Associated Papers
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 2025
Molecular, clinical, and prognostic implications of RAS pathway alterations in adult acute myeloid leukemia.
Zhang F et al.
Leukemia & Lymphoma, 2025
Deep mutational scanning of a multi-domain signaling protein reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Biorxiv : the Preprint Server for Biology, 2024
39091798 (PubMed )
Supplement: media-3.xlsx › SHP2-FL_cSrc-KD_column
The pathogenic T42A mutation in SHP2 rewires the interaction specificity of its N-terminal regulatory domain.
van Vlimmeren AE et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
The pathogenic T42A mutation in SHP2 rewires the interaction specificity of its N-terminal regulatory domain.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2024
Human Genetics of Atrioventricular Septal Defect.
Maslen CL
Advances in Experimental Medicine and Biology, 2024
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.
Sarkozy A et al.
American Journal of Medical Genetics. Part A, 2006
Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.
Keilhack H et al.
The Journal of Biological Chemistry, 2005
PTPN11 mutations play a minor role in isolated congenital heart disease.
Weismann CG et al.
American Journal of Medical Genetics. Part A, 2005
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