The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel-Reference-Cited by-同舟云学术

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The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel

Published:2011-01-11 Issue:4 Volume:461 Page:423-435
ISSN:0031-6768
Container-title:Pflügers Archiv - European Journal of Physiology
language:en
Short-container-title:Pflugers Arch - Eur J Physiol

Author:

Bandulik Sascha,Schmidt Katharina,Bockenhauer Detlef,Zdebik Anselm A.,Humberg Evelyn,Kleta Robert,Warth Richard,Reichold Markus

Publisher

Springer Science and Business Media LLC

Subject

Physiology (medical),Clinical Biochemistry,Physiology

Link

http://link.springer.com/content/pdf/10.1007/s00424-010-0915-0.pdf

Reference99 articles.

1. Adalat S, Woolf AS, Johnstone KA, Wirsing A, Harries LW, Long DA, Hennekam RC, Ledermann SE, Rees L, van't Hoff W, Marks SD, Trompeter RS, Tullus K, Winyard PJ, Cansick J, Mushtaq I, Dhillon HK, Bingham C, Edghill EL, Shroff R, Stanescu H, Ryffel GU, Ellard S, Bockenhauer D (2009) HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol 20(5):1123–1131

2. Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC, Pavanello L, Gastaldi R, Isimbaldi C, Lama G (1992) Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120(1):38–43

3. Bichet D, Haass FA, Jan LY (2003) Merging functional studies with structures of inward-rectifier K(+) channels. Nat Rev Neurosci 4(12):957–967

4. Bindels RJ (2010) 2009 Homer W. Smith award: Minerals in motion: from new ion transporters to new concepts. J Am Soc Nephrol 21(8):1263–1269

5. Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R (2009) Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360(19):1960–1970

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