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	Provedor de dados BJMBR (2) Autor Onuchic,L.F. (2) Bastos,A.P. (1) Menezes,L.F. (1) Palavra-chave Cystogenesis (2) Primary cilium (2) ARPKD (1) Autosomal dominant polycystic kidney disease (1) Autosomal recessive polycystic kidney disease (1) PKD1 gene (1) PKD2 gene (1) PKHD1 gene (1) Polycystic kidney disease (1) Polycystins 1 and 2 (1) Polyductin/Fibrocystin (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2011 (1) 2006 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Molecular and cellular pathogenesis of autosomal dominant polycystic kidney disease BJMBR Bastos,A.P.; Onuchic,L.F.. Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common human life-threatening monogenic disorders. The disease is characterized by bilateral, progressive renal cystogenesis and cyst and kidney enlargement, often leading to end-stage renal disease, and may include extrarenal manifestations. ADPKD is caused by mutation in one of two genes, PKD1 and PKD2, which encode polycystin-1 (PC1) and polycystin-2 (PC2), respectively. PC2 is a non-selective cation channel permeable to Ca2+, while PC1 is thought to function as a membrane receptor. The cyst cell phenotype includes increased proliferation and apoptosis, dedifferentiation, defective planar polarity, and a secretory pattern associated with extracellular matrix remodeling. The two-hit... Tipo: Info:eu-repo/semantics/article Palavras-chave: Autosomal dominant polycystic kidney disease; PKD1 gene; PKD2 gene; Polycystins 1 and 2; Cystogenesis; Primary cilium. Ano: 2011 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2011000700001 Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease BJMBR Menezes,L.F.; Onuchic,L.F.. Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver. The disorder is observed primarily in infancy and childhood, being responsible for significant pediatric morbidity and mortality. All typical forms of ARPKD are caused by mutations in a single gene, PKHD1 (polycystic kidney and hepatic disease 1). This gene has a minimum of 86 exons, assembled into multiple differentially spliced transcripts and has its highest level of expression in kidney, pancreas and liver. Mutational analyses revealed that all patients with both mutations associated with truncation of the longest open reading... Tipo: Info:eu-repo/semantics/article Palavras-chave: Autosomal recessive polycystic kidney disease; ARPKD; PKHD1 gene; Polyductin/Fibrocystin; Polycystic kidney disease; Primary cilium; Cystogenesis. Ano: 2006 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2006001200004 Registros recuperados: 2 Primeira ... 1 ... Última

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