Matches in SemOpenAlex for { <https://semopenalex.org/work/W4308336316> ?p ?o ?g. }
- W4308336316 abstract "Src homology region 2 (SH2)-containing protein tyrosine phosphatase 2 (SHP2) is a highly conserved protein tyrosine phosphatase (PTP), which is encoded by PTPN11 and is indispensable during embryonic development. Mutations in PTPN11 in human patients cause aberrant signaling of SHP2, resulting in multiple rare hereditary diseases, including Noonan Syndrome (NS), Noonan Syndrome with Multiple Lentigines (NSML), Juvenile Myelomonocytic Leukemia (JMML) and Metachondromatosis (MC). Somatic mutations in PTPN11 have been found to cause cancer. Here, we focus on the role of SHP2 variants in rare diseases and advances in the understanding of its pathogenesis using model systems." @default.
- W4308336316 created "2022-11-11" @default.
- W4308336316 creator A5003389965 @default.
- W4308336316 creator A5037786135 @default.
- W4308336316 creator A5070673502 @default.
- W4308336316 date "2022-11-04" @default.
- W4308336316 modified "2023-09-27" @default.
- W4308336316 title "Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2" @default.
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