Associated Papers
Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.
Lei H et al.
Human Genomics, 2024
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Lagerstedt-Robinson K et al.
Oncology Reports, 2016
A novel c. 204 Ile68Met germline variant in exon 2 of the mutL homolog 1 gene in a colorectal cancer patient.
Vodicka P et al.
Oncology Letters, 2015
Exploring mechanisms of human disease through structurally resolved protein interactome networks.
Das J et al.
Molecular Biosystems, 2014
Classification of mismatch repair gene missense variants with PON-MMR.
Ali H et al.
Human Mutation, 2012
Three-dimensional reconstruction of protein networks provides insight into human genetic disease.
Wang X et al.
Nature Biotechnology, 2012
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Mutation analysis of the MLH1, MSH2 and MSH6 genes in patients with double primary cancers of the colorectum and the endometrium: a population-based study in northern Sweden.
Cederquist K et al.
International Journal of Cancer, 2004
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
Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.
Ellison AR et al.
Human Molecular Genetics, 2001
Microsatellite Instability and hMLH1 and hMSH2 expression analysis in familial and sporadic colorectal cancer.
Salahshor S et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2001
Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations.
Shcherbakova PV et al.
Molecular and Cellular Biology, 1999
Crystal structure and ATPase activity of MutL: implications for DNA repair and mutagenesis.
Ban C et al.
Cell, 1998
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
Shimodaira H et al.
Nature Genetics, 1998