possible involvement of Bloom's and Werner's syndrome gene products in guarding genome integrity during DNA replication. 9
11275547 2001
503
Regulation and localization of the Bloom syndrome protein in response to DNA damage. 38
11309417 2001
504
Bloom helicase is involved in DNA surveillance in early S phase in vertebrate cells. 38
11313858 2001
505
Recombination-mediated lengthening of terminal telomeric repeats requires the Sgs1 DNA helicase. 38
11248051 2001
506
[BLM (RCQL2) or Bloom Syndrome]. 38
11291661 2001
507
Back mutation can produce phenotype reversion in Bloom syndrome somatic cells. 38
11281456 2001
508
[Bloom syndrome]. 38
11462440 2001
509
A review of inherited cancer syndromes and their relevance to oral squamous cell carcinoma. 38
11120478 2001
510
The Bloom Syndrome Protein BLM Is Selectively Cleaved during Apoptotic Cell Death. 38
30147470 2001
511
The C-terminal domain of the Bloom syndrome DNA helicase is essential for genomic stability. 38
11472631 2001
512
Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype. 38
11532193 2001
513
Novel immunodeficiency data servers. 38
11213802 2000
514
Cloning, genomic structure and chromosomal localization of the gene encoding mouse DNA helicase RecQ helicase protein-like 4. 9
11167012 2000
515
ATM-dependent phosphorylation and accumulation of endogenous BLM protein in response to ionizing radiation. 9
11146546 2000
516
Binding and melting of D-loops by the Bloom syndrome helicase. 38
11087418 2000
517
[Independence of DNA repair after gamma irradiation and radioadaptive response in lymphocytes of patients with Bloom syndrome]. 38
11252227 2000
518
Inhibition of unwinding of G-quadruplex structures by Sgs1 helicase in the presence of N,N'-bis[2-(1-piperidino)ethyl]-3,4,9,10-perylenetetracarboxylic diimide, a G-quadruplex-interactive ligand. 9
10924124 2000
519
Replication protein A physically interacts with the Bloom's syndrome protein and stimulates its helicase activity. 9
10825162 2000
520
Werner's syndrome protein (WRN) migrates Holliday junctions and co-localizes with RPA upon replication arrest. 9
11256630 2000
521
Covalent modification of the Werner's syndrome gene product with the ubiquitin-related protein, SUMO-1. 9
10806190 2000
522
[Bloom syndrome]. 38
10921324 2000
523
Recent advances in chromosome breakage syndromes and their diagnosis. 38
10869141 2000
524
Potent inhibition of werner and bloom helicases by DNA minor groove binding drugs. 38
10871376 2000
525
Helicases and aging. 38
10892338 2000
526
Characterization of the nuclear localization signal in the DNA helicase responsible for Bloom syndrome. 38
10762650 2000
527
Nuclear structure in normal and Bloom syndrome cells. 38
10779560 2000
528
p53 splice acceptor site mutation and increased HsRAD51 protein expression in Bloom's syndrome GM1492 fibroblasts. 9
10767546 2000
529
Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. 38
10751094 2000
530
Association of the Bloom syndrome protein with topoisomerase IIIalpha in somatic and meiotic cells. 38
10728666 2000
531
Expression and nuclear localization of BLM, a chromosome stability protein mutated in Bloom's syndrome, suggest a role in recombination during meiotic prophase. 9
10652259 2000
532
An intracranial carcinoma in a Mexican woman with Bloom syndrome. 38
10818223 2000
533
[Bloom syndrome]. 38
11212711 2000
534
[Bloom syndrome]. 38
11057173 2000
535
Myelodysplastic syndrome associated with monosomy 7 in a child with Bloom syndrome. 38
10616531 2000
536
PML is critical for ND10 formation and recruits the PML-interacting protein daxx to this nuclear structure when modified by SUMO-1. 38
10525530 1999
537
Mucinous carcinoma of the colon in a 16-year-old Turkish boy with Bloom syndrome: cytogenetic, histopathologic, TP53 gene and protein expression studies. 38
10326590 1999
538
Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. 9
10319867 1999
539
Growth deficiency and malnutrition in Bloom syndrome. 38
10190923 1999
540
Sclerosing hyaline necrosis of the liver in Bloom syndrome. 38
10320150 1999
541
The DNA helicase activity of BLM is necessary for the correction of the genomic instability of bloom syndrome cells. 38
10069810 1999
542
[The Blm(-/-) mice: an stage towards the understanding the molecular mechanisms at play in Bloom syndrome]. 38
10847720 1999
543
Progeroid syndrome with facial teleangiectatic erythema, posterior subcapsular cataracts, calcification of basal ganglia and atrium septum defect type 2. 38
10631929 1999
544
Differential expression of p53, p21waf1/cip1 and hdm2 dependent on DNA damage in Bloom's syndrome fibroblasts. 9
9886565 1998
545
Point mutations causing Bloom's syndrome abolish ATPase and DNA helicase activities of the BLM protein. 9
9840919 1998
546
Recent advances in DNA repair and recombination. 9
9806421 1998
547
The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors. 38
9731483 1998
548
Histopathologic and ultrastructural study of lupus-like skin lesions in a patient with Bloom syndrome. 38
9696294 1998
549
Experience treating a patient with Bloom syndrome and acute myelogenous leukemia. 38
9544230 1998
550
T-cell receptor-gamma rearrangement and c-myb methylation in MNNG-exposed Bloom syndrome B-lymphoblastoid cells. 38
9563641 1998
551
MNNG-transformed Bloom syndrome B-lymphoblastoids for the detection of Hodgkin's lymphoma-associated antigen in 2D Westerns. 38
9563642 1998
552
Involvement of Brca2 in DNA repair. 38
9660919 1998
553
Characterization of the nuclear localization signal in the DNA helicase involved in Werner's syndrome. 38
9852201 1998
554
[Bloom syndrome]. 38
9833485 1998
555
A role for the amino terminus of human topoisomerase I. 9
9762357 1998
556
Disorders of DNA replication and repair. 38
9425594 1997
557
BLM (the causative gene of Bloom syndrome) protein translocation into the nucleus by a nuclear localization signal. 38
9388480 1997
558
Two Japanese siblings with Bloom syndrome gene mutation and B-cell lymphoma. 38
9477137 1997
559
Correction of the Bloom syndrome cellular phenotypes. 38
9546074 1997
560
The Werner syndrome protein is a DNA helicase. 9
9288107 1997
561
Photosensitivity in the pediatric patient. 38
9300196 1997
562
rqh1+, a fission yeast gene related to the Bloom's and Werner's syndrome genes, is required for reversible S phase arrest. 9
9184215 1997
563
RecQ DNA helicase is a suppressor of illegitimate recombination in Escherichia coli. 38
9108069 1997
564
A case of Bloom syndrome with conjunctival telangiectasia. 38
9144698 1997
565
Microsatellite instability in B-cell lymphoma originating from Bloom syndrome. 38
8980251 1996
566
SGS1, a homologue of the Bloom's and Werner's syndrome genes, is required for maintenance of genome stability in Saccharomyces cerevisiae. 9
8913739 1996
567
Large deletions at the HPRT locus associated with the mutator phenotype in a Bloom's syndrome lymphoblastoid cell line. 9
8876674 1996
568
[Wilms tumor and Bloom syndrome]. 38
8998536 1996
569
Bloom syndrome: is the gene mapped to the point? 38
8698416 1996
570
Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability. 38
8637501 1996
571
Effects of topoisomerase II inhibition in lymphoblasts from patients with progeroid and "chromosome instability" syndromes. 38
8625255 1996
572
[Gastric adenocarcinoma in 2 cases of Bloom syndrome]. 38
8948937 1996
573
Treatment of Bloom syndrome patients: guidelines and report of a case. 38
8637756 1996
574
Expression of mucinous ovarian-cancer antigen in hybrid-cells derived by fusing a malignantly transformed bloom-syndrome cell-line (bs-shi-4m ovc-mu) and mouse L-cell-line. 38
21552960 1995
575
Increased incidence of cutaneous carcinomas in patients with congenital ichthyosis. 38
7593802 1995
576
Low-sister-chromatid-exchange Bloom syndrome cell lines: an important new tool for mapping the basic genetic defect in Bloom syndrome and for unraveling the biology of human tumor development. 38
7485184 1995
577
Comet assay analysis of repair of DNA strand breaks in normal and deficient human cells exposed to radiations and chemicals. Evidence for a repair pathway specificity of DNA ligation. 9
7480643 1995
578
Mammalian DNA ligase III: molecular cloning, chromosomal localization, and expression in spermatocytes undergoing meiotic recombination. 38
7565692 1995
579
Diagnostic relevance of abortion-associated human embryonic antigen expressed on the cell surface of tumour promoter-treated Bloom syndrome cells. 38
8582963 1995
580
Cancer antigen expression and chromosomal changes in a carcinogen-transformed bloom-syndrome B-lymphoblastoid cell-line. 38
21556573 1995
581
A human embryonic antigen associated with spontaneous-abortion is expressed on the cell-surface of a tumor promoter-treated bloom-syndrome B-lymphoblastoid cell-line. 38
21556539 1995
582
Non-random distribution of spontaneous chromosome aberrations in two Bloom Syndrome patients. 38
8537239 1995
583
p53-dependent pathway of radio-induced apoptosis is altered in Fanconi anemia. 38
7824283 1995
584
Chromosomal breakage in human spermatozoa, a heterozygous effect of the Bloom syndrome mutation. 38
7977385 1994
585
Panning and immune electron-microscopic study of mucinous ovarian-cancer antigen-specific cells derived from malignantly transformed bloom-syndrome B-lymphoblastoid cells. 38
21567035 1994
586
Resistance to 1-Beta-d-arabinofuranosylcytosine and hypersensitivity to bleomycin in ataxia-telangiectasia B-lymphoblastoid cell-lines. 38
21567034 1994
587
Interaction of bloom-syndrome cellular cancer antigens with sera of malignant-lymphoma patients - an immunological and cytogenetical study. 38
21566955 1994
588
Chromosomal mapping of mouse genes expressed selectively within the central nervous system. 38
7910582 1994
589
Elevated production of active oxygen in Bloom's syndrome cell lines. 38
8221645 1993
590
Uncorrected SCE levels of Bloom syndrome cells by cell hybridization with malignant cells with 14q32 structural abnormalities. 38
8374900 1993
591
G2 phase cell cycle disturbance as a manifestation of genetic cell damage. 38
8365728 1993
592
p53 mutation in fresh lymphocytes, B-lymphoblastoid cell lines and their transformed cell lines originating from Bloom syndrome patients. 38
8330285 1993
593
Phenotypic correction of a human cell line (46BR) with aberrant DNA ligase I activity. 9
7683758 1993
594
Elevation of sister chromatid exchange frequency in transformed human fibroblasts following exposure to widely used aminoglycosides. 38
8419155 1993
595
Heterozygous manifestations in four autosomal recessive human cancer-prone syndromes: ataxia telangiectasia, xeroderma pigmentosum, Fanconi anemia, and Bloom syndrome. 38
1279391 1992
596
[Growth hormone therapy in dysmorphic syndromes and chronic disease]. 38
1448809 1992
597
Hereditary and environmental factors associated with risk and progression of head and neck cancer. 38
1408193 1992
598
Enhanced expression of stomach cancer antigen derived from malignantly transformed bloom syndrome cells previously labeled with bromodeoxyuridine. 38
1521223 1992
599
Increased expression of 5q31 fragile site in a Bloom syndrome family. 38
1386058 1992
600
Rescue of the adeno-associated virus 2 genome correlates with alterations in DNA-modifying enzymes in human cells. 9
1314783 1992
601
[The interrelation between changes in the structural organization of replicon clusters, a retarded fork displacement rate and the high level of spontaneous SCEs in form II of xeroderma pigmentosum]. 38
1455562 1992
602
[An infant with short stature and red cheeks (Rothmund-Thomson syndrome)]. 38
1776148 1991
603
Sister chromatid exchange (SCE) frequencies differ between directly prepared cytotrophoblasts and cultured mesenchymal core cells. 38
1937478 1991
604
A human nuclear uracil DNA glycosylase is the 37-kDa subunit of glyceraldehyde-3-phosphate dehydrogenase. 38
1924305 1991
605
Bloom syndrome and ataxia telangiectasia. 38
1876866 1991
606
Relationship of DNA strand breakage produced by bromodeoxyuridine to topoisomerase II activity in Bloom-syndrome fibroblasts. 38
1848352 1991
607
Carcinogenesis: molecular defences against carcinogens. 38
1863847 1991
608
Molecular epidemiology of cancer in immune deficiency. 38
2032252 1991
609
Two types of DNA ligase I activity in lymphoblastoid cells from patients with Bloom's syndrome. 9
1900268 1991
610
Nature and role of high sister chromatid exchanges in Bloom syndrome cells. Some cytogenetic and immunological aspects. 38
2265400 1990
611
Bromodeoxyuridine (BrdU) template and thymidine pool effects on high frequencies of sister-chromatid exchange (SCE) in Bloom syndrome cells and a mutant cell line (AsHa) originated from ataxia telangiectasia. 38
2374555 1990
612
Western blotting analysis for malignant lymphoma and stomach cancer antigens from carcinogen-transformed Bloom syndrome cells. 38
2323853 1990
613
Increased levels of 5-fluorouracil-induced DNA lesions in Bloom's syndrome. 9
2106500 1990
614
[Bloom syndrome. Report of 2 cases]. 38
2292923 1990
615
Levels of sister-chromatid exchanges in hybrids between Bloom syndrome B-lymphoblastoid cells and various cell lines with lymphoid malignancy. 38
2300080 1990
616
[Bloom syndrome, constitutional and induced genetic instability in 2 cases from Argentina]. 38
2629124 1989
617
Radioresistant DNA synthesis and human genetic diseases. 38
2722185 1989
618
Different mutations responsible for the elevated sister-chromatid exchange frequencies in Bloom syndrome and X-irradiated B-lymphoblastoid cell lines originating from acute leukemia. 38
2784538 1989
619
Cancer antigens are expressed in a carcinogen-transformed Bloom syndrome B-lymphoblastoid cell line. 38
3186719 1988
620
[Immunodeficiency and chromosome instability]. 38
3206518 1988
621
[Congenital telangiectatic erythema (Bloom syndrome)]. 38
3042705 1988
622
Effects of cell fusion and deoxynucleosides on sister-chromatid exchanges in B-lymphoblastoid cell lines from 5 Bloom syndrome patients. 38
2966298 1988
623
Potential intracellular target proteins of the anticarcinogenic Bowman Birk protease inhibitor identified by affinity chromatography. 38
3280120 1988
624
Disparate effects of 5-bromodeoxyuridine on sister-chromatid exchanges and chromosomal aberrations in Bloom syndrome fibroblasts. 38
2965297 1988
625
Gene-rich chromosome regions and autosomal trisomy. A case of chromosome 3 trisomy mosaicism. 38
3315958 1987
626
Do individual allocyclic chromosomes in metaphase reflect their interphase domains? 38
3679207 1987
627
Transformation of DNA repair-deficient human diploid fibroblasts with a simian virus 40 plasmid. 38
3030788 1987
628
Cell cycle rate and sister chromatid exchange profile in polyethylene glycol-exposed/unexposed Bloom syndrome and normal cells. A co-culture study. 38
3570291 1987
629
Three-way differentiation of sister chromatids in endoreduplicated (M3) chromosomes of Bloom syndrome B-lymphoid cell line. 38
3493971 1987
630
SCE levels in Bloom-syndrome cells at very low bromodeoxyuridine (BrdU) concentrations: monoclonal anti-BrdU antibody. 38
3540648 1987
631
Segregation after mitotic crossing-over in isodicentric X chromosomes. 38
3691186 1987
632
Hypersensitive character of Bloom syndrome B-lymphoblastoid cell lines usable for sensitive carcinogen detection. 38
3490622 1986
633
Cell cycle progression and SCE rate of Bloom syndrome cells with/without co-cultivation in the presence/absence of normal cells. 38
3485532 1986
634
Conversion of replicative intermediates in human DNA-repair defective cells. 38
3956584 1986
635
Dicentric chromosomes and the inactivation of the centromere. 38
3456974 1986
636
Preneoplastic phenotype and chromosome changes of cultured human Bloom syndrome fibroblasts (strain GM 1492). 38
3940643 1986
637
[Dental findings in 2 siblings with Bloom Syndrome: a case report]. 38
3461526 1986
638
Genotoxicity of diesel exhaust emissions in a battery of in-vitro short-term and in-vivo bioassays. 38
2435508 1986
639
Bloom syndrome in a Mexican mestizo girl. 38
3487274 1986
640
Bloom syndrome B-lymphoblastoid cells are hypersensitive towards carcinogen and tumor promoter-induced chromosomal alterations and growth in agar. 38
3876929 1985
641
Induction of superoxide dismutase, chromosomal aberrations and sister-chromatid exchanges by paraquat in Chinese hamster fibroblasts. 38
4033679 1985
642
Malignant transformation of Bloom syndrome B-lymphoblastoid cell lines by carcinogens. 38
3875094 1985
643
Chromosomal radiosensitivity during the G2 cell-cycle period of skin fibroblasts from individuals with familial cancer. 38
3860870 1985
644
Mitotic chiasmata, gene density, and oncogenes. 38
3997147 1985
645
12-O-Tetradecanoylphorbol-13-acetate (TPA)-induced gene sequences in human primary diploid fibroblasts and their expression in SV40-transformed fibroblasts. 38
3003127 1985
646
Cytogenetic study in a mentally retarded child with Bloom syndrome and acute lymphoblastic leukemia. 38
6589956 1984
647
Sensitivity of Bloom syndrome fibroblasts to mitomycin C. 38
6429525 1984
648
Protease inhibitors reduce the frequency of spontaneous chromosome abnormalities in cells from patients with Bloom syndrome. 38
6584916 1984
649
Analysis of sister chromatid exchanges in Bloom syndrome by use of endomitotic and three-way differentiation procedures. 38
6084996 1984
650
Cell-stage dependence of the formation of SCEs and chromosomal aberrations. 38
6442568 1984
651
Complementation studies in murine/human hybrids suggest multiple etiology for increased rate of sister chromatid exchange in mammalian cells. 38
6529423 1984
652
Heterozygous carriers for Bloom syndrome exhibit a spontaneously increased micronucleus formation in cultured fibroblasts. 38
6745925 1984
653
Corrective factor of Bloom syndrome: identity and relevance. 38
6505481 1984
654
Different properties in lymphoblastoid cell lines from patients with Bloom syndrome. 38
6099120 1984
655
Effect of poly(ADP-ribose)polymerase inhibitors on the frequency of sister-chromatid exchanges in Bloom syndrome cells. 38
6318100 1983
656
Chromatid damage after G2 phase x-irradiation of cells from cancer-prone individuals implicates deficiency in DNA repair. 38
6577447 1983
657
[Gonadal dysgenesis and Bloom syndrome]. 38
6598454 1983
658
Cytogenetic toxicity of D2O in human lymphocyte cultures. Increased sensitivity in Fanconi's anemia. 38
6305704 1983
659
Analyses of bromodeoxyuridine-associated sister chromatid exchanges (SCEs) in Bloom syndrome based on cell fusion: single and twin SCEs in endoreduplication. 38
6308619 1983
660
Establishment of B-lymphoid cell lines retaining cytogenetic characteristics of Bloom syndrome. 38
6303556 1983
661
Transformation of Bloom syndrome T-lymphocytes by cocultivation with a lethally irradiated human T-cell line carrying type C virus particles. 38
6305751 1983
662
Hereditary lecithin-cholesterol acyltransferase deficiency and Bloom syndrome in the same individual. 38
6859101 1983
663
[Cytogenetic analysis of the Bloom syndrome. A study of the exchange-break relationship]. 38
6607700 1983
664
Cellular hypersensitivity to UV-A: a clue to the aetiology of actinic reticuloid? 38
6184584 1983
665
Is there a general relationship between estimated chromosome distances in interphase and location of genes with related functions? 38
6862442 1983
666
12-O-tetradecanoylphorbol 13-acetate-inducible proteins are synthesized at an increased rate in Bloom syndrome fibroblasts. 38
6961458 1982
667
Human fibroblast strains showing increased sensitivity or resistance to ethidium bromide. 38
7144789 1982
668
Effects of temperature on sister chromatid exchange in Bloom syndrome cells. 38
6818087 1982
669
Bloom syndrome fibroblasts secrete a metabolite which enhances SCE rate in normal fibroblasts. 38
7102727 1982
670
SCE in Bloom syndrome B and T lymphocytes. 38
6980066 1982
671
The effect of aphidicolin on the rate of DNA replication and unscheduled DNA synthesis of Bloom syndrome and normal fibroblasts. 38
6809595 1982
672
Analysis of single and twin sister chromatid exchanges in endoreduplicated normal and Bloom syndrome B-lymphoid cells. 38
6984382 1982
673
Effects of cell fusion on mitomycin C induced SCE levels. 38
6813028 1982
674
Normalization by cell fusion of sister chromatid exchange in Bloom syndrome lymphocytes. 38
7221565 1981
675
Tendency to high levels of UVR-induced unscheduled DNA synthesis in Bloom syndrome. 38
7242543 1981
676
Clastogenic activity from Bloom syndrome fibroblast cultures. 38
6940194 1981
677
Repair of Bleomycin-damaged DNA by human fibroblasts. 38
6171650 1981
678
Diphtheria toxin resistance in human fibroblast cell strains from normal and cancer-prone individuals. 38
7464842 1980
679
Effects of caffeine-pretreatment on SCE and chromosome aberrations induced by monofunctional- and bifunctional-mitomycin C in Bloom syndrome lymphocytes. 38
7442695 1980
680
Human gene mapping and cancer biology. 38
258171 1979
681
Frequency of sister chromatid exchanges in Bloom syndrome fibroblasts reduced by cocultivation with normal cells. 38
437776 1979
682
Immune responses in four patients with Bloom syndrome. 38
421370 1979
683
Ataxia telangiectasia: chromosomal stability in continuous lymphoblastoid cell lines. 38
761484 1979
684
[Photosensitization and DNA repair. Possible nosologic relationship between Xeroderma pigmentosum and Cockayne's syndrome]. 38
749755 1978
685
[Bloom syndrome: review and definition]. 38
700567 1978
686
Apurinic DNA endonuclease activities in repair-deficient human cell lines. 38
634794 1978
687
Studies of malformation syndromes of man XLVII: disappearance of spermatogonia in the Fanconi anemia syndrome. 38
267584 1977
688
Chromatid exchanges in ataxia telangiectasia, Bloom syndrome, Werner syndrome, and xeroderma pigmentosum. 38
962324 1976
689
Neonatal lupus erythematosus. Report of four cases with review of the literature. 38
1275526 1976
690
Proceedings: Bloom syndrome. 38
4814951 1974
691
[Bloom syndrome. A disease with relatively high leukemia morbidity]. 38
4179617 1969
692
[The Bloom syndrome]. 38
5757103 1968
693
[Bloom syndrome. Case report with dermatohistological, endocrinologic, immunologic and cytogenetic studies]. 38
4174475 1967
694
[Congenital telangiectatic erythema (Bloom syndrome) with diabetes insipidus]. 38
6001361 1966

Variations for Bloom Syndrome

ClinVar genetic disease variations for Bloom Syndrome:

6 (showing 821, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 BLM NM_000057.4(BLM): c.1544del (p.Asn515fs) deletion Pathogenic rs367543043 15:91304147-91304147 15:90760917-90760917
2 BLM NM_000057.4(BLM): c.2875C> T (p.Arg959Ter) single nucleotide variant Pathogenic rs762354041 15:91333930-91333930 15:90790700-90790700
3 BLM NM_000057.4(BLM): c.320dup (p.Leu107fs) duplication Pathogenic rs781221411 15:91292818-91292818 15:90749588-90749588
4 BLM NM_000057.4(BLM): c.1933C> T (p.Gln645Ter) single nucleotide variant Pathogenic rs373525781 15:91306246-91306246 15:90763016-90763016
5 BLM NM_000057.4(BLM): c.213_214del (p.Ser72fs) deletion Pathogenic rs960430492 15:91292711-91292712 15:90749481-90749482
6 BLM NM_000057.4(BLM): c.1129del (p.Glu377fs) deletion Pathogenic rs1555419710 15:91303418-91303418 15:90760188-90760188
7 BLM NM_000057.4(BLM): c.1295dup (p.Pro432_Asp433insTer) duplication Pathogenic rs1555419806 15:91303898-91303898 15:90760668-90760668
8 BLM NM_000057.4(BLM): c.3261del (p.Phe1087fs) deletion Pathogenic rs1319786857 15:91341470-91341470 15:90798240-90798240
9 BLM NC_000015.9: g.(?_91298035)_(91298174_?)del deletion Pathogenic 15:91298035-91298174 15:90754805-90754944
10 BLM NC_000015.9: g.(?_91333873)_(91334080_?)del deletion Pathogenic 15:91333873-91334080 15:90790643-90790850
11 BLM NM_000057.4(BLM): c.2539del (p.Ile847fs) deletion Pathogenic rs770751979 15:91312800-91312800 15:90769570-90769570
12 BLM NM_000057.4(BLM): c.1985_1986del (p.Lys662fs) deletion Pathogenic rs762804291 15:91306293-91306295 15:90763068-90763069
13 BLM NM_000057.4(BLM): c.2207_2212delinsTAGATTC (p.Tyr736fs) indel Pathogenic rs113993962 15:91310153-91310158 15:90766923-90766928
14 BLM NM_000057.4(BLM): c.557_559del (p.Ser186_Lys187delinsTer) deletion Pathogenic rs367543035 15:91293055-91293057 15:90749825-90749827
15 BLM NM_000057.4(BLM): c.3107G> T (p.Cys1036Phe) single nucleotide variant Pathogenic rs137853153 15:91337484-91337484 15:90794254-90794254
16 BLM NM_000057.4(BLM): c.1544dup (p.Asn515fs) duplication Pathogenic rs367543043 15:91304147-91304147 15:90760917-90760917
17 BLM NM_000057.4(BLM): c.1628T> A (p.Leu543Ter) single nucleotide variant Pathogenic rs367543038 15:91304231-91304231 15:90761001-90761001
18 BLM NM_000057.4(BLM): c.3727dup (p.Thr1243fs) duplication Pathogenic rs367543021 15:91347565-91347565 15:90804335-90804335
19 BLM NM_000057.4(BLM): c.3681del (p.Lys1227fs) deletion Pathogenic rs367543020 15:91347519-91347519 15:90804289-90804289
20 BLM NM_000057.4(BLM): c.1088-2A> G single nucleotide variant Pathogenic rs367543015 15:91303375-91303375 15:90760145-90760145
21 BLM NM_000057.4(BLM): c.3587del (p.Ser1196fs) deletion Pathogenic rs367543018 15:91347425-91347425 15:90804195-90804195
22 BLM NM_000057.4(BLM): c.2098C> T (p.Gln700Ter) single nucleotide variant Pathogenic rs367543028 15:91308549-91308549 15:90765319-90765319
23 BLM NM_000057.4(BLM): c.2193+2T> G single nucleotide variant Pathogenic rs367543040 15:91308646-91308646 15:90765416-90765416
24 BLM NM_000057.2(BLM): c.2308-953_2555+4719del deletion Pathogenic 15:91311410-91317535 15:90768180-90774305
25 BLM NM_000057.4(BLM): c.2406+2T> G single nucleotide variant Pathogenic rs367543016 15:91312463-91312463 15:90769233-90769233
26 BLM NM_000057.4(BLM): c.2506_2507del (p.Arg836fs) deletion Pathogenic rs367543024 15:91312767-91312768 15:90769537-90769538
27 BLM NM_000057.4(BLM): c.2643G> A (p.Trp881Ter) single nucleotide variant Pathogenic rs367543039 15:91326139-91326139 15:90782909-90782909
28 BLM NM_000057.4(BLM): c.275del (p.Asn92fs) deletion Pathogenic rs367543027 15:91292773-91292773 15:90749543-90749543
29 BLM NM_000057.4(BLM): c.2855G> T (p.Gly952Val) single nucleotide variant Pathogenic rs367543034 15:91333910-91333910 15:90790680-90790680
30 BLM NM_000057.4(BLM): c.2887C> T (p.His963Tyr) single nucleotide variant Pathogenic rs367543023 15:91333942-91333942 15:90790712-90790712
31 BLM NM_000057.4(BLM): c.2923del (p.Gln975fs) deletion Pathogenic rs367543014 15:91333978-91333978 15:90790748-90790748
32 BLM NM_000057.4(BLM): c.311C> A (p.Ser104Ter) single nucleotide variant Pathogenic rs367543030 15:91292809-91292809 15:90749579-90749579
33 BLM NM_000057.4(BLM): c.3191A> T (p.Asp1064Val) single nucleotide variant Pathogenic rs367543032 15:91337568-91337568 15:90794338-90794338
34 BLM NM_000057.4(BLM): c.3197G> A (p.Cys1066Tyr) single nucleotide variant Pathogenic rs367543025 15:91337574-91337574 15:90794344-90794344
35 BLM NM_000057.4(BLM): c.3223dup (p.Arg1075fs) duplication Pathogenic rs367543022 15:91341432-91341432 15:90798202-90798202
36 BLM NM_000057.4(BLM): c.3255_3256insT (p.Arg1086Ter) insertion Pathogenic rs367543037 15:91341464-91341465 15:90798234-90798235
37 BLM NM_000057.4(BLM): c.3278C> G (p.Ser1093Ter) single nucleotide variant Pathogenic rs367543017 15:91341487-91341487 15:90798257-90798257
38 BLM NM_000057.4(BLM): c.3558+1G> A single nucleotide variant Pathogenic rs148969222 15:91346951-91346951 15:90803721-90803721
39 BLM NM_000057.4(BLM): c.582del (p.Phe194fs) deletion Pathogenic rs367543026 15:91293080-91293080 15:90749850-90749850
40 BLM NM_000057.3(BLM): c.3751-?_*(177_?)del deletion Pathogenic 15:91347589-91358686 15:90804359-90815456
41 BLM NM_000057.4(BLM): c.2407dup (p.Trp803fs) duplication Pathogenic rs367543012 15:91312668-91312668 15:90769438-90769438
42 BLM NM_000057.4(BLM): c.3415C> T (p.Arg1139Ter) single nucleotide variant Pathogenic rs587783037 15:91346807-91346807 15:90803577-90803577
43 BLM NM_000057.4(BLM): c.1358T> G (p.Leu453Ter) single nucleotide variant Pathogenic rs730881428 15:91303961-91303961 15:90760731-90760731
44 BLM NC_000015.9: g.(?_91354425)_(91354646_?)del deletion Pathogenic 15:91354425-91354646 15:90811195-90811416
45 BLM NM_000057.4(BLM): c.2206dup (p.Tyr736fs) duplication Pathogenic rs886051551 15:91310152-91310152 15:90766922-90766922
46 BLM NM_000057.4(BLM): c.2851_2857del (p.Met951fs) deletion Pathogenic 15:91333906-91333912 15:90790676-90790682
47 BLM NM_000057.4(BLM): c.839_888del (p.Glu279_Leu280insTer) deletion Pathogenic 15:91295056-91295105 15:90751826-90751875
48 BLM NM_000057.4(BLM): c.835G> T (p.Glu279Ter) single nucleotide variant Pathogenic 15:91295052-91295052 15:90751822-90751822
49 BLM NM_000057.4(BLM): c.2580_2581del (p.His860fs) deletion Pathogenic rs864622347 15:91326076-91326077 15:90782846-90782847
50 BLM NM_000057.4(BLM): c.3569delinsAA (p.Met1190fs) indel Pathogenic 15:91347407-91347407 15:90804177-90804177
51 BLM NM_000057.4(BLM): c.3960dup (p.Val1321fs) duplication Pathogenic 15:91354520-91354520 15:90811290-90811290
52 BLM NM_000057.4(BLM): c.2506del (p.Arg836fs) deletion Pathogenic 15:91312767-91312767 15:90769537-90769537
53 BLM NM_000057.4(BLM): c.1462G> T (p.Glu488Ter) single nucleotide variant Pathogenic 15:91304065-91304065 15:90760835-90760835
54 BLM NM_000057.4(BLM): c.1043dup (p.Met348fs) duplication Pathogenic 15:91298124-91298124 15:90754894-90754894
55 BLM NM_000057.4(BLM): c.2258T> A (p.Leu753Ter) single nucleotide variant Pathogenic 15:91310204-91310204 15:90766974-90766974
56 BLM NM_000057.4(BLM): c.2353_2354insTT (p.Glu785fs) insertion Pathogenic 15:91312408-91312409 15:90769178-90769179
57 BLM NM_000057.4(BLM): c.600_603AACA[1] (p.Asn202fs) short repeat Pathogenic 15:91293098-91293101 15:90749868-90749871
58 BLM NM_000057.4(BLM): c.619del (p.Asp207fs) deletion Pathogenic 15:91293117-91293117 15:90749887-90749887
59 BLM NM_000057.4(BLM): c.709del (p.Cys237fs) deletion Pathogenic 15:91293207-91293207 15:90749977-90749977
60 BLM NM_000057.4(BLM): c.1546G> T (p.Glu516Ter) single nucleotide variant Pathogenic 15:91304149-91304149 15:90760919-90760919
61 BLM NM_000057.4(BLM): c.2208_2213delinsGATATGT (p.Tyr736_Thr738delinsTer) indel Pathogenic 15:91310154-91310159 15:90766924-90766929
62 BLM NM_000057.4(BLM): c.3496C> T (p.Gln1166Ter) single nucleotide variant Pathogenic 15:91346888-91346888 15:90803658-90803658
63 BLM NC_000015.9: g.(?_91290613)_(91308654_?)del deletion Pathogenic 15:91290613-91308654 15:90747383-90765424
64 BLM NC_000015.9: g.(?_91290613)_(91295186_?)del deletion Pathogenic 15:91290613-91295186 15:90747383-90751956
65 BLM NM_000057.4(BLM): c.991_995del (p.Lys331fs) deletion Pathogenic/Likely pathogenic rs786204524 15:91298072-91298076 15:90754842-90754846
66 BLM NM_000057.4(BLM): c.2250_2251insAAAT (p.Leu751fs) insertion Pathogenic/Likely pathogenic rs786204471 15:91310196-91310197 15:90766966-90766967
67 BLM NM_000057.4(BLM): c.3028del (p.Asp1010fs) deletion Pathogenic/Likely pathogenic rs780379121 15:91337405-91337405 15:90794175-90794175
68 BLM NM_000057.4(BLM): c.2488dup (p.Thr830fs) duplication Pathogenic/Likely pathogenic rs367543019 15:91312749-91312749 15:90769519-90769519
69 BLM NM_000057.4(BLM): c.768_769CT[2] (p.Leu258fs) short repeat Pathogenic/Likely pathogenic rs367543013 15:91293270-91293271 15:90750040-90750041
70 BLM NM_000057.4(BLM): c.3847C> T (p.Gln1283Ter) single nucleotide variant Pathogenic/Likely pathogenic rs367543031 15:91352462-91352462 15:90809232-90809232
71 BLM NM_000057.4(BLM): c.3164G> C (p.Cys1055Ser) single nucleotide variant Pathogenic/Likely pathogenic rs367543029 15:91337541-91337541 15:90794311-90794311
72 BLM NM_000057.4(BLM): c.1642C> T (p.Gln548Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200389141 15:91304245-91304245 15:90761015-90761015