A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3-Reference-Cited by-同舟云学术

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A young child with pseudohypoaldosteronism type II by a mutation of Cullin 3

Published:2013-07-31 Issue:1 Volume:14 Page:
ISSN:1471-2369
Container-title:BMC Nephrology
language:en
Short-container-title:BMC Nephrol

Author:

Tsuji Shoji,Yamashita Miyoko,Unishi Gen,Takewa Reiko,Kimata Takahisa,Isobe Kiyoshi,Chiga Motoko,Uchida Shinichi,Kaneko Kazunari

Publisher

Springer Science and Business Media LLC

Subject

Nephrology

Link

http://link.springer.com/article/10.1186/1471-2369-14-166/fulltext.html

Reference11 articles.

1. Gordon RD, Geddes RA, Pawsey CG, O'Halloran MW: Hypertension and severe hyperkalaemia associated with suppression of renin and aldosterone and completely reversed by dietary sodium restriction. Australas Ann Med. 1970, 19 (4): 287-294.

2. Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, et al: Human hypertension caused by mutations in WNK kinases. Science. 2001, 293 (5532): 1107-1112. 10.1126/science.1062844.

3. Yang SS, Morimoto T, Rai T, Chiga M, Sohara E, Ohno M, Uchida K, Lin SH, Moriguchi T, Shibuya H, et al: Molecular pathogenesis of pseudohypoaldosteronism type II: generation and analysis of a Wnk4(D561A/+) knockin mouse model. Cell Metab. 2007, 5 (5): 331-344. 10.1016/j.cmet.2007.03.009.

4. Boyden LM, Choi M, Choate KA, Nelson-Williams CJ, Farhi A, Toka HR, Tikhonova IR, Bjornson R, Mane SM, Colussi G, et al: Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities. Nature. 2012, 482 (7383): 98-102. 10.1038/nature10814.

5. Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, et al: KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron. Nat Genet. 2012, 44 (4): 456-460. 10.1038/ng.2218. S451-453

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