Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
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Newborn screening for SCID identifies patients with ataxia telangiectasiaRegulation of the Target of Rapamycin and Other Phosphatidylinositol 3-Kinase-Related Kinases by Membrane TargetingAtaxia telangiectasia: a reviewStructures of closed and open conformations of dimeric human ATMFunctional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.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.Computational refinement of functional single nucleotide polymorphisms associated with ATM geneEstablishment of clival chordoma cell line MUG-CC1 and lymphoblastoid cells as a model for potential new treatment strategiesAssociation of common ATM variants with familial breast cancer in a South American population.Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer.Cell-surface expression of transrearranged Vgamma-cbeta T-cell receptor chains in healthy donors and in ataxia telangiectasia patients.A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicityNew mutations in the ATM gene and clinical data of 25 AT patients.The association between ATM IVS 22-77 T>C and cancer risk: a meta-analysis.ATM-heterozygous germline mutations contribute to breast cancer-susceptibilityATM and ataxia telangiectasia.Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.Melting analysis on microbeads in rapid temperature-gradient inside microchannels for single nucleotide polymorphisms detection.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.ATM mutations in sporadic lymphoid tumours.ATM gene mutations in sporadic breast cancer patients from Brazil.Ten new ATM alterations in Polish patients with ataxia-telangiectasia.Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasiaA recurrent 11q aberration pattern characterizes a subset of MYC-negative high-grade B-cell lymphomas resembling Burkitt lymphoma.Pharmacogenomics and breast cancer.Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutationsEstablishment & characterization of lymphoblastoid cell lines from patients with multiple primary neoplasms in the upper aero-digestive tract & healthy individuals.ATM polymorphisms as risk factors for prostate cancer development.Identification of ATM mutations in Korean siblings with ataxia-telangiectasiaA Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.Detection of ATM germline variants by the p53 mitotic centrosomal localization test in BRCA1/2-negative patients with early-onset breast cancer.Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.Lymphoblastoid Cell lines: a Continuous in Vitro Source of Cells to Study Carcinogen Sensitivity and DNA RepairATM heterozygosity and breast cancer: screening of 37 breast cancer patients for ATM mutations using a non-isotopic RNase cleavage-based assay.Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancerMinor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.A novel approach to describe a U1 snRNA binding site.Global analysis of ATM polymorphism reveals significant functional constraint.
P2860
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P2860
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh
1999年學術文章
@zh-hant
name
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
@en
type
label
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
@en
prefLabel
Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
@en
P2093
P50
P356
P1476
Characterization of ATM gene mutations in 66 ataxia telangiectasia families
@en
P2093
A Rosenthal
D Schindler
H Sennefelder
K Sperling
N Sandoval
P356
10.1093/HMG/8.1.69
P577
1999-01-01T00:00:00Z