Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease (Q34183683)

31 July 2017

Novel truncating mutations in the ClC-5 chloride channel gene in patients with Dent's disease (English)

1 reference

31 July 2017

Irma Carballo-Trujillo

1

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31 July 2017

Victor Garcia-Nieto

2

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31 July 2017

Francisco J Moya-Angeler

3

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31 July 2017

Montserrat Antón-Gamero

4

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31 July 2017

Cesar Loris

5

1 reference

31 July 2017

Sebastián Méndez-Alvarez

6

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31 July 2017

Felix Claverie-Martin

7

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31 July 2017

language of work or name

English

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publication date

1 April 2003

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Nephrology Dialysis Transplantation

31 July 2017

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31 July 2017

18

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31 July 2017

4

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31 July 2017

717-723

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A common molecular basis for three inherited kidney stone diseases

31 July 2017

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Molecular structure and physiological function of chloride channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

ClC-5, the chloride channel mutated in Dent's disease, colocalizes with the proton pump in endocytotically active kidney cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Identification of two novel mutations in the CLCN5 gene in Japanese patients with familial idiopathic low molecular weight proteinuria (Japanese Dent's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Functional characterization of renal chloride channel, CLCN5, mutations associated with Dent'sJapan disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

Chloride channel CLCN5 mutations in Japanese children with familial idiopathic low molecular weight proteinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFG016

21 January 2018

Identifiers

DOI

10.1093/NDT/GFG016

1 reference

31 July 2017

1 reference