Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report-Reference-Cited by-同舟云学术

Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report

Published:2015-07-02 Issue:1 Volume:16 Page:
ISSN:1471-2369
Container-title:BMC Nephrology
language:en
Short-container-title:BMC Nephrol

Author:

Yamaguti Paulo Marcio,dos Santos Pollyanna Almeida Costa,Leal Bruno Sakamoto,Santana Viviane Brandão Bandeira de Mello,Mazzeu Juliana Forte,Acevedo Ana Carolina,Neves Francisco de Assis Rocha

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

http://link.springer.com/article/10.1186/s12882-015-0079-4/fulltext.html

Reference30 articles.

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2. Konrad M, Schaller A, Seelow D, Pandey AV, Waldegger S, Lesslauer A, et al. Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet. 2006;79(5):949–57. doi:10.1086/508617.

3. Simon DB, Lu Y, Choate KA, Velazquez H, Al-Sabban E, Praga M, et al. Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science. 1999;285(5424):103–6.

4. Miyamoto T, Morita K, Takemoto D, Takeuchi K, Kitano Y, Miyakawa T, et al. Tight junctions in Schwann cells of peripheral myelinated axons: a lesson from claudin-19-deficient mice. J Cell Biol. 2005;169(3):527–38. doi:10.1083/jcb.200501154.

5. Hou J, Renigunta A, Konrad M, Gomes AS, Schneeberger EE, Paul DL, et al. Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex. J Clin Invest. 2008;118(2):619–28. doi:10.1172/JCI33970.

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