Associated Papers
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
Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.
Tam B et al.
International Journal of Molecular Sciences, 2024
Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.
Tam B et al.
Iscience, 2023
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.
Morak M et al.
European Journal of Human Genetics : Ejhg, 2019
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
Tandy-Connor S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
The MLH1 ATPase domain is needed for suppressing aberrant formation of interstitial telomeric sequences.
Jia P et al.
Dna Repair, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
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
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
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Gene symbol: msh2. Disease: hereditary nonpolyposis colorectal cancer.
Leonardis D
Human Genetics, 2006
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
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer.
Mangold E et al.
International Journal of Cancer, 2005
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE et al.
Gastroenterology, 2005
Gene symbol: hMLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Sun MH et al.
Human Genetics, 2004
Gene symbol: hMLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Sun MH et al.
Human Genetics, 2004
Gene symbol: hMLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Sun MH et al.
Human Genetics, 2004
Gene symbol: hMLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Sun MH et al.
Human Genetics, 2004
Gene symbol: hMLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Sun MH et al.
Human Genetics, 2004
Gene symbol: hMLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Sun MH et al.
Human Genetics, 2004
Gene symbol: hMLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Sun MH et al.
Human Genetics, 2004
Gene symbol: hMLH1. Disease: Hereditary nonpolyposis colorectal cancer.
Sun MH et al.
Human Genetics, 2004
Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase.
Guarné A et al.
The Embo Journal, 2001
Hereditary nonpolyposis colorectal cancer: causative role of a germline missense mutation in the hMLH1 gene confirmed by the independent occurrence of the same somatic mutation in tumour tissue.
Wang Y et al.
Human Genetics, 1997