MCID: ATX030
MIFTS: 79

Ataxia-Telangiectasia

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Blood diseases, Immune diseases, Ear diseases

Aliases & Classifications for Ataxia-Telangiectasia

MalaCards integrated aliases for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 57 24 25 59 75 13 38 40
Ataxia Telangiectasia 38 12 76 53 54 75 37 55 43 44 15 73
Louis-Bar Syndrome 57 53 25 59 75
Ataxia-Telangiectasia Variant 59 29 6 73
at 57 53 75
Ataxia-Telangiectasia Syndrome 29 6
At1 57 75
Immunodeficiency with Ataxia Telangiectasia 53
Telangiectasia, Cerebello-Oculocutaneous 25
Cerebello-Oculocutaneous Telangiectasia 53
Ataxia Telangiectasia Syndrome 25
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
V-at 59
a-T 25
Atm 25

Characteristics:

Orphanet epidemiological data:

59
ataxia-telangiectasia
Inheritance: Autosomal recessive; Prevalence: 1-5/10000 (Norway),1-9/1000000 (Norway),1-9/100000 (United States),1-9/1000000 (Europe),1-9/1000000 (Portugal),1-9/1000000 (France),1-9/100000 (Italy); Age of onset: Childhood,Infancy; Age of death: adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
ataxia becomes evident at the end of the first year of life
telangiectasia become evident between the second and eighth year of life
hypersensitivity to ionizing radiation
variant at may present with dystonia only


HPO:

32
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Telangiectasia

NINDS : 54 Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech. The first signs of the disease are unsteady walking and slurred speech, usually occurring during the first five years of life. Telangiectasias (tiny, red "spider" veins), which appear in the corners of the eyes or on the surface of the ears and cheeks, are characteristic of the disease, but are not always present and generally do not appear in the first years of life. About 35 percent of those with A-T develop cancer, most frequently acute lymphocytic leukemia or lymphoma. The most unusual symptom is an acute sensitivity to ionizing radiation, such as X-rays or gamma rays.  Many individuals with A-T have a weakened immune system, making them susceptible to recurrent respiratory infections. Other features of the disease may include mild diabetes mellitus, premature graying of the hair, difficulty swallowing, and delayed physical and sexual development. Children with A-T usually have normal or above normal intelligence.

MalaCards based summary : Ataxia-Telangiectasia, also known as ataxia telangiectasia, is related to ataxia-telangiectasia-like disorder 1 and nijmegen breakage syndrome, and has symptoms including back pain, cerebellar ataxia and headache. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Homologous recombination and Cell cycle. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include eye, skin and brain, and related phenotypes are nystagmus and diabetes mellitus

OMIM : 57 Ataxia-telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy. Chromosomal breakage is a feature. AT cells are abnormally sensitive to killing by ionizing radiation (IR), and abnormally resistant to inhibition of DNA synthesis by ionizing radiation. The latter trait has been used to identify complementation groups for the classic form of the disease (Jaspers et al., 1988). At least 4 of these (A, C, D, and E) map to chromosome 11q23 (Sanal et al., 1990) and are associated with mutations in the ATM gene. (208900)

UniProtKB/Swiss-Prot : 75 Ataxia telangiectasia: A rare recessive disorder characterized by progressive cerebellar ataxia, dilation of the blood vessels in the conjunctiva and eyeballs, immunodeficiency, growth retardation and sexual immaturity. Patients have a strong predisposition to cancer; about 30% of patients develop tumors, particularly lymphomas and leukemias. Cells from affected individuals are highly sensitive to damage by ionizing radiation and resistant to inhibition of DNA synthesis following irradiation.

NIH Rare Diseases : 53 Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. The condition is typically characterized by cerebellar ataxia (uncoordinated muscle movements), oculomotor apraxia, telangiectasias, choreoathetosis (uncontrollable movements of the limbs), a weakened immune system with frequent infections, and an increased risk of cancers such as leukemia and lymphoma. A-T is caused by changes (mutations) in the ATM gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.

MedlinePlus : 43 Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include Ataxia - trouble coordinating movements Poor balance Slurred speech Tiny, red spider veins, called telangiectasias, on the skin and eyes Lung infections Delayed physical and sexual development People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence. A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins. NIH: National Institute of Neurological Disorders and Stroke

Genetics Home Reference : 25 Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. Affected children typically develop difficulty walking, problems with balance and hand coordination, involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). The movement problems typically cause people to require wheelchair assistance by adolescence. People with this disorder also have slurred speech and trouble moving their eyes to look side-to-side (oculomotor apraxia). Small clusters of enlarged blood vessels called telangiectases, which occur in the eyes and on the surface of the skin, are also characteristic of this condition.

Wikipedia : 76 Ataxia-telangiectasia (AT or A-T), also referred to as ataxia-telangiectasia syndrome or Louis–Bar... more...

GeneReviews: NBK26468

Related Diseases for Ataxia-Telangiectasia

Diseases in the Ataxia-Telangiectasia family:

Ataxia-Telangiectasia-Like Disorder 1 Ataxia-Telangiectasia-Like Disorder 2

Diseases related to Ataxia-Telangiectasia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 217, show less)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 34.9 MRE11 NBN
2 nijmegen breakage syndrome 32.1 ATM BRCA1 CHEK2 MRE11 NBN RAD50
3 werner syndrome 30.7 MRE11 NBN RPA1
4 li-fraumeni syndrome 2 30.7 CHEK2 TP53
5 xeroderma pigmentosum, variant type 30.5 ATM RPA1 RPA2 TP53
6 bilateral breast cancer 30.3 ATM BRCA1 CHEK2
7 lymphoma, non-hodgkin, familial 29.9 ATM FAS-AS1 NBN TP53
8 fanconi anemia, complementation group a 28.6 ATM BRCA1 CHEK1 MRE11 NBN RAD50
9 li-fraumeni syndrome 28.5 ATM BRCA1 CDKN1A CHEK1 CHEK2 TP53
10 ovarian cancer 28.4 ATM BRCA1 CDKN1A CHEK2 NBN TP53
11 breast cancer 27.1 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
12 ataxia-telangiectasia-like disorder 2 12.5
13 ataxia-telangiectasia with generalized skin pigmentation and early death 12.2
14 menarche, age at, quantitative trait locus 1 12.0
15 menopause, natural, age at, quantitative trait locus 1 11.9
16 menopause, natural, age at, quantitative trait locus 2 11.9
17 menopause, natural, age at, quantitative trait locus 4 11.9
18 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.9
19 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.9
20 ear antitragus, tag at base of 11.8
21 teeth present at birth 11.8
22 menarche, age at, quantitative trait locus 2 11.8
23 menarche, age at, quantitative trait locus 3 11.8
24 pulmonary fungal infections in patients deemed at risk 11.8
25 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
26 arterial tortuosity syndrome 11.7
27 antithrombin iii deficiency 11.6
28 ceroid lipofuscinosis, neuronal, 1 11.6
29 andersen cardiodysrhythmic periodic paralysis 11.4
30 ocular motor apraxia 11.4
31 cerebellar hypoplasia 11.0
32 anemia, sideroblastic, and spinocerebellar ataxia 11.0
33 nijmegen breakage syndrome-like disorder 10.5 MRE11 RAD50
34 leukemia 10.5
35 lymphoma 10.5
36 uterine corpus serous adenocarcinoma 10.5 BRCA1 TP53
37 lung cancer 10.4
38 synchronous bilateral breast carcinoma 10.4 ATM BRCA1 TP53
39 myxosarcoma 10.4 ATM BRCA1 TP53
40 female breast cancer 10.4 ATM BRCA1 TP53
41 aging 10.3
42 leukemia, acute lymphoblastic 10.3
43 lymphoblastic leukemia 10.3
44 lymphoma, hodgkin, classic 10.3
45 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3
46 neuronitis 10.3
47 actinic cheilitis 10.2 CDKN1A TP53
48 bloom syndrome 10.2
49 gastric cancer 10.2
50 dystonia 10.2
51 invasive bladder transitional cell carcinoma 10.2 CDKN1A TP53
52 suppressor of tumorigenicity 3 10.2 CDKN1A PCNA TP53
53 leukemia, chronic lymphocytic 2 10.1
54 leukemia, chronic lymphocytic 10.1
55 small cell cancer of the lung 10.1
56 myocardial infarction 10.1
57 b-cell lymphomas 10.1
58 hepatitis 10.1
59 squamous cell carcinoma 10.1
60 adenocarcinoma 10.1
61 cerebritis 10.1
62 movement disease 10.1
63 thyroiditis 10.1
64 glioma 10.1
65 leukemia, b-cell, chronic 10.1
66 bladder transitional cell papilloma 10.1 CDKN1A TP53
67 breast-ovarian cancer, familial 1 10.1 BRCA1 NBN
68 sporadic breast cancer 10.1 ATM BRCA1 CHEK2 TP53
69 immunodeficiency with hyper-igm, type 1 10.1
70 diffuse large b-cell lymphoma 10.1
71 hemolytic anemia 10.1
72 apraxia 10.1
73 prolymphocytic leukemia 10.1
74 agammaglobulinemia 10.1
75 pancreatitis 10.1
76 lung disease 10.1
77 herpes simplex 10.1
78 endotheliitis 10.1
79 atypical follicular adenoma 10.0 CDKN1A TP53
80 burkitt lymphoma 10.0
81 hepatocellular carcinoma 10.0
82 diabetes mellitus, noninsulin-dependent 10.0
83 thyroid cancer, nonmedullary, 1 10.0
84 anemia, autoimmune hemolytic 10.0
85 gonadoblastoma 10.0
86 wilms tumor 5 10.0
87 leukemia, acute myeloid 10.0
88 light fixation seizure syndrome 10.0
89 aceruloplasminemia 10.0
90 ovarian cancer 1 10.0
91 ataxia-oculomotor apraxia 3 10.0
92 wilms tumor 6 10.0
93 hepatitis b 10.0
94 mantle cell lymphoma 10.0
95 esophagitis 10.0
96 cystitis 10.0
97 melanoma 10.0
98 pharyngitis 10.0
99 cervicitis 10.0
100 acute t cell leukemia 10.0
101 t-cell leukemia 10.0
102 hodgkin's lymphoma, lymphocytic-histiocytic predominance 10.0
103 myeloid leukemia 10.0
104 cerebellar degeneration 10.0
105 t-cell prolymphocytic leukemia 10.0
106 alzheimer disease 9.8
107 arteries, anomalies of 9.8
108 bladder cancer 9.8
109 colorectal cancer 9.8
110 esophageal cancer 9.8
111 lymphoma, mucosa-associated lymphoid type 9.8
112 glioma susceptibility 1 9.8
113 hashimoto thyroiditis 9.8
114 pulmonary hypertension, primary, 1 9.8
115 retinoblastoma 9.8
116 thrombocytopenic purpura, autoimmune 9.8
117 down syndrome 9.8
118 ataxia-microcephaly-cataract syndrome 9.8
119 chediak-higashi syndrome 9.8
120 cystic fibrosis 9.8
121 melanosis, neurocutaneous 9.8
122 spinal muscular atrophy, type i 9.8
123 neuroblastoma 9.8
124 pancreatic cancer 9.8
125 insulin-like growth factor i 9.8
126 xeroderma pigmentosum, complementation group a 9.8
127 agammaglobulinemia, x-linked 9.8
128 combined immunodeficiency, x-linked 9.8
129 cervical cancer 9.8
130 lung cancer susceptibility 1 9.8
131 human immunodeficiency virus type 1 9.8
132 hepatitis c virus 9.8
133 mutagen sensitivity 9.8
134 lung cancer susceptibility 3 9.8
135 microvascular complications of diabetes 5 9.8
136 infantile liver failure syndrome 1 9.8
137 acute leukemia 9.8
138 acute liver failure 9.8
139 arthritis 9.8
140 cataract 9.8
141 cerebral palsy 9.8
142 common variable immunodeficiency 9.8
143 coronary artery anomaly 9.8
144 diabetes mellitus 9.8
145 hereditary ataxia 9.8
146 liver disease 9.8
147 pancreas adenocarcinoma 9.8
148 spinal muscular atrophy 9.8
149 adenoiditis 9.8
150 paralytic poliomyelitis 9.8
151 seckel syndrome 9.8
152 cervical dystonia 9.8
153 oromandibular dystonia 9.8
154 hemorrhagic cystitis 9.8
155 autosomal recessive cerebellar ataxia 9.8
156 artemis deficiency 9.8
157 immunoglobulin alpha deficiency 9.8
158 pharynx cancer 9.8
159 mucositis 9.8
160 adenoid cystic carcinoma 9.8
161 leukodystrophy 9.8
162 microcephaly 9.8
163 t cell deficiency 9.8
164 bronchopneumonia 9.8
165 leiomyoma 9.8
166 telangiectasis 9.8
167 biliary atresia 9.8
168 prostatitis 9.8
169 hepatitis c 9.8
170 endodermal sinus tumor 9.8
171 hypogonadism 9.8
172 leiomyosarcoma 9.8
173 myoepithelioma 9.8
174 cockayne syndrome 9.8
175 glioblastoma multiforme 9.8
176 interstitial lung disease 9.8
177 papillary carcinoma 9.8
178 rhabdomyosarcoma 9.8
179 purpura 9.8
180 laryngitis 9.8
181 necrobiosis lipoidica 9.8
182 ovarian gonadoblastoma 9.8
183 retinitis 9.8
184 craniopharyngioma 9.8
185 hair disease 9.8
186 familial retinoblastoma 9.8
187 brain edema 9.8
188 poliomyelitis 9.8
189 pneumonia 9.8
190 eosinophilic pneumonia 9.8
191 ovary papillary carcinoma 9.8
192 pulmonary valve stenosis 9.8
193 cowden disease 9.8
194 hepatoblastoma 9.8
195 malignant pleural mesothelioma 9.8
196 muscular atrophy 9.8
197 childhood leukemia 9.8
198 rosacea 9.8
199 chronic eosinophilic pneumonia 9.8
200 distal hereditary motor neuropathies 9.8
201 type i 9.8
202 acardia 9.8
203 glioblastoma 9.8
204 granulocytopenia 9.8
205 growth hormone deficiency 9.8
206 nodular regenerative hyperplasia 9.8
207 nonalcoholic steatohepatitis 9.8
208 oral cancer 9.8
209 thrombasthenia 9.8
210 autonomic dysfunction 9.8
211 hypoxia 9.8
212 megalencephaly 9.8
213 myoclonus 9.8
214 riddle syndrome 9.6 BRCA1 TP53BP1
215 lig4 syndrome 9.5 ATM ATR DCLRE1C NBN PRKDC
216 alpha-thalassemia/mental retardation syndrome, x-linked 9.4 MRE11 NBN PRKDC RAD50 RPA1 TP53
217 hereditary breast ovarian cancer syndrome 9.2 ATM BRCA1 CHEK2 MRE11 NBN RAD50

Graphical network of the top 20 diseases related to Ataxia-Telangiectasia:



Diseases related to Ataxia-Telangiectasia

Symptoms & Phenotypes for Ataxia-Telangiectasia

Symptoms via clinical synopsis from OMIM:

57
Endocrine Features:
diabetes mellitus
delayed puberty
glucose intolerance

Growth Height:
short stature

GenitourinaryInternal GenitaliaMale:
hypogonadism
impaired spermatogenesis

Respiratory Airways:
bronchiectasis
bronchitis

Skin Nails Hair Skin:
cafe-au-lait spots
cutaneous telangiectasia
progeric skin changes
sclerodermatous skin changes

Immunology:
thymus hypoplasia
normal numbers of b cells
defective b cell differentiation
lymphocytopenia
reduced numbers of t cells
more
Neurologic Central Nervous System:
seizures
tremor
myoclonus
dystonia
choreoathetosis
more
Head And Neck Head:
sinusitis

Genitourinary Internal Genitalia Female:
hypogonadism

Neoplasia:
leukemia
hodgkin lymphoma
non-hodgkin lymphoma
increased risk in heterozygotes

Skin Nails Hair Hair:
progeric hair changes

Laboratory Abnormalities:
increased levels of alpha fetoprotein
increased levels of carcinoembryonic antigen
reduced iga levels
reduced ige levels
reduced igg levels, particularly the igg2 subclass
more

Clinical features from OMIM:

208900

Human phenotypes related to Ataxia-Telangiectasia:

59 32 (showing 60, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000639
2 diabetes mellitus 59 32 Frequent (79-30%) HP:0000819
3 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
4 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
5 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
6 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
7 gait disturbance 59 32 hallmark (90%) Very frequent (99-80%) HP:0001288
8 tremor 59 32 hallmark (90%) Very frequent (99-80%) HP:0001337
9 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%) HP:0001508
10 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
11 type ii diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0005978
12 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
13 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
14 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
15 skeletal muscle atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0003202
16 neoplasm 59 32 frequent (33%) Frequent (79-30%) HP:0002664
17 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
18 elevated hepatic transaminases 59 32 hallmark (90%) Very frequent (99-80%) HP:0002910
19 decreased antibody level in blood 59 32 hallmark (90%) Very frequent (99-80%) HP:0004313
20 premature graying of hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002216
21 hypopigmentation of hair 59 32 frequent (33%) Frequent (79-30%) HP:0005599
22 mucosal telangiectasiae 59 32 hallmark (90%) Very frequent (99-80%) HP:0100579
23 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
24 abnormality of the testis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000035
25 polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%) HP:0000147
26 lymphopenia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001888
27 abnormality of chromosome stability 59 32 hallmark (90%) Very frequent (99-80%) HP:0003220
28 cellular immunodeficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0005374
29 multiple cafe-au-lait spots 59 32 occasional (7.5%) Occasional (29-5%) HP:0007565
30 aplasia/hypoplasia of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0008065
31 aplasia/hypoplasia of the thymus 59 32 hallmark (90%) Very frequent (99-80%) HP:0010515
32 abnormality of eye movement 59 Very frequent (99-80%)
33 neurological speech impairment 59 Very frequent (99-80%)
34 immunodeficiency 59 Very frequent (99-80%)
35 abnormality of movement 59 Very frequent (99-80%)
36 sinusitis 32 HP:0000246
37 myoclonus 32 HP:0001336
38 glucose intolerance 32 HP:0000833
39 dystonia 32 HP:0001332
40 reduced tendon reflexes 32 HP:0001315
41 conjunctival telangiectasia 32 HP:0000524
42 abnormality of the immune system 59 Very frequent (99-80%)
43 prematurely aged appearance 59 Very frequent (99-80%)
44 hypoplasia of the thymus 32 HP:0000778
45 lymphoma 32 HP:0002665
46 choreoathetosis 32 HP:0001266
47 abnormality of the hair 32 HP:0001595
48 abnormal spermatogenesis 32 HP:0008669
49 elevated alpha-fetoprotein 32 HP:0006254
50 bronchiectasis 32 HP:0002110
51 iga deficiency 32 HP:0002720
52 cafe-au-lait spot 32 HP:0000957
53 female hypogonadism 32 HP:0000134
54 immunoglobulin igg2 deficiency 32 HP:0008348
55 leukemia 32 HP:0001909
56 hodgkin lymphoma 32 HP:0012189
57 recurrent bronchitis 32 HP:0002837
58 non-hodgkin lymphoma 32 HP:0012539
59 defective b cell differentiation 32 HP:0005357
60 decreased proportion of cd4-positive t cells 32 HP:0005407

UMLS symptoms related to Ataxia-Telangiectasia:


back pain, cerebellar ataxia, headache, myoclonus, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, sleeplessness, cerebellar ataxia/dyskinesia

GenomeRNAi Phenotypes related to Ataxia-Telangiectasia according to GeneCards Suite gene sharing:

26 (showing 60, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 10.82 RPA2
2 Decreased viability GR00221-A-1 10.82 CHEK1 RPA2
3 Decreased viability GR00221-A-2 10.82 CHEK1 CHEK2 RPA2 BRCA1
4 Decreased viability GR00221-A-3 10.82 CHEK1 CHEK2 RPA2 ATM BRCA1
5 Decreased viability GR00221-A-4 10.82 CHEK1 CHEK2 ATM
6 Decreased viability GR00240-S-1 10.82 CHEK1
7 Decreased viability GR00301-A 10.82 CHEK1 BRCA1 RPA1 ATR
8 Decreased viability GR00342-S-2 10.82 CHEK2
9 Decreased viability GR00381-A-1 10.82 CHEK1
10 Decreased viability GR00402-S-2 10.82 CHEK1 CHEK2 RPA2 ATM BRCA1 RPA1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.76 ATM PRKDC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.76 DCLRE1C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.76 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.76 CHEK1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.76 CHEK2 ATM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.76 ATR
17 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.76 CHEK2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.76 DCLRE1C CHEK1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.76 DCLRE1C ATM CHEK1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.76 CHEK2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.76 CHEK1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.76 DCLRE1C CHEK1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.76 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.76 ATM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.76 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.76 ATM
27 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.76 ATM
28 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.76 ATR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.76 CHEK1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.76 ATR
31 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.76 ATR
32 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.76 CHEK2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.76 PRKDC ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.76 ATM
35 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.76 ATM PRKDC
36 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.76 CHEK1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.76 PRKDC
38 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.76 CHEK1
39 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.76 CHEK1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.76 ATR
41 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.76 CHEK1
42 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.76 PRKDC
43 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.76 ATM
44 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.76 ATM
45 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.76 DCLRE1C ATR PRKDC CHEK1 ATM CHEK2
46 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.76 DCLRE1C
47 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.25 PCNA PRKDC RAD50 RPA1 RPA2 TP53
48 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.07 RPA1 TP53 TP53BP1 ATM ATR BRCA1
49 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.07 RPA1 TP53 TP53BP1 ATM ATR BRCA1
50 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.95 ATM ATR CHEK1 CHEK2 PRKDC
51 Increased cell death HMECs cells GR00103-A-0 9.88 ATR BRCA1 CHEK1 PCNA PRKDC TP53
52 Decreased viability after gemcitabine stimulation GR00107-A-2 9.8 ATM ATR CHEK1 PRKDC
53 Decreased telomerase activity GR00156-A 9.71 ATR CHEK1 CHEK2
54 Decreased TP53 mRNA expression GR00389-S-5 9.7 ATM CHEK1 TP53
55 Reduced mammosphere formation GR00396-S 9.7 ATM ATR CHEK1 DCLRE1C PCNA PRKDC
56 Decreased viability after ionizing radiation GR00232-A-2 9.65 ATM BRCA1 PRKDC
57 Decreased viability with cisplatin GR00101-A-4 9.63 ATR BRCA1 RPA1
58 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.61 ATM ATR CHEK1
59 Increased viability with nutlin-3 GR00123-A 9.26 TP53 TP53BP1
60 Synthetic lethal with cisplatin GR00101-A-1 9.26 ATR BRCA1 CHEK1 DCLRE1C

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

46 (showing 16, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.42 APTX RPA1 TP53 TP53BP1 ATM ATR
2 endocrine/exocrine gland MP:0005379 10.36 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3 hematopoietic system MP:0005397 10.32 ATM ATR BRCA1 CDKN1A CHEK2 DCLRE1C
4 immune system MP:0005387 10.31 ATM ATR BRCA1 CDKN1A CHEK2 DCLRE1C
5 growth/size/body region MP:0005378 10.27 ATM ATR BRCA1 CDKN1A NBN NPAT
6 homeostasis/metabolism MP:0005376 10.27 NBN NPAT PRKDC TP53 TP53BP1 TRIM29
7 mortality/aging MP:0010768 10.24 RAD50 RPA1 TP53 TP53BP1 ATM ATR
8 embryo MP:0005380 10.22 ATM ATR BRCA1 CDKN1A CHEK1 MRE11
9 adipose tissue MP:0005375 10.16 ATM ATR BRCA1 CDKN1A PCNA PRKDC
10 neoplasm MP:0002006 10.13 RPA1 TP53 TP53BP1 ATM ATR BRCA1
11 digestive/alimentary MP:0005381 10.08 ATR BRCA1 CDKN1A NPAT PRKDC RAD50
12 integument MP:0010771 10.01 ATM ATR BRCA1 CDKN1A CHEK1 PRKDC
13 nervous system MP:0003631 10 TP53 ATM ATR BRCA1 CDKN1A CHEK2
14 reproductive system MP:0005389 9.77 TP53BP1 ATM ATR BRCA1 CDKN1A CHEK1
15 pigmentation MP:0001186 9.55 ATR BRCA1 PRKDC RAD50 TP53
16 respiratory system MP:0005388 9.17 ATR BRCA1 CDKN1A NPAT PRKDC RAD50

Drugs & Therapeutics for Ataxia-Telangiectasia

Drugs for Ataxia-Telangiectasia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 105, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clonidine Approved Phase 4 4205-90-7 2803
2
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
3 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
4
Polyestradiol phosphate Approved Phase 4 28014-46-2
5
Metformin Approved Phase 4 657-24-9 14219 4091
6
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
7
Amantadine Approved Phase 4 768-94-5 2130
8
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
9 Adrenergic Agents Phase 4
10 Adrenergic Agonists Phase 4
11 Adrenergic alpha-2 Receptor Agonists Phase 4
12 Adrenergic alpha-Agonists Phase 4
13 Analgesics Phase 4
14 Antihypertensive Agents Phase 4
15 Autonomic Agents Phase 4,Phase 3,Not Applicable
16 Contraceptive Agents Phase 4
17 Estradiol 17 beta-cypionate Phase 4
18 Estradiol 3-benzoate Phase 4
19 Estrogens Phase 4
20 Hormone Antagonists Phase 4,Phase 3,Not Applicable
21 Hormones Phase 4,Phase 3,Not Applicable
22 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Not Applicable
23 insulin Phase 4
24 Insulin, Globin Zinc Phase 4
25 Mitogens Phase 4,Phase 2
26 Neurotransmitter Agents Phase 4
27 Peripheral Nervous System Agents Phase 4,Phase 3,Not Applicable
28 Sympatholytics Phase 4
29 Hypoglycemic Agents Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Anti-Infective Agents Phase 4,Phase 2,Not Applicable
32 Antiparkinson Agents Phase 4
33 Antiviral Agents Phase 4,Not Applicable
34 Dopamine Agents Phase 4
35 arginine Nutraceutical Phase 4
36
Dexamethasone Approved, Investigational, Vet_approved Phase 3,Not Applicable 50-02-2 5743
37 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
38 Vaccines Phase 3
39 Antiemetics Phase 3,Not Applicable
40 Anti-Inflammatory Agents Phase 3,Not Applicable
41 Antineoplastic Agents, Hormonal Phase 3,Not Applicable
42 BB 1101 Phase 3,Not Applicable
43 Dexamethasone acetate Phase 3,Not Applicable 1177-87-3
44 Gastrointestinal Agents Phase 3,Not Applicable
45 glucocorticoids Phase 3,Not Applicable
46 Dexamethasone 21-phosphate Phase 3
47 HIV Protease Inhibitors Phase 3
48 Pharmaceutical Solutions Phase 3
49
protease inhibitors Phase 3
50
Caspofungin Approved Phase 2 179463-17-3, 162808-62-0 468682 2826718
51
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
52
Olaparib Approved Phase 2 763113-22-0 23725625
53
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
54
Serine Approved, Nutraceutical Phase 1, Phase 2 56-45-1 5951
55 Antifungal Agents Phase 2
56 Echinocandins Phase 2
57 Antimitotic Agents Phase 2,Phase 1,Not Applicable
58 Antineoplastic Agents, Phytogenic Phase 2,Phase 1,Not Applicable
59 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
60 Albumin-Bound Paclitaxel Phase 2,Phase 1
61 threonine Nutraceutical Phase 1, Phase 2
62 tyrosine Nutraceutical Phase 1, Phase 2
63
Radium Ra 223 dichloride Approved, Investigational Phase 1 444811-40-9
64
Carboplatin Approved Phase 1 41575-94-4 10339178 498142 38904
65
Cyclophosphamide Approved, Investigational Not Applicable 50-18-0, 6055-19-2 2907
66
Cytarabine Approved, Investigational Not Applicable 147-94-4 6253
67
Daunorubicin Approved Not Applicable 20830-81-3 30323
68
Doxorubicin Approved, Investigational Not Applicable 23214-92-8 31703
69
Etoposide Approved Not Applicable 33419-42-0 36462
70
Methotrexate Approved Not Applicable 1959-05-2, 59-05-2 126941
71
Prednisone Approved, Vet_approved Not Applicable 53-03-2 5865
72
Procarbazine Approved, Investigational Not Applicable 671-16-9 4915
73
Vinblastine Approved Not Applicable 865-21-4 13342 241903
74
Vincristine Approved, Investigational Not Applicable 2068-78-2, 57-22-7 5978
75
Baclofen Approved Early Phase 1 1134-47-0 2284
76
Pancrelipase Approved, Investigational 53608-75-6
77
Secretin Approved, Investigational 108153-74-8
78
Folic Acid Approved, Nutraceutical, Vet_approved Not Applicable 59-30-3 6037
79
leucovorin Approved, Nutraceutical Not Applicable 58-05-9 143 6006
80
Doxil Approved June 1999 Not Applicable 31703
81
Butyric Acid Experimental, Investigational Early Phase 1 107-92-6 264
82 Anti-Bacterial Agents Not Applicable
83 Antibiotics, Antitubercular Not Applicable
84 Antibodies Not Applicable
85 Immunoglobulin A Not Applicable
86 Immunoglobulins Not Applicable
87 6-Mercaptopurine Not Applicable
88 Alkylating Agents Not Applicable
89 Antimetabolites Not Applicable
90 Antimetabolites, Antineoplastic Not Applicable
91 Antineoplastic Agents, Alkylating Not Applicable
92 Antirheumatic Agents Not Applicable
93
asparaginase Not Applicable
94 Dermatologic Agents Not Applicable
95 Etoposide phosphate Not Applicable
96 Folic Acid Antagonists Not Applicable
97 Immunosuppressive Agents Not Applicable
98 Nucleic Acid Synthesis Inhibitors Not Applicable
99 Topoisomerase Inhibitors Not Applicable
100 Vitamin B Complex Not Applicable
101 Immunoglobulin G Not Applicable
102 Liver Extracts Not Applicable
103 pancreatin
104 Folate Nutraceutical Not Applicable
105 Vitamin B9 Nutraceutical Not Applicable

Interventional clinical trials:

(showing 31, show less)
# Name Status NCT ID Phase Drugs
1 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
2 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Completed NCT02733679 Phase 4 Metformin;Pioglitazone
3 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
4 Conjugate Pneumococcal Vaccine in Ataxia Telangiectasia (AT) Completed NCT00656409 Phase 3 Conjugated pneumococcal vaccine (Prevenar)
5 EDS in Ataxia Telangiectasia Patients Recruiting NCT02770807 Phase 3 EDS-EP dose range of ~5-10 mg DSP/infusion;EDS-EP dose range of ~14-22 mg DSP/infusion;Placebo
6 Open-label, Long-term, Extension Treatment Using Intra-Erythrocyte Dexamethasone Sodium Phosphate in Patients With Ataxia Telangiectasia Who Participated in the IEDAT-02-2015 Study Not yet recruiting NCT03563053 Phase 3
7 Caspofungin Acetate in Treating Aspergillosis in Patients With Hematologic Cancer or in Patients Who Have Undergone a Stem Cell Transplant Completed NCT00110045 Phase 2 caspofungin acetate
8 To Assess Safety and Efficacy of Agents Targeting DNA Damage Repair With Olaparib Versus Olaparib Monotherapy. Recruiting NCT03330847 Phase 2 Olaparib Continuous (28-Day cycle) 300 mg BD.;AZD6738 160 mg OD + olaparib continuous 300 mg BD (28-day cycle).;AZD1775 175 mg BD + olaparib 200 mg BD (21-day cycle).
9 A Study of AZD6738 and Acalabrutinib in Subjects With Relapsed or Refractory Chronic Lymphocytic Leukemia (CLL) Recruiting NCT03328273 Phase 1, Phase 2 AZD6738;acalabrutinib
10 Efficacy Study of Olaparib With Paclitaxel Versus Paclitaxel in Gastric Cancer Patients Active, not recruiting NCT01063517 Phase 2 olaparib;paclitaxel;Placebo
11 A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002) Withdrawn NCT01244009 Phase 2 MK-4827
12 First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas Recruiting NCT03188965 Phase 1 BAY1895344;Radium-223 dichloride
13 A Study to Assess the Safety and Tolerability of AZD1390 Given With Radiation Therapy in Patients With Brain Cancer Recruiting NCT03423628 Phase 1 AZD1390
14 ATRi Transition Rollover Study Active, not recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
15 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
16 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T Unknown status NCT02285348 Not Applicable
17 The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally Unknown status NCT00951886
18 Body Composition and Hormonal Status in Ataxia Telangiectasia Completed NCT02345200 Not Applicable
19 Susceptibility to Infections in Ataxia Telangiectasia Completed NCT02345135 Not Applicable
20 Study for Treatment of Cancer in Children With Ataxia-telangiectasia Completed NCT00187057 Not Applicable vinblastine, vincristine, prednisone, daunorubicin;doxorubicin, methotrexate, cyclophosphamide, L-asparaginase;etoposide, cytarabine, mercaptopurine;dexamethasone, procarbazine
21 Baclofen Treatment of Ataxia Telangiectasia Completed NCT00640003 Early Phase 1 Baclofen;Placebo
22 International Ataxia Rating Scale in Younger Patients Completed NCT01942850
23 Susceptibility to Infections, Tumor Risk and Liver Disease in Patients With Ataxia Telangiectasia Recruiting NCT03357978 Not Applicable
24 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Recruiting NCT02246491 Not Applicable
25 Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Recruiting NCT02857894
26 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
27 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
28 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
29 The Use of Air Cleaners to Mitigate Cardiopulmonary Health Impact of Indoor Exposure to Particles and Phthalates Recruiting NCT03500614 Not Applicable
30 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable
31 Blood Markers of Early Pancreas Cancer Not yet recruiting NCT03568630

Search NIH Clinical Center for Ataxia-Telangiectasia

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Ataxia-Telangiectasia cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Ataxia-Telangiectasia:
Renexus
Embryonic/Adult Cultured Cells Related to Ataxia-Telangiectasia:
Human retinal stem cells secreting CNTF PMIDs: 16805711 17508034 16505355 23049090 15684670 12581701 15223826 18830926

Cochrane evidence based reviews: ataxia telangiectasia

Genetic Tests for Ataxia-Telangiectasia

Genetic tests related to Ataxia-Telangiectasia:

# Genetic test Affiliating Genes
1 Ataxia-Telangiectasia Syndrome 29 ATM
2 Ataxia-Telangiectasia Variant 29

Anatomical Context for Ataxia-Telangiectasia

MalaCards organs/tissues related to Ataxia-Telangiectasia:

41
Eye, Skin, Brain, Lung, T Cells, Breast, B Cells

Publications for Ataxia-Telangiectasia

Articles related to Ataxia-Telangiectasia:

(showing 1025, show less)
# Title Authors Year
1
Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis? ( 29582093 )
2018
2
3F-Box protein 32 degrades ataxia telangiectasia and Rad3-related and regulates DNA damage response induced by gemcitabine in pancreatic cancer. ( 29805624 )
2018
3
Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia. ( 29866155 )
2018
4
More than ataxia - Movement disorders in ataxia-telangiectasia. ( 29249681 )
2018
5
Atm reactivation reverses ataxia telangiectasia phenotypes in vivo. ( 29472706 )
2018
6
Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature. ( 29600275 )
2018
7
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study. ( 29489040 )
2018
8
B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients. ( 29739685 )
2018
9
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. ( 29290356 )
2018
10
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing. ( 29664460 )
2018
11
The Identification of Potent, Selective, and Orally Available Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase: The Discovery of AZD0156 (8-{6-[3-(Dimethylamino)propoxy]pyridin-3-yl}-3-methyl-1-(tetrahydro-2 H-pyran-4-yl)-1,3-dihydro-2 H-imidazo[4,5- c]quinolin-2-one). ( 29683659 )
2018
12
Ataxia-Telangiectasia-Mutated Protein Expression as a Prognostic Marker in Adenoid Cystic Carcinoma of the Salivary Glands. ( 29978608 )
2018
13
Ataxia telangiectasia mutated kinase deficiency impairs the autophagic response early during myocardial infarction. ( 29652546 )
2018
14
Ataxia-Telangiectasia Mutated Kinase in the Control of Oxidative Stress, Mitochondria, and Autophagy in Cancer: A Maestro With a Large Orchestra. ( 29616191 )
2018
15
Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8. ( 29071822 )
2018
16
Correction to Discovery of Novel 3-Quinoline Carboxamides as Potent, Selective, and Orally Bioavailable Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase. ( 29969258 )
2018
17
Nuclear factor erythroid 2-related factor 2-antioxidant activation through the action of ataxia telangiectasia-mutated serine/threonine kinase is essential to counteract oxidative stress in bovine mammary epithelial cells. ( 29605311 )
2018
18
A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome. ( 29620677 )
2018
19
Ataxia Telangiectasia-Mutated and Rad3-Related Inhibition and Topoisomerase I Trapping Create a Synthetic Lethality in Cancer Cells. ( 29369707 )
2018
20
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. ( 29172151 )
2018
21
Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone. ( 29608596 )
2018
22
Ataxia telangiectasia mutated kinase is an autophagic balancer at the onset of heart failure. ( 29750568 )
2018
23
Ataxia-Telangiectasia Mutated (ATM) Kinase Regulates eNOS Expression and Modulates Radiosensitivity in Endothelial Cells Exposed to Ionizing Radiation. ( 29474156 )
2018
24
<sup>1</sup> H,<sup>15</sup>N, and<sup>13</sup>C chemical shift assignments of the micelle immersed FAT C-terminal (FATC) domains of the human protein kinases ataxia-telangiectasia mutated (ATM) and DNA-dependent protein kinase catalytic subunit (DNA-PKcs) fused to the B1 domain of streptococcal protein G (GB1). ( 29349619 )
2018
25
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. ( 29436738 )
2018
26
Ataxia-telangiectasia gene (<i>ATM</i>) mutation heterozygosity in breast cancer: a narrative review. ( 29719442 )
2018
27
Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy. ( 29396668 )
2018
28
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia. ( 28744812 )
2017
29
Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling. ( 29152614 )
2017
30
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. ( 28351596 )
2017
31
Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel. ( 29163336 )
2017
32
Ataxia telangiectasia and rad3 related (ATR)-promyelocytic leukemia protein (PML) pathway of the DNA damage response in the brain of rats administered arsenic trioxide. ( 29097844 )
2017
33
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families. ( 28981872 )
2017
34
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms. ( 29288088 )
2017
35
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. ( 28196983 )
2017
36
Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis. ( 28543935 )
2017
37
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ( 29170652 )
2017
38
Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients? ( 28778179 )
2017
39
The clinical significance of complete class switching defect in Ataxia telangiectasia patients. ( 28162005 )
2017
40
B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection. ( 28701397 )
2017
41
Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease. ( 28746835 )
2017
42
Neurofibromatosis type-1 in a patient with ataxia-telangiectasia. ( 29237983 )
2017
43
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis. ( 28716242 )
2017
44
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. ( 28477134 )
2017
45
Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions. ( 28929041 )
2017
46
Assaying Radiosensitivity of Ataxia-Telangiectasia. ( 28477107 )
2017
47
The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research. ( 28825373 )
2017
48
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. ( 28012542 )
2017
49
Growth hormone treatment in patients with ataxia telangiectasia. ( 28948852 )
2017
50
A meta-analysis of the relationship between ataxia-telangiectasia mutated gene polymorphisms and lung cancer susceptibility. ( 28756982 )
2017
51
Ataxia-telangiectasia: Immunodeficiency and survival. ( 28126470 )
2017
52
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. ( 28082406 )
2017
53
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. ( 28120234 )
2017
54
Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization. ( 28698541 )
2017
55
Ataxia telangiectasia syndrome: moonlighting ATM. ( 29034753 )
2017
56
Ataxia-Telangiectasia Mutated Modulation of Carbon Metabolism in Cancer. ( 29238697 )
2017
57
Role of ataxia-telangiectasia mutated in hydrogen peroxide preconditioning against oxidative stress in Neuro-2a cells. ( 28487983 )
2017
58
Ataxia Telangiectasia-Mutated (ATM)Polymorphisms and Risk of Lung Cancer in a Chinese Population. ( 28642860 )
2017
59
Ataxia-Telangiectasia patients get a rare chance to meet the experts at a dedicated workshop in IFOM (the FIRC Institute of Molecular Oncology). ( 28596805 )
2017
60
Inhibition of ataxia telangiectasia related-3 (ATR) improves therapeutic index in preclinical models of non-small cell lung cancer (NSCLC) radiotherapy. ( 28697853 )
2017
61
New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutation. ( 28123174 )
2017
62
Transcriptional regulation of ataxia-telangiectasia and Rad3-related protein by activated p21-activated kinase-1 protects keratinocytes in UV-B-induced premalignant skin lesions. ( 28692051 )
2017
63
Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome. ( 29456787 )
2017
64
Refractory status dystonicus in ataxia telangiectasia. ( 28084263 )
2017
65
Discovery of pyrazolopyrimidine derivatives as novel inhibitors of ataxia telangiectasia and rad3 related protein (ATR). ( 28131712 )
2017
66
Ataxia Telangiectasia and Cancer Predisposition: Challenges in Management. ( 29200166 )
2017
67
Ataxia-telangiectasia: recommendations for multidisciplinary treatment. ( 28318010 )
2017
68
T-cell prolymphocytic leukemia in an adolescent with ataxia-telangiectasia: novel approach with a JAK3 inhibitor (tofacitinib). ( 29296924 )
2017
69
Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy. ( 28782291 )
2017
70
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. ( 29155101 )
2017
71
Ataxia-Telangiectasia Mutated (ATM) Protein Signaling Participates in Development of Pulmonary Arterial Hypertension in Rats. ( 28894083 )
2017
72
Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks. ( 29081736 )
2017
73
Multidisciplinary care of children and young people with ataxia-telangiectasia. ( 28338211 )
2017
74
A new ataxia-telangiectasia mutation in an 11-year-old female. ( 28488180 )
2017
75
Haplodeficiency of Ataxia Telangiectasia Mutated Accelerates Heart Failure After Myocardial Infarction. ( 28724653 )
2017
76
Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone. ( 27933465 )
2016
77
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
78
Treatment of acute leukemia in children with ataxia telangiectasia (A-T). ( 27238889 )
2016
79
Enhanced gefitinib-induced repression of the epidermal growth factor receptor pathway by ataxia telangiectasia-mutated kinase inhibition in non-small-cell lung cancer cells. ( 26825989 )
2016
80
Ataxia telangiectasia mutated (ATM), could it be another useful biomarker for the successful treatment with the poly (ADP-ribose) polymerase inhibitor? ( 28138571 )
2016
81
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia. ( 27214374 )
2016
82
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. ( 26662178 )
2016
83
Ataxia-telangiectasia mutated activation mediates tumor necrosis factor-alpha induced MMP-13 up-regulation and metastasis in lung cancer cells. ( 27556690 )
2016
84
Reply to Comment on: Treatment of EBV-Associated Nodular Sclerosing Hodgkin Lymphoma in a Patient With Ataxia Telangiectasia With Brentuximab Vedotin and Reduced COPP Plus Rituximab. ( 26739927 )
2016
85
Gene-environment interaction for polymorphisms in ataxia telangiectasia-mutated gene and radiation exposure in carcinogenesis: results from two literature-based meta-analyses of 27120 participants. ( 27764772 )
2016
86
NAD<sup>+</sup>Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair. ( 27732836 )
2016
87
Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T). ( 27879207 )
2016
88
Serum Interleukin-6 Levels and Pulmonary Function inA Ataxia-Telangiectasia. ( 26851119 )
2016
89
Single Nucleotide Polymorphism rs1801516 in Ataxia Telangiectasia-Mutated Gene Predicts Late Fibrosis in Cancer Patients After Radiotherapy: A PRISMA-Compliant Systematic Review and Meta-Analysis. ( 27057881 )
2016
90
Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. ( 26891003 )
2016
91
Ataxia telangiectasia: presentation and diagnostic delay. ( 27799156 )
2016
92
Ataxia telangiectasia: a syndrome deserving attention and study. ( 27265211 )
2016
93
Dexamethasone improves redox state in Ataxia Telangiectasia cells by promoting NRF2-mediated antioxidant response. ( 27636396 )
2016
94
Small-molecule inhibitors of Ataxia Telangiectasia and Rad3 related kinase (ATR) sensitize lymphoma cells to UVA radiation. ( 27743911 )
2016
95
Ataxia telangiectasia associated with nodular regenerative hyperplasia. ( 27671921 )
2016
96
Targeting the ataxia telangiectasia mutated pathway for effective therapy against hirsutine-resistant breast cancer cells. ( 27347141 )
2016
97
MEK inhibitors block growth of lung tumours with mutations in ataxia-telangiectasia mutated. ( 27922010 )
2016
98
Magnetic resonance imaging of ataxia-telangiectasia. ( 26954959 )
2016
99
Ataxia telangiectasia mutated (ATM) interacts with p400 ATPase for an efficient DNA damage response. ( 27814680 )
2016
100
Loss of ataxia-telangiectasia-mutated protein expression correlates with poor prognosis but benefits from anthracycline-containing adjuvant chemotherapy in breast cancer. ( 27329169 )
2016
101
Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. ( 27159176 )
2016
102
Ataxia-telangiectasia mutated interactor regulates head and neck cancer metastasis via KRas expression. ( 28012797 )
2016
103
Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs. ( 27613453 )
2016
104
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders. ( 27871447 )
2016
105
Ataxia telangiectasia-mutated kinase deficiency exacerbates left ventricular dysfunction and remodeling late after myocardial infarction. ( 27288435 )
2016
106
Cerebral microbleeds and iron depletion of dentate nuclei in ataxia-telangiectasia. ( 27597554 )
2016
107
Growth and nutrition in children with ataxia telangiectasia. ( 27573920 )
2016
108
Ataxia telangiectasia: a review. ( 27884168 )
2016
109
Ataxia telangiectasia, menkes kinky hair disease, neurocutaneous melanosis: a review of these neurocutaneous syndromes and indications for clinical practice. ( 27002302 )
2016
110
Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance. ( 26606753 )
2016
111
Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells. ( 27596957 )
2016
112
Does Ataxia Telangiectasia Mutated (ATM) protect testicular and germ cell DNA integrity by regulating the redox status? ( 27318254 )
2016
113
Comment on: Treatment of EBV-Associated Nodular Sclerosing Hodgkin Lymphoma in a Patient With Ataxia Telangiectasia With Brentuximab Vedotin and Reduced COPP Plus Rituximab. ( 26719151 )
2016
114
Discovery of Novel 3-Quinoline Carboxamides as Potent, Selective, and Orally Bioavailable Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase. ( 27259031 )
2016
115
Silencing of ataxia-telangiectasia mutated by siRNA enhances the in vitro and in vivo radiosensitivity of glioma. ( 27108486 )
2016
116
Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer. ( 27602502 )
2016
117
Novel ATM mutations with ataxia-telangiectasia. ( 26628246 )
2016
118
Bilateral maculopathy in a patient with ataxia telangiectasia. ( 26917084 )
2016
119
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. ( 27664052 )
2016
120
Corynebacterium propinquum bronchopneumonia in a child with ataxia telangiectasia. ( 28621102 )
2016
121
Longitudinal analysis of the neurological features of ataxia-telangiectasia. ( 26896183 )
2016
122
Childhood colon cancer in a patient with ataxia telangiectasia. ( 26855947 )
2016
123
Ataxia telangiectasia mutated in cardiac fibroblasts regulates doxorubicin-induced cardiotoxicity. ( 26862121 )
2016
124
Ataxia-Telangiectasia (A-T): An Emerging Dimension of Premature Ageing. ( 27181190 )
2016
125
Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated. ( 28260489 )
2016
126
Medical Management of Pediatric Malignant Bowel Obstruction in a Patient with Burkitt's Lymphoma and Ataxia Telangiectasia Using Continuous Ambulatory Drug Delivery System. ( 26862790 )
2016
127
The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment. ( 27538496 )
2016
128
Small Molecules Targeting Ataxia Telangiectasia and Rad3-Related (ATR) Kinase: An Emerging way to Enhance Existing Cancer Therapy. ( 26882028 )
2016
129
A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype. ( 28007901 )
2016
130
Analysis of Residual DSBs in Ataxia-Telangiectasia Lymphoblast Cells Initiating Apoptosis. ( 27057549 )
2016
131
Quantitative phosphoproteomics of the ataxia telangiectasia-mutated (ATM) and ataxia telangiectasia-mutated and rad3-related (ATR) dependent DNA damage response in Arabidopsis thaliana. ( 25561503 )
2015
132
Time, Dose and Ataxia Telangiectasia Mutated (ATM) Status Dependency of Coding and Noncoding RNA Expression after Ionizing Radiation Exposure. ( 25738893 )
2015
133
A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease. ( 26374845 )
2015
134
Ataxia-telangiectasia-mutated protein kinase levels stratify patients with pancreatic adenocarcinoma into prognostic subgroups with loss being a strong indicator of poor survival. ( 25423555 )
2015
135
Ataxia Telangiectasia Mutated (ATM) Dysregulation Results in Diabetic Retinopathy. ( 26502796 )
2015
136
Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome. ( 26220245 )
2015
137
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. ( 25572163 )
2015
138
ATDC (Ataxia Telangiectasia Group D Complementing) Promotes Radioresistance through an Interaction with the RNF8 Ubiquitin Ligase. ( 26381412 )
2015
139
Primary Diffuse Large B-cell Lymphoma Arising in the Tongue Accompanied by Ataxia-telangiectasia: A Case Report. ( 26266230 )
2015
140
Development of global rating instruments for pediatric patients with ataxia telangiectasia. ( 26493850 )
2015
141
Ataxia telangiectasia. ( 26564081 )
2015
142
Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Proteins in Epithelial Ovarian Carcinoma: Their Expression and Clinical Significance. ( 26124337 )
2015
143
Caffeine Suppresses Apoptosis of Bladder Cancer RT4 Cells in Response to Ionizing Radiation by Inhibiting Ataxia Telangiectasia Mutated-Chk2-p53 Axis. ( 26521794 )
2015
144
Trovafloxacin-induced replication stress sensitizes HepG2 cells to tumor necrosis factor-alpha-induced cytotoxicity mediated by extracellular signal-regulated kinase and ataxia telangiectasia and Rad3-related. ( 25748550 )
2015
145
Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study. ( 26413479 )
2015
146
Epstein-barr virus-associated extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT Lymphoma) arising in the parotid gland of a child with ataxia telangiectasia. ( 25692616 )
2015
147
Myoclonus in ataxia-telangiectasia. ( 25793145 )
2015
148
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report. ( 26380989 )
2015
149
Ataxia telangiectasia mutated inhibits oxidative stress-induced apoptosis by regulating heme oxygenase-1 expression. ( 25592228 )
2015
150
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia. ( 25882094 )
2015
151
Interaction of Heat Shock Protein Cpn10 with the Cyclin E/Cdk2 Substrate Nuclear Protein Ataxia-Telangiectasia (NPAT) Is Involved in Regulating Histone Transcription. ( 26429916 )
2015
152
Interleukin 6 trigged ataxia-telangiectasia mutated activation facilitates lung cancer metastasis via MMP-3/MMP-13 up-regulation. ( 26528698 )
2015
153
Efficacy of Rituximab in Refractory Cold Agglutinin Hemolytic Anemia in a Patient with Ataxia-Telangiectasia. ( 26357726 )
2015
154
Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants. ( 25840602 )
2015
155
Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM. ( 24568663 )
2015
156
Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention. ( 25656498 )
2015
157
Ataxia-telangiectasia mutated (ATM) silencing promotes neuroblastoma progression through a MYCN independent mechanism. ( 26053094 )
2015
158
Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin. ( 25881033 )
2015
159
Ataxia-telangiectasia mutated (ATM) participates in the regulation of ionizing radiation-induced cell death via MAPK14 in lung cancer H1299 cells. ( 26269117 )
2015
160
Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective. ( 26439923 )
2015
161
Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia. ( 25884015 )
2015
162
Cough ability measurements and recurrent respiratory symptoms in individuals with Ataxia Telangiectasia. ( 26364772 )
2015
163
Ataxia telangiectasia mutated kinase mediates NF-I_B serine 276 phosphorylation and interferon expression via the IRF7-RIG-I amplification loop in paramyxovirus infection. ( 25520509 )
2015
164
Treatment of EBV-associated nodular sclerosing Hodgkin lymphoma in a patient with ataxia telangiectasia with brentuximab vedotin and reduced COPP plus rituximab. ( 26109475 )
2015
165
Role of ataxia-telangiectasia mutated (ATM) in porcine oocyte in vitro maturation. ( 25598069 )
2015
166
A novel mouse model for ataxia-telangiectasia with a N-terminal mutation displays a behavioral defect and a low incidence of lymphoma but no increased oxidative burden. ( 26310626 )
2015
167
Ataxia Telangiectasia-Mutated Gene Polymorphisms and Acute Normal Tissue Injuries in Cancer Patients After Radiation Therapy: A Systematic Review and Meta-analysis. ( 25832699 )
2015
168
NADPH oxidase 4 is a critical mediator in Ataxia telangiectasia disease. ( 25646414 )
2015
169
Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases. ( 26815515 )
2015
170
Body composition, muscle strength and hormonal status in patients with ataxia telangiectasia: a cohort study. ( 26645295 )
2015
171
Decarbamoyl mitomycin C (DMC) activates p53-independent ataxia telangiectasia and rad3 related protein (ATR) chromatin eviction. ( 25565400 )
2015
172
Ataxia telangiectasia. ( 26200064 )
2015
173
Mutation of ataxia-telangiectasia mutated is associated with dysfunctional glutathione homeostasis in cerebellar astroglia. ( 26469940 )
2015
174
MutL homolog 1 contributes to temozolomide-induced autophagy via ataxia-telangiectasia mutated in glioma. ( 25646660 )
2015
175
Ataxia-telangiectasia-mutated protein expression with microsatellite instability in gastric cancer as prognostic marker. ( 23649938 )
2014
176
Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability. ( 24970375 )
2014
177
Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia. ( 25060036 )
2014
178
Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia? ( 25280033 )
2014
179
Vesical telangiectasias in a patient with ataxia telangiectasia. ( 25867155 )
2014
180
Ataxia-telangiectasia: future prospects. ( 25258552 )
2014
181
The development of ataxia telangiectasia mutated kinase inhibitors. ( 25307308 )
2014
182
Linear growth and endocrine function in children with ataxia telangiectasia. ( 25538885 )
2014
183
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ( 24733832 )
2014
184
Interleukin 6 augments lung cancer chemotherapeutic resistance via ataxia-telangiectasia mutated/NF-kappaB pathway activation. ( 24988892 )
2014
185
Nonalcoholic steatohepatitis in a patient with ataxia-telangiectasia. ( 25374730 )
2014
186
Hepatitis B virus X stimulates redox signaling through activation of ataxia telangiectasia mutated kinase. ( 24966912 )
2014
187
Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene. ( 24422204 )
2014
188
[Mosaic forms of ataxia-telangiectasia]. ( 25697008 )
2014
189
Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia. ( 24342190 )
2014
190
Ten new ATM alterations in Polish patients with ataxia-telangiectasia. ( 25614872 )
2014
191
Autoimmune hemolytic anemia in a patient with probable ataxia telangiectasia: a case report. ( 25265999 )
2014
192
Healing of Granulomatous Skin Changes in Ataxia-Telangiectasia After Treatment with Intravenous Immunoglobulin and Topical Mometasone 0.1% Ointment. ( 25236668 )
2014
193
Interactions Between Ataxia Telangiectasia Mutated Kinase Inhibition, Poly(ADP-ribose) Polymerase-1 Inhibition and BRCA1 Status in Breast Cancer Cells. ( 25337581 )
2014
194
Glutamine deprivation induces interleukin-8 expression in ataxia telangiectasia fibroblasts. ( 24413629 )
2014
195
Activation of the prereplication complex is blocked by mimosine through reactive oxygen species-activated ataxia telangiectasia mutated (ATM) protein without DNA damage. ( 24421316 )
2014
196
Nitric oxide induces ataxia telangiectasia mutated (ATM) protein-dependent I^H2AX protein formation in pancreatic I^ cells. ( 24610783 )
2014
197
Pulmonary function in children and young adults with ataxia telangiectasia. ( 23401357 )
2014
198
Cerebral abnormalities in adults with ataxia-telangiectasia. ( 23886747 )
2014
199
Pilot study of modified LMB-based therapy for children with ataxia-telangiectasia and advanced stage high grade mature B-cell malignancies. ( 23900766 )
2014
200
Immune Deficiency in Ataxia Telangiectasia - A Longitudinal Study of 44 patients. ( 24387201 )
2014
201
The development of ataxia telangiectasia mutated kinase inhibitors. ( 25138084 )
2014
202
Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma. ( 25196645 )
2014
203
Association between a gene variant near ataxia telangiectasia mutated and coronary artery disease in men. ( 24281401 )
2014
204
Recently emerging signaling landscape of ataxia-telangiectasia mutated (ATM) kinase. ( 25169474 )
2014
205
Targeting the Ataxia Telangiectasia Mutated protein in cancer therapy. ( 25382204 )
2014
206
Phosphorylation of the BRCA1 C terminus (BRCT) repeat inhibitor of hTERT (BRIT1) protein coordinates TopBP1 protein recruitment and amplifies ataxia telangiectasia-mutated and Rad3-related (ATR) Signaling. ( 25301947 )
2014
207
Detection of acute lymphoblastic leukemia involvement in pleural fluid in an adult patient with ataxia telangiectasia by flow cytometry method. ( 25332541 )
2014
208
A rare case of ataxia telangiectasia in a 9-year-old female child. ( 25152967 )
2014
209
Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients. ( 25042086 )
2014
210
Allele and genotype frequency of a genetic variant in ataxia telangiectasia mutated gene affecting glycemic response to metformin in South Indian population. ( 25364682 )
2014
211
The PSO4 protein complex associates with replication protein A (RPA) and modulates the activation of ataxia telangiectasia-mutated and Rad3-related (ATR). ( 24443570 )
2014
212
Improved ataxia telangiectasia mutated kinase inhibitor KU60019 provides a promising treatment strategy for non-invasive breast cancer. ( 25289090 )
2014
213
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. ( 24631270 )
2014
214
MiR-26a enhances the radiosensitivity of glioblastoma multiforme cells through targeting of ataxia-telangiectasia mutated. ( 24211747 )
2014
215
Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer. ( 25193705 )
2014
216
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. ( 25122203 )
2014
217
The ataxia telangiectasia mutated and cyclin D3 proteins cooperate to help enforce TCRI^ and IgH allelic exclusion. ( 25127855 )
2014
218
Ataxia telangiectasia mutated and Rad3 related (ATR) protein kinase inhibition is synthetically lethal in XRCC1 deficient ovarian cancer cells. ( 23451157 )
2013
219
MicroRNA-18a attenuates DNA damage repair through suppressing the expression of ataxia telangiectasia mutated in colorectal cancer. ( 23437304 )
2013
220
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. ( 23143971 )
2013
221
Ataxia telangiectasia-mutated (ATM) kinase activity is regulated by ATP-driven conformational changes in the Mre11/Rad50/Nbs1 (MRN) complex. ( 23525106 )
2013
222
SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs. ( 23652012 )
2013
223
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. ( 23566627 )
2013
224
Long-term survival after allogeneic-matched sibling PBSC transplantation with conditioning consisting of low-dose busilvex and fludarabine in a 3-year-old boy with ataxia-telangiectasia syndrome and ALL. ( 23103677 )
2013
225
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. ( 23807571 )
2013
226
ISG15 deregulates autophagy in genotoxin-treated ataxia telangiectasia cells. ( 23212917 )
2013
227
Oxidative DNA damage is involved in ochratoxin A-induced G2 arrest through ataxia telangiectasia-mutated (ATM) pathways in human gastric epithelium GES-1 cells in vitro. ( 23515941 )
2013
228
Ataxia telangiectasia mutated (ATM) is dispensable for endonuclease I-SceI-induced homologous recombination in mouse embryonic stem cells. ( 23355489 )
2013
229
MicroRNA-18a upregulates autophagy and ataxia telangiectasia mutated gene expression in HCT116 colon cancer cells. ( 23229340 )
2013
230
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. ( 23946315 )
2013
231
Radiation therapy and adjuvant chemotherapy in a patient with a malignant glioneuronal tumor and underlying ataxia telangiectasia: a case report and review of the literature. ( 22689803 )
2013
232
Ataxia-telangiectasia group D complementing gene (ATDC) promotes lung cancer cell proliferation by activating NF-I_B pathway. ( 23776433 )
2013
233
Ataxia telangiectasia mutated impacts insulin-like growth factor 1 signalling in skeletal muscle. ( 22941977 )
2013
234
Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging. ( 23975689 )
2013
235
Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate. ( 22550086 )
2013
236
The ataxia telangiectasia mutated kinase controls IgI_ allelic exclusion by inhibiting secondary VI_-to-JI_ rearrangements. ( 23382544 )
2013
237
Molecular defects in Moroccan patients with ataxia-telangiectasia. ( 23322442 )
2013
238
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. ( 23632773 )
2013
239
DNA-dependent Protein Kinase Regulates DNA End Resection in Concert with Mre11-Rad50-Nbs1 (MRN) and Ataxia Telangiectasia-mutated (ATM). ( 24220101 )
2013
240
Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia. ( 23884713 )
2013
241
4-Hydroxynonenal induces G2/M phase cell cycle arrest by activation of the ataxia telangiectasia mutated and Rad3-related protein (ATR)/checkpoint kinase 1 (Chk1) signaling pathway. ( 23733185 )
2013
242
The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration. ( 23731731 )
2013
243
The relationship between nutritional status, vitamin A and zinc levels and oxidative stress in patients with ataxia-telangiectasia. ( 23769738 )
2013
244
Non-hodgkin B-cell lymphoma of the ovary in a child with Ataxia-telangiectasia. ( 23312583 )
2013
245
Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab. ( 23389503 )
2013
246
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ( 23436002 )
2013
247
Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia. ( 23956159 )
2013
248
Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant. ( 23509889 )
2013
249
Effects of ataxia telangiectasia mutated (ATM) genotypes and smoking habits on lung cancer risk in Taiwan. ( 24023351 )
2013
250
Dermatologic manifestations of ataxia-telangiectasia syndrome. ( 23360865 )
2013
251
Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task. ( 22763152 )
2013
252
Disorders of Upper Limb Movements in Ataxia-Telangiectasia. ( 23826191 )
2013
253
Ataxia-telangiectasia mutated kinase-mediated upregulation of NKG2D ligands on leukemia cells by resveratrol results in enhanced natural killer cell susceptibility. ( 23445485 )
2013
254
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. ( 24090759 )
2013
255
Inhibition of Ataxia Telangiectasia Mutated (ATM) Kinase Suppresses Herpes Simplex Virus Type 1 (HSV-1) Keratitis. ( 24370835 )
2013
256
The p53 pathway induction is not primarily dependent on Ataxia Telangiectasia Mutated (ATM) gene activity after fludarabine treatment in chronic lymphocytic leukemia cells. ( 23808769 )
2013
257
Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia. ( 23598976 )
2013
258
Upregulated ataxia-telangiectasia group D complementing gene correlates with poor prognosis in patients with esophageal squamous cell carcinoma. ( 23020249 )
2013
259
Deficiency of ataxia telangiectasia mutated kinase modulates cardiac remodeling following myocardial infarction: involvement in fibrosis and apoptosis. ( 24358288 )
2013
260
Concordance of ATM (ataxia telangiectasia mutated) immunohistochemistry between biopsy or metastatic tumor samples and primary tumors in gastric cancer