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
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24493
Abstract: Some spontaneous germline gain‐of‐function mutations promote spermatogonial stem cell clonal expansion and disproportionate variant sperm production leading to unexpectedly high transmission rates for some human genetic conditions. To measure the frequency and spatial distribution of… read more here.
Keywords: hgnc 9644; ptpn11 hgnc; germline; germline selection ... See more keywords
CCL3 is a key mediator for the leukemogenic effect of Ptpn11-activating mutations in the stem-cell microenvironment.
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DOI: 10.1182/blood-2017-06-791103
Abstract: To the editor: Germ line–activating mutations of protein tyrosine phosphatase PTPN11 (Shp2), a positive regulator of the Ras signaling pathway,[1][1] account for more than 50% of patients with Noonan syndrome.[2][2] These patients have an increased… read more here.
Keywords: ptpn11; ccl3 key; activating mutations; key mediator ... See more keywords
Impact of circ-0000221 in the Pathogenesis of Hepatocellular via Modulation of miR-661–PTPN11 mRNA Axis
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DOI: 10.3390/pharmaceutics14010138
Abstract: Hepatocellular carcinoma (HCC) is a leading cause of cancer-related death in Egypt. A deep understanding of the molecular events occurring in HCC can facilitate the development of novel diagnostic and/or therapeutic approaches. In the present… read more here.
Keywords: circ 0000221; hcc; ptpn11 mrna; hsa circ ... See more keywords
Role of SHP2/PTPN11 in the occurrence and prognosis of cancer: A systematic review and meta-analysis
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DOI: 10.3892/ol.2022.13605
Abstract: Src homology-2 domain-containing protein tyrosine phosphatase (SHP2)/PTP non-receptor type 11 (PTPN11) have been reported to be expressed in a variety of solid tumors, though its role in tumors remains controversial. The aim of the present… read more here.
Keywords: role; expression; shp2 ptpn11; ptpn11 ... See more keywords