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	Provedor de dados BJMBR (2) Autor Abreu,C.C. (1) Aguiar-Alves,F. (1) Almeida,J.R. (1) Bleyer,A.J. (1) Carvalho,M. (1) Guimaraes,L.E.R. (1) Kidd,K.O. (1) Kmoch,S. (1) Lopes,L.B. (1) Mulinari,R.A. (1) Nakagawa,Y. (1) Silva,A.A. (1) Souza,C.F. (1) Mais... Palavra-chave Uromodulin (2) Calcium oxalate (1) Chronic kidney disease (1) Genetic kidney diseases (1) Genetic mutation (1) Nephrolithiasis (1) Tamm-Horsfall protein (1) UMOD (1) Uromodulin kidney disease (1) Mais... Tipo do documento Info:eu-repo/semantics/article (2) Ano 2018 (1) 2002 (1) País Brazil (2) Idioma Inglês (2)		Ordenar por:  Relevância Autor Título Ano Registros recuperados: 2 Primeira ... 1 ... Última Identification of a novel UMOD mutation (c.163G>A) in a Brazilian family with autosomal dominant tubulointerstitial kidney disease BJMBR Lopes,L.B.; Abreu,C.C.; Souza,C.F.; Guimaraes,L.E.R.; Silva,A.A.; Aguiar-Alves,F.; Kidd,K.O.; Kmoch,S.; Bleyer,A.J.; Almeida,J.R.. Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confirmed case of a multi-generational Brazilian family with ADTKD-UMOD, caused by a novel heterozygous mutation (c.163G>A, GGC→AGC, p.Gly55Ser) in the UMOD gene. Of 41 family members, 22 underwent genetic analysis, with 11 individuals found to have this mutation. Three affected individuals underwent hemodialysis, one peritoneal dialysis, and one patient received a kidney transplant from a family member later found to be genetically affected. Several younger... Tipo: Info:eu-repo/semantics/article Palavras-chave: Chronic kidney disease; Uromodulin kidney disease; Genetic mutation; Uromodulin; UMOD; Genetic kidney diseases. Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018000300616 Role of Tamm-Horsfall protein and uromodulin in calcium oxalate crystallization BJMBR Carvalho,M.; Mulinari,R.A.; Nakagawa,Y.. One of the defenses against nephrolithiasis is provided by macromolecules that modulate the nucleation, growth, aggregation and retention of crystals in the kidneys. The aim of the present study was to determine the behavior of two of these proteins, Tamm-Horsfall and uromodulin, in calcium oxalate crystallization in vitro. We studied a group of 10 male stone formers who had formed at least one kidney stone composed of calcium oxalate. They were classified as having idiopathic nephrolithiasis and had no well-known metabolic risk factors involved in kidney stone pathogenesis. Ten normal men were used as controls, as was a group consisting of five normal women and another consisting of five pregnant women. Crystallization was induced by a fixed... Tipo: Info:eu-repo/semantics/article Palavras-chave: Tamm-Horsfall protein; Uromodulin; Calcium oxalate; Nephrolithiasis. Ano: 2002 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2002001000009 Registros recuperados: 2 Primeira ... 1 ... Última

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