Gene Ptpn2
Mostrando 13-21 de 21 artigos, teses e dissertações.
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13. Caracterização de uma nova proteina com repetições de anquirina, ANKHD1, na hematopoese normal e leucemica
Importante passo para a compreensão dos processos fisiopatológicos das neoplasias é a identificação de genes ativamente expressos e das funções biológicas de cada proteína codificada por estes genes. Ankyrin Repeat Single KH Domain containing 1 (ANKHD1) foi inicialmente identificada em células de adenocarcinoma de próstata humano (LNCaP), no ano d
Publicado em: 2007
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14. Caracterização de uma nova proteina com repetições de anquirina, ANKHD1, na hematopoese normal e leucemica
Importante passo para a compreensão dos processos fisiopatológicos das neoplasias é a identificação de genes ativamente expressos e das funções biológicas de cada proteína codificada por estes genes. Ankyrin Repeat Single KH Domain containing 1 (ANKHD1) foi inicialmente identificada em células de adenocarcinoma de próstata humano (LNCaP), no ano d
Publicado em: 2007
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15. Estudo do gene PTPN11 nos pacientes afetados pela síndrome de Noonan / The PTPN11 gene analysis in Noonan syndrome patients
INTRODUCTION: Noonan syndrome is an autosomal dominant disorder comprising short stature, facial dysmorphisms (ocular hypertelorism, downslanting palpebral fissures, palpebral ptosis, high arched palate and dental malocclusion), short and/or webbed neck, heart defects, mainly valvar pulmonary stenosis, sternal deformity and cryptorchidism in males. The PTPN1
Publicado em: 2006
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16. 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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17. 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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18. 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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19. PTPN2, a Candidate Gene for Type 1 Diabetes, Modulates Interferon-γ–Induced Pancreatic β-Cell Apoptosis
American Diabetes Association.
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20. Differential gene expression in pristane-induced arthritis susceptible DA versus resistant E3 rats
Arthritis susceptibility genes were sought by analysis of differential gene expression between pristane-induced arthritis (PIA)-susceptible DA rats and PIA-resistant E3 rats. Inguinal lymph nodes of naïve animals and animals 8 days after pristane injection were analyzed for differential gene expression. mRNA expression was investigated by microarray and rea
BioMed Central.
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21. 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.