Associated Papers
Variant reclassification in cancer susceptibility genes and an updated variant spectrum of Turkish breast and colorectal cancer patients.
Can ND et al.
Human Genomics, 2026
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
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort.
Pantaleo A et al.
Cancers, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Canonical and uncanonical pathogenic germline variants in colorectal cancer patients by next-generation sequencing in a European referral center.
Poliani L et al.
Esmo Open, 2022
Exome sequencing of individuals with Huntington's disease implicates FAN1 nuclease activity in slowing CAG expansion and disease onset.
McAllister B et al.
Nature Neuroscience, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing.
Alqahtani M et al.
Familial Cancer, 2018
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
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site.
Gueneau E et al.
Nature Structural & Molecular Biology, 2013
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions.
Thompson BA et al.
Human Mutation, 2013
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.
Andersen SD et al.
Human Mutation, 2012
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K et al.
Familial Cancer, 2011
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M et al.
Human Mutation, 2011
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
Kosinski J et al.
Human Mutation, 2010
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Drost M et al.
Human Mutation, 2010
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
Betz B et al.
Journal of Cancer Research and Clinical Oncology, 2010
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Plon SE 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
The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome.
Lucci-Cordisco E et al.
Cancer Biomarkers : Section a of Disease Markers, 2006
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.
Mangold E et al.
The Journal of Pathology, 2005
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE et al.
Gastroenterology, 2005
An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1.
Hutter P et al.
Journal of Medical Genetics, 2002