Associated Papers
Disentangling the mutational effects on protein stability and interaction of human MLH1.
Larsen-Ledet S et al.
Plos Genetics, 2025
40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › ClinVar_gnomAD_data
SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.
Canson DM et al.
Bioinformatics (oxford, England), 2023
37021934 (PubMed )
Supplement: btad179_supplementary_data.zip › SAI10kcalc_supp_tables_final.xlsx › S1.variants
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp006.xlsx › MLH1
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants
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
Comprehensive functional assessment of MLH1 variants of unknown significance.
Borràs E et al.
Human Mutation, 2012
Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.
Fan Y et al.
Biochemical Genetics, 2012
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.
Kosinski J et al.
Human Mutation, 2010
Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.
Mueller J et al.
Cancer Research, 2009
The PMS2 subunit of human MutLalpha contains a metal ion binding domain of the iron-dependent repressor protein family.
Kosinski J et al.
Journal of Molecular Biology, 2008
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families.
Wahlberg SS et al.
Cancer Research, 2002
Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.
Syngal S et al.
Jama, 1999
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