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Role of PTPN11 (SHP2) in Cancer
2016Src homology-2 domain-containing phosphatase 2 (SHP2), encoded by the PTPN11 gene, is a highly conserved, non-transmembrane protein-tyrosine phosphatase (PTP), found in all metazoans. The molecular details of SHP2 regulation by phosphotyrosyl (pTyr) peptide ligand binding are well-understood, and knowledge of these details is critical to understanding ...
Gordon Chan, Benjamin G. Neel
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Nonsyndromic Pulmonary Valve Stenosis and the PTPN11 Gene
American Journal of Medical Genetics Part A, 2003[No abstract available]
Anna Sarkozy +8 more
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The regulation of male fertility by the PTPN11 tyrosine phosphatase
Seminars in Cell & Developmental Biology, 2016PTPN11 (also known as SHP2) is a ubiquitously expressed non-receptor tyrosine phosphatase that regulates cell survival, proliferation, differentiation, migration and adhesion. Naturally occurring mutations in the PTPN11 gene cause Noonan and LEOPARD syndromes, two genetic disorders that are characterized by a spectrum of defects including male ...
Pawan, Puri, William H, Walker
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Response to trametinib of histiocytosis with an activating PTPN11 mutation
Leukemia & Lymphoma, 2019Histiocytoses are disorders characterized by the accumulation of cells with the morphology and phenotype of dendritic cells or macrophages.
Farnault, L +8 more
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PTPN11 gene mutation associated with abnormal gonadal determination
American Journal of Medical Genetics Part A, 2011AbstractGermline mutations in thePTPN11gene have been associated with Noonan syndrome (NS) and LEOPARD syndrome. Both germline and somatic mutations in this gene have been reported in association with malignancies. However, theT507Kmutation in thePTPN11gene, has only been reported in malignancies and in a fetus with hydrops fetalis but not in a live ...
Shailly, Jain Ghai +2 more
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Germ-line and somatic PTPN11 mutations in human disease
European Journal of Medical Genetics, 2005Reversible protein tyrosyl phosphorylation of cell surface receptors and downstream intracellular transducers is a major regulatory mechanism used to modulate cellular responses to extracellular stimuli, and its deregulation frequently drives aberrant cell proliferation, survival and/or differentiation.
Marco, Tartaglia, Bruce D, Gelb
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Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation
Pediatric Blood & Cancer, 2008AbstractAlthough Noonan syndrome (NS) is occasionally associated with embryonal solid tumors, there has been no report of hepatoblastoma in NS. We identified hepatoblastoma spreading into bilateral hepatic lobes in a 1‐month‐old NS patient with a heterozygous PTPN11 mutation (Asn308Asp).
Rie, Yoshida +3 more
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Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis
Blood, 2004The PTPN11 gene encodes SHP-2 (Src homology 2 domain-containing protein tyrosine Phosphatase), a nonreceptor tyrosine protein tyrosine phosphatase (PTPase) that relays signals from activated growth factor receptors to p21Ras (Ras) and other signaling molecules.
Mignon L, Loh +15 more
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[PTPN11 gene mutation in LEOPARD syndrome].
Minerva pediatrica, 2006The multiple lentigines/LEOPARD syndrome (ML/LS) is a rare and complex genetic syndrome. It is an autosomal dominant disorder with a variable expressivity. The syndrome is mainly characterised by growth retardation, multiple lentigines, and congenital heart diseases with electrocardiographic anomalies, dysmorphia of the face and deafness. The incidence
M, Paradisi +6 more
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