Associated Papers
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
The ubiquitin ligase UBR4 and the deubiquitylase USP5 modulate the stability of DNA mismatch repair protein MLH1.
Mao C et al.
The Journal of Biological Chemistry, 2024
Phase II study of nivolumab in patients with genetic alterations in DNA damage repair and response who progressed after standard treatment for metastatic solid cancers (KM-06).
Kim JW et al.
Journal for Immunotherapy of Cancer, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Universal Screening for Lynch Syndrome Compared with Pedigree-Based Screening: 10-Year Experience in a Tertiary Hospital.
Kim MH et al.
Cancer Research and Treatment, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers.
Choi YY et al.
Scientific Reports, 2021
A novel germline mutation in hMLH1 in three Korean women with endometrial cancer in a family of Lynch syndrome: case report and literature review.
Jung YJ et al.
Hereditary Cancer in Clinical Practice, 2021
Establishment and characterization of 18 human colorectal cancer cell lines.
Kim SC et al.
Scientific Reports, 2020
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis.
Hinrichsen I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013
Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.
Zhu M et al.
Oncology Letters, 2013
Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer.
Li D et al.
Plos One, 2013
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K et al.
Familial Cancer, 2011
Racial differences in MLH1 and MSH2 mutation: an analysis of yellow race and white race based on the InSiGHT database.
Wei W et al.
Journal of Bioinformatics and Computational Biology, 2010
Analysis of hMLH1 missense mutations in East Asian patients with suspected hereditary nonpolyposis colorectal cancer.
Fan Y et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
hMRE11 deficiency leads to microsatellite instability and defective DNA mismatch repair.
Vo AT et al.
Embo Reports, 2005
The interaction of DNA mismatch repair proteins with human exonuclease I.
Schmutte C et al.
The Journal of Biological Chemistry, 2001
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
Kondo E et al.
Nucleic Acids Research, 2001
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
Guerrette S et al.
The Journal of Biological Chemistry, 1999
Human exonuclease I interacts with the mismatch repair protein hMSH2.
Schmutte C et al.
Cancer Research, 1998
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
Shimodaira H et al.
Nature Genetics, 1998