Results 141 to 150 of about 14,972 (184)

The role of Shp2 (PTPN11) in cancer

Current Opinion in Genetics & Development, 2007
Tyrosyl phosphorylation, which is controlled by protein-tyrosine kinases (PTKs) and protein-tyrosine phosphatases (PTPs), regulates numerous cellular processes. Altered expression and/or mutations in PTKs are linked to many forms of cancer, yet until recently little was known about the roles of PTPs in normal cells or in cancer.
M Golam, Mohi, Benjamin G, Neel
openaire   +2 more sources

Spectrum of Mutations in PTPN11 in Russian Cohort

Genes
Noonan syndrome is a group of diseases with a similar clinical picture, consisting of 16 diseases caused by mutations in 15 genes. According to the literature, approximately half of all cases are attributed to Noonan syndrome type 1, NSML, caused by mutations in the PTPN11 gene.
Anna Orlova, Oxana Ryzhkova
exaly   +3 more sources

Hyperthrophic cardiomyopathy and the PTPN11 gene

American Journal of Medical Genetics Part A, 2005
[No abstract available]
Anna, Sarkozy, Emanuela, Conti, Francesca Romana, Lepri, Antonio, Pizzuti, Bruno, Dallapiccola, Camillo, Autore, Marco, Tartaglia   +6 more
openaire   +3 more sources

Childhood Myeloid Neoplasms With PTPN11 Mutations in Brazil

Clinical Lymphoma Myeloma and Leukemia, 2020
Abstract The diagnostic variables to distinguish myeloproliferative disorders (MPD) and acute myeloid leukemia (AML) is still a challenge in developing countries. We aimed to explore the prevalence of RAS pathways mutations with a focus on PTPN11 mutation in MPD and AML affecting pediatric patients.
Filipe Vicente dos Santos-Bueno, Francianne Gomes Andrade, Ingrid Sardou-Cezar, Daniela Palheiro Mendes-de-Almeida, Alython Araujo Chung-Filho, Gisele Dallapicola Brisson, Eugênia Terra-Granado, Elda Pereira Noronha, Luiz Claudio Santos Thuler, Maria S. Pombo-de-Oliveira, Marcelo dos Santos Souza, Eda Manzo, Carolina Iracema de Oliveira Rego Patricia Carneiro de Brito, Jose Carlos Cordoba, Regiana Quinto de Souza, Juliana Teixeira Costa, Ana Maria Marinho, Eloisa Cartaxo Eloy Fialho, Renato de Paula Guedes Oliveira, Gustavo Ribeiro Neves, Alayde Vieira Wanderley, Everaldo Ruiz Junior, Imaruí Costa   +22 more
openaire   +2 more sources

The tyrosine phosphatase Shp2 (PTPN11) in cancer

Cancer and Metastasis Reviews, 2008
Diverse cellular processes are regulated by tyrosyl phosphorylation, which is controlled by protein-tyrosine kinases (PTKs) and protein-tyrosine phosphatases (PTPs). De-regulated tyrosyl phosphorylation, evoked by gain-of-function mutations and/or over-expression of PTKs, contributes to the pathogenesis of many cancers and other human diseases.
Gordon, Chan, Demetrios, Kalaitzidis, Benjamin G, Neel   +2 more
openaire   +2 more sources

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy

European Journal of Medical Genetics, 2006
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease and a major cause of sudden death. It is an autosomal dominant disorder predominantly caused by mutations in genes encoding for sarcomeric proteins. Only 50-60% of HCM probands have mutations in known genes suggesting the presence of additional disease genes.
LIMONGELLI, Giuseppe, Hawkes L, Calabro’ R, McKenna WJ, Syrris P.   +4 more
openaire   +2 more sources

Activating Mutations in PTPN11 and KRAS in Canine Histiocytic Sarcomas [PDF]

Genes, 2019
While the genetic contributions to the predisposition of Bernese mountain dogs (BMDs) to histiocytic sarcoma (HS) remains unclear, some insights into key genetic drivers have been gained. Our group recently reported a mutation in the PTPN11 gene (E76K).
Marilia Takada, Vilma Yuzbasiyan-Gurkan, Tuddow Thaiwong   +2 more
exaly   +3 more sources

Noonan syndrome: Severe phenotype and PTPN11 mutations

Medicina Clínica (English Edition), 2019
Noonan syndrome (NS) is a genetic disorder characterized by a wide range of distinctive features and health problems. It caused in 50% of cases by missense mutations in PTPN11 gene. It has been postulated that it is possible to predict the disease course based into the impact of mutations on the protein.We report two cases of severe NS phenotype ...
Pilar, Carrasco Salas, Gertrudis, Gómez-Molina, Páxedes, Carreto-Alba, Reyes, Granell-Escobar, Ignacio, Vázquez-Rico, Antonio, León-Justel   +5 more
openaire   +2 more sources

Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation

American Journal of Medical Genetics Part A, 2013
ABSTRACTMedulloblastoma is the commonest brain tumor in childhood and in a minority of patients is associated with an underlying genetic disorder such as Gorlin syndrome or familial adenomatous polyposis. Increased susceptibility to certain tumors, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by ...
Julia, Rankin, John, Short, Peter, Turnpenny, Bruce, Castle, C Oliver, Hanemann   +4 more
openaire   +2 more sources

[PTPN11 and the deafness].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery, 2019
Summary PTPN11 gene encodes tyrosine phosphatase SHP-2 which locates on chromosome 12（12q24.1）, expresses in most embryonic and adult tissues, and plays pivotal roles in cell proliferation, differentiation, survival and cell death. SHP-2 apparently participates in signaling events downstream of RAS-MAPK and JAK/STAT.
H Y, Xu, Y Y, Yuan, P, Dai
openaire   +1 more source