Gene Phox2b
Mostrando 1-12 de 16 artigos, teses e dissertações.
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1. Síndrome de hipoventilação central congênita associada à doença de Hirschsprung: relato de caso e revisão de literatura
Resumo Objetivo: Relatar caso de neonato com episódios de apneias recorrentes, diagnosticado com síndrome de hipoventilação central congênita (SHCC) associada à doença de Hirschsprung (DH), o que configurou síndrome de Haddad. Descrição do caso: Terceiro filho de casal não consanguíneo, nascido a termo, parto normal sem intercorrências, peso e
Rev. paul. pediatr.. Publicado em: 2016-09
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2. The role of nuclear factor kappa B (NF-kB) and the IL-12/23-IFN-g axis in the activation of the NADPH oxidase system. / O papel do fator nuclear kappa B (NF-kB) e do eixo IL-12/23-IFN-g na ativação do sistema NADPH oxidase.
O sistema NADPH oxidase é um complexo enzimático gerador de superóxido. O NF-kB é um fator de transcrição envolvido no controle da expressão de diversos genes ligados à resposta inflamatória. Defeitos no eixo IL-12/23-IFN-g resultam em infecções recorrentes e à susceptibilidade mendeliana a micobacterioses, podendo diminuir a expressão do compon
Publicado em: 2009
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3. Effect of BAY 41-2272 on the NADPH oxidase system from human myelomonocytics cells, THP-1 / Efeito do BAY 41-2272 sobre o sistema NADPH oxidase em celulas mielomonociticas humanas, THP-1
Investigamos os efeitos do BAY 41-2272 (5-cyclopropyl-2- [1-(2-fluoro-benzyl)-1H-pyrazolo[3,4-b]pyridin-3-yl]-pyrimidin-4-ylamine) sobre a atividade do sistema NADPH (nicotinamide adenine dinucleotide phosphate) oxidase e expressão do gene CYBB que codifica seu componente principal, a proteína gp91-phox , simultaneamente aos níveis intracelulares de GMPc
Publicado em: 2006
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4. Adaptação metabólica em granulócitos humanos induzida pelo processo envelhecimento e Diabetes Mellitus: papel das vias de sinalização cMP/PKA, AKt/PKB, p38 MAPK e fosfoinositídeos.
O envelhecimento biológico é um processo complexo caracterizado por diferenças espécies-específicas bem como tecidos-específicos e por mecanismos de mudanças moleculares e fisiológicas relacionadas à idade. Evidências têm sido obtidas de que o envelhecimento biológico abrange diversos parâmetros intimamente relacionados, como: taxa metabólica,
Publicado em: 2006
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5. Estudo genetico-molecular da doença granulomatosa cronica
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency characterized by ear1y onset recurrent severe infections. The molecular defects causing CGD are generally due to the absence, low expression or malfunctioning of one of the NADPH oxidase components. This work analyzed the potential use of reverse transcription (RT)PCR for screening molecu
Publicado em: 2004
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6. Liberação de radicais livres por leucocitos de pacientes com anemia falciforme
Sickle cell anemia is a genetic disorder of red blood cells characterized by chronic hemolysis and episodic vaso-oclusive crisis. The molecular defect is caused by a point mutation at the 6thposition ofthe f3chain ofhemoblobin, which leads erythrocytes to abnormal sickle shape, rigidity, deformability and distortion with consequent blood flow obstruction. A
Publicado em: 2002
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7. Central hypoventilation with PHOX2B expansion mutation presenting in adulthood
Congenital central hypoventilation syndrome most commonly presents in neonates with sleep related hypoventilation; late onset cases have occurred up to the age of 10 years. It is associated with mutations in the PHOX2B gene, encoding a transcription factor involved in autonomic nervous system development. The case history is described of an adult who prese
BMJ Group.
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8. Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population
BMJ Group.
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9. O2- production by B lymphocytes lacking the respiratory burst oxidase subunit p47phox after transfection with an expression vector containing a p47phox cDNA.
The respiratory burst oxidase of phagocytes and B lymphocytes is a complicated enzyme that catalyzes the one-electron reduction of oxygen by NADPH. It is responsible for the O2- production that occurs when these cells are exposed to phorbol 12-myristate 13-acetate or other appropriate stimuli. The activity of this enzyme is greatly decreased or absent in pat
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10. Abnormal development of the locus coeruleus in Ear2(Nr2f6)-deficient mice impairs the functionality of the forebrain clock and affects nociception
The orphan nuclear receptor Ear2 (Nr2f6) is transiently expressed in the rostral part of the rhombic lip in which the locus coeruleus (LC) arises. LC development, regulated by a signaling cascade (Mash1 → Phox2b → Phox2a), is disrupted in Ear2-/- embryos as revealed by an approximately threefold reduction in the number of Phox2a- and Phox2b-expressing LC
Cold Spring Harbor Laboratory Press.
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11. Structure, expression, and biological function of INSM1 transcription factor in neuroendocrine differentiation
Zinc-finger transcription factors are DNA-binding proteins that are implicated in many diverse biological functions. INSM1 (formerly IA-1) contains five zinc-finger motifs and functions as a transcription factor. INSM1 protein structure is highly conserved in homologues of different species. It is predominantly expressed in developing neuroendocrine tissues
The Federation of American Societies for Experimental Biology.
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12. Efficacies of Fluconazole, Caspofungin, and Amphotericin B in Candida glabrata-Infected p47phox−/− Knockout Mice
Candida glabrata is the second leading cause of adult candidemia, resulting in high mortality. Amphotericin B is considered the treatment of choice, while the efficacy of fluconazole is controversial and caspofungin efficacy is unknown. To ascertain drug efficacy in vivo, the utility of a murine model of C. glabrata infection was investigated. C. glabrata wa
American Society for Microbiology.