Complexity of the 5′UTR region of the CLCN5gene: eleven 5′UTR ends are differentially expressed in the human kidney-Reference-Cited by-同舟云学术

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Complexity of the 5′UTR region of the CLCN5gene: eleven 5′UTR ends are differentially expressed in the human kidney

Published:2014-07-07 Issue:1 Volume:7 Page:
ISSN:1755-8794
Container-title:BMC Medical Genomics
language:en
Short-container-title:BMC Med Genomics

Author:

Tosetto Enrica,Casarin Alberto,Salviati Leonardo,Familiari Alessandra,Lieske John C,Anglani Franca

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1755-8794-7-41.pdf

Reference34 articles.

1. Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV: A common molecular basis for three inherited kidney stone diseases. Nature. 1996, 379 (6564): 445-449.

2. Hayama A, Uchida S, Sasaki S, Marumo F: Isolation and characterization of the human CLC-5 chloride channel gene promoter. Gene. 2000, 261: 355-364.

3. Fisher SE, Van Bakel I, Lloyd SE, Pearce SHS, Thakker RV, Craig IW: Cloning and characterization of CLCN5, the human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics. 1995, 29 (3): 598-606.

4. Forino M, Graziotto R, Tosetto E, Gambaro G, D’Angelo A, Anglani F: Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5′ UTR end of ClC-5 mRNA in human renal tissue and leukocytes. J Hum Genet. 2004, 49 (1): 53-60.

5. Ludwig M, Waldegger S, Nuutinen M, Bökenkamp A, Reissinger A, Steckelbroeck S, Utsch B: Four additional CLCN5 exons encode a widely expressed novel long ClC-5 isoform but fail to explain Dent’s phenotype in patients without mutations in the short variant. Kidney Blood Press Res. 2003, 26 (3): 176-184.

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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. CLCN5 5’UTR isoforms in human kidneys: differential expression analysis between controls and patients with glomerulonephritis;Journal of Investigative Medicine;2020-02-03

5. CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease;Physiological Reviews;2018-07-01

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