Associated Papers
Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency.
Pasternak Y et al.
The Journal of Allergy and Clinical Immunology. Global, 2024
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Identification of SNPs in hMSH3/MSH6 interaction domain affecting the structure and function of MSH2 protein.
Singh S et al.
Biotechnology and Applied Biochemistry, 2022
Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.
Bakouny Z et al.
Nature Communications, 2021
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
A Bayesian framework for efficient and accurate variant prediction.
Qian D et al.
Plos One, 2018
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.
Houlleberghs H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2016
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
Mismatch repair protein MSH2 regulates translesion DNA synthesis following exposure of cells to UV radiation.
Lv L et al.
Nucleic Acids Research, 2013
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.
Kansikas M et al.
Human Mutation, 2011
A database to support the interpretation of human mismatch repair gene variants.
Ou J et al.
Human Mutation, 2008
Mechanisms of pathogenicity in human MSH2 missense mutants.
Ollila S et al.
Human Mutation, 2008
Functional analysis of HNPCC-related missense mutations in MSH2.
Lützen A et al.
Mutation Research, 2008
Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.
Ollila S et al.
Gastroenterology, 2006
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining.
Mangold E et al.
The Journal of Pathology, 2005
Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.
Genuardi M et al.
European Journal of Human Genetics : Ejhg, 0