Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms

scientific article

Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1002/HUMU.10040
P698PubMed publication ID11793469
P5875ResearchGate publication ID11566154

P50authorWilliam David FoulkesQ37829195
Lenore K BeitelQ42961532
Alain PuisieuxQ56422488
P2093author name stringQing Wang
Bruce Gottlieb
Philip H Gordon
Mark Trifiro
Nora Wong
Zi Qiang Yuan
P2860cites workInteractions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancerQ22003969
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2Q24596494
Structural evidence for ligand specificity in the binding domain of the human androgen receptor. Implications for pathogenic gene mutationsQ27622710
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancerQ28137782
Characterization of single-nucleotide polymorphisms in coding regions of human genesQ28138557
SNPs, protein structure, and disease.Q30328103
Reliable identification of large numbers of candidate SNPs from public EST dataQ30559720
Revertant mosaicism in human genetic disordersQ33682876
Towards a structural basis of human non-synonymous single nucleotide polymorphismsQ33899435
Back mutation can produce phenotype reversion in Bloom syndrome somatic cellsQ33940843
Germline and somatic mutation analyses in the DNA mismatch repair gene MLH3: Evidence for somatic mutation in colorectal cancersQ33943737
Deficient DNA mismatch repair: a common etiologic factor for colon cancerQ34189020
Restoration of mismatch repair to nuclear extracts of H6 colorectal tumor cells by a heterodimer of human MutL homologsQ34554581
Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer familiesQ36588462
Predicting the functional consequences of non-synonymous single nucleotide polymorphisms: structure-based assessment of amino acid variationQ40718968
Hypermutability and mismatch repair deficiency in RER+ tumor cellsQ41508298
Molecular genetics of hereditary nonpolyposis colorectal cancer.Q41750218
MLH1, PMS1, and MSH2 interactions during the initiation of DNA mismatch repair in yeastQ42427955
A DNA Polymorphism Discovery Resource for Research on Human Genetic Variation: Table 1Q56566320
Somatic mosaicism and variable expressivityQ73428632
Excision repair invades the territory of mismatch repairQ74610856
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectsingle-nucleotide polymorphismQ501128
Lynch syndromeQ783644
P304page(s)108-13
P577publication date2002-02-01
P1433published inHuman MutationQ5937269
P1476titlePolymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms
P478volume19

Reverse relations

cites work (P2860)
Q92339722Array comparative genomic hybridization based identification of key genetic alterations at 2p21-p16.3 (MSH2, MSH6, EPCAM), 3p23-p14.2 (MLH1), 7p22.1 (PMS2) and 1p34.1-p33 (MUTYH) regions in hereditary non polyposis colorectal cancer (Lynch syndrome)
Q28253493Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family
Q36862037Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes
Q36033193Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations
Q42013225Identification of genetic susceptibility to childhood cancer through analysis of genes in parallel
Q45227604Interaction of calbindin D28k and inositol monophosphatase in human postmortem cortex: possible implications for bipolar disorder
Q54608084Long-range PCR facilitates the identification of PMS2-specific mutations.
Q34617068MLH1 mutations differentially affect meiotic functions in Saccharomyces cerevisiae
Q57174030Mutation in angiotensin II type 1 receptor disrupts its binding to angiotensin II leading to hypotension: An insight into hydrogen bonding patterns
Q34994597Polymorphisms in DNA repair and environmental interactions
Q24293661Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants
Q84068978Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome
Q57737955Susceptibility to Refractory Ulcerative Colitis Is Associated with Polymorphism in the hMLH1 Mismatch Repair Gene

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