Associated Papers
Identification of non-synonymous SNPs affecting structure and function of MLH1 and NBN proteins: a computational approach.
Gund V et al.
Journal of Applied Genetics, 2025
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
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
Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.
Niroula A et al.
Human Mutation, 2015
26333163 (PubMed )
Supplement: supplement_1.pdf
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
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H 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
A novel pathogenic MLH1 missense mutation, c.112A > C, p.Asn38His, in six families with Lynch syndrome.
van Riel E et al.
Hereditary Cancer in Clinical Practice, 2010
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.
Ellison AR et al.
Nucleic Acids Research, 2004
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