Associated Papers
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
38255924 (PubMed )
Supplement: ijms-25-00850-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
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
A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.
Rath A et al.
Human Mutation, 2022
Unique MLH1 mutations in colonic adenomas in an obligate germline Lynch syndrome carrier.
Serra S et al.
Journal of Clinical Pathology, 2020
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
Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.
Abildgaard AB et al.
Elife, 2019
A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.
Shamsani J et al.
Bioinformatics (oxford, England), 2019
30475984 (PubMed )
Supplement: bty960_supplementary_data.zip › bty960-Suppl_data › Supplementary_Table_S1.xlsx › Sheet1
Using Somatic Mutations from Tumors to Classify Variants in Mismatch Repair Genes.
Shirts BH et al.
American Journal of Human Genetics, 2018
Residues in the N-terminal domain of MutL required for mismatch repair in Bacillus subtilis.
Bolz NJ et al.
Journal of Bacteriology, 2012
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.
Takahashi M et al.
Cancer Research, 2007
Causes of microsatellite instability in colorectal tumors: implications for hereditary non-polyposis colorectal cancer screening.
Potocnik U et al.
Cancer Genetics and Cytogenetics, 2001
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