De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease (Q79187803)

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20 December 2019

title

De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease (English)

1 reference

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20 December 2019

author

Felix Claverie-Martin

1

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20 December 2019

author name string

Hilaria González-Acosta

2

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20 December 2019

Carlos Flores

3

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20 December 2019

Montserrat Antón-Gamero

4

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20 December 2019

Víctor García-Nieto

5

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20 December 2019

publication date

29 August 2003

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20 December 2019

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20 December 2019

volume

113

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20 December 2019

issue

6

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20 December 2019

page(s)

480-485

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https://scigraph.springernature.com/pub.10.1007/s00439-003-0991-8

20 December 2019

exact match

0 references

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

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

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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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Intra-renal and subcellular distribution of the human chloride channel, CLC-5, reveals a pathophysiological basis for Dent's disease

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

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12 December 2020

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

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12 December 2020

Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism

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

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