×
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
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
ATM mutations with milder effects may result in phenotypes related, but not identical, to A-T .8845835 1996
×
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
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
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
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
Ataxia-telangiectasia without immunodeficiency: novel point mutations within and adjacent to the phosphatidylinositol 3-kinase-like domain.
9450874 1998
×
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
Biomarker
CTD_human
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.
15498871 2004
×
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
CTD_human
Hypersensitivity of ataxia-telangiectasia fibroblasts to a nitric oxide donor.
8958160 1997
×
Entrez Id: 472
Gene Symbol: ATM
ATM
Ataxia Telangiectasia
1.000
Biomarker
CTD_human
In contrast, in AT cells in which ATM is absent or mutated activation of P53 and its target genes is abrogated, allowing cells to replicate with damage in the presence of As, with cell death ensuing by a pathway different from P53.
11507245 2001
×
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
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
In this report, we present the results of a thorough survey of ATM mutations in 14 unrelated AT patients, with an emphasis on Japanese subjects.
9711876 1998
×
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
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
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
Mutations revealed by sequencing the 5' half of the gene for ataxia telangiectasia.
8789452 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
Strategies for mutational analysis of the large multiexon ATM gene using high-density oligonucleotide arrays.
9872980 1998
×
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
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 development of DNA-based methods for detection of unknown mutations and further characterization of ATM mutation pattern will facilitate identification of A-T carriers and assessment of their cancer risk.
9043869 1996