Associated Papers
Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.
van Vlimmeren AE et al.
Embo Reports, 2025
Proximity-labeling proteomics reveals remodeled interactomes and altered localization of pathogenic SHP2 variants.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2025
Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants.
van Vlimmeren AE et al.
Biorxiv : the Preprint Server for Biology, 2025
Deep mutational scanning of the multi-domain phosphatase SHP2 reveals mechanisms of regulation and pathogenicity.
Jiang Z et al.
Nature Communications, 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
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
Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality.
Eboreime J et al.
Human Mutation, 2022
Understanding the Mechanism of Recognition of Gab2 by the N-SH2 Domain of SHP2.
Visconti L et al.
Life (basel, Switzerland), 2020
Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.
Alhumaid MS et al.
Acta Haematologica, 2020
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
Genome wide analysis of pathogenic SH2 domain mutations.
Lappalainen I et al.
Proteins, 2008
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.
Aoki Y et al.
Human Mutation, 2008
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.
Kratz CP et al.
Blood, 2005