Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human mutation - 1 Feb 2002

Yuan Zi Qiang, Gottlieb Bruce, Beitel Lenore K, Wong Nora, Gordon Philip H, Wang Qing, Puisieux Alain, Foulkes William D, Trifiro Mark

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is one of the most common autosomal dominant inherited diseases. Mutations in the human mismatch repair (MMR) proteins MLH1, MSH2, MSH6, PMS1, and PMS2 have been found to co-segregate with HNPCC. The MLH1 and MSH2 proteins have been demonstrated to interact with PMS1, PMS2, and MSH6 proteins. A previous study reported that missense mutations in specific regions of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Repair Enzymes

Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

Share to Neoplasm Proteins

Share to Protein Interaction Mapping

Source

Identifiers

PMID: 11793469
DOI: 10.1002/humu.10040

Genes

PMS2
MLH1
MSH2
MSH6
PMS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Polymorphisms and HNPCC: PMS2-MLH1 protein interactions diminished by single nucleotide polymorphisms.PMID 11793469Read ↗

Functional analysis of HNPCC-related missense mutations in MSH2.Semantic proximity Read ↗

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.Semantic proximity Read ↗

Disentangling the mutational effects on protein stability and interaction of human MLH1Semantic proximity Read ↗

TheMLH1variants p.Arg265Cys and p.Lys618Ala affect protein stability while p.Leu749Gln affects heterodimer formationSemantic proximity Read ↗

Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genesSemantic proximity Read ↗

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.Semantic proximity Read ↗

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.Semantic proximity Read ↗

Novel variants of unknown significance in the PMS2 gene identified in patients with hereditary colon cancerSemantic proximity Read ↗

Disentangling the mutational effects on protein stability and interaction of human MLH1Semantic proximity Read ↗

Uncertain pathogenicity of MSH2 variants N127S and G322D challenges their classification.Semantic proximity Read ↗

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.Semantic proximity Read ↗

Identification of SNPs in hMSH3/MSH6 interaction domain affecting the structure and function of MSH2 protein.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.