×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
Biomarker
GENOMICS_ENGLAND
Loss of the DNA Damage Repair Kinase ATM Impairs Inflammasome-Dependent Anti-Bacterial Innate Immunity.
27421701 2016
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
Biomarker
GENOMICS_ENGLAND
The susceptibility gene for ataxia telangiectasia , ATM , is also an intermediate-risk breast-cancer-susceptibility gene.
19781682 2009
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
Biomarker
GENOMICS_ENGLAND
Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia.
2212727 1990
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
Biomarker
GENOMICS_ENGLAND
Germline Genetic Predisposition to Hematologic Malignancy.
28297620 2017
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
Biomarker
GENOMICS_ENGLAND
We have identified 14 families with ataxia-telangiectasia (A-T ) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10%-15% of A-T families identified in the United Kingdom).
8755918 1996
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
Biomarker
GENOMICS_ENGLAND
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia .
9521587 1998
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
Biomarker
GENOMICS_ENGLAND
In marked contrast to the ATM mutation pattern in A-T , the most frequent nucleotide changes in this leukaemia were missense mutations.
9288106 1997
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
ATM mutations in cancer families.
8797579 1996
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
New mutations in the ataxia telangiectasia gene.
8698354 1996
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
Ataxia-telangiectasia : identification and detection of founder-effect mutations in the ATM gene in ethnic populations.9443866 1998
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
A high frequency of distinct ATM gene mutations in ataxia-telangiectasia .
8808599 1996
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
The complete sequence of the ATM gene product provides useful clues to the function of this protein, and furthers understanding of the pleiotropic nature of the A-T mutations.
8589678 1995
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.
8665503 1996
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
Ataxia-telangiectasia in the Japanese population: identification of R1917X, W2491R, R2909G, IVS33+2T-->A, and 7883del5, the latter two being relatively common mutations.
9792410 1998
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
We quantified ATM protein expression in four of the families and found variable ATM protein expression (0-6.4%), further evidence for mutant ATM protein expression in both classic and variant A-T patients.
10234507 1999
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
27664052 2017
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
A double missense mutation in the ATM gene of a Dutch family with ataxia telangiectasia .
9521587 1998
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients.
10817650 2000
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
We modeled ATM sequence variants identified in UK A-T patients to determine the stability and kinase activity of the resulting proteins as well as the distribution of these mutations across the coding region.
19431188 2009
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
These data suggest that although ATM -specific mRNA is abundant in A-T cells, the abnormal ATM protein is unstable and is quickly targeted for degradation.
10873394 2000
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
We quantified ATM -protein levels in six A-T variants, and we searched their ATM genes for mutations.
9497252 1998
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
In our study, we have determined the ATM mutation spectrum in 19 classical A-T patients, including some immigrant populations, as well as 12 of Dutch ethnic origin.
9792409 1998
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
The majority of the mutations were truncating, confirming that the absence of full-length ATM protein is the most common molecular basis of AT .
9887333 1999
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
GeneticVariation
UNIPROT
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
9872980 1998