Dent's disease.

Dent's disease.

Εμφάνιση άλλων εκδόσεων (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...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Devuyst, O, Thakker, R
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2010

Παρόμοια τεκμήρια

Dent's disease
ανά: Thakker Rajesh V, κ.ά.
Έκδοση: (2010-10-01)

Dent's disease.
ανά: Neild, G, κ.ά.
Έκδοση: (2005)

Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease.
ανά: Devuyst, O, κ.ά.
Έκδοση: (1999)

Altered polarity and expression of H+-ATPase without ultrastructural changes in kidneys of Dent's disease patients.
ανά: Moulin, P, κ.ά.
Έκδοση: (2003)

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

The ClC-5 knockout mouse model of Dent's disease has renal hypercalciuria and increased bone turnover.
ανά: Silva, I, κ.ά.
Έκδοση: (2003)

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

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

Dent disease
ανά: Rina R Rus, κ.ά.
Έκδοση: (2017-04-01)

Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease.
ανά: Igarashi, T, κ.ά.
Έκδοση: (2000)

Renal chloride channel, CLCN5, mutations in Dent's disease.
ανά: Cox, J, κ.ά.
Έκδοση: (1999)

An overview of Dent disease
ανά: Eun Mi Yang, κ.ά.
Έκδοση: (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.
ανά: Reed, A, κ.ά.
Έκδοση: (2010)

Tubular proteinuria defined by a study of Dent's (CLCN5 mutation) and other tubular diseases.
ανά: Norden, A, κ.ά.
Έκδοση: (2000)

Characterization of renal chloride channel (CLCN5) mutations in Dent's disease.
ανά: Yamamoto, K, κ.ά.
Έκδοση: (2000)

Dens in Dente
ανά: Anita Balan, κ.ά.
Έκδοση: (2006-01-01)

Dent's like proximal renal tubular disorder in a First Nations' kindred.
ανά: Hadad, K, κ.ά.
Έκδοση: (1997)

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.
ανά: Igarashi, T, κ.ά.
Έκδοση: (1998)

Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
ανά: Gorvin, C, κ.ά.
Έκδοση: (2013)

Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease.
ανά: Wu, F, κ.ά.
Έκδοση: (2009)

Characterization of Dent's disease mutations of CLC-5 reveals a correlation between functional and cell biological consequences and protein structure.
ανά: Smith, A, κ.ά.
Έκδοση: (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)
ανά: Thakker, R, κ.ά.
Έκδοση: (1993)

Positional cloning of the gene responsible for dent's disease
ανά: Fisher, S, κ.ά.
Έκδοση: (1995)

Recurring renal lithiasis due to Dent’s disease
ανά: Miquel Amer-Mestre, κ.ά.
Έκδοση: (2023-09-01)

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

Evaluation of the nocivity of dent and combination of dent and gouge on burst pressure of steel pipe
ανά: Pluvinage G., κ.ά.
Έκδοση: (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).
ανά: Fisher, S, κ.ά.
Έκδοση: (1994)

Pulpotomia em dentes permanentes
ανά: JULIANA GOMES MEDEIROS, κ.ά.
Έκδοση: (2005-09-01)

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.
ανά: Shrimpton, A, κ.ά.
Έκδοση: (2009)

Dent’s disease: case series from a single center
ανά: Hilal Yaşar, κ.ά.
Έκδοση: (2024-11-01)

A Case of Dent Disease in Children Presenting with Massive Proteinuria
ανά: LI Huarong, κ.ά.
Έκδοση: (2024-01-01)

DENTES SUPRANUMERÁRIOS RELATO DE CASO
ανά: STEFFI AMARAL, κ.ά.
Έκδοση: (2014-10-01)

Dentes Supranumerários: Um Achado Radiológico
ανά: Maria Godinho, κ.ά.
Έκδοση: (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
ανά: Manish Kumar Yadav, κ.ά.
Έκδοση: (2022-12-01)

Clinical features and genetic analysis of 15 Chinese children with dent disease
ανά: Qian Li, κ.ά.
Έκδοση: (2024-12-01)

Hyperthermia in the course of tetany in a child with Dent’s disease – case report
ανά: Beata Banaszak, κ.ά.
Έκδοση: (2023-12-01)

A novel likely pathogenic CLCN5 variant in Dent’s disease
ανά: S Hayward, κ.ά.
Έκδοση: (2023-08-01)

Dent disease presenting with nyctalopia and electroretinographic correlates of vitamin A deficiency
ανά: Justin J. Arnett, κ.ά.
Έκδοση: (2023-03-01)