Ptpn6 mutation
WebJul 10, 2024 · In past years, the mutation of Ptpn6 gene, which encodes a phosphatase PTPN6 (protein tyrosine phosphatase nonreceptor type 6) or SHP-1 (Src homology … WebPTPN6 - Explore an overview of PTPN6, with a histogram displaying coding mutations, full tabulated details of all associated variants, tissue distribution and any drug resistance data.
Ptpn6 mutation
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WebMay 26, 2013 · Mice carrying a missense mutation in the Ptpn6 gene that encodes for the tyrosine phosphatase SHP-1 spontaneously develop an autoinflammatory syndrome that resembles neutrophilic dermatosis in ... WebThis PTP is expressed primarily in hematopoietic cells, and functions as an important regulator of multiple signaling pathways in hematopoietic cells. This PTP has been shown to interact with, and dephosphorylate a wide spectrum of phospho-proteins involved in hematopoietic cell signaling.
WebDec 9, 2024 · Ptpn6 regulates the activity of more than 50 cytoplasmic signaling proteins and cell-surface receptors. In its absence, motheaten ( Ptpn6me/me) and motheaten viable ( Ptpn6mev/mev) Ptpn6... WebOct 30, 2014 · We addressed this question, by creating a model of conditional Ptpn6 deletion, to dissect the role of SHP-1 in NK cells and the mechanisms by which the inhibitory Ly49 and CD94/NKG2A receptors...
WebApr 18, 2024 · Given that the Ptpn6spin mutation in hematopoietic cells is critical for disease induction ( Figure 1 ), we hypothesized that SHP1-dependent regulation of tyrosine phosphorylation may likely be affected in myeloid cells. WebApr 9, 2024 · Hypomorphic Ptpn6 mutant mice with a homozygous Tyr208Asn amino acid mutation (exhibiting spontaneous inflammation, or spin, and referred to as Ptpn6spin mice here) develop persistent footpad swelling and suppurative inflammation that are very similar to neutrophilic dermatosis in humans ( 4, 5 ).
WebSep 22, 2000 · The SH2 domain-containing tyrosine phosphatase PTPN6 (SHP-1, PTP1C, HCP) is a 68 kDa cytoplasmic protein primarily expressed in hematopoietic cell development, proliferation and receptor-mediated mitogenic signaling pathways.
WebPtpn6m3Btlr Chemically induced Allele Detail Summary Mutation origin Mutation description Phenotypes Find Mice (IMSR) References Summary Mutation origin Mutation description Phenotypes View phenotypes and curated references for all genotypes (concatenated display). Find Mice (IMSR) References breakroom refrigerator clean upWebDec 6, 2014 · In the current study, we sequenced a set of 38 DLBCL tumor samples for genetic mutations of PTPN6. Bi-directional sequencing reactions were performed on … cost of nbc sports subscriptionWebApr 4, 2024 · Ets-2 deletion in myeloid cells attenuates IL-1alpha-mediated inflammatory disease caused by a Ptpn6 point mutation. Diabetes Impaired Ischemia-Induced PDGF … cost of nbc streaming serviceWebFeb 2, 2024 · PTPN6encodes SHP1, a protein tyrosine phosphatase with an essential role in immune cell function. SHP1 mutations are associated with neutrophilic dermatoses and emphysema in humans, which resembles the phenotype seen in motheatenmice that lack functional SHP1. cost of nbnWebSep 29, 2024 · Consistent with this, mouse models with spontaneous mutations in the gene encoding Shp1, Ptpn6, that affect its expression or function develop an inflammatory/autoimmune disease associated with hyperactivation … cost of nbc sports on rokuWebJun 8, 2015 · Using a stringent functional assessment algorithm, 102 mutations in 8 genes were identified in CLL patients, including hotspot regions of TP53, SF3B1, NOTCH1, … cost of nbc on rokuWebJul 24, 2013 · PTPN6 (spin) mice spontaneously develop a severe inflammatory syndrome that resembles neutrophilic dermatosis in humans and is characterized by persistent footpad swelling and suppurative inflammation. cost of nc car tag