Associated Papers
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
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
Rath A et al.
Human Mutation, 2022
The Frequency of Discordant Variant Classification in the Human Gene Mutation Database: A Comparison of the American College of Medical Genetics and Genomics Guidelines and ClinVar.
Park KJ et al.
Laboratory Medicine, 2021
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
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Derivation of Breast Cancer Cell Lines Under Physiological (5%) Oxygen Concentrations.
Leung EY et al.
Frontiers in Oncology, 2018
Detection of dysregulated protein-association networks by high-throughput proteomics predicts cancer vulnerabilities.
Lapek JD et al.
Nature Biotechnology, 2017
The molecular landscape of extraskeletal osteosarcoma: A clinicopathological and molecular biomarker study.
Jour G et al.
The Journal of Pathology. Clinical Research, 2016
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
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
A cell-free assay for the functional analysis of variants of the mismatch repair protein MLH1.
Drost M et al.
Human Mutation, 2010
Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.
Christensen LL et al.
Familial Cancer, 2009
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).
Chao EC et al.
Human Mutation, 2008
The interplay between hMLH1 and hMRE11: role in MMR and the effect of hMLH1 mutations.
Zhao N et al.
Biochemical and Biophysical Research Communications, 2008
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes.
Ou J et al.
Human Mutation, 2007
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.
Lagerstedt Robinson K et al.
Journal of the National Cancer Institute, 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
The MLH1 D132H variant is associated with susceptibility to sporadic colorectal cancer.
Lipkin SM et al.
Nature Genetics, 2004
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.
Wagner A et al.
American Journal of Human Genetics, 2003
The interacting domains of three MutL heterodimers in man: hMLH1 interacts with 36 homologous amino acid residues within hMLH3, hPMS1 and hPMS2.
Kondo E et al.
Nucleic Acids Research, 2001
The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.
Guerrette S et al.
The Journal of Biological Chemistry, 1999
Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.
Shimodaira H et al.
Nature Genetics, 1998