Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization-Reference-Cited by-同舟云学术

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Functional evaluation of Dent’s disease-causing mutations: implications for ClC-5 channel trafficking and internalization

Published:2005-05-14 Issue:2-3 Volume:117 Page:228-237
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ludwig Michael,Doroszewicz Jolanta,Seyberth Hannsjörg W.,Bökenkamp Arend,Balluch Bernd,Nuutinen Matti,Utsch Boris,Waldegger Siegfried

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-005-1303-2.pdf

Reference58 articles.

1. Akuta N, Lloyd SE, Igarashi T, Shiraga H, Matsuyama T, Yokoro S, Cox JPD, Thakker RV (1997) Mutations of CLCN5 in Japanese children with idiopathic low molecular weight proteinuria, hypercalciuria and nephrocalcinosis. Kidney Int 52:911–916

2. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL (1992) The Lowe’s oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature 358:239–242

3. Bateman A (1997) The structure of a domain common to archaebacteria and the homocystinuria disease protein. Trends Biochem Sci 22:12–13

4. Bonnardeaux A, Bichet DG (2000) Inherited disorders of the renal tubule. In: Brenner BM (ed) The kidney. Saunders, Philadelphia, p 1656

5. Bosio M, Bianchi ML, Lloyd SE, Thakker RV (1999) A familial syndrome due to Arg648Stop mutation in the X-linked renal chloride channel gene. Pediatr Nephrol 13:278–283

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1. Clinical features and genetic analysis of 15 Chinese children with dent disease;Renal Failure;2024-05-10

2. Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon;Human Genetics;2020-08-29

3. From protein uptake to Dent disease: An overview of the CLCN5 gene;Gene;2020-07

4. Cl− and H+ coupling properties and subcellular localizations of wildtype and disease-associated variants of the voltage-gated Cl−/H+ exchanger ClC-5;Journal of Biological Chemistry;2020-02

5. Genetic Analyses in Dent Disease and Characterization of CLCN5 Mutations in Kidney Biopsies;International Journal of Molecular Sciences;2020-01-14

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