MCID: ATX030
MIFTS: 80

Ataxia-Telangiectasia

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

Aliases & Classifications for Ataxia-Telangiectasia

MalaCards integrated aliases for Ataxia-Telangiectasia:

Name: Ataxia-Telangiectasia 53 23 24 55 71 13 37
Ataxia Telangiectasia 37 12 72 49 50 71 36 51 40 41 14 69
Louis-Bar Syndrome 53 49 24 55 71
Ataxia-Telangiectasia Variant 55 28 69
at 53 49 71
At1 53 71
Immunodeficiency with Ataxia Telangiectasia 49
Telangiectasia, Cerebello-Oculocutaneous 24
Cerebello-Oculocutaneous Telangiectasia 49
Ataxia Telangiectasia Syndrome 24
Ataxia-Telangiectasia Syndrome 28
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
V-at 55
a-T 24
Atm 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:

31
ataxia-telangiectasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ataxia-Telangiectasia

NINDS : 50 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 ataxia, seizures and tremor. 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 Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

OMIM : 53 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 : 71 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 : 49 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. Last updated: 4/5/2016

MedlinePlus : 40 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 : 24 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.

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 221, show less)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 34.6 MRE11 NBN
2 nijmegen breakage syndrome 32.1 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
3 li-fraumeni syndrome 2 30.3 CHEK2 TP53
4 xeroderma pigmentosum, variant type 30.1 RPA1 RPA2 TP53
5 bilateral breast cancer 30.1 ATM BRCA1 CHEK2
6 artemis deficiency 29.5 DCLRE1C H2AFX PRKDC
7 li-fraumeni syndrome 28.9 ATM BRCA1 CDKN1A CHEK1 CHEK2 TP53
8 breast cancer 28.8 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
9 fanconi anemia, complementation group a 28.7 ATM BRCA1 CHEK1 H2AFX MRE11 NBN
10 ataxia-telangiectasia-like disorder 2 12.4
11 ataxia-telangiectasia with generalized skin pigmentation and early death 12.1
12 menarche, age at, quantitative trait locus 1 12.0
13 menopause, natural, age at, quantitative trait locus 1 11.9
14 menopause, natural, age at, quantitative trait locus 2 11.9
15 menopause, natural, age at, quantitative trait locus 4 11.9
16 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.9
17 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.9
18 ear antitragus, tag at base of 11.8
19 teeth present at birth 11.8
20 menarche, age at, quantitative trait locus 2 11.8
21 menarche, age at, quantitative trait locus 3 11.8
22 pulmonary fungal infections in patients deemed at risk 11.8
23 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
24 arterial tortuosity syndrome 11.7
25 antithrombin iii deficiency 11.6
26 ceroid lipofuscinosis, neuronal, 1 11.6
27 andersen cardiodysrhythmic periodic paralysis 11.5
28 ocular motor apraxia 11.4
29 ataxia and polyneuropathy, adult-onset 11.3
30 cerebellar hypoplasia 11.1
31 anemia, sideroblastic, and spinocerebellar ataxia 11.1
32 leukemia 10.5
33 lymphoma 10.5
34 lung cancer 10.4
35 brca1 hereditary breast and ovarian cancer syndrome 10.3 BRCA1 NBN
36 nijmegen breakage syndrome-like disorder 10.3 MRE11 RAD50
37 breast-ovarian cancer, familial 1 10.3 BRCA1 NBN
38 aging 10.3
39 lymphoblastic leukemia 10.3
40 synchronous bilateral breast carcinoma 10.3 ATM BRCA1 TP53
41 uterine corpus serous adenocarcinoma 10.3 BRCA1 TP53
42 lymphoma, hodgkin, classic 10.3
43 immunodeficiency-centromeric instability-facial anomalies syndrome 1 10.3
44 neuronitis 10.3
45 squamous cell carcinoma of the larynx 10.2 PCNA TP53
46 myxosarcoma 10.2 ATM BRCA1 TP53
47 bloom syndrome 10.2
48 gastric cancer 10.2
49 dystonia 10.2
50 actinic cheilitis 10.2 CDKN1A TP53
51 leukemia, chronic lymphocytic 2 10.1
52 fibrosis of extraocular muscles, congenital, 1 10.1
53 leukemia, chronic lymphocytic 10.1
54 small cell cancer of the lung 10.1
55 multiple mitochondrial dysfunctions syndrome 5 10.1
56 b-cell lymphomas 10.1
57 hepatitis 10.1
58 squamous cell carcinoma 10.1
59 adenocarcinoma 10.1
60 cerebritis 10.1
61 thyroiditis 10.1
62 glioma 10.1
63 leukemia, b-cell, chronic 10.1
64 invasive bladder transitional cell carcinoma 10.1 CDKN1A TP53
65 suppressor of tumorigenicity 3 10.1 CDKN1A PCNA TP53
66 werner syndrome 10.1
67 immunodeficiency with hyper-igm, type 1 10.1
68 lymphoma, non-hodgkin, familial 10.1
69 myocardial infarction 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 lung disease 10.1
76 herpes simplex 10.1
77 bladder transitional cell papilloma 10.1 CDKN1A TP53
78 sporadic breast cancer 10.1 ATM BRCA1 CHEK2 TP53
79 blood group, i system 10.0
80 burkitt lymphoma 10.0
81 thyroid cancer, nonmedullary, 1 10.0
82 x-ray sensitivity 10.0
83 anemia, autoimmune hemolytic 10.0
84 gonadoblastoma 10.0
85 wilms tumor 5 10.0
86 leukemia, acute myeloid 10.0
87 light fixation seizure syndrome 10.0
88 aceruloplasminemia 10.0
89 ovarian cancer 1 10.0
90 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 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 t-cell leukemia 10.0
101 hodgkin's lymphoma, lymphocytic-histiocytic predominance 10.0
102 myeloid leukemia 10.0
103 cerebellar degeneration 10.0
104 endotheliitis 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 hepatocellular carcinoma 9.8
111 esophageal cancer 9.8
112 lymphoma, mucosa-associated lymphoid type 9.8
113 glioma susceptibility 1 9.8
114 hashimoto thyroiditis 9.8
115 keratitis, hereditary 9.8
116 neurofibromatosis, type iv, of riccardi 9.8
117 ovarian cancer 9.8
118 polykaryocytosis inducer 9.8
119 progeroid short stature with pigmented nevi 9.8
120 pulmonary hypertension, primary, 1 9.8
121 retinoblastoma 9.8
122 down syndrome 9.8
123 ataxia-microcephaly-cataract syndrome 9.8
124 cystic fibrosis 9.8
125 macrocephaly/megalencephaly syndrome, autosomal recessive 9.8
126 melanosis, neurocutaneous 9.8
127 spinal muscular atrophy, type i 9.8
128 neuroblastoma 9.8
129 popliteal pterygium syndrome, lethal type 9.8
130 insulin-like growth factor i 9.8
131 xeroderma pigmentosum, complementation group a 9.8
132 agammaglobulinemia, x-linked 9.8
133 combined immunodeficiency, x-linked 9.8
134 hypercholesterolemia, autosomal dominant, 3 9.8
135 cervical cancer 9.8
136 vitiligo-associated multiple autoimmune disease susceptibility 1 9.8
137 lung cancer susceptibility 1 9.8
138 human immunodeficiency virus type 1 9.8
139 hepatitis c virus 9.8
140 mutagen sensitivity 9.8
141 microvascular complications of diabetes 5 9.8
142 infantile liver failure syndrome 1 9.8
143 alpha-fetoprotein deficiency 9.8
144 hydrops, lactic acidosis, and sideroblastic anemia 9.8
145 acute leukemia 9.8
146 acute liver failure 9.8
147 arthritis 9.8
148 cataract 9.8
149 cerebral palsy 9.8
150 coronary artery anomaly 9.8
151 diabetes mellitus 9.8
152 hereditary ataxia 9.8
153 liver disease 9.8
154 pancreas adenocarcinoma 9.8
155 spinal muscular atrophy 9.8
156 paralytic poliomyelitis 9.8
157 seckel syndrome 9.8
158 cervical dystonia 9.8
159 oromandibular dystonia 9.8
160 hemorrhagic cystitis 9.8
161 autosomal recessive cerebellar ataxia 9.8
162 immunoglobulin alpha deficiency 9.8
163 pharynx cancer 9.8
164 mucositis 9.8
165 leukodystrophy 9.8
166 microcephaly 9.8
167 t cell deficiency 9.8
168 allergic hypersensitivity disease 9.8
169 bronchopneumonia 9.8
170 telangiectasis 9.8
171 biliary atresia 9.8
172 prostatitis 9.8
173 hepatitis c 9.8
174 endodermal sinus tumor 9.8
175 hypogonadism 9.8
176 leiomyosarcoma 9.8
177 myoepithelioma 9.8
178 cockayne syndrome 9.8
179 glioblastoma multiforme 9.8
180 interstitial lung disease 9.8
181 papillary carcinoma 9.8
182 rhabdomyosarcoma 9.8
183 purpura 9.8
184 laryngitis 9.8
185 necrobiosis lipoidica 9.8
186 ovarian gonadoblastoma 9.8
187 retinitis 9.8
188 craniopharyngioma 9.8
189 hair disease 9.8
190 familial retinoblastoma 9.8
191 brain edema 9.8
192 poliomyelitis 9.8
193 pancreatitis 9.8
194 hereditary wilms' tumor 9.8
195 pneumonia 9.8
196 eosinophilic pneumonia 9.8
197 ovary papillary carcinoma 9.8
198 pulmonary valve stenosis 9.8
199 cowden disease 9.8
200 hepatoblastoma 9.8
201 malignant pleural mesothelioma 9.8
202 muscular atrophy 9.8
203 childhood leukemia 9.8
204 rosacea 9.8
205 chronic eosinophilic pneumonia 9.8
206 acardia 9.8
207 glioblastoma 9.8
208 granulocytopenia 9.8
209 growth hormone deficiency 9.8
210 nodular regenerative hyperplasia 9.8
211 nonalcoholic steatohepatitis 9.8
212 oral cancer 9.8
213 thrombasthenia 9.8
214 autonomic dysfunction 9.8
215 hypoxia 9.8
216 megalencephaly 9.8
217 myoclonus 9.8
218 atypical follicular adenoma 9.8 CDKN1A TP53
219 lig4 syndrome 9.7 ATM ATR DCLRE1C NBN PRKDC
220 alpha-thalassemia/mental retardation syndrome, x-linked 9.6 MRE11 NBN PRKDC RAD50 RPA1 TP53
221 hereditary breast ovarian cancer syndrome 9.6 BRCA1 CHEK2 MRE11 NBN RAD50 TP53

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:

53
Neurologic Central Nervous System:
seizures
myoclonus
tremor
cerebellar ataxia
dystonia
more
Growth Height:
short stature

Genitourinary Internal Genitalia Male:
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
Endocrine Features:
diabetes mellitus
delayed puberty
glucose intolerance

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:

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

UMLS symptoms related to Ataxia-Telangiectasia:


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

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

25 (showing 55, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.7 ATM PRKDC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.7 DCLRE1C
3 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.7 ATM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.7 CHEK1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.7 ATM CHEK2
6 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.7 ATR
7 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.7 CHEK2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.7 CHEK1 DCLRE1C
9 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.7 CHEK1 ATM DCLRE1C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.7 CHEK2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.7 CHEK1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.7 CHEK1 DCLRE1C
13 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.7 ATM
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.7 ATM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-158 10.7 CHEK1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.7 ATM
17 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.7 ATM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.7 ATR
19 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.7 ATR
20 Increased shRNA abundance (Z-score > 2) GR00366-A-2 10.7 ATR
21 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.7 CHEK2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.7 ATM PRKDC
23 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.7 ATM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-41 10.7 ATM PRKDC
25 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.7 CHEK1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.7 PRKDC
27 Increased shRNA abundance (Z-score > 2) GR00366-A-57 10.7 CHEK1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.7 CHEK1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.7 ATR
30 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.7 CHEK1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.7 PRKDC
32 Increased shRNA abundance (Z-score > 2) GR00366-A-8 10.7 ATM
33 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.7 ATM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.7 CHEK1 ATM CHEK2 DCLRE1C ATR PRKDC
35 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.7 DCLRE1C
36 Decreased viability GR00106-A-0 10.68 RPA2
37 Decreased viability GR00221-A-1 10.68 CHEK1 RPA2
38 Decreased viability GR00221-A-2 10.68 BRCA1 CHEK1 RPA2 CHEK2
39 Decreased viability GR00221-A-3 10.68 BRCA1 CHEK1 RPA2 ATM CHEK2
40 Decreased viability GR00221-A-4 10.68 CHEK1 ATM CHEK2
41 Decreased viability GR00240-S-1 10.68 CHEK1
42 Decreased viability GR00301-A 10.68 ATR BRCA1 CHEK1 RPA1
43 Decreased viability GR00342-S-2 10.68 CHEK2
44 Decreased viability GR00381-A-1 10.68 CHEK1
45 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.21 PRKDC RAD50 RPA1 RPA2 TP53 TP53BP1
46 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.1 RAD50 RPA1 TP53 TP53BP1 ATM ATR
47 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.1 RAD50 RPA1 TP53 TP53BP1 ATM ATR
48 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.91 CHEK2 PRKDC ATM ATR CHEK1
49 Increased cell death HMECs cells GR00103-A-0 9.85 ATR BRCA1 CHEK1 PCNA PRKDC TP53
50 Decreased viability after gemcitabine stimulation GR00107-A-2 9.76 ATM ATR CHEK1 PRKDC
51 Decreased telomerase activity GR00156-A 9.67 ATR CHEK1 CHEK2
52 Decreased viability with cisplatin GR00101-A-4 9.61 BRCA1 RPA1 ATR
53 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.58 ATM ATR CHEK1
54 Synthetic lethal with cisplatin GR00101-A-1 9.26 ATR BRCA1 CHEK1 DCLRE1C
55 Increased viability with nutlin-3 GR00123-A 9.16 TP53 TP53BP1

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

43 (showing 16, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 APTX ATM ATR BRCA1 CDKN1A CHEK1
2 endocrine/exocrine gland MP:0005379 10.39 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
3 hematopoietic system MP:0005397 10.35 CDKN1A CHEK2 DCLRE1C H2AFX MRE11 NBN
4 immune system MP:0005387 10.34 RPA1 TP53 TP53BP1 ATM ATR BRCA1
5 growth/size/body region MP:0005378 10.31 ATM ATR BRCA1 CDKN1A H2AFX NBN
6 homeostasis/metabolism MP:0005376 10.3 APTX ATM ATR BRCA1 CDKN1A CHEK2
7 mortality/aging MP:0010768 10.27 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
8 cardiovascular system MP:0005385 10.25 ATR BRCA1 CDKN1A CHEK1 H2AFX MRE11
9 embryo MP:0005380 10.22 ATM ATR BRCA1 CDKN1A CHEK1 MRE11
10 neoplasm MP:0002006 10.17 TP53 TP53BP1 ATM ATR BRCA1 CDKN1A
11 adipose tissue MP:0005375 10.16 ATM ATR BRCA1 CDKN1A PCNA PRKDC
12 integument MP:0010771 10.01 ATM ATR BRCA1 CDKN1A CHEK1 PRKDC
13 nervous system MP:0003631 10 NPAT PRKDC RAD50 TP53 ATM ATR
14 reproductive system MP:0005389 9.8 RAD50 TP53 TP53BP1 ATM ATR BRCA1
15 pigmentation MP:0001186 9.55 ATR BRCA1 PRKDC RAD50 TP53
16 respiratory system MP:0005388 9.17 TP53 ATR BRCA1 CDKN1A NPAT PRKDC

Drugs & Therapeutics for Ataxia-Telangiectasia

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

(showing 104, 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
Metformin Approved Phase 4 657-24-9 4091 14219
4
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
5
Amantadine Approved Phase 4 768-94-5 2130
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7 Adrenergic Agents Phase 4
8 Adrenergic Agonists Phase 4
9 Adrenergic alpha-2 Receptor Agonists Phase 4
10 Adrenergic alpha-Agonists Phase 4
11 Analgesics Phase 4
12 Antihypertensive Agents Phase 4
13 Autonomic Agents Phase 4,Phase 3
14 Contraceptive Agents Phase 4
15 Estradiol 17 beta-cypionate Phase 4
16 Estradiol 3-benzoate Phase 4
17 Estradiol valerate Phase 4 979-32-8
18 Estrogens Phase 4
19 Hormone Antagonists Phase 4,Phase 3
20 Hormones Phase 4,Phase 3
21 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
22 insulin Phase 4
23 Insulin, Globin Zinc Phase 4
24 Mitogens Phase 4,Phase 2
25 Neurotransmitter Agents Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 3
27 Polyestradiol phosphate Phase 4
28 Sympatholytics Phase 4
29 Hypoglycemic Agents Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Anti-Infective Agents Phase 4,Phase 2
32 Antiparkinson Agents Phase 4
33 Antiviral Agents Phase 4,Phase 2
34 Dopamine Agents Phase 4
35 arginine Nutraceutical Phase 4
36
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
37 Heptavalent Pneumococcal Conjugate Vaccine Phase 3
38 Vaccines Phase 3
39 Antiemetics Phase 3
40 Anti-Inflammatory Agents Phase 3
41 Antineoplastic Agents, Hormonal Phase 3
42 BB 1101 Phase 3
43 Dexamethasone acetate Phase 3 1177-87-3
44 Gastrointestinal Agents Phase 3
45 glucocorticoids Phase 3
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 162808-62-0, 179463-17-3 2826718 468682
51
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
52
Gemcitabine Approved Phase 2 95058-81-4 60750
53
Olaparib Approved Phase 2 763113-22-0 23725625
54
Paclitaxel Approved, Vet_approved Phase 2,Phase 1 33069-62-4 36314
55 Antifungal Agents Phase 2
56 Echinocandins Phase 2
57 Antimetabolites Phase 2
58 Antimetabolites, Antineoplastic Phase 2
59 Immunosuppressive Agents Phase 2
60 Antimitotic Agents Phase 2,Phase 1
61 Antineoplastic Agents, Phytogenic Phase 2,Phase 1
62 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
63 Albumin-Bound Paclitaxel Phase 2,Phase 1
64 serine Nutraceutical Phase 1, Phase 2
65 threonine Nutraceutical Phase 1, Phase 2
66 tyrosine Nutraceutical Phase 1, Phase 2
67
Radium Ra 223 dichloride Approved, Investigational Phase 1 444811-40-9
68
Carboplatin Approved Phase 1 41575-94-4 10339178 38904 498142
69
Asparaginase Approved, Investigational 9015-68-3
70
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
71
Cytarabine Approved, Investigational 147-94-4 6253
72
Daunorubicin Approved 20830-81-3 30323
73
Doxorubicin Approved, Investigational 23214-92-8 31703
74
Etoposide Approved 33419-42-0 36462
75
Methotrexate Approved 1959-05-2, 59-05-2 126941
76
Prednisone Approved, Vet_approved 53-03-2 5865
77
Procarbazine Approved, Investigational 671-16-9 4915
78
Vinblastine Approved 865-21-4 241903 13342
79
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
80
Baclofen Approved Early Phase 1 1134-47-0 2284
81
Pancrelipase Approved, Investigational 53608-75-6
82
Secretin Approved, Investigational 108153-74-8
83
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
84
leucovorin Approved, Nutraceutical 58-05-9 143 6006
85
Doxil Approved June 1999 31703
86
Butyric Acid Experimental, Investigational Early Phase 1 107-92-6 264
87 Anti-Bacterial Agents
88 Antibiotics, Antitubercular
89 Antibodies
90 Immunoglobulin A
91 Immunoglobulins
92 6-Mercaptopurine
93 Alkylating Agents
94 Antirheumatic Agents
95 Dermatologic Agents
96 Etoposide phosphate
97 Folic Acid Antagonists
98 Nucleic Acid Synthesis Inhibitors
99 Topoisomerase Inhibitors
100 Vitamin B Complex
101 Liver Extracts
102 pancreatin
103 Folate Nutraceutical
104 Vitamin B9 Nutraceutical

Interventional clinical trials:

(showing 29, 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 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
7 Gemcitabine Hydrochloride Alone or With VX-970 in Treating Patients With Recurrent Ovarian, Primary Peritoneal, or Fallopian Tube Cancer Recruiting NCT02595892 Phase 2 ATR Kinase Inhibitor VX-970;Gemcitabine Hydrochloride
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 ATRi Transition Rollover Study Active, not recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
14 A Study to Assess the Safety and Tolerability of AZD1390 Given With Radiation Therapy in Patients With Brain Cancer Not yet recruiting NCT03423628 Phase 1 AZD1390
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
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
19 Susceptibility to Infections in Ataxia Telangiectasia Completed NCT02345135
20 Study for Treatment of Cancer in Children With Ataxia-telangiectasia Completed NCT00187057 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
24 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Recruiting NCT02246491
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 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632

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 28 ATM
2 Ataxia-Telangiectasia Variant 28

Anatomical Context for Ataxia-Telangiectasia

MalaCards organs/tissues related to Ataxia-Telangiectasia:

38
Eye, Skin, Brain, Lung, T Cells, Breast, B Cells

Publications for Ataxia-Telangiectasia

Articles related to Ataxia-Telangiectasia:

(showing 913, show less)
# Title Authors Year
1
Targeting ataxia telangiectasia-mutated- and Rad3-related kinase (ATR) in PTEN-deficient breast cancers for personalized therapy. ( 29396668 )
2018
2
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia. ( 29290356 )
2018
3
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations. ( 29436738 )
2018
4
Molecular and Cytogenetic Studies in a Child with Burkitt Lymphoma and Ataxia-Telangiectasia Syndrome Harboring MYC Overexpression and Partial Trisomy 8. ( 29071822 )
2018
5
Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia. ( 29172151 )
2018
6
<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
7
Ataxia Telangiectasia-Mutated and Rad3-Related Inhibition and Topoisomerase I Trapping Create a Synthetic Lethality in Cancer Cells. ( 29369707 )
2018
8
More than ataxia - Movement disorders in ataxia-telangiectasia. ( 29249681 )
2018
9
Growth hormone treatment in patients with ataxia telangiectasia. ( 28948852 )
2017
10
Ataxia-Telangiectasia Mutated (ATM) Protein Signaling Participates in Development of Pulmonary Arterial Hypertension in Rats. ( 28894083 )
2017
11
Haplodeficiency of Ataxia Telangiectasia Mutated Accelerates Heart Failure After Myocardial Infarction. ( 28724653 )
2017
12
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
13
Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel. ( 29163336 )
2017
14
Assaying Radiosensitivity of Ataxia-Telangiectasia. ( 28477107 )
2017
15
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis. ( 29170652 )
2017
16
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. ( 28477134 )
2017
17
Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization. ( 28698541 )
2017
18
Inhibition of ataxia telangiectasia related-3 (ATR) improves therapeutic index in preclinical models of non-small cell lung cancer (NSCLC) radiotherapy. ( 28697853 )
2017
19
Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy. ( 28782291 )
2017
20
Human iPSC-Derived Cerebellar Neurons from a Patient with Ataxia-Telangiectasia Reveal Disrupted Gene Regulatory Networks. ( 29081736 )
2017
21
Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families. ( 28981872 )
2017
22
A new ataxia-telangiectasia mutation in an 11-year-old female. ( 28488180 )
2017
23
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms. ( 29288088 )
2017
24
A meta-analysis of the relationship between ataxia-telangiectasia mutated gene polymorphisms and lung cancer susceptibility. ( 28756982 )
2017
25
Ataxia-telangiectasia: Immunodeficiency and survival. ( 28126470 )
2017
26
Ataxia Telangiectasia and Cancer Predisposition: Challenges in Management. ( 29200166 )
2017
27
Multidisciplinary care of children and young people with ataxia-telangiectasia. ( 28338211 )
2017
28
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. ( 28082406 )
2017
29
Ataxia-Telangiectasia Mutated Modulation of Carbon Metabolism in Cancer. ( 29238697 )
2017
30
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
31
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis. ( 28716242 )
2017
32
Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients? ( 28778179 )
2017
33
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. ( 29155101 )
2017
34
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
35
Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions. ( 28929041 )
2017
36
The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research. ( 28825373 )
2017
37
Ataxia-Telangiectasia Mutated Kinase: Role in Myocardial Remodeling. ( 29152614 )
2017
38
Ataxia telangiectasia syndrome: moonlighting ATM. ( 29034753 )
2017
39
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
40
Ataxia-telangiectasia: recommendations for multidisciplinary treatment. ( 28318010 )
2017
41
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. ( 28351596 )
2017
42
Ataxia Telangiectasia-Mutated (ATM)Polymorphisms and Risk of Lung Cancer in a Chinese Population. ( 28642860 )
2017
43
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. ( 28012542 )
2017
44
T-cell prolymphocytic leukemia in an adolescent with ataxia-telangiectasia: novel approach with a JAK3 inhibitor (tofacitinib). ( 29296924 )
2017
45
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. ( 28196983 )
2017
46
Discovery of pyrazolopyrimidine derivatives as novel inhibitors of ataxia telangiectasia and rad3 related protein (ATR). ( 28131712 )
2017
47
B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection. ( 28701397 )
2017
48
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. ( 28120234 )
2017
49
Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease. ( 28746835 )
2017
50
Neurofibromatosis type-1 in a patient with ataxia-telangiectasia. ( 29237983 )
2017
51
The clinical significance of complete class switching defect in Ataxia telangiectasia patients. ( 28162005 )
2017
52
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia. ( 28744812 )
2017
53
Refractory status dystonicus in ataxia telangiectasia. ( 28084263 )
2017
54
Role of ataxia-telangiectasia mutated in hydrogen peroxide preconditioning against oxidative stress in Neuro-2a cells. ( 28487983 )
2017
55
Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis. ( 28543935 )
2017
56
Does Ataxia Telangiectasia Mutated (ATM) protect testicular and germ cell DNA integrity by regulating the redox status? ( 27318254 )
2016
57
Analysis of Residual DSBs in Ataxia-Telangiectasia Lymphoblast Cells Initiating Apoptosis. ( 27057549 )
2016
58
The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment. ( 27538496 )
2016
59
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
60
Dexamethasone improves redox state in Ataxia Telangiectasia cells by promoting NRF2-mediated antioxidant response. ( 27636396 )
2016
61
Ataxia-telangiectasia mutated interactor regulates head and neck cancer metastasis via KRas expression. ( 28012797 )
2016
62
Corynebacterium propinquum bronchopneumonia in a child with ataxia telangiectasia. ( 28621102 )
2016
63
Ataxia telangiectasia: a review. ( 27884168 )
2016
64
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
65
MEK inhibitors block growth of lung tumours with mutations in ataxia-telangiectasia mutated. ( 27922010 )
2016
66
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia. ( 27214374 )
2016
67
Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated. ( 28260489 )
2016
68
Serum Interleukin-6 Levels and Pulmonary Function inA Ataxia-Telangiectasia. ( 26851119 )
2016
69
Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T). ( 27879207 )
2016
70
Targeting the ataxia telangiectasia mutated pathway for effective therapy against hirsutine-resistant breast cancer cells. ( 27347141 )
2016
71
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders. ( 27871447 )
2016
72
Small Molecules Targeting Ataxia Telangiectasia and Rad3-Related (ATR) Kinase: An Emerging way to Enhance Existing Cancer Therapy. ( 26882028 )
2016
73
Discovery of Novel 3-Quinoline Carboxamides as Potent, Selective, and Orally Bioavailable Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase. ( 27259031 )
2016
74
Ataxia telangiectasia-mutated kinase deficiency exacerbates left ventricular dysfunction and remodeling late after myocardial infarction. ( 27288435 )
2016
75
Ataxia-Telangiectasia (A-T): An Emerging Dimension of Premature Ageing. ( 27181190 )
2016
76
Novel ATM mutations with ataxia-telangiectasia. ( 26628246 )
2016
77
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. ( 26662178 )
2016
78
Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. ( 26891003 )
2016
79
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
80
Silencing of ataxia-telangiectasia mutated by siRNA enhances the in vitro and in vivo radiosensitivity of glioma. ( 27108486 )
2016
81
Bilateral maculopathy in a patient with ataxia telangiectasia. ( 26917084 )
2016
82
Growth and nutrition in children with ataxia telangiectasia. ( 27573920 )
2016
83
Ataxia telangiectasia mutated (ATM) interacts with p400 ATPase for an efficient DNA damage response. ( 27814680 )
2016
84
Longitudinal analysis of the neurological features of ataxia-telangiectasia. ( 26896183 )
2016
85
Ataxia telangiectasia, menkes kinky hair disease, neurocutaneous melanosis: a review of these neurocutaneous syndromes and indications for clinical practice. ( 27002302 )
2016
86
Treatment of acute leukemia in children with ataxia telangiectasia (A-T). ( 27238889 )
2016
87
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
88
Cerebral microbleeds and iron depletion of dentate nuclei in ataxia-telangiectasia. ( 27597554 )
2016
89
Ataxia telangiectasia: presentation and diagnostic delay. ( 27799156 )
2016
90
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
91
Loss of ataxia-telangiectasia-mutated protein expression correlates with poor prognosis but benefits from anthracycline-containing adjuvant chemotherapy in breast cancer. ( 27329169 )
2016
92
Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs. ( 27613453 )
2016
93
Small-molecule inhibitors of Ataxia Telangiectasia and Rad3 related kinase (ATR) sensitize lymphoma cells to UVA radiation. ( 27743911 )
2016
94
Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells. ( 27596957 )
2016
95
Ataxia telangiectasia associated with nodular regenerative hyperplasia. ( 27671921 )
2016
96
Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. ( 27159176 )
2016
97
Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone. ( 27933465 )
2016
98
Ataxia telangiectasia mutated (ATM), could it be another useful biomarker for the successful treatment with the poly (ADP-ribose) polymerase inhibitor? ( 28138571 )
2016
99
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
100
Childhood colon cancer in a patient with ataxia telangiectasia. ( 26855947 )
2016
101
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. ( 27664052 )
2016
102
A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype. ( 28007901 )
2016
103
Ataxia telangiectasia: a syndrome deserving attention and study. ( 27265211 )
2016
104
Ataxia-telangiectasia mutated activation mediates tumor necrosis factor-alpha induced MMP-13 up-regulation and metastasis in lung cancer cells. ( 27556690 )
2016
105
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
106
Magnetic resonance imaging of ataxia-telangiectasia. ( 26954959 )
2016
107
Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer. ( 27602502 )
2016
108
Ataxia telangiectasia mutated in cardiac fibroblasts regulates doxorubicin-induced cardiotoxicity. ( 26862121 )
2016
109
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
110
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report. ( 26380989 )
2015
111
Primary Diffuse Large B-cell Lymphoma Arising in the Tongue Accompanied by Ataxia-telangiectasia: A Case Report. ( 26266230 )
2015
112
Decarbamoyl mitomycin C (DMC) activates p53-independent ataxia telangiectasia and rad3 related protein (ATR) chromatin eviction. ( 25565400 )
2015
113
Mutation of ataxia-telangiectasia mutated is associated with dysfunctional glutathione homeostasis in cerebellar astroglia. ( 26469940 )
2015
114
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
115
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
116
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia. ( 25882094 )
2015
117
Ataxia Telangiectasia-Mutated Gene Polymorphisms and Acute Normal Tissue Injuries in Cancer Patients After Radiation Therapy: A Systematic Review and Meta-analysis. ( 25832699 )
2015
118
Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia. ( 25884015 )
2015
119
Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective. ( 26439923 )
2015
120
Ataxia telangiectasia. ( 26200064 )
2015
121
Development of global rating instruments for pediatric patients with ataxia telangiectasia. ( 26493850 )
2015
122
Time, Dose and Ataxia Telangiectasia Mutated (ATM) Status Dependency of Coding and Noncoding RNA Expression after Ionizing Radiation Exposure. ( 25738893 )
2015
123
Myoclonus in ataxia-telangiectasia. ( 25793145 )
2015
124
Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases. ( 26815515 )
2015
125
Efficacy of Rituximab in Refractory Cold Agglutinin Hemolytic Anemia in a Patient with Ataxia-Telangiectasia. ( 26357726 )
2015
126
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
127
Ataxia-telangiectasia mutated (ATM) silencing promotes neuroblastoma progression through a MYCN independent mechanism. ( 26053094 )
2015
128
Ataxia telangiectasia. ( 26564081 )
2015
129
ATDC (Ataxia Telangiectasia Group D Complementing) Promotes Radioresistance through an Interaction with the RNF8 Ubiquitin Ligase. ( 26381412 )
2015
130
Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome. ( 26220245 )
2015
131
Treatment of EBV-associated nodular sclerosing Hodgkin lymphoma in a patient with ataxia telangiectasia with brentuximab vedotin and reduced COPP plus rituximab. ( 26109475 )
2015
132
Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study. ( 26413479 )
2015
133
Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Proteins in Epithelial Ovarian Carcinoma: Their Expression and Clinical Significance. ( 26124337 )
2015
134
MutL homolog 1 contributes to temozolomide-induced autophagy via ataxia-telangiectasia mutated in glioma. ( 25646660 )
2015
135
Cough ability measurements and recurrent respiratory symptoms in individuals with Ataxia Telangiectasia. ( 26364772 )
2015
136
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
137
Ataxia telangiectasia mutated inhibits oxidative stress-induced apoptosis by regulating heme oxygenase-1 expression. ( 25592228 )
2015
138
NADPH oxidase 4 is a critical mediator in Ataxia telangiectasia disease. ( 25646414 )
2015
139
A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease. ( 26374845 )
2015
140
Caffeine Suppresses Apoptosis of Bladder Cancer RT4 Cells in Response to Ionizing Radiation by Inhibiting Ataxia Telangiectasia Mutated-Chk2-p53 Axis. ( 26521794 )
2015
141
Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention. ( 25656498 )
2015
142
Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants. ( 25840602 )
2015
143
Ataxia-telangiectasia mutated (ATM) participates in the regulation of ionizing radiation-induced cell death via MAPK14 in lung cancer H1299 cells. ( 26269117 )
2015
144
Ataxia Telangiectasia Mutated (ATM) Dysregulation Results in Diabetic Retinopathy. ( 26502796 )
2015
145
Interleukin 6 trigged ataxia-telangiectasia mutated activation facilitates lung cancer metastasis via MMP-3/MMP-13 up-regulation. ( 26528698 )
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
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
148
Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin. ( 25881033 )
2015
149
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
150
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. ( 25572163 )
2015
151
Role of ataxia-telangiectasia mutated (ATM) in porcine oocyte in vitro maturation. ( 25598069 )
2015
152
Interactions Between Ataxia Telangiectasia Mutated Kinase Inhibition, Poly(ADP-ribose) Polymerase-1 Inhibition and BRCA1 Status in Breast Cancer Cells. ( 25337581 )
2014
153
Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer. ( 25193705 )
2014
154
Pulmonary function in children and young adults with ataxia telangiectasia. ( 23401357 )
2014
155
Improved ataxia telangiectasia mutated kinase inhibitor KU60019 provides a promising treatment strategy for non-invasive breast cancer. ( 25289090 )
2014
156
Allele and genotype frequency of a genetic variant in ataxia telangiectasia mutated gene affecting glycemic response to metformin in South Indian population. ( 25364682 )
2014
157
Pilot study of modified LMB-based therapy for children with ataxia-telangiectasia and advanced stage high grade mature B-cell malignancies. ( 23900766 )
2014
158
The development of ataxia telangiectasia mutated kinase inhibitors. ( 25138084 )
2014
159
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. ( 24631270 )
2014
160
Healing of Granulomatous Skin Changes in Ataxia-Telangiectasia After Treatment with Intravenous Immunoglobulin and Topical Mometasone 0.1% Ointment. ( 25236668 )
2014
161
Hepatitis B virus X stimulates redox signaling through activation of ataxia telangiectasia mutated kinase. ( 24966912 )
2014
162
Autoimmune hemolytic anemia in a patient with probable ataxia telangiectasia: a case report. ( 25265999 )
2014
163
Ataxia-telangiectasia-mutated protein expression with microsatellite instability in gastric cancer as prognostic marker. ( 23649938 )
2014
164
Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia. ( 24342190 )
2014
165
Targeting the Ataxia Telangiectasia Mutated protein in cancer therapy. ( 25382204 )
2014
166
Detection of acute lymphoblastic leukemia involvement in pleural fluid in an adult patient with ataxia telangiectasia by flow cytometry method. ( 25332541 )
2014
167
Immune Deficiency in Ataxia Telangiectasia - A Longitudinal Study of 44 patients. ( 24387201 )
2014
168
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ( 24733832 )
2014
169
Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma. ( 25196645 )
2014
170
Ataxia-telangiectasia: future prospects. ( 25258552 )
2014
171
Vesical telangiectasias in a patient with ataxia telangiectasia. ( 25867155 )
2014
172
Glutamine deprivation induces interleukin-8 expression in ataxia telangiectasia fibroblasts. ( 24413629 )
2014
173
Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene. ( 24422204 )
2014
174
Association between a gene variant near ataxia telangiectasia mutated and coronary artery disease in men. ( 24281401 )
2014
175
Interleukin 6 augments lung cancer chemotherapeutic resistance via ataxia-telangiectasia mutated/NF-kappaB pathway activation. ( 24988892 )
2014
176
The development of ataxia telangiectasia mutated kinase inhibitors. ( 25307308 )
2014
177
Cerebral abnormalities in adults with ataxia-telangiectasia. ( 23886747 )
2014
178
Activation of the prereplication complex is blocked by mimosine through reactive oxygen species-activated ataxia telangiectasia mutated (ATM) protein without DNA damage. ( 24421316 )
2014
179
Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia. ( 25060036 )
2014
180
[Mosaic forms of ataxia-telangiectasia]. ( 25697008 )
2014
181
Ataxia telangiectasia derived iPS cells show preserved x-ray sensitivity and decreased chromosomal instability. ( 24970375 )
2014
182
Ten new ATM alterations in Polish patients with ataxia-telangiectasia. ( 25614872 )
2014
183
The ataxia telangiectasia mutated and cyclin D3 proteins cooperate to help enforce TCRI^ and IgH allelic exclusion. ( 25127855 )
2014
184
MiR-26a enhances the radiosensitivity of glioblastoma multiforme cells through targeting of ataxia-telangiectasia mutated. ( 24211747 )
2014
185
Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients. ( 25042086 )
2014
186
Nonalcoholic steatohepatitis in a patient with ataxia-telangiectasia. ( 25374730 )
2014
187
Recently emerging signaling landscape of ataxia-telangiectasia mutated (ATM) kinase. ( 25169474 )
2014
188
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
189
Linear growth and endocrine function in children with ataxia telangiectasia. ( 25538885 )
2014
190
The PSO4 protein complex associates with replication protein A (RPA) and modulates the activation of ataxia telangiectasia-mutated and Rad3-related (ATR). ( 24443570 )
2014
191
Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia? ( 25280033 )
2014
192
A rare case of ataxia telangiectasia in a 9-year-old female child. ( 25152967 )
2014
193
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. ( 25122203 )
2014
194
Effects of ataxia telangiectasia mutated (ATM) genotypes and smoking habits on lung cancer risk in Taiwan. ( 24023351 )
2013
195
Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia. ( 23884713 )
2013
196
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
197
Concordance of ATM (ataxia telangiectasia mutated) immunohistochemistry between biopsy or metastatic tumor samples and primary tumors in gastric cancer patients. ( 23328638 )
2013
198
Identification of ATM mutations in Korean siblings with ataxia-telangiectasia. ( 23667852 )
2013
199
Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia. ( 23598976 )
2013
200
Ataxia telangiectasia mutated and Rad3 related (ATR) protein kinase inhibition is synthetically lethal in XRCC1 deficient ovarian cancer cells. ( 23451157 )
2013
201
Disorders of Upper Limb Movements in Ataxia-Telangiectasia. ( 23826191 )
2013
202
Ataxia telangiectasia mutated-dependent regulation of topoisomerase II alpha expression and sensitivity to topoisomerase II inhibitor. ( 23163762 )
2013
203
Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab. ( 23389503 )
2013
204
Ataxia telangiectasia-mutated- and Rad3-related protein regulates the DNA damage-induced G2/M checkpoint through the Aurora A cofactor Bora protein. ( 23592782 )
2013
205
Diagnostic dental radiographs not allowed! A child with ataxia telangiectasia. ( 23943361 )
2013
206
ISG15 deregulates autophagy in genotoxin-treated ataxia telangiectasia cells. ( 23212917 )
2013
207
Ataxia-telangiectasia mutated (ATM) genetic variant in Italian centenarians. ( 22960875 )
2013
208
Molecular defects in Moroccan patients with ataxia-telangiectasia. ( 23322442 )
2013
209
Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate. ( 22550086 )
2013
210
Ataxia Telangiectasia in a Three-Year-Old-Girl. ( 24368146 )
2013
211
Reducing mitochondrial ROS improves disease-related pathology in a mouse model of ataxia-telangiectasia. ( 23011031 )
2013
212
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ( 23436002 )
2013
213
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
214
Infections of the respiratory system in patients with ataxia-telangiectasia. ( 23761391 )
2013
215
Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis. ( 23121321 )
2013
216
EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia. ( 24162653 )
2013
217
The ataxia telangiectasia mutated kinase pathway regulates IL-23 expression by human dendritic cells. ( 23460736 )
2013
218
Newborn screening for SCID identifies patients with ataxia telangiectasia. ( 23264026 )
2013
219
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes. ( 23454770 )
2013
220
Deficiency of ataxia telangiectasia mutated kinase modulates cardiac remodeling following myocardial infarction: involvement in fibrosis and apoptosis. ( 24358288 )
2013
221
The ataxia telangiectasia mutated kinase controls IgI_ allelic exclusion by inhibiting secondary VI_-to-JI_ rearrangements. ( 23382544 )
2013
222
Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse. ( 23612382 )
2013
223
Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging. ( 23975689 )
2013
224
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
225
SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs. ( 23652012 )
2013
226
Ataxia telangiectasia mutated (ATM) is dispensable for endonuclease I-SceI-induced homologous recombination in mouse embryonic stem cells. ( 23355489 )
2013
227
Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. ( 23440242 )
2013
228
Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task. ( 22763152 )
2013
229
A patient-derived olfactory stem cell disease model for ataxia-telangiectasia. ( 23474819 )
2013
230
The management of hyperleukocytosis in an adult patient with acute lymphoblastic leukemia and ataxia-telangiectasia. ( 23602140 )
2013
231
Malignant pleural mesothelioma in a child with ataxia-telangiectasia. ( 22511568 )
2013
232
Ataxia-telangiectasia group D complementing gene (ATDC) upregulates matrix metalloproteinase 9 (MMP-9) to promote lung cancer cell invasion by activating ERK and JNK pathways. ( 23681803 )
2013
233
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. ( 23946315 )
2013
234
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. ( 23807571 )
2013
235
Ataxia-telangiectasia group D complementing gene (ATDC) promotes lung cancer cell proliferation by activating NF-I_B pathway. ( 23776433 )
2013
236
Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia. ( 23956159 )
2013
237
Ataxia telangiectasia-mutated (ATM) kinase activity is regulated by ATP-driven conformational changes in the Mre11/Rad50/Nbs1 (MRN) complex. ( 23525106 )
2013
238
Upregulated ataxia-telangiectasia group D complementing gene correlates with poor prognosis in patients with esophageal squamous cell carcinoma. ( 23020249 )
2013
239
MicroRNA-18a attenuates DNA damage repair through suppressing the expression of ataxia telangiectasia mutated in colorectal cancer. ( 23437304 )
2013
240
Dermatologic manifestations of ataxia-telangiectasia syndrome. ( 23360865 )
2013
241
Gastric signet ring carcinoma in a patient with ataxia-telangiectasia: a case report and review of the literature. ( 23211692 )
2013
242
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. ( 23143971 )
2013
243
DNA-dependent Protein Kinase Regulates DNA End Resection in Concert with Mre11-Rad50-Nbs1 (MRN) and Ataxia Telangiectasia-mutated (ATM). ( 24220101 )
2013
244
Non-hodgkin B-cell lymphoma of the ovary in a child with Ataxia-telangiectasia. ( 23312583 )
2013
245
The relationship between nutritional status, vitamin A and zinc levels and oxidative stress in patients with ataxia-telangiectasia. ( 23769738 )
2013
246
Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. ( 23142947 )
2013
247
Mutation at intronic repeats of the ataxia-telangiectasia mutated (ATM) gene and ATM protein loss in primary gastric cancer with microsatellite instability. ( 24324828 )
2013
248
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. ( 23566627 )
2013
249
Ataxia-telangiectasia mutated kinase-mediated upregulation of NKG2D ligands on leukemia cells by resveratrol results in enhanced natural killer cell susceptibility. ( 23445485 )
2013
250
Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant. ( 23509889 )
2013
251
Inhibition of Ataxia Telangiectasia Mutated (ATM) Kinase Suppresses Herpes Simplex Virus Type 1 (HSV-1) Keratitis. ( 24370835 )
2013
252
Ataxia telangiectasia mutated impacts insulin-like growth factor 1 signalling in skeletal muscle. ( 22941977 )
2013
253
Ataxia-telangiectasia or neurologic Wilson's disease: when strong family history becomes a diagnostic bias. ( 22826023 )
2013
254
The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration. ( 23731731 )
2013
255
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. ( 23632773 )
2013
256
Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents. ( 23936845 )
2013
257
Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia. ( 24120321 )
2013
258
Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia. ( 23952578 )
2013
259
The kinase activity of ataxia-telangiectasia mutated interferes with adenovirus E4 mutant DNA replication. ( 23740981 )
2013
260
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
261
The innate immune response transcription factor relish is necessary for neurodegeneration in a Drosophila model of ataxia-telangiectasia. ( 23502677 )
2013
262
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
263
MicroRNA-18a upregulates autophagy and ataxia telangiectasia mutated gene expression in HCT116 colon cancer cells. ( 23229340 )
2013
264
Pemetrexed induces both intrinsic and extrinsic apoptosis through ataxia telangiectasia mutated/p53-dependent and -independent signaling pathways. ( 22086658 )
2013
265
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. ( 24090759 )
2013
266
Dbf4 is direct downstream target of ataxia telangiectasia mutated (ATM) and ataxia telangiectasia and Rad3-related (ATR) protein to regulate intra-S-phase checkpoint. ( 22123827 )
2012
267
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. ( 22345219 )
2012
268
The role of the DNA damage response kinase ataxia telangiectasia mutated in neuroprotection. ( 23239948 )
2012
269
Induced pluripotent stem cells from ataxia-telangiectasia recapitulate the cellular phenotype. ( 23197857 )
2012
270
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95. ( 22649200 )
2012
271
Hepatic non-Hodgkin lymphoma and hepatoblastoma complicating ataxia-telangiectasia. ( 21457128 )
2012
272
Ataxia-telangiectasia mutated and the Mre11-Rad50-NBS1 complex: promising targets for radiosensitization. ( 22525466 )
2012
273
Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia. ( 22466704 )
2012
274
Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity. ( 23055520 )
2012
275
Neuropathology in classical and variant ataxia-telangiectasia. ( 22017321 )
2012
276
The critically ill patient with ataxia-telangiectasia: a case series. ( 21478798 )
2012
277
The cellular ataxia telangiectasia-mutated kinase promotes epstein-barr virus lytic reactivation in response to multiple different types of lytic reactivation-inducing stimuli. ( 23015717 )
2012
278
Ataxia telangiectasia mutated kinase controls chronic gammaherpesvirus infection. ( 22993144 )
2012
279
14th International Workshop on Ataxia-Telangiectasia ATW2012. ( 22921572 )
2012
280
Mitochondrial dysfunction in ataxia-telangiectasia. ( 22144182 )
2012
281
Ataxia telangiectasia: learning from previous mistakes. ( 23242084 )
2012
282
Ataxia-telangiectasia presenting with a novel immunodeficiency. ( 22520355 )
2012
283
Neurodegeneration in ataxia telangiectasia: what is new? What is evident? ( 22614068 )
2012
284
ATM and the molecular pathogenesis of ataxia telangiectasia. ( 22035194 )
2012
285
Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1. ( 22575700 )
2012
286
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. ( 21893220 )
2012
287
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. ( 22927201 )
2012
288
Hashimoto thyroiditis associated with ataxia telangiectasia. ( 22768667 )
2012
289
Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia. ( 22354567 )
2012
290
Ultrasound activates ataxia telangiectasia mutated- and rad3-related (ATR)-checkpoint kinase 1 (Chk1) pathway in human leukemia Jurkat cells. ( 22571845 )
2012
291
Characterization of glioma stem cells through multiple stem cell markers and their specific sensitization to double-strand break-inducing agents by pharmacological inhibition of ataxia telangiectasia mutated protein. ( 22257080 )
2012
292
Lack of ataxia telangiectasia mutated kinase induces structural and functional changes in the heart: role in I^-adrenergic receptor-stimulated apoptosis. ( 22179422 )
2012
293
Correlation of Ataxia-Telangiectasia-Mutated (ATM) gene loss with outcome in head and neck squamous cell carcinoma. ( 22410096 )
2012
294
Ataxia telangiectasia mutated kinase in the heart: currency for myocyte apoptosis. ( 22525664 )
2012
295
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. ( 22213089 )
2012
296
Variations of the ataxia telangiectasia mutated gene in patients with chronic lymphocytic leukemia lack substantial impact on progression-free survival and overall survival: a Cancer and Leukemia Group B study. ( 22369572 )
2012
297
Ataxia-telangiectasia. ( 21827897 )
2012
298
Heterotopic Purkinje cells in ataxia-telangiectasia. ( 21978196 )
2012
299
Inhibition of poly(ADP-ribose) polymerase (PARP) and ataxia telangiectasia mutated (ATM) on the chemosensitivity of mantle cell lymphoma to agents that induce DNA strand breaks. ( 22170260 )
2012
300
The role of the neuro-astro-vascular unit in the etiology of ataxia telangiectasia. ( 23060792 )
2012
301
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. ( 22146522 )
2012
302
Structure of Mre11-Nbs1 complex yields insights into ataxia-telangiectasia-like disease mutations and DNA damage signaling. ( 22705791 )
2012
303
Expression pattern of ataxia telangiectasia mutated (ATM), p53, Akt, and glycogen synthase kinase-3I^ in the striatum of rats treated with 3-nitropropionic acid. ( 22505033 )
2012
304
Ataxia-Telangiectasia, Mutated (ATM)/Nuclear Factor I_ light chain enhancer of activated B cells (NFI_B) signaling controls basal and DNA damage-induced transglutaminase 2 expression. ( 22493284 )
2012
305
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. ( 22006793 )
2012
306
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. ( 22071889 )
2012
307
Blockade of ataxia telangiectasia mutated sensitizes hepatoma cell lines to sorafenib by interfering with Akt signaling. ( 22265862 )
2012
308
Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia. ( 22098343 )
2012
309
Are polymorphisms of the ataxia telangiectasia mutated gene associated with breast cancer risk? ( 21327466 )
2011
310
Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells. ( 22159035 )
2011
311
Discovery of potent and selective inhibitors of ataxia telangiectasia mutated and Rad3 related (ATR) protein kinase as potential anticancer agents. ( 21413798 )
2011
312
Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in response to oxidative damage. ( 21466974 )
2011
313
Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia (A-T) Patients Using a LC/MS-Based Label-Free Protein Quantification Technology. ( 22084690 )
2011
314
Ataxia telangiectasia: A report of two cousins and review of literature. ( 22563157 )
2011
315
Ataxia telangiectasia-mutated protein and DNA-dependent protein kinase have complementary V(D)J recombination functions. ( 21245310 )
2011
316
Ataxia telangiectasia mutated (Atm) and DNA-PKcs kinases have overlapping activities during chromosomal signal joint formation. ( 21245316 )
2011
317
The DNA damage response kinases DNA-dependent protein kinase (DNA-PK) and ataxia telangiectasia mutated (ATM) Are stimulated by bulky adduct-containing DNA. ( 21487018 )
2011
318
Ataxia telangiectasia mutated kinase plays a protective role in I^-adrenergic receptor-stimulated cardiac myocyte apoptosis and myocardial remodeling. ( 21404020 )
2011
319
Metformin activates an ataxia telangiectasia mutated (ATM)/Chk2-regulated DNA damage-like response. ( 21566461 )
2011
320
Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk: evidence from the current studies. ( 20665102 )
2011
321
An ataxia-telangiectasia-mutated (ATM) kinase mediated response to DNA damage down-regulates the mRNA-binding potential of THOC5. ( 21937706 )
2011
322
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. ( 21792198 )
2011
323
Human T-lymphotropic virus type 1 p30 interacts with REGgamma and modulates ATM (ataxia telangiectasia mutated) to promote cell survival. ( 21216954 )
2011
324
miR-18a impairs DNA damage response through downregulation of ataxia telangiectasia mutated (ATM) kinase. ( 21980462 )
2011
325
Inactivation of ataxia telangiectasia mutated gene can increase intracellular reactive oxygen species levels and alter radiation-induced cell death pathways in human glioma cells. ( 21204616 )
2011
326
Ataxia telangiectasia mutated influences cytochrome c oxidase activity. ( 21266166 )
2011
327
Ataxia telangiectasia mutated- and Rad3-related kinase drives both the early and the late DNA-damage response to the monofunctional antitumour alkylator S23906. ( 21470188 )
2011
328
Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease? ( 21429505 )
2011
329
Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia. ( 21593342 )
2011
330
Lower ataxia telangiectasia mutated (ATM) mRNA expression is correlated with poor outcome of laryngeal and pharyngeal cancer patients. ( 21127011 )
2011
331
Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia. ( 21569628 )
2011
332
Perturbations in ataxia telangiectasia mutant signaling pathways after drug-induced acute liver failure and their reversal during rescue of animals by cell therapy. ( 21224054 )
2011
333
DNA-dependent protein kinase and ataxia telangiectasia mutated (ATM) promote cell survival in response to NK314, a topoisomerase III+ inhibitor. ( 21546556 )
2011
334
Phosphorylation of polynucleotide kinase/ phosphatase by DNA-dependent protein kinase and ataxia-telangiectasia mutated regulates its association with sites of DNA damage. ( 21824916 )
2011
335
Workshop report: European workshop on ataxia-telangiectasia, Frankfurt, 2011. ( 21732725 )
2011
336
Tethering DNA damage checkpoint mediator proteins topoisomerase IIbeta-binding protein 1 (TopBP1) and Claspin to DNA activates ataxia-telangiectasia mutated and RAD3-related (ATR) phosphorylation of checkpoint kinase 1 (Chk1). ( 21502314 )
2011
337
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. ( 21459046 )
2011
338
Thr-1989 phosphorylation is a marker of active ataxia telangiectasia-mutated and Rad3-related (ATR) kinase. ( 21705319 )
2011
339
H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype. ( 21199394 )
2011
340
Infliximab in the treatment of a child with cutaneous granulomas associated with ataxia telangiectasia. ( 21839336 )
2011
341
Ataxia telangiectasia: the consequences of a delayed diagnosis. ( 21354641 )
2011
342
Ataxia telangiectasia and Rad3-related overexpressing cancer cells induce prolonged Ga88 arrest and develop resistance to ionizing radiation. ( 21294646 )
2011
343
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. ( 21394101 )
2011
344