Dent's disease.

Dent's disease.

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Dent's disease is a renal tubular disorder characterized by manifestations of proximal tubule dysfunction, including low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure. These features are generally found in males only, and may be p...

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Bibliografiske detaljer
Main Authors:	Devuyst, O, Thakker, R
Format:	Journal article
Sprog:	English
Udgivet:	2010

Lignende værker

Dent's disease
af: Thakker Rajesh V, et al.
Udgivet: (2010-10-01)

Dent's disease.
af: Neild, G, et al.
Udgivet: (2005)

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.
af: Devuyst, O, et al.
Udgivet: (1999)

Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients.
af: Moulin, P, et al.
Udgivet: (2003)

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
af: Thakker, R
Udgivet: (2000)

Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.
af: Thakker, R
Udgivet: (2000)

The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover.
af: Silva, I, et al.
Udgivet: (2003)

Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.
af: Wang, S, et al.
Udgivet: (2000)

Dent disease
af: Rina R Rus, et al.
Udgivet: (2017-04-01)

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease.
af: Igarashi, T, et al.
Udgivet: (2000)

Renal chloride channel, CLCN5, mutations in Dent's disease.
af: Cox, J, et al.
Udgivet: (1999)

An overview of Dent disease
af: Eun Mi Yang, et al.
Udgivet: (2023-12-01)

CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.
af: Reed, A, et al.
Udgivet: (2010)

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.
af: Norden, A, et al.
Udgivet: (2000)

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
af: Yamamoto, K, et al.
Udgivet: (2000)

Dens in Dente
af: Anita Balan, et al.
Udgivet: (2006-01-01)

Dent's like proximal renal tubular disorder in a First Nations' kindred.
af: Hadad, K, et al.
Udgivet: (1997)

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
af: Igarashi, T, et al.
Udgivet: (1998)

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
af: Gorvin, C, et al.
Udgivet: (2013)

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
af: Wu, F, et al.
Udgivet: (2009)

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
af: Smith, A, et al.
Udgivet: (2009)

THE GENE CAUSING DENTS DISEASE, A RENAL FANCONI SYNDROME WITH NEPHROCALCINOSIS AND KIDNEY-STONES, IS ON THE SHORT ARM OF THE X-CHROMOSOME (XP11.22)
af: Thakker, R, et al.
Udgivet: (1993)

Positional cloning of the gene responsible for dent's disease
af: Fisher, S, et al.
Udgivet: (1995)

Recurring renal lithiasis due to Dent’s disease
af: Miquel Amer-Mestre, et al.
Udgivet: (2023-09-01)

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).
af: Fisher, S, et al.
Udgivet: (1995)

Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
af: Pook, M, et al.
Udgivet: (1993)

MAPPING OF 2 HEREDITARY RENAL TUBULAR DISORDERS ASSOCIATED WITH KIDNEY-STONES, AND REFERRED TO AS DENT-DISEASE AND X-LINKED RECESSIVE NEPHROLITHIASIS, TO CHROMOSOME-XP11
af: Thakker, R, et al.
Udgivet: (1994)

Evaluation of the nocivity of dent and combination of dent and gouge on burst pressure of steel pipe
af: Pluvinage G., et al.
Udgivet: (2010-06-01)

Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis).
af: Fisher, S, et al.
Udgivet: (1994)

Pulpotomia em dentes permanentes
af: JULIANA GOMES MEDEIROS, et al.
Udgivet: (2005-09-01)

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
af: Shrimpton, A, et al.
Udgivet: (2009)

Dent’s disease: case series from a single center
af: Hilal Yaşar, et al.
Udgivet: (2024-11-01)

A Case of Dent Disease in Children Presenting with Massive Proteinuria
af: LI Huarong, et al.
Udgivet: (2024-01-01)

DENTES SUPRANUMERÁRIOS RELATO DE CASO
af: STEFFI AMARAL, et al.
Udgivet: (2014-10-01)

Dentes Supranumerários: Um Achado Radiológico
af: Maria Godinho, et al.
Udgivet: (2014-04-01)

Lentiviral vector mediated gene therapy for type I Dent disease ameliorates Dent disease-like phenotypes for three months in ClC-5 null mice
af: Manish Kumar Yadav, et al.
Udgivet: (2022-12-01)

Clinical features and genetic analysis of 15 Chinese children with dent disease
af: Qian Li, et al.
Udgivet: (2024-12-01)

Hyperthermia in the course of tetany in a child with Dent’s disease – case report
af: Beata Banaszak, et al.
Udgivet: (2023-12-01)

A novel likely pathogenic CLCN5 variant in Dent’s disease
af: S Hayward, et al.
Udgivet: (2023-08-01)

Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency
af: Justin J. Arnett, et al.
Udgivet: (2023-03-01)