(Q33739955)

29 July 2017

Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions (English)

1 reference

29 July 2017

1 reference

Sandra L Martinez

1

1 reference

PubMed ID

20176959

29 July 2017

Richard D Kolodner

series ordinal

2

1 reference

PubMed ID

20176959

29 July 2017

language of work or name

English

0 references

publication date

22 February 2010

1 reference

Proceedings of the National Academy of Sciences of the United States of America

29 July 2017

1 reference

29 July 2017

107

1 reference

29 July 2017

11

1 reference

29 July 2017

5070-5075

1 reference

Apoptotic function of human PMS2 compromised by the nonsynonymous single-nucleotide polymorphic variant R20Q

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Chimeric Saccharomyces cerevisiae Msh6 protein with an Msh3 mispair-binding domain combines properties of both proteins.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Saccharomyces cerevisiae MSH2-MSH3 and MSH2-MSH6 complexes display distinct requirements for DNA binding domain I in mismatch recognition

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Mutations associated with HNPCC predisposition -- Update of ICG-HNPCC/INSiGHT mutation database

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Genetic predisposition to colorectal cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

A yeast two-hybrid assay provides a simple way to evaluate the vast majority of hMLH1 germ-line mutations.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Isolation and characterization of new proliferating cell nuclear antigen (POL30) mutator mutants that are defective in DNA mismatch repair

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

exo1-Dependent mutator mutations: model system for studying functional interactions in mismatch repair

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Novel dominant mutations in Saccharomyces cerevisiae MSH6.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Germ-line msh6 mutations in colorectal cancer families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Familial endometrial cancer in female carriers of MSH6 germline mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

The Saccharomyces cerevisiae MLH3 gene functions in MSH3-dependent suppression of frameshift mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Hypermutability of homonucleotide runs in mismatch repair and DNA polymerase proofreading yeast mutants.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Saccharomyces cerevisiae pms2 mutations are alleles of MLH1, and pms2-2 corresponds to a hereditary nonpolyposis colorectal carcinoma-causing missense mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Cancer risk in families with hereditary nonpolyposis colorectal cancer diagnosed by mutation analysis.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Redundancy of Saccharomyces cerevisiae MSH3 and MSH6 in MSH2-dependent mismatch repair

21 June 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

21 June 2018

https://api.crossref.org/works/10.1073%2FPNAS.1000798107

Hereditary nonpolyposis colorectal cancer: the syndrome, the genes, and historical perspectives.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Mutator phenotypes of common polymorphisms and missense mutations in MSH2.

21 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1000798107

HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1000798107

Low allele frequency of MLH1 D132H in American colorectal and endometrial cancer patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1000798107

The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1000798107

A biological network in Saccharomyces cerevisiae prevents the deleterious effects of endogenous oxidative DNA damage

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1000798107

Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

The role of hMLH3 in familial colorectal cancer

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Germ-line mutation of the hMSH6/GTBP gene in an atypical hereditary nonpolyposis colorectal cancer kindred.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2841877

Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer) Diagnostics

30 October 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1000798107

Various mutation screening techniques in the DNA mismatch repair genes hMSH2 and hMLH1

21 January 2018

1 reference

12 December 2020

Clinical performance of original and revised Bethesda guidelines for the identification of MSH2/MLH1 gene carriers in patients with newly diagnosed colorectal cancer: proposal of a new and simpler set of recommendations

1 reference

12 December 2020

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays

1 reference

12 December 2020

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.1000798107

1 reference

release_rjyvanlwx5fjfnq6r4jiis7zsm

29 July 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/rjyvanlwx5fjfnq6r4jiis7zsm

24 November 2022

mapped directly with Wikidata item

PMCID

2841877

1 reference

29 July 2017

1 reference

PubMed ID

20176959