Dent's disease.

Dent's disease.

अन्य संस्करण दिखाएं (1)

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...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	Devuyst, O, Thakker, R
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	2010

समान संसाधन

Dent's disease
द्वारा: Thakker Rajesh V, और अन्य
प्रकाशित: (2010-10-01)

Dent's disease.
द्वारा: Neild, G, और अन्य
प्रकाशित: (2005)

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.
द्वारा: Devuyst, O, और अन्य
प्रकाशित: (1999)

Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients.
द्वारा: Moulin, P, और अन्य
प्रकाशित: (2003)

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

The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover.
द्वारा: Silva, I, और अन्य
प्रकाशित: (2003)

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

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

Dent disease
द्वारा: Rina R Rus, और अन्य
प्रकाशित: (2017-04-01)

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease.
द्वारा: Igarashi, T, और अन्य
प्रकाशित: (2000)

Renal chloride channel, CLCN5, mutations in Dent's disease.
द्वारा: Cox, J, और अन्य
प्रकाशित: (1999)

An overview of Dent disease
द्वारा: Eun Mi Yang, और अन्य
प्रकाशित: (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.
द्वारा: Reed, A, और अन्य
प्रकाशित: (2010)

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.
द्वारा: Norden, A, और अन्य
प्रकाशित: (2000)

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
द्वारा: Yamamoto, K, और अन्य
प्रकाशित: (2000)

Dens in Dente
द्वारा: Anita Balan, और अन्य
प्रकाशित: (2006-01-01)

Dent's like proximal renal tubular disorder in a First Nations' kindred.
द्वारा: Hadad, K, और अन्य
प्रकाशित: (1997)

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
द्वारा: Igarashi, T, और अन्य
प्रकाशित: (1998)

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
द्वारा: Gorvin, C, और अन्य
प्रकाशित: (2013)

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
द्वारा: Wu, F, और अन्य
प्रकाशित: (2009)

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
द्वारा: Smith, A, और अन्य
प्रकाशित: (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)
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1993)

Positional cloning of the gene responsible for dent's disease
द्वारा: Fisher, S, और अन्य
प्रकाशित: (1995)

Recurring renal lithiasis due to Dent’s disease
द्वारा: Miquel Amer-Mestre, और अन्य
प्रकाशित: (2023-09-01)

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis).
द्वारा: Fisher, S, और अन्य
प्रकाशित: (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.
द्वारा: Pook, M, और अन्य
प्रकाशित: (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
द्वारा: Thakker, R, और अन्य
प्रकाशित: (1994)

Evaluation of the nocivity of dent and combination of dent and gouge on burst pressure of steel pipe
द्वारा: Pluvinage G., और अन्य
प्रकाशित: (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).
द्वारा: Fisher, S, और अन्य
प्रकाशित: (1994)

Pulpotomia em dentes permanentes
द्वारा: JULIANA GOMES MEDEIROS, और अन्य
प्रकाशित: (2005-09-01)

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
द्वारा: Shrimpton, A, और अन्य
प्रकाशित: (2009)

Dent’s disease: case series from a single center
द्वारा: Hilal Yaşar, और अन्य
प्रकाशित: (2024-11-01)

A Case of Dent Disease in Children Presenting with Massive Proteinuria
द्वारा: LI Huarong, और अन्य
प्रकाशित: (2024-01-01)

DENTES SUPRANUMERÁRIOS RELATO DE CASO
द्वारा: STEFFI AMARAL, और अन्य
प्रकाशित: (2014-10-01)

Dentes Supranumerários: Um Achado Radiológico
द्वारा: Maria Godinho, और अन्य
प्रकाशित: (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
द्वारा: Manish Kumar Yadav, और अन्य
प्रकाशित: (2022-12-01)

Clinical features and genetic analysis of 15 Chinese children with dent disease
द्वारा: Qian Li, और अन्य
प्रकाशित: (2024-12-01)

Hyperthermia in the course of tetany in a child with Dent’s disease – case report
द्वारा: Beata Banaszak, और अन्य
प्रकाशित: (2023-12-01)

A novel likely pathogenic CLCN5 variant in Dent’s disease
द्वारा: S Hayward, और अन्य
प्रकाशित: (2023-08-01)

Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency
द्वारा: Justin J. Arnett, और अन्य
प्रकाशित: (2023-03-01)