MCID: ATX030
MIFTS: 78

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 54 23 24 25 56 71 13 38
Ataxia Telangiectasia 38 12 72 50 24 51 71 52 41 42 14 69
Louis-Bar Syndrome 50 24 25 56 71
Ataxia-Telangiectasia Variant 56 29 69
a-T 24 25
at 50 71
Immunodeficiency with Ataxia Telangiectasia 50
Telangiectasia, Cerebello-Oculocutaneous 25
Cerebello-Oculocutaneous Telangiectasia 50
Ataxia Telangiectasia Syndrome 25
Ataxia-Telangiectasia Syndrome 29
Boder-Sedgwick Syndrome 12
Louis Bar Syndrome 12
V-at 56
Atm 25
At1 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
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 : 51 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 ataxia-telangiectasia-like disorder 2, and has symptoms including short stature, failure to thrive and nystagmus. An important gene associated with Ataxia-Telangiectasia is ATM (ATM Serine/Threonine Kinase), and among its related pathways/superpathways are Gene Expression and Cell Cycle, Mitotic. The drugs Clonidine and Estradiol have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

NIH Rare Diseases : 50 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

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.

MedlinePlus : 41 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.

OMIM : 54
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)

Wikipedia : 72 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 163, show less)
id Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia-like disorder 1 12.4
2 ataxia-telangiectasia-like disorder 2 12.3
3 nijmegen breakage syndrome 12.0
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.8
5 cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 11.8
6 pulmonary fungal infections in patients deemed at risk 11.8
7 poliomyelitis in patients with immunodeficiencies deemed at risk 11.8
8 arterial tortuosity syndrome 11.6
9 ocular motor apraxia 11.3
10 ataxia 11.3
11 cerebellar hypoplasia 10.9
12 x-linked sideroblastic anemia with ataxia 10.9
13 spastic paraplegia 72, autosomal recessive 10.6 MRE11 RAD50
14 pancreatic cancer 4 10.5 BRCA1 NBN
15 leiomyoma cutis 10.5 PCNA TP53
16 breast cancer 10.5
17 endocervicitis 10.5 BRCA1 TP53
18 leukemia 10.5
19 chest wall lymphoma 10.5 ATM BRCA1 TP53
20 lymphoma 10.4
21 amyloid tumor 10.4 ATM BRCA1 CHEK2
22 lung cancer 10.4
23 acute cholinergic dysautonomia 10.4 CDKN1A TP53
24 lymphoblastic leukemia 10.2
25 brenner tumor of the vagina 10.2 ATM BRCA1 CHEK2 TP53
26 3-methylglutaconic aciduria, type i 10.2 ATM ATR RPA2 TP53
27 childhood ovarian embryonal carcinoma 10.2 ATM BRCA1 CHEK2 TP53
28 hodgkin lymphoma 10.2
29 rete testis adenoma 10.2 CDKN1A TP53
30 ciliary dyskinesia, primary, 1, with or without situs inversus 10.2 APTX MRE11 NBN
31 congenital granular cell tumor 10.2 CDKN1A TP53
32 neuronitis 10.2
33 dystonia 10.1
34 bloom syndrome 10.1
35 adenocarcinoma 10.1
36 b-cell lymphomas 10.1
37 squamous cell carcinoma 10.1
38 cerebritis 10.1
39 chronic lymphocytic leukemia 10.1
40 glioma 10.1
41 hepatitis 10.1
42 thyroiditis 10.1
43 ureter urothelial papilloma 10.1 CDKN1A TP53
44 bardet-biedl syndrome 10.0 BRCA1 CDKN1A TP53
45 agammaglobulinemia 10.0
46 werner syndrome 10.0
47 lung disease 10.0
48 herpes simplex 10.0
49 myocardial infarction 10.0
50 diffuse large b-cell lymphoma 10.0
51 hemolytic anemia 10.0
52 apraxia 10.0
53 brenner tumor of ovary 10.0 ATM BRCA1 CHEK2 NBN TP53
54 janus kinase-3 deficiency 10.0 DCLRE1C H2AFX PRKDC
55 nail disorder, nonsyndromic congenital, 1 9.9 BRCA1 CDKN1A TP53
56 cerebellar ataxia 9.9
57 prolymphocytic leukemia 9.9
58 cervicitis 9.9
59 mantle cell lymphoma 9.9
60 gonadoblastoma 9.9
61 esophagitis 9.9
62 myeloid leukemia 9.9
63 cystitis 9.9
64 cerebellar degeneration 9.9
65 endotheliitis 9.9
66 melanoma 9.9
67 t-cell leukemia 9.9
68 hepatitis b 9.9
69 autoimmune hemolytic anemia 9.9
70 pharyngitis 9.9
71 combined oxidative phosphorylation deficiency 27 9.8 ATM ATR DCLRE1C NBN PRKDC
72 hiv-1 9.8
73 familial retinoblastoma 9.8
74 muscular atrophy 9.8
75 nonalcoholic steatohepatitis 9.8
76 cystic fibrosis 9.8
77 liver disease 9.8
78 leukodystrophy 9.8
79 brain edema 9.8
80 childhood leukemia 9.8
81 oral cancer 9.8
82 t cell deficiency 9.8
83 cockayne syndrome 9.8
84 poliomyelitis 9.8
85 thrombasthenia 9.8
86 spinal muscular atrophy 9.8
87 pancreatitis 9.8
88 severe combined immune deficiency 9.8
89 burkitt lymphoma 9.8
90 acne 9.8
91 paralytic poliomyelitis 9.8
92 bronchopneumonia 9.8
93 glioblastoma multiforme 9.8
94 neuroblastoma 9.8
95 acute leukemia 9.8
96 telangiectasis 9.8
97 interstitial lung disease 9.8
98 pneumonia 9.8
99 autonomic dysfunction 9.8
100 colorectal cancer 9.8
101 xeroderma pigmentosum, group a 9.8
102 acute liver failure 9.8
103 seckel syndrome 9.8
104 biliary atresia 9.8
105 papillary carcinoma 9.8
106 eosinophilic pneumonia 9.8
107 rosacea 9.8
108 hypoxia 9.8
109 keratitis 9.8
110 arthritis 9.8
111 artery disease 9.8
112 prostatitis 9.8
113 rhabdomyosarcoma 9.8
114 ovary papillary carcinoma 9.8
115 chronic eosinophilic pneumonia 9.8
116 megalencephaly 9.8
117 cervical dystonia 9.8
118 purpura 9.8
119 pulmonary valve stenosis 9.8
120 acardia 9.8
121 myoclonus 9.8
122 hepatitis c virus 9.8
123 retinoblastoma 9.8
124 cerebral palsy 9.8
125 oromandibular dystonia 9.8
126 cowden disease 9.8
127 hepatocellular carcinoma 9.8
128 insulin-like growth factor i 9.8
129 hemorrhagic cystitis 9.8
130 hepatitis c 9.8
131 laryngitis 9.8
132 bilateral breast cancer 9.8
133 glioblastoma 9.8
134 hashimoto thyroiditis 9.8
135 autosomal recessive cerebellar ataxia 9.8
136 necrobiosis lipoidica 9.8
137 hepatoblastoma 9.8
138 li-fraumeni syndrome 9.8
139 endodermal sinus tumor 9.8
140 ovarian gonadoblastoma 9.8
141 granulocytopenia 9.8
142 coronary artery disease 9.8
143 hypogonadism 9.8
144 retinitis 9.8
145 growth hormone deficiency 9.8
146 t-cell prolymphocytic leukemia 9.8
147 esophageal cancer 9.8
148 mucositis 9.8
149 leiomyosarcoma 9.8
150 craniopharyngioma 9.8
151 mutagen sensitivity 9.8
152 down syndrome 9.8
153 hereditary ataxia 9.8
154 hair disease 9.8
155 malignant pleural mesothelioma 9.8
156 nodular regenerative hyperplasia 9.8
157 cellular myxoid liposarcoma 9.7 BRCA1 CHEK2 MRE11 NBN RAD50 TP53
158 nasopharyngeal carcinoma 9.5 ATM BRCA1 CDKN1A CHEK1 CHEK2 TP53
159 benign focal amyotrophy 9.5 APTX ATM ATR TRIM29
160 leukemia, acute lymphoblastic 9.1 ATM BRCA1 CHEK2 H2AFX MRE11 NBN
161 mental retardation, autosomal recessive 45 8.9 ATM BRCA1 CHEK1 H2AFX MRE11 NBN
162 systemic lupus erythematosus with nephritis 2 8.6 ATM ATR BRCA1 CDKN1A CHEK1 CHEK2
163 short-rib thoracic dysplasia 3 with or without polydactyly 4.8 APTX ATM ATR BRCA1 CDKN1A CHEK1

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:

54

Growth- Height:
short stature

Endocrine Features:
glucose intolerance
delayed puberty
diabetes mellitus

Genitourinary- Internal Genitalia Female:
hypogonadism

Respiratory- Airways:
bronchiectasis
bronchitis

Head And Neck- Head:
sinusitis

Skin Nails & Hair- Hair:
progeric hair changes

Neurologic- Central Nervous System:
dystonia
myoclonus
tremor
choreoathetosis
seizures
more
Skin Nails & Hair- Skin:
cafe-au-lait spots
cutaneous telangiectasia
progeric skin changes
sclerodermatous skin changes

Genitourinary- Internal Genitalia Male:
hypogonadism
impaired spermatogenesis

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

Immunology:
normal numbers of b cells
thymus hypoplasia
defective b cell differentiation
lymphocytopenia
reduced numbers of t cells
more
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:

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

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
id 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 PRKDC ATM
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 CHEK2 ATM DCLRE1C ATR PRKDC
35 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.7 DCLRE1C
36 Decreased shRNA abundance (Z-score < -2) GR00366-A-1 10.54 CHEK2
37 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.54 CHEK2
38 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.54 CDKN1A CHEK1
39 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.54 RAD17 CDKN1A CHEK1 CHEK2
40 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.54 CHEK1
41 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 10.54 CHEK2
42 Decreased shRNA abundance (Z-score < -2) GR00366-A-179 10.54 CHEK1
43 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.54 CHEK1
44 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 10.54 CHEK1
45 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.54 RAD17 CHEK1 CHEK2
46 Decreased shRNA abundance (Z-score < -2) GR00366-A-38 10.54 CDKN1A
47 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.54 CHEK2
48 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.54 CHEK1 CHEK2
49 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 10.54 CHEK2
50 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.54 CDKN1A
51 Decreased viability GR00106-A-0 10.46 RPA2
52 Decreased viability GR00221-A-1 10.46 CHEK1 RPA2
53 Decreased viability GR00221-A-2 10.46 BRCA1 CHEK1 CHEK2 RPA2
54 Decreased viability GR00221-A-3 10.46 ATM BRCA1 CHEK1 CHEK2 RPA2
55 Decreased viability GR00221-A-4 10.46 CHEK1 CHEK2 ATM
56 Decreased viability GR00240-S-1 10.46 CHEK1
57 Decreased viability GR00301-A 10.46 BRCA1 CHEK1
58 Decreased viability GR00342-S-2 10.46 CHEK2
59 Decreased viability GR00381-A-1 10.46 CHEK1
60 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10.21 CHEK2 DCLRE1C H2AFX MRE11 NBN PCNA
61 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.1 NBN PCNA PRKDC RAD17 RAD50 TP53
62 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.1 NBN PCNA PRKDC RAD17 RAD50 TP53
63 Decreased human cytomegalovirus (HCMV) strain AD169 replication GR00248-A 9.91 ATM ATR CHEK1 CHEK2 PRKDC
64 Increased cell death HMECs cells GR00103-A-0 9.85 ATR BRCA1 CHEK1 PCNA PRKDC TP53
65 Decreased viability after gemcitabine stimulation GR00107-A-2 9.73 ATM ATR CHEK1 PRKDC
66 Decreased telomerase activity GR00156-A 9.65 ATR CHEK1 CHEK2
67 Decreased viability with poly (ADPa89ribose)a89polymerasea891 (PARP) inhibitor GR00114-A 9.58 ATM ATR CHEK1
68 Synthetic lethal with cisplatin GR00101-A-1 9.26 ATR BRCA1 CHEK1 DCLRE1C
69 Increased viability with nutlin-3 GR00123-A 9.16 TP53 TP53BP1

MGI Mouse Phenotypes related to Ataxia-Telangiectasia:

44 (showing 17, show less)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.42 APTX ATM H2AFX MRE11 NBN PRKDC
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 10.28 ATM ATR BRCA1 CDKN1A CHEK2 DCLRE1C
5 growth/size/body region MP:0005378 10.27 ATR BRCA1 CDKN1A H2AFX NBN PCNA
6 homeostasis/metabolism MP:0005376 10.27 APTX ATM ATR BRCA1 CDKN1A CHEK2
7 mortality/aging MP:0010768 10.27 MRE11 NBN NPAT PCNA PRKDC RAD17
8 embryo MP:0005380 10.22 ATM ATR BRCA1 CDKN1A CHEK1 MRE11
9 cardiovascular system MP:0005385 10.21 RAD17 TP53 ATM ATR BRCA1 CDKN1A
10 adipose tissue MP:0005375 10.17 ATM ATR BRCA1 CDKN1A PCNA PRKDC
11 neoplasm MP:0002006 10.13 H2AFX MRE11 NBN PRKDC RAD50 TP53
12 digestive/alimentary MP:0005381 10.01 ATR BRCA1 CDKN1A PRKDC RAD50 TP53
13 integument MP:0010771 10.01 ATR BRCA1 CDKN1A CHEK1 PRKDC RAD50
14 nervous system MP:0003631 10 ATM ATR BRCA1 CDKN1A CHEK2 MRE11
15 reproductive system MP:0005389 9.77 NBN PCNA PRKDC RAD50 TP53 TP53BP1
16 pigmentation MP:0001186 9.55 ATR BRCA1 PRKDC RAD50 TP53
17 respiratory system MP:0005388 9.1 ATR BRCA1 CDKN1A PRKDC RAD50 TP53

Drugs & Therapeutics for Ataxia-Telangiectasia

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

(showing 99, show less)
id 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
Amantadine Approved Phase 4 768-94-5 2130
4
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
5
Metformin Approved Phase 4 657-24-9 14219 4091
6
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
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
25 Neurotransmitter Agents Phase 4
26 Peripheral Nervous System Agents Phase 4,Phase 3
27 Polyestradiol phosphate Phase 4
28 Sympatholytics Phase 4
29 Analgesics, Non-Narcotic Phase 4
30 Anti-Infective Agents Phase 4,Phase 2
31 Antiparkinson Agents Phase 4
32 Antiviral Agents Phase 4,Phase 2
33 Dopamine Agents Phase 4
34 Hypoglycemic 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 179463-17-3, 162808-62-0 468682 2826718
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 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
61 Antineoplastic Agents, Phytogenic Phase 2
62 Albumin-Bound Paclitaxel Phase 2
63 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
64
Baclofen Approved Early Phase 1 1134-47-0 2284
65
Asparaginase Approved 9015-68-3
66
Cyclophosphamide Approved, Investigational 50-18-0, 6055-19-2 2907
67
Cytarabine Approved, Investigational 147-94-4 6253
68
Daunorubicin Approved 20830-81-3 30323
69
Doxorubicin Approved, Investigational 23214-92-8 31703
70
Etoposide Approved 33419-42-0 36462
71
Methotrexate Approved 1959-05-2, 59-05-2 126941
72
Prednisone Approved, Vet_approved 53-03-2 5865
73
Procarbazine Approved 671-16-9 4915
74
Vinblastine Approved 865-21-4 13342 241903
75
Vincristine Approved, Investigational 2068-78-2, 57-22-7 5978
76
Pancrelipase Approved 53608-75-6
77
Secretin Approved, Investigational 108153-74-8
78
Folic Acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
79
leucovorin Approved, Nutraceutical 58-05-9 143 6006
80
Butyric Acid Experimental Early Phase 1 107-92-6 264
81
Doxil Approved June 1999 31703
82 Anti-Bacterial Agents
83 Antibiotics, Antitubercular
84 Antibodies
85 Immunoglobulin A
86 Immunoglobulins
87 6-Mercaptopurine
88 Alkylating Agents
89 Antirheumatic Agents
90 Dermatologic Agents
91 Etoposide phosphate
92 Folic Acid Antagonists
93 Nucleic Acid Synthesis Inhibitors
94 Topoisomerase Inhibitors
95 Vitamin B Complex
96 pancreatin
97 Folate Nutraceutical
98 Vitamin B9 Nutraceutical
99 serine Nutraceutical

Interventional clinical trials:

(showing 25, show less)

id 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 Amantadine for Improving Neurologic Symptoms in Ataxia-Telangiectasia Completed NCT00950196 Phase 4 amantadine sulphate
3 Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone Recruiting NCT02733679 Phase 4 Metformin;Pioglitazone
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 Efficacy Study of Olaparib With Paclitaxel Versus Paclitaxel in Gastric Cancer Patients Active, not recruiting NCT01063517 Phase 2 olaparib;paclitaxel;Placebo
9 A Study of MK-4827 for the Treatment of Mantle Cell Lymphoma (MK-4827-002) Withdrawn NCT01244009 Phase 2 MK-4827
10 First-in-human Study of ATR Inhibitor BAY1895344 in Patients With Advanced Solid Tumors and Lymphomas Recruiting NCT03188965 Phase 1 BAY1895344
11 ATRi Transition Rollover Study Not yet recruiting NCT03309150 Phase 1 M6620;Carboplatin;Paclitaxel
12 Immunogenicity of Pneumococcal Vaccines in Ataxia-telangiectasia Patients Unknown status NCT01075438
13 Susceptibility to Infections in Ataxia Telangiectasia Unknown status NCT02345135
14 Oxidative Stress, Low Grade Inflammation, Tissue Breakdown and Biomarkers in Cerebrospinal Fluid of A-T Unknown status NCT02285348
15 Baclofen Treatment of Ataxia Telangiectasia Unknown status NCT00640003 Early Phase 1 Baclofen;Placebo
16 The Validity of Forced Expiratory Maneuvers in Ataxia Telangiectasia Studied Longitudinally Unknown status NCT00951886
17 Body Composition and Hormonal Status in Ataxia Telangiectasia Completed NCT02345200
18 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
19 International Ataxia Rating Scale in Younger Patients Completed NCT01942850
20 Cell-Based Approaches For Modeling and Treating Ataxia-Telangiectasia Recruiting NCT02246491
21 Genetic Factors of Idiopathic Polypoidal Vasculopathies in the ATM Gene (Ataxia Telangiectasia Mutated) Recruiting NCT02857894
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Development of iPS From Donated Somatic Cells of Patients With Neurological Diseases Recruiting NCT00874783
24 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
25 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:

id Genetic test Affiliating Genes
1 Ataxia-Telangiectasia Syndrome 29
2 Ataxia-Telangiectasia Variant 29
3 Ataxia-Telangiectasia 24 ATM

Anatomical Context for Ataxia-Telangiectasia

MalaCards organs/tissues related to Ataxia-Telangiectasia:

39
Skin, Eye, Brain, Lung, T Cells, Breast, B Cells

Publications for Ataxia-Telangiectasia

Articles related to Ataxia-Telangiectasia:

(showing 889, show less)
id Title Authors Year
1
Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease. ( 28746835 )
2017
2
A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia. ( 28477134 )
2017
3
Ataxia-telangiectasia: recommendations for multidisciplinary treatment. ( 28318010 )
2017
4
B Cell-Specific Expression of Ataxia-Telangiectasia Mutated Protein Kinase Promotes Chronic Gammaherpesvirus Infection. ( 28701397 )
2017
5
Brain edema with clasmatodendrosis complicating ataxia telangiectasia. ( 28351596 )
2017
6
Refractory status dystonicus in ataxia telangiectasia. ( 28084263 )
2017
7
Inhibition of ataxia telangiectasia related-3 (ATR) improves therapeutic index in preclinical models of non-small cell lung cancer (NSCLC) radiotherapy. ( 28697853 )
2017
8
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
9
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis. ( 28716242 )
2017
10
Role of ataxia-telangiectasia mutated in hydrogen peroxide preconditioning against oxidative stress in Neuro-2a cells. ( 28487983 )
2017
11
The clinical significance of complete class switching defect in Ataxia telangiectasia patients. ( 28162005 )
2017
12
The role of the ataxia telangiectasia mutated gene in lung cancer: recent advances in research. ( 28825373 )
2017
13
Ataxia Telangiectasia-Mutated (ATM)Polymorphisms and Risk of Lung Cancer in a Chinese Population. ( 28642860 )
2017
14
A new ataxia-telangiectasia mutation in an 11-year-old female. ( 28488180 )
2017
15
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
16
Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization. ( 28698541 )
2017
17
Ataxia Telangiectasia and Juvenile Idiopathic Arthritis. ( 28082406 )
2017
18
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients. ( 28120234 )
2017
19
Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis. ( 28543935 )
2017
20
Ataxia-Telangiectasia Mutated (ATM) Protein Signaling Participates in Development of Pulmonary Arterial Hypertension in Rats. ( 28894083 )
2017
21
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia. ( 28744812 )
2017
22
Is age a risk factor for liver disease and metabolic alterations in ataxia Telangiectasia patients? ( 28778179 )
2017
23
A meta-analysis of the relationship between ataxia-telangiectasia mutated gene polymorphisms and lung cancer susceptibility. ( 28756982 )
2017
24
Severe Late Toxicity After Adjuvant Breast Radiotherapy in a Patient with a Germline Ataxia Telangiectasia Mutated Gene: Future Treatment Decisions. ( 28929041 )
2017
25
Multidisciplinary care of children and young people with ataxia-telangiectasia. ( 28338211 )
2017
26
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome. ( 28012542 )
2017
27
Haplodeficiency of Ataxia Telangiectasia Mutated Accelerates Heart Failure After Myocardial Infarction. ( 28724653 )
2017
28
Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis. ( 28196983 )
2017
29
Assaying Radiosensitivity of Ataxia-Telangiectasia. ( 28477107 )
2017
30
Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy. ( 28782291 )
2017
31
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
32
Ataxia-telangiectasia: Immunodeficiency and survival. ( 28126470 )
2017
33
Discovery of pyrazolopyrimidine derivatives as novel inhibitors of ataxia telangiectasia and rad3 related protein (ATR). ( 28131712 )
2017
34
Growth hormone treatment in patients with ataxia telangiectasia. ( 28948852 )
2017
35
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
36
Bilateral maculopathy in a patient with ataxia telangiectasia. ( 26917084 )
2016
37
A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype. ( 28007901 )
2016
38
Novel ATM mutations with ataxia-telangiectasia. ( 26628246 )
2016
39
Ataxia telangiectasia: a review. ( 27884168 )
2016
40
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
41
Childhood colon cancer in a patient with ataxia telangiectasia. ( 26855947 )
2016
42
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
43
Small-molecule inhibitors of Ataxia Telangiectasia and Rad3 related kinase (ATR) sensitize lymphoma cells to UVA radiation. ( 27743911 )
2016
44
Discovery of Novel 3-Quinoline Carboxamides as Potent, Selective, and Orally Bioavailable Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase. ( 27259031 )
2016
45
Loss of ataxia-telangiectasia-mutated protein expression correlates with poor prognosis but benefits from anthracycline-containing adjuvant chemotherapy in breast cancer. ( 27329169 )
2016
46
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
47
Ataxia telangiectasia-mutated kinase deficiency exacerbates left ventricular dysfunction and remodeling late after myocardial infarction. ( 27288435 )
2016
48
Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort. ( 26891003 )
2016
49
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders. ( 27871447 )
2016
50
Ataxia telangiectasia mutated in cardiac fibroblasts regulates doxorubicin-induced cardiotoxicity. ( 26862121 )
2016
51
Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma. ( 27159176 )
2016
52
Robust reprogramming of Ataxia-Telangiectasia patient and carrier erythroid cells to induced pluripotent stem cells. ( 27596957 )
2016
53
Analysis of Residual DSBs in Ataxia-Telangiectasia Lymphoblast Cells Initiating Apoptosis. ( 27057549 )
2016
54
Cerebral microbleeds and iron depletion of dentate nuclei in ataxia-telangiectasia. ( 27597554 )
2016
55
Ataxia-telangiectasia mutated interactor regulates head and neck cancer metastasis via KRas expression. ( 28012797 )
2016
56
Mechanisms of Non-canonical Activation of Ataxia Telangiectasia Mutated. ( 28260489 )
2016
57
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline. ( 26662178 )
2016
58
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
59
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome. ( 28063379 )
2016
60
Magnetic resonance imaging of ataxia-telangiectasia. ( 26954959 )
2016
61
Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia. ( 27214374 )
2016
62
Ataxia telangiectasia: a syndrome deserving attention and study. ( 27265211 )
2016
63
Serum Interleukin-6 Levels and Pulmonary Function inA Ataxia-Telangiectasia. ( 26851119 )
2016
64
Treatment of acute leukemia in children with ataxia telangiectasia (A-T). ( 27238889 )
2016
65
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. ( 27664052 )
2016
66
Ataxia-Telangiectasia (A-T): An Emerging Dimension of Premature Ageing. ( 27181190 )
2016
67
Ataxia telangiectasia, menkes kinky hair disease, neurocutaneous melanosis: a review of these neurocutaneous syndromes and indications for clinical practice. ( 27002302 )
2016
68
Corynebacterium propinquum bronchopneumonia in a child with ataxia telangiectasia. ( 28621102 )
2016
69
MEK inhibitors block growth of lung tumours with mutations in ataxia-telangiectasia mutated. ( 27922010 )
2016
70
Ataxia telangiectasia associated with nodular regenerative hyperplasia. ( 27671921 )
2016
71
Ataxia-telangiectasia mutated activation mediates tumor necrosis factor-alpha induced MMP-13 up-regulation and metastasis in lung cancer cells. ( 27556690 )
2016
72
Longitudinal analysis of the neurological features of ataxia-telangiectasia. ( 26896183 )
2016
73
The impact of glutamine supplementation on the symptoms of ataxia-telangiectasia: a preclinical assessment. ( 27538496 )
2016
74
Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs. ( 27613453 )
2016
75
Ataxia telangiectasia: presentation and diagnostic delay. ( 27799156 )
2016
76
Small Molecules Targeting Ataxia Telangiectasia and Rad3-Related (ATR) Kinase: An Emerging way to Enhance Existing Cancer Therapy. ( 26882028 )
2016
77
Ataxia telangiectasia mutated (ATM) interacts with p400 ATPase for an efficient DNA damage response. ( 27814680 )
2016
78
Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer. ( 27602502 )
2016
79
Silencing of ataxia-telangiectasia mutated by siRNA enhances the in vitro and in vivo radiosensitivity of glioma. ( 27108486 )
2016
80
Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone. ( 27933465 )
2016
81
Targeting the ataxia telangiectasia mutated pathway for effective therapy against hirsutine-resistant breast cancer cells. ( 27347141 )
2016
82
Growth and nutrition in children with ataxia telangiectasia. ( 27573920 )
2016
83
Does Ataxia Telangiectasia Mutated (ATM) protect testicular and germ cell DNA integrity by regulating the redox status? ( 27318254 )
2016
84
Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T). ( 27879207 )
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
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
87
Ataxia telangiectasia mutated (ATM), could it be another useful biomarker for the successful treatment with the poly (ADP-ribose) polymerase inhibitor? ( 28138571 )
2016
88
Dexamethasone improves redox state in Ataxia Telangiectasia cells by promoting NRF2-mediated antioxidant response. ( 27636396 )
2016
89
Nutritional status of patients with ataxia-telangiectasia: A case for early and ongoing nutrition support and intervention. ( 25656498 )
2015
90
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
91
Caffeine Suppresses Apoptosis of Bladder Cancer RT4 Cells in Response to Ionizing Radiation by Inhibiting Ataxia Telangiectasia Mutated-Chk2-p53 Axis. ( 26521794 )
2015
92
Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants. ( 25840602 )
2015
93
Development of global rating instruments for pediatric patients with ataxia telangiectasia. ( 26493850 )
2015
94
Ataxia-telangiectasia mutated (ATM) silencing promotes neuroblastoma progression through a MYCN independent mechanism. ( 26053094 )
2015
95
Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome. ( 26220245 )
2015
96
Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective. ( 26439923 )
2015
97
Efficacy of Rituximab in Refractory Cold Agglutinin Hemolytic Anemia in a Patient with Ataxia-Telangiectasia. ( 26357726 )
2015
98
Interleukin 6 trigged ataxia-telangiectasia mutated activation facilitates lung cancer metastasis via MMP-3/MMP-13 up-regulation. ( 26528698 )
2015
99
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
100
Ataxia telangiectasia. ( 26200064 )
2015
101
Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Proteins in Epithelial Ovarian Carcinoma: Their Expression and Clinical Significance. ( 26124337 )
2015
102
A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease. ( 26374845 )
2015
103
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia. ( 25882094 )
2015
104
Decarbamoyl mitomycin C (DMC) activates p53-independent ataxia telangiectasia and rad3 related protein (ATR) chromatin eviction. ( 25565400 )
2015
105
Ataxia Telangiectasia Mutated (ATM) Dysregulation Results in Diabetic Retinopathy. ( 26502796 )
2015
106
Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report. ( 26380989 )
2015
107
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
108
Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin. ( 25881033 )
2015
109
Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study. ( 26413479 )
2015
110
MutL homolog 1 contributes to temozolomide-induced autophagy via ataxia-telangiectasia mutated in glioma. ( 25646660 )
2015
111
Primary Diffuse Large B-cell Lymphoma Arising in the Tongue Accompanied by Ataxia-telangiectasia: A Case Report. ( 26266230 )
2015
112
Cough ability measurements and recurrent respiratory symptoms in individuals with Ataxia Telangiectasia. ( 26364772 )
2015
113
Ataxia-telangiectasia mutated (ATM) participates in the regulation of ionizing radiation-induced cell death via MAPK14 in lung cancer H1299 cells. ( 26269117 )
2015
114
Ataxia telangiectasia. ( 26564081 )
2015
115
Myoclonus in ataxia-telangiectasia. ( 25793145 )
2015
116
Role of ataxia-telangiectasia mutated (ATM) in porcine oocyte in vitro maturation. ( 25598069 )
2015
117
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
118
Ataxia telangiectasia mutated inhibits oxidative stress-induced apoptosis by regulating heme oxygenase-1 expression. ( 25592228 )
2015
119
Ataxia-telangiectasia in the south of Tunisia: A study of 11 cases. ( 26815515 )
2015
120
Time, Dose and Ataxia Telangiectasia Mutated (ATM) Status Dependency of Coding and Noncoding RNA Expression after Ionizing Radiation Exposure. ( 25738893 )
2015
121
ATDC (Ataxia Telangiectasia Group D Complementing) Promotes Radioresistance through an Interaction with the RNF8 Ubiquitin Ligase. ( 26381412 )
2015
122
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
123
Treatment of EBV-associated nodular sclerosing Hodgkin lymphoma in a patient with ataxia telangiectasia with brentuximab vedotin and reduced COPP plus rituximab. ( 26109475 )
2015
124
Ataxia Telangiectasia-Mutated Gene Polymorphisms and Acute Normal Tissue Injuries in Cancer Patients After Radiation Therapy: A Systematic Review and Meta-analysis. ( 25832699 )
2015
125
Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia. ( 25884015 )
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
NADPH oxidase 4 is a critical mediator in Ataxia telangiectasia disease. ( 25646414 )
2015
128
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
129
Mutation of ataxia-telangiectasia mutated is associated with dysfunctional glutathione homeostasis in cerebellar astroglia. ( 26469940 )
2015
130
Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia. ( 25572163 )
2015
131
Cerebral abnormalities in adults with ataxia-telangiectasia. ( 23886747 )
2014
132
Nonalcoholic steatohepatitis in a patient with ataxia-telangiectasia. ( 25374730 )
2014
133
Ataxia-Telangiectasia with Novel Splicing Mutations in the ATM Gene. ( 24422204 )
2014
134
Interactions Between Ataxia Telangiectasia Mutated Kinase Inhibition, Poly(ADP-ribose) Polymerase-1 Inhibition and BRCA1 Status in Breast Cancer Cells. ( 25337581 )
2014
135
Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia. ( 24342190 )
2014
136
Ataxia-telangiectasia-mutated protein expression with microsatellite instability in gastric cancer as prognostic marker. ( 23649938 )
2014
137
MiR-26a enhances the radiosensitivity of glioblastoma multiforme cells through targeting of ataxia-telangiectasia mutated. ( 24211747 )
2014
138
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
139
Targeting the Ataxia Telangiectasia Mutated protein in cancer therapy. ( 25382204 )
2014
140
Targeted disruption of Ataxia-telangiectasia mutated gene in miniature pigs by somatic cell nuclear transfer. ( 25193705 )
2014
141
The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia. ( 25122203 )
2014
142
Pulmonary function in children and young adults with ataxia telangiectasia. ( 23401357 )
2014
143
Allele and genotype frequency of a genetic variant in ataxia telangiectasia mutated gene affecting glycemic response to metformin in South Indian population. ( 25364682 )
2014
144
Hepatitis B virus X stimulates redox signaling through activation of ataxia telangiectasia mutated kinase. ( 24966912 )
2014
145
Recently emerging signaling landscape of ataxia-telangiectasia mutated (ATM) kinase. ( 25169474 )
2014
146
Detection of acute lymphoblastic leukemia involvement in pleural fluid in an adult patient with ataxia telangiectasia by flow cytometry method. ( 25332541 )
2014
147
Vesical telangiectasias in a patient with ataxia telangiectasia. ( 25867155 )
2014
148
The ataxia telangiectasia mutated and cyclin D3 proteins cooperate to help enforce TCRI^ and IgH allelic exclusion. ( 25127855 )
2014
149
Autoimmune hemolytic anemia in a patient with probable ataxia telangiectasia: a case report. ( 25265999 )
2014
150
Glutamine deprivation induces interleukin-8 expression in ataxia telangiectasia fibroblasts. ( 24413629 )
2014
151
Do elevated serum IgM levels have to be included in probable diagnosis criteria of patients with ataxia-telangiectasia? ( 25280033 )
2014
152
The PSO4 protein complex associates with replication protein A (RPA) and modulates the activation of ataxia telangiectasia-mutated and Rad3-related (ATR). ( 24443570 )
2014
153
The development of ataxia telangiectasia mutated kinase inhibitors. ( 25307308 )
2014
154
Association between a gene variant near ataxia telangiectasia mutated and coronary artery disease in men. ( 24281401 )
2014
155
Activation of the prereplication complex is blocked by mimosine through reactive oxygen species-activated ataxia telangiectasia mutated (ATM) protein without DNA damage. ( 24421316 )
2014
156
Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients. ( 25042086 )
2014
157
Linear growth and endocrine function in children with ataxia telangiectasia. ( 25538885 )
2014
158
The development of ataxia telangiectasia mutated kinase inhibitors. ( 25138084 )
2014
159
A rare case of ataxia telangiectasia in a 9-year-old female child. ( 25152967 )
2014
160
Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia. ( 25060036 )
2014
161
Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues? ( 24733832 )
2014
162
Pilot study of modified LMB-based therapy for children with ataxia-telangiectasia and advanced stage high grade mature B-cell malignancies. ( 23900766 )
2014
163
Ten new ATM alterations in Polish patients with ataxia-telangiectasia. ( 25614872 )
2014
164
Ataxia-telangiectasia: future prospects. ( 25258552 )
2014
165
Healing of Granulomatous Skin Changes in Ataxia-Telangiectasia After Treatment with Intravenous Immunoglobulin and Topical Mometasone 0.1% Ointment. ( 25236668 )
2014
166
[Mosaic forms of ataxia-telangiectasia]. ( 25697008 )
2014
167
Immune Deficiency in Ataxia Telangiectasia - A Longitudinal Study of 44 patients. ( 24387201 )
2014
168
Improved ataxia telangiectasia mutated kinase inhibitor KU60019 provides a promising treatment strategy for non-invasive breast cancer. ( 25289090 )
2014
169
Whole-exome sequence analysis of ataxia telangiectasia-like phenotype. ( 24631270 )
2014
170
Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid carcinoma. ( 25196645 )
2014
171
Interleukin 6 augments lung cancer chemotherapeutic resistance via ataxia-telangiectasia mutated/NF-kappaB pathway activation. ( 24988892 )
2014
172
Dermatologic manifestations of ataxia-telangiectasia syndrome. ( 23360865 )
2013
173
Clinical course of two Italian siblings with ataxia-telangiectasia-like disorder. ( 23436002 )
2013
174
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
175
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes. ( 23454770 )
2013
176
Acute lymphoblastic leukemia in early childhood as the presenting sign of ataxia-telangiectasia variant. ( 23509889 )
2013
177
Ataxia-telangiectasia mutated kinase-mediated upregulation of NKG2D ligands on leukemia cells by resveratrol results in enhanced natural killer cell susceptibility. ( 23445485 )
2013
178
Movement disorder in ataxia-telangiectasia: treatment with amantadine sulfate. ( 22550086 )
2013
179
ISG15 deregulates autophagy in genotoxin-treated ataxia telangiectasia cells. ( 23212917 )
2013
180
Ataxia telangiectasia mutated impacts insulin-like growth factor 1 signalling in skeletal muscle. ( 22941977 )
2013
181
Diagnostic dental radiographs not allowed! A child with ataxia telangiectasia. ( 23943361 )
2013
182
Successful treatment of diffuse large B-cell lymphoma in a patient with ataxia telangiectasia using rituximab. ( 23389503 )
2013
183
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
184
Successful treatment of acute myeloid leukaemia in a patient with ataxia telangiectasia. ( 23952578 )
2013
185
The relationship between nutritional status, vitamin A and zinc levels and oxidative stress in patients with ataxia-telangiectasia. ( 23769738 )
2013
186
Disorders of Upper Limb Movements in Ataxia-Telangiectasia. ( 23826191 )
2013
187
Malignant pleural mesothelioma in a child with ataxia-telangiectasia. ( 22511568 )
2013
188
DNA-dependent Protein Kinase Regulates DNA End Resection in Concert with Mre11-Rad50-Nbs1 (MRN) and Ataxia Telangiectasia-mutated (ATM). ( 24220101 )
2013
189
Effects of inspiratory muscle training on lung volumes, respiratory muscle strength, and quality of life in patients with ataxia telangiectasia. ( 23956159 )
2013
190
Steroid treatment in Ataxia-Telangiectasia induces alterations of functional magnetic resonance imaging during prono-supination task. ( 22763152 )
2013
191
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
192
The ataxia telangiectasia mutated kinase controls IgI_ allelic exclusion by inhibiting secondary VI_-to-JI_ rearrangements. ( 23382544 )
2013
193
SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs. ( 23652012 )
2013
194
Very mild presentation in adult with classical cellular phenotype of ataxia telangiectasia. ( 23143971 )
2013
195
The innate immune response transcription factor relish is necessary for neurodegeneration in a Drosophila model of ataxia-telangiectasia. ( 23502677 )
2013
196
Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia. ( 23598976 )
2013
197
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
198
Ataxia-telangiectasia group D complementing gene (ATDC) promotes lung cancer cell proliferation by activating NF-I_B pathway. ( 23776433 )
2013
199
Ataxia telangiectasia mutated and Rad3 related (ATR) protein kinase inhibition is synthetically lethal in XRCC1 deficient ovarian cancer cells. ( 23451157 )
2013
200
Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival. ( 24090759 )
2013
201
Myoclonic head jerks and extensor axial dystonia in the variant form of ataxia telangiectasia. ( 24120321 )
2013
202
Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions. ( 23440242 )
2013
203
Identification of ATM mutations in Korean siblings with ataxia-telangiectasia. ( 23667852 )
2013
204
Antibody deficiency in patients with ataxia telangiectasia is caused by disturbed B- and T-cell homeostasis and reduced immune repertoire diversity. ( 23566627 )
2013
205
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
206
Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis. ( 23121321 )
2013
207
Deficiency of ataxia telangiectasia mutated kinase modulates cardiac remodeling following myocardial infarction: involvement in fibrosis and apoptosis. ( 24358288 )
2013
208
Mutation at intronic repeats of the ataxia-telangiectasia mutated (ATM) gene and ATM protein loss in primary gastric cancer with microsatellite instability. ( 24324828 )
2013
209
Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents. ( 23936845 )
2013
210
Ataxia telangiectasia mutated (ATM) is dispensable for endonuclease I-SceI-induced homologous recombination in mouse embryonic stem cells. ( 23355489 )
2013
211
Non-hodgkin B-cell lymphoma of the ovary in a child with Ataxia-telangiectasia. ( 23312583 )
2013
212
Infections of the respiratory system in patients with ataxia-telangiectasia. ( 23761391 )
2013
213
Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives. ( 23632773 )
2013
214
Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia. ( 23884713 )
2013
215
Ataxia-telangiectasia mutated (ATM) genetic variant in Italian centenarians. ( 22960875 )
2013
216
MicroRNA-18a upregulates autophagy and ataxia telangiectasia mutated gene expression in HCT116 colon cancer cells. ( 23229340 )
2013
217
Molecular defects in Moroccan patients with ataxia-telangiectasia. ( 23322442 )
2013
218
MicroRNA-18a attenuates DNA damage repair through suppressing the expression of ataxia telangiectasia mutated in colorectal cancer. ( 23437304 )
2013
219
A patient-derived olfactory stem cell disease model for ataxia-telangiectasia. ( 23474819 )
2013
220
The ataxia telangiectasia mutated kinase pathway regulates IL-23 expression by human dendritic cells. ( 23460736 )
2013
221
The appropriateness of the mouse model for ataxia-telangiectasia: neurological defects but no neurodegeneration. ( 23731731 )
2013
222
Inhibition of Ataxia Telangiectasia Mutated (ATM) Kinase Suppresses Herpes Simplex Virus Type 1 (HSV-1) Keratitis. ( 24370835 )
2013
223
Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse. ( 23612382 )
2013
224
Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. ( 23946315 )
2013
225
Upregulated ataxia-telangiectasia group D complementing gene correlates with poor prognosis in patients with esophageal squamous cell carcinoma. ( 23020249 )
2013
226
Effects of ataxia telangiectasia mutated (ATM) genotypes and smoking habits on lung cancer risk in Taiwan. ( 24023351 )
2013
227
Ataxia telangiectasia mutated-dependent regulation of topoisomerase II alpha expression and sensitivity to topoisomerase II inhibitor. ( 23163762 )
2013
228
Ataxia telangiectasia-mutated (ATM) kinase activity is regulated by ATP-driven conformational changes in the Mre11/Rad50/Nbs1 (MRN) complex. ( 23525106 )
2013
229
Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia. ( 23142947 )
2013
230
Ataxia-telangiectasia or neurologic Wilson's disease: when strong family history becomes a diagnostic bias. ( 22826023 )
2013
231
Ataxia Telangiectasia in a Three-Year-Old-Girl. ( 24368146 )
2013
232
Non invasive assessment of lung disease in ataxia telangiectasia by high-field magnetic resonance imaging. ( 23975689 )
2013
233
Newborn screening for SCID identifies patients with ataxia telangiectasia. ( 23264026 )
2013
234
EZH2-mediated H3K27 trimethylation mediates neurodegeneration in ataxia-telangiectasia. ( 24162653 )
2013
235
Gastric signet ring carcinoma in a patient with ataxia-telangiectasia: a case report and review of the literature. ( 23211692 )
2013
236
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
237
The management of hyperleukocytosis in an adult patient with acute lymphoblastic leukemia and ataxia-telangiectasia. ( 23602140 )
2013
238
Concordance of ATM (ataxia telangiectasia mutated) immunohistochemistry between biopsy or metastatic tumor samples and primary tumors in gastric cancer patients. ( 23328638 )
2013
239
Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients. ( 23807571 )
2013
240
The kinase activity of ataxia-telangiectasia mutated interferes with adenovirus E4 mutant DNA replication. ( 23740981 )
2013
241
Ataxia telangiectasia-mutated- and Rad3-related protein regulates the DNA damage-induced G2/M checkpoint through the Aurora A cofactor Bora protein. ( 23592782 )
2013
242
Pemetrexed induces both intrinsic and extrinsic apoptosis through ataxia telangiectasia mutated/p53-dependent and -independent signaling pathways. ( 22086658 )
2013
243
Reducing mitochondrial ROS improves disease-related pathology in a mouse model of ataxia-telangiectasia. ( 23011031 )
2013
244
The role of the neuro-astro-vascular unit in the etiology of ataxia telangiectasia. ( 23060792 )
2012
245
Structure of Mre11-Nbs1 complex yields insights into ataxia-telangiectasia-like disease mutations and DNA damage signaling. ( 22705791 )
2012
246
Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia. ( 22098343 )
2012
247
Ataxia telangiectasia: learning from previous mistakes. ( 23242084 )
2012
248
Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95. ( 22649200 )
2012
249
Lack of ataxia telangiectasia mutated kinase induces structural and functional changes in the heart: role in I^-adrenergic receptor-stimulated apoptosis. ( 22179422 )
2012
250
Ataxia telangiectasia mutated kinase controls chronic gammaherpesvirus infection. ( 22993144 )
2012
251
Ultrasound activates ataxia telangiectasia mutated- and rad3-related (ATR)-checkpoint kinase 1 (Chk1) pathway in human leukemia Jurkat cells. ( 22571845 )
2012
252
The critically ill patient with ataxia-telangiectasia: a case series. ( 21478798 )
2012
253
The role of the DNA damage response kinase ataxia telangiectasia mutated in neuroprotection. ( 23239948 )
2012
254
Ataxia-telangiectasia mutated and the Mre11-Rad50-NBS1 complex: promising targets for radiosensitization. ( 22525466 )
2012
255
Correlation of Ataxia-Telangiectasia-Mutated (ATM) gene loss with outcome in head and neck squamous cell carcinoma. ( 22410096 )
2012
256
Hepatic non-Hodgkin lymphoma and hepatoblastoma complicating ataxia-telangiectasia. ( 21457128 )
2012
257
Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia telangiectasia. ( 22466704 )
2012
258
Hashimoto thyroiditis associated with ataxia telangiectasia. ( 22768667 )
2012
259
Heterotopic Purkinje cells in ataxia-telangiectasia. ( 21978196 )
2012
260
Ataxia-telangiectasia. ( 21827897 )
2012
261
Ataxia telangiectasia mutated kinase in the heart: currency for myocyte apoptosis. ( 22525664 )
2012
262
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
263
Blockade of ataxia telangiectasia mutated sensitizes hepatoma cell lines to sorafenib by interfering with Akt signaling. ( 22265862 )
2012
264
Ataxia-telangiectasia presenting with a novel immunodeficiency. ( 22520355 )
2012
265
Induced pluripotent stem cells from ataxia-telangiectasia recapitulate the cellular phenotype. ( 23197857 )
2012
266
A girl with an atypical form of ataxia telangiectasia and an additional de novo 3.14 Mb microduplication in region 19q12. ( 21893220 )
2012
267
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype study. ( 22213089 )
2012
268
Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity. ( 23055520 )
2012
269
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
270
Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations. ( 22071889 )
2012
271
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
272
14th International Workshop on Ataxia-Telangiectasia ATW2012. ( 22921572 )
2012
273
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. ( 22146522 )
2012
274
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
275
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia. ( 22927201 )
2012
276
ATM and the molecular pathogenesis of ataxia telangiectasia. ( 22035194 )
2012
277
Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia. ( 22354567 )
2012
278
Neuropathology in classical and variant ataxia-telangiectasia. ( 22017321 )
2012
279
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia. ( 22006793 )
2012
280
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
281
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
282
Neurodegeneration in ataxia telangiectasia: what is new? What is evident? ( 22614068 )
2012
283
Mitochondrial dysfunction in ataxia-telangiectasia. ( 22144182 )
2012
284
Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites. ( 22345219 )
2012
285
Disease severity in a mouse model of ataxia telangiectasia is modulated by the DNA damage checkpoint gene Hus1. ( 22575700 )
2012
286
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
287
Chromatin modifying protein 1A (Chmp1A) of the endosomal sorting complex required for transport (ESCRT)-III family activates ataxia telangiectasia mutated (ATM) for PanC-1 cell growth inhibition. ( 21705858 )
2011
288
ATR (ataxia telangiectasia mutated- and Rad3-related kinase) is activated by mild hypothermia in mammalian cells and subsequently activates p53. ( 21284603 )
2011
289
Nanotube-based colorimetric probe for ultrasensitive detection of ataxia telangiectasia mutated protein. ( 22029608 )
2011
290
Patient with ataxia telangiectasia who developed acute myeloid leukemia. ( 21657959 )
2011
291
Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells. ( 22159035 )
2011
292
An ataxia-telangiectasia-mutated (ATM) kinase mediated response to DNA damage down-regulates the mRNA-binding potential of THOC5. ( 21937706 )
2011
293
Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia. ( 21569628 )
2011
294
Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia. ( 21459046 )
2011
295
Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours. ( 21792198 )
2011
296
Investigation of tRNA and ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients. ( 22295039 )
2011
297
Workshop report: European workshop on ataxia-telangiectasia, Frankfurt, 2011. ( 21732725 )
2011
298
Ataxia-telangiectasia mutated (ATM) deficiency decreases reprogramming efficiency and leads to genomic instability in iPS cells. ( 21385566 )
2011
299
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
300
Phosphorylation of polynucleotide kinase/ phosphatase by DNA-dependent protein kinase and ataxia-telangiectasia mutated regulates its association with sites of DNA damage. ( 21824916 )
2011
301
Ataxia telangiectasia-mutated protein and DNA-dependent protein kinase have complementary V(D)J recombination functions. ( 21245310 )
2011
302
Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia. ( 21593342 )
2011
303
Metformin activates an ataxia telangiectasia mutated (ATM)/Chk2-regulated DNA damage-like response. ( 21566461 )
2011
304
Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in response to oxidative damage. ( 21466974 )
2011
305
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
306
Ataxia telangiectasia: a "disease model" to understand the cerebellar control of vestibular reflexes. ( 21471399 )
2011
307
Association between Ataxia Telangiectasia Mutated gene polymorphisms and childhood leukemia in Taiwan. ( 22229509 )
2011
308
Are polymorphisms of the ataxia telangiectasia mutated gene associated with breast cancer risk? ( 21327466 )
2011
309
Purkinje cell-specific males absent on the first (mMof) gene deletion results in an ataxia-telangiectasia-like neurological phenotype and backward walking in mice. ( 21321203 )
2011
310
Inhibition of ataxia telangiectasia- and Rad3-related function abrogates the in vitro and in vivo tumorigenicity of human colon cancer cells through depletion of the CD133(+) tumor-initiating cell fraction. ( 21308861 )
2011
311
Neurologic presentation in children with ataxia-telangiectasia: is small head circumference a hallmark of the disease? ( 21429505 )
2011
312
Discovery of potent and selective inhibitors of ataxia telangiectasia mutated and Rad3 related (ATR) protein kinase as potential anticancer agents. ( 21413798 )
2011
313
Cognitive and speech-language performance in children with ataxia telangiectasia. ( 21870956 )
2011
314
Human T-lymphotropic virus type 1 p30 interacts with REGgamma and modulates ATM (ataxia telangiectasia mutated) to promote cell survival. ( 21216954 )
2011
315
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. ( 21394101 )
2011
316
Ataxia telangiectasia: A report of two cousins and review of literature. ( 22563157 )
2011
317
Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia (A-T) Patients Using a LC/MS-Based Label-Free Protein Quantification Technology. ( 22084690 )
2011
318
Thr-1989 phosphorylation is a marker of active ataxia telangiectasia-mutated and Rad3-related (ATR) kinase. ( 21705319 )
2011
319
Analysis of mutations that dissociate G(2) and essential S phase functions of human ataxia telangiectasia-mutated and Rad3-related (ATR) protein kinase. ( 21908846 )
2011
320
Ataxia telangiectasia mutated kinase plays a protective role in I^-adrenergic receptor-stimulated cardiac myocyte apoptosis and myocardial remodeling. ( 21404020 )
2011
321
Lower ataxia telangiectasia mutated (ATM) mRNA expression is correlated with poor outcome of laryngeal and pharyngeal cancer patients. ( 21127011 )
2011
322
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
323
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
324
A role for vascular deficiency in retinal pathology in a mouse model of ataxia-telangiectasia. ( 21763675 )
2011
325
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
326
Characterisation of ATM mutations in Slavic Ataxia telangiectasia patients. ( 21833744 )
2011
327
Ataxia telangiectasia mutated influences cytochrome c oxidase activity. ( 21266166 )
2011
328
Activation of interferon-stimulated genes by gamma-ray irradiation independently of the ataxia telangiectasia mutated-p53 pathway. ( 21357441 )
2011
329
DNA-dependent protein kinase and ataxia telangiectasia mutated (ATM) promote cell survival in response to NK314, a topoisomerase III+ inhibitor. ( 21546556 )
2011
330
Efficacy of very-low-dose betamethasone on neurological symptoms in ataxia-telangiectasia. ( 20840352 )
2011
331
Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype. ( 21665257 )
2011
332
Aberrant CD8+ T-cell responses and memory differentiation upon viral infection of an ataxia-telangiectasia mouse model driven by hyper-activated Akt and mTORC1 signaling. ( 21641396 )
2011
333
Infliximab in the treatment of a child with cutaneous granulomas associated with ataxia telangiectasia. ( 21839336 )
2011
334
Ataxia telangiectasia: the consequences of a delayed diagnosis. ( 21354641 )
2011
335
H2AX gene does not have a modifier effect on ataxia-telangiectasia phenotype. ( 21199394 )
2011
336
miR-18a impairs DNA damage response through downregulation of ataxia telangiectasia mutated (ATM) kinase. ( 21980462 )
2011
337
Endogenously induced DNA double strand breaks arise in heterochromatic DNA regions and require ataxia telangiectasia mutated and Artemis for their repair. ( 21596788 )
2011
338
Protection from UV-induced skin carcinogenesis by genetic inhibition of the ataxia telangiectasia and Rad3-related (ATR) kinase. ( 21844338 )
2011
339
Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways. ( 21778326 )
2011
340
Heme oxygenase-1 and carbon monoxide modulate DNA repair through ataxia-telangiectasia mutated (ATM) protein. ( 21849621 )
2011
341
Modulation of DNA repair capacity by ataxia telangiectasia mutated gene polymorphisms among polycyclic aromatic hydrocarbons-exposed workers. ( 21873372 )
2011
342
Ataxia telangiectasia mutated (Atm) and DNA-PKcs kinases have overlapping activities during chromosomal signal joint formation. ( 21245316 )
2011
343
Ataxia telangiectasia and Rad3-related overexpressing cancer cells induce prolonged Ga88 arrest and develop resistance to ionizing radiation. ( 21294646 )
2011
344
Association between polymorphisms of the ataxia telangiectasia mutated gene and breast cancer risk: evidence from the current studies. ( 20665102 )
2011
345
Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report. ( 20380744 )
2010
346
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia. ( 20480175 )
2010
347
BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with ataxia telangiectasia. ( 19898928 )
2010
348
The feasibility and validity of forced spirometry in ataxia telangiectasia. ( 20717907 )
2010
349
Pulmonary function tests in patients with ataxia-telangiectasia: obstructive or restrictive lung dysfunction? ( 20597085 )
2010
350
Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome. ( 20237955 )
2010
351
Biological and molecular mechanisms of sulfur mustard analogue-induced toxicity in JB6 and HaCaT cells: possible role of ataxia telangiectasia-mutated/ataxia telangiectasia-Rad3-related cell cycle checkpoint pathway. ( 20469912 )
2010
352
Role of ataxia telangiectasia mutated in insulin signalling of muscle-derived cell lines and mouse soleus. ( 20003097 )
2010
353
Fatal hemoptysis in a child with ataxia-telangiectasia: zeroing down on the rare cause. ( 20935403 )
2010
354
A novel defect in mitochondrial p53 accumulation following DNA damage confers apoptosis resistance in Ataxia Telangiectasia and Nijmegen Breakage Syndrome T-cells. ( 20947454 )
2010
355
Gefitinib radiosensitizes non-small cell lung cancer cells through inhibition of ataxia telangiectasia mutated. ( 20731837 )
2010
356
Reversible airway obstruction in children with ataxia telangiectasia. ( 20146367 )
2010
357
Ataxia telangiectasia: Family management. ( 20838492 )
2010
358
Extracerebellar MRI-lesions in ataxia telangiectasia go along with deficiency of the GH/IGF-1 axis, markedly reduced body weight, high ataxia scores and advanced age. ( 19898915 )
2010
359
Elevated serum IL-8 levels in ataxia telangiectasia. ( 20171651 )
2010
360
Ataxia telangiectasia mutated (ATM) inhibition transforms human mammary gland epithelial cells. ( 20177072 )
2010
361
Evaluation and management of pulmonary disease in ataxia-telangiectasia. ( 20583220 )
2010
362
Child with ataxia telangiectasia developing acute myeloid leukemia. ( 20308662 )
2010
363
Complicated but successful treatment of a patient with ataxia telangiectasia and pre-B-acute lymphoblastic leukemia. ( 21058227 )
2010
364
Association between ataxia telangiectasia mutated gene polymorphisms and breast cancer in Taiwanese females. ( 21187516 )
2010
365
MYST family lysine acetyltransferase facilitates ataxia telangiectasia mutated (ATM) kinase-mediated DNA damage response in Toxoplasma gondii. ( 20159970 )
2010
366
Ataxia telangiectasia mutated (ATM)-mediated DNA damage response in oxidative stress-induced vascular endothelial cell senescence. ( 20639198 )
2010
367
Transcription-dependent activation of ataxia telangiectasia mutated prevents DNA-dependent protein kinase-mediated cell death in response to topoisomerase I poison. ( 20304914 )
2010
368
Gallic acid induces apoptosis of lung fibroblasts via a reactive oxygen species-dependent ataxia telangiectasia mutated-p53 activation pathway. ( 20151649 )
2010
369
Chronic childhood ataxia: ataxia-telangiectasia. ( 20956936 )
2010
370
Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction to irradiation. ( 20051774 )
2010
371
Over Expression of Nucleophosmin and Nucleolin Contributes to the Suboptimal Activation of a G2/M Checkpoint in Ataxia Telangiectasia Fibroblasts. ( 21499441 )
2010
372
Autopsy study of cerebellar degeneration in siblings with ataxia-telangiectasia-like disorder. ( 20087742 )
2010
373
Ataxia-telangiectasia mutated kinase (ATM) as a central regulator of radiation-induced DNA damage response. ( 20608227 )
2010
374
Ataxia-telangiectasia in a patient presenting with hyper-immunoglobulin M syndrome. ( 20945614 )
2010
375
S phase entry causes homocysteine-induced death while ataxia telangiectasia and Rad3 related protein functions anti-apoptotically to protect neurons. ( 20639548 )
2010
376
Antioxidant vitamins intake, ataxia telangiectasia mutated (ATM) genetic polymorphisms, and breast cancer risk. ( 21058196 )
2010
377
Idiopathic thrombocytopenic purpura in a boy with ataxia telangiectasia on immunoglobulin replacement therapy. ( 20051773 )
2010
378
Activation of ataxia telangiectasia muted under experimental models and human Parkinson's disease. ( 20502937 )
2010
379
Functional significance for a heterogenous ribonucleoprotein A18 signature RNA motif in the 3'-untranslated region of ataxia telangiectasia mutated and Rad3-related (ATR) transcript. ( 20103595 )
2010
380
Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks. ( 19557000 )
2009
381
Cyclooxygenase-2 up-regulates ataxia telangiectasia and Rad3 related through extracellular signal-regulated kinase activation. ( 19584262 )
2009
382