Gene Ptpn11
Mostrando 13-18 de 18 artigos, teses e dissertações.
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13. Bases Genéticas dos Distúrbios de Crescimento
A integridade do eixo GHRH-GH-IGF-I é fundamental para o crescimento normal de um indivíduo. Mutações nos genes responsáveis por cada uma das etapas deste eixo resultam em baixa estatura grave. Podemos dividir os distúrbios de crescimento em: 1. Deficiência de GH associada a deficiências de outros hormônios hipofisários por alterações em fatores
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2002-08
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14. Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene
Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness) syndrome is an autosomal dominant condition—characterized by lentigines and café au lait spots, facial anomalies, cardiac defects—that share
The American Society of Human Genetics.
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15. PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently demonstrated that mutations in PTPN11, the gene encoding the non–receptor-type protein tyrosine phosphatase SHP-2 (src homology region 2-domain phosphatase–2), cause NS, accounting for ∼50% of case
The American Society of Human Genetics.
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16. Mutations in CBL occur frequently in juvenile myelomonocytic leukemia
Juvenile myelomonocytic leukemia is an aggressive myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Seventy-five percent of patients harbor mutations in the NF1, NRAS, KRAS, or PTPN11 genes, which encode components of Ras signaling networks. Using sin
American Society of Hematology.
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17. Protein tyrosine phosphatase hPTPN20a is targeted to sites of actin polymerization
The human genome encodes 38 classical tyrosine-specific PTPs (protein tyrosine phosphatases). Many PTPs have been shown to regulate fundamental cellular processes and several are mutated in human diseases. We report that the product of the PTPN20 gene at the chromosome locus 10q11.2 is alternatively spliced to generate 16 possible variants of the classical h
Portland Press Ltd..
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18. Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome
Cardio‐facio‐cutaneous (CFC) syndrome, Noonan syndrome (NS), and Costello syndrome (CS) are clinically related developmental disorders that have been recently linked to mutations in the RAS/MEK/ERK signalling pathway. This study was a mutation analysis of the KRAS, BRAF, MEK1 and MEK2 genes in a total of 130 patients (40 patients with a clinical diagnosi
BMJ Group.