Associated Papers
Elucidation of multiple high-resolution states of human MutSβ by cryo-EM reveals interplay between ATP/ADP binding and heteroduplex DNA recognition.
Lee JH et al.
Nucleic Acids Research, 2025
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou
Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.
Gallon R et al.
Npj Precision Oncology, 2024
Unexpected moves: a conformational change in MutSα enables high-affinity DNA mismatch binding.
Bruekner SR et al.
Nucleic Acids Research, 2023
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.
Jia X et al.
American Journal of Human Genetics, 2021
33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet
Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.
Tubeuf H et al.
Human Mutation, 2020
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
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