Associated Papers
PRESCOTT: a population aware, epistatic, and structural model accurately predicts missense effects.
Tekpinar M et al.
Genome Biology, 2025
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
Rath A et al.
Human Mutation, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Human MLH1/3 variants causing aneuploidy, pregnancy loss, and premature reproductive aging.
Singh P et al.
Nature Communications, 2021
Three-step site-directed mutagenesis screen identifies pathogenic MLH1 variants associated with Lynch syndrome.
Houlleberghs H et al.
Journal of Medical Genetics, 2020
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Toward automation of germline variant curation in clinical cancer genetics.
Ravichandran V et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins.
Jaballah-Gabteni A et al.
Journal of Translational Medicine, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Characterization of DNA variants in the human kinome in breast cancer.
Agarwal D et al.
Scientific Reports, 2015
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
van der Velde KJ et al.
Human Mutation, 2015
[Molecular characterization of Lynch syndrome in Tunisia].
Sana A et al.
La Tunisie Medicale, 2014
Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease.
Leongamornlert D et al.
British Journal of Cancer, 2014
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
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals.
Valentin MD et al.
Familial Cancer, 2011
Lynch syndrome in Tunisia: first description of clinical features and germline mutations.
Moussa SA et al.
International Journal of Colorectal Disease, 2011
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
Mrkonjic M et al.
Plos One, 2010
Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions.
Martinez SL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2010
Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.
Doss CG et al.
Journal of Biomedical Science, 2009
The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.
Christensen LL et al.
Bmc Medical Genetics, 2008
Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer.
Barnetson RA et al.
Human Mutation, 2008
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
The effect of genetic background on the function of Saccharomyces cerevisiae mlh1 alleles that correspond to HNPCC missense mutations.
Wanat JJ et al.
Human Molecular Genetics, 2007
Single-nucleotide polymorphisms of mismatch repair genes in healthy Chinese individuals and sporadic colorectal cancer patients.
Mei Q et al.
Cancer Genetics and Cytogenetics, 2006
Gene symbol: hMSH2. Disease: hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Genetics, 2005
Impact of genetic counseling and DNA testing on individuals with colorectal cancer with a positive family history: a population-based study.
Loader S et al.
Genetic Testing, 2005
Identifying functional genetic variants in DNA repair pathway using protein conservation analysis.
Savas S et al.
Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004
[Study on significance of single nucleotide polymorphisms in the redox domain of aprimidinic/apurinic endonuclease/redox factor-1 gene in Chinese sporadic colorectal cancer].
Tang XB et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
Cancer risk in 348 French MSH2 or MLH1 gene carriers.
Parc Y et al.
Journal of Medical Genetics, 2003
Extensive molecular screening for hereditary non-polyposis colorectal cancer.
Dieumegard B et al.
British Journal of Cancer, 2000
Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.
Otway R et al.
Human Mutation, 2000
Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls.
Farrington SM et al.
American Journal of Human Genetics, 1998
RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.
Kohonen-Corish M et al.
American Journal of Human Genetics, 1996