Mechanisms of pathogenicity in human MSH2 missense mutants.
about
MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.Colon cancer associated genes exhibit signatures of positive selection at functionally significant positionsThe mechanism of mismatch repair and the functional analysis of mismatch repair defects in Lynch syndrome.Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.Mismatch repair during homologous and homeologous recombinationGenotyping of BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes in a male patient with secondary breast cancer.Pancreatic cancer and a novel MSH2 germline alteration.The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.Mismatch repair defects and Lynch syndrome: The role of the basic scientist in the battle against cancerOligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.Lynch syndrome-associated neoplasms: a discussion on histopathology and immunohistochemistry.The dual nature of mismatch repair as antimutator and mutator: for better or for worse.Multiple factors insulate Msh2-Msh6 mismatch repair activity from defects in Msh2 domain I.NPM-ALK mediates phosphorylation of MSH2 at tyrosine 238, creating a functional deficiency in MSH2 and the loss of mismatch repair.Assessing how reduced expression levels of the mismatch repair genes MLH1, MSH2, and MSH6 affect repair efficiency.Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group.Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients.Germline MLH1, MSH2 and MSH6 variants in Brazilian patients with colorectal cancer and clinical features suggestive of Lynch Syndrome.Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
P2860
Q33444643-37193130-CBB7-40F4-B2A5-E0AFCDD395F4Q33939068-E8BDF5DF-C268-4766-8ED8-B5CD10666FDDQ34164054-8EEAF734-CEBF-48B6-98C2-7C3BA4F88E2AQ34334316-FF1A29C0-817C-4582-B800-C582BD687826Q34533276-1B239B90-1461-43A4-9D43-FD08AD997636Q35053925-F7B2AB62-1D55-4F81-8E24-CA3C6CEC2436Q35164333-CE8CFEC5-0506-48B4-A31C-B9699DBE8C26Q36177837-66E881E5-7D2F-4D3A-8DB9-7A3AE802D34AQ36182997-94331FAA-2C31-4C7E-8F8A-F1DB6209C7B6Q36447028-C30BDC23-A68C-48DB-B6D2-A9085E0B7C97Q36540568-13D729E0-B468-44E1-B1F2-A0BD3DF028AEQ36821500-D1AF01EB-FB1C-4B88-9329-A0997E2859AFQ38029584-583C8A9A-7B65-479C-850F-44D1BDA1C82FQ38084166-88BD991E-92FE-490D-B29E-61ABA27820EDQ38246275-BE7C2448-7CFB-4B45-9732-13DE85D9F35BQ38271431-A1A2BBF0-6B2F-4D0D-9316-DCA69E86BA5AQ38874456-0D94ADCA-4F12-49A3-A0C6-D47377A94670Q38985355-2E8FDC81-1C4C-4A5B-A0D4-9594F2134569Q39581441-15A809B6-7C42-4055-8729-BF8204D2C414Q42287839-DE5F7800-0AB7-4BBF-BE89-EC8521A692FFQ42394236-081A84BA-F29C-4667-9FA8-F7A9F03C4ADBQ48330903-2366D7EE-7706-4F39-9E7D-851D66EED327Q52633302-2E8C58C2-458A-42FE-B719-309108ADB3D2Q54364278-17238808-F742-417D-814C-0CAC517C7DB0
P2860
Mechanisms of pathogenicity in human MSH2 missense mutants.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
Mechanisms of pathogenicity in human MSH2 missense mutants.
@en
Mechanisms of pathogenicity in human MSH2 missense mutants.
@nl
type
label
Mechanisms of pathogenicity in human MSH2 missense mutants.
@en
Mechanisms of pathogenicity in human MSH2 missense mutants.
@nl
prefLabel
Mechanisms of pathogenicity in human MSH2 missense mutants.
@en
Mechanisms of pathogenicity in human MSH2 missense mutants.
@nl
P2860
P356
P1433
P1476
Mechanisms of pathogenicity in human MSH2 missense mutants
@en
P2093
Denis Dermadi Bebek
Josef Jiricny
P2860
P304
P356
10.1002/HUMU.20893
P577
2008-11-01T00:00:00Z