Results 11 to 20 of about 14,972 (184)
Leukemogenic Ptpn11 allele causes defective erythropoiesis in mice. [PDF]
PLoS ONE, 2014 Src homology 2 (SH2) domain-containing phosphatase 2 (SHP2), encoded by PTPN11, regulates signaling networks and cell fate in many tissues. Expression of oncogenic PTPN11 in the hematopoietic compartment causes myeloproliferative neoplasm (MPN) in humans
Tatiana Usenko +4 more
doaj +4 more sources
Distinct and overlapping functions of ptpn11 genes in Zebrafish development. [PDF]
PLoS ONE, 2014 The PTPN11 (protein-tyrosine phosphatase, non-receptor type 11) gene encodes SHP2, a cytoplasmic PTP that is essential for vertebrate development. Mutations in PTPN11 are associated with Noonan and LEOPARD syndrome.
Monica Bonetti +6 more
doaj +4 more sources
Loss of Ptpn11 (Shp2) drives satellite cells into quiescence [PDF]
eLife, 2017 The equilibrium between proliferation and quiescence of myogenic progenitor and stem cells is tightly regulated to ensure appropriate skeletal muscle growth and repair.
Joscha Griger +7 more
doaj +3 more sources
LEOPARD Syndrome with a Sporadic PTPN11 Mutation in a Saudi Patient
Case Reports in Dermatological Medicine, 2023 LEOPARD syndrome (LS) is a rare autosomal dominant inherited or sporadic genetic disorder caused commonly by missense mutations in the protein-tyrosine phosphatase-nonreceptor type 11 (PTPN11) gene.
Hussein M. Alshamrani +4 more
doaj +3 more sources
PTPN11 mutations in LEOPARD syndrome [PDF]
Journal of Medical Genetics, 2002 LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. Deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with LEOPARD syndrome.
E, Legius +5 more
openaire +2 more sources
Noonan syndrome-causing genes: Molecular update and an assessment of the mutation rate
International Journal of Pediatrics & Adolescent Medicine, 2016 Noonan syndrome is a common autosomal dominant disorder characterized by short stature, congenital heart disease and facial dysmorphia with an incidence of 1/1000 to 2500 live births.
Ihssane El Bouchikhi +7 more
doaj +1 more source
Biomedicines, 2023 Mometasone furoate (MF) is a kind of glucocorticoid with extensive pharmacological actions, including inhibiting tumor progression; however, the role of MF in head and neck squamous cell carcinoma (HNSCC) is still unclear.
Lin Qiu +4 more
doaj +1 more source
Functional short tandem repeat polymorphism of PTPN11 and susceptibility to hepatocellular carcinoma in Chinese populations. [PDF]
PLoS ONE, 2014 BACKGROUND: PTPN11, which encodes tyrosine phosphatase Shp2, is a critical gene mediating cellular responses to hormones and cytokines. Loss of Shp2 promotes hepatocellular carcinoma (HCC), suggesting that PTPN11 functions as a tumor suppressor in HCC ...
Xiankun Zhao +12 more
doaj +1 more source
Frontiers in Cell and Developmental Biology, 2022 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.
Maja Solman +3 more
doaj +1 more source
Genomic profiling of primary histiocytic sarcoma reveals two molecular subgroups
Haematologica, 2020 Histiocytic sarcoma is a rare malignant neoplasm that may occur de novo or in the context of a previous hematologic malignancy or mediastinal germ cell tumor.
Caoimhe Egan +13 more
doaj +1 more source