Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
about
P1343
The combined status of ATM and p53 link tumor development with therapeutic responseNew approaches to the treatment of orphan genetic disorders: Mitigating molecular pathologies using chemicalsComprehensive profiling of radiosensitive human cell lines with DNA damage response assays identifies the neutral comet assay as a potential surrogate for clonogenic survival.Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.ATM is down-regulated by N-Myc-regulated microRNA-421.Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessmentA-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicityScreening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.New mutations in the ATM gene and clinical data of 25 AT patients.Metastasis of neuroendocrine tumors are characterized by increased cell proliferation and reduced expression of the ATM geneRapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.Single nucleotide variations: biological impact and theoretical interpretation.Growing recognition of the role for rare missense substitutions in breast cancer susceptibilityFunctional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutationsRare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancerPhenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer
P2860
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P2860
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Functional and computational a ...... ns with increased cancer risk.
@ast
Functional and computational a ...... ns with increased cancer risk.
@en
type
label
Functional and computational a ...... ns with increased cancer risk.
@ast
Functional and computational a ...... ns with increased cancer risk.
@en
prefLabel
Functional and computational a ...... ns with increased cancer risk.
@ast
Functional and computational a ...... ns with increased cancer risk.
@en
P2093
P2860
P356
P1433
P1476
Functional and computational a ...... ns with increased cancer risk.
@en
P2093
A Purayidom
K Nakamura
P2860
P356
10.1002/HUMU.20805
P4510
P577
2009-01-01T00:00:00Z