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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מידע ביבליוגרפי
Main Authors:	Devuyst, O, Thakker, R
פורמט:	Journal article
שפה:	English
יצא לאור:	2010

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Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.
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Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients.
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Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis.
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Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome.
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The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover.
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Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.
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CLC-5 and KIF3B interact to facilitate CLC-5 plasma membrane expression, endocytosis, and microtubular transport: relevance to pathophysiology of Dent's disease.
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Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.
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Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
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Dent's like proximal renal tubular disorder in a First Nations' kindred.
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Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
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Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
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Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
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Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
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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)
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Positional cloning of the gene responsible for dent's disease
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Dent's disease, a renal Fanconi syndrome with nephrocalcinosis and kidney stones, is associated with a microdeletion involving DXS255 and maps to Xp11.22.
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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
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Evaluation of the nocivity of dent and combination of dent and gouge on burst pressure of steel pipe
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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).
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Pulpotomia em dentes permanentes
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OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
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Lentiviral vector mediated gene therapy for type I Dent disease ameliorates Dent disease-like phenotypes for three months in ClC-5 null mice
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Clinical features and genetic analysis of 15 Chinese children with dent disease
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Hyperthermia in the course of tetany in a child with Dent’s disease – case report
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A novel likely pathogenic CLCN5 variant in Dent’s disease
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Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency
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