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

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

Proceedings of the National Academy of Sciences of the United States of America - 16 Mar 2010

Martinez Sandra L, Kolodner Richard D

Abstract excerpt

Many of the mutations reported as potentially causing Lynch syndrome are missense mutations in human mismatch repair (MMR) genes. Here, we used a Saccharomyces cerevisiae-based system to study polymorphisms and suspected missense mutations in human MMR genes by modeling them at the appropriate S....

Read the complete abstract on PubMed

Topics

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

Share to Colorectal Neoplasms, Hereditary Nonpolyposis
Share to DNA-Binding Proteins
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Complementation Test

Share to Multifactorial Inheritance

Share to MutS Homolog 2 Protein

Share to MutS Homolog 3 Protein

Share to Saccharomyces cerevisiae

Source

Open in PubMed Open full text

Identifiers

PMID: 20176959
DOI: 10.1073/pnas.1000798107
PMCID: PMC2841877

Genes

MSH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20176959-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.PMID 20176959Read ↗

Mutation rates, spectra, and genome-wide distribution of spontaneous mutations in mismatch repair deficient yeast.Semantic proximity Read ↗

Genome-wide contributions of the MutSα- and MutSβ-dependent DNA mismatch repair pathways to the maintenance of genetic stability in Saccharomyces cerevisiae.Semantic proximity Read ↗

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.Semantic proximity Read ↗

Functional analysis of rare variants in mismatch repair proteins augments results from computation-based predictive methods.Semantic proximity Read ↗

Novel dominant mutations in Saccharomyces cerevisiae MSH6.Semantic proximity Read ↗

Dominant effects of an Msh6 missense mutation on DNA repair and cancer susceptibility.Semantic proximity Read ↗

Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.Semantic proximity Read ↗

Rad5 and Its Human Homologs, HLTF and SHPRH, Are Novel Interactors of Mismatch RepairSemantic proximity Read ↗

Functional Interrogation of Lynch Syndrome Associated <i>MSH2</i> Missense Variants Using CRISPR-Cas9 Gene Editing in Human Embryonic Stem CellsSemantic proximity Read ↗

Complex Mutation Profiles in Mismatch Repair and Ribonucleotide Reductase Mutants Reveal Novel Repair Substrate Specificity of MutS Homolog (MSH) ComplexesSemantic proximity Read ↗

Incompatibilities involving yeast mismatch repair genes: a role for genetic modifiers and implications for disease penetrance and variation in genomic mutation rates.Semantic proximity Read ↗

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant InterpretationSemantic proximity Read ↗

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