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Invalidation of TASK1 potassium channels disrupts adrenal gland zonation and mineralocorticoid homeostasis.
Heitzmann D, Derand R, Jungbauer S, Bandulik S, Sterner C, Schweda F, El Wakil A, Lalli E, Guy N, Mengual R, Reichold M, Tegtmeier I, Bendahhou S, Gomez-Sanchez CE, Aller MI, Wisden W, Weber A, Lesage F, Warth R, Barhanin J. Heitzmann D, et al. Among authors: warth r. EMBO J. 2008 Jan 9;27(1):179-87. doi: 10.1038/sj.emboj.7601934. Epub 2007 Nov 22. EMBO J. 2008. PMID: 18034154 Free PMC article.
Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
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. Bockenhauer D, et al. Among authors: warth r. N Engl J Med. 2009 May 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276. N Engl J Med. 2009. PMID: 19420365 Free PMC article.
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R. Reichold M, et al. Among authors: warth r. Proc Natl Acad Sci U S A. 2010 Aug 10;107(32):14490-5. doi: 10.1073/pnas.1003072107. Epub 2010 Jul 22. Proc Natl Acad Sci U S A. 2010. PMID: 20651251 Free PMC article.
KCNJ5 mutations in European families with nonglucocorticoid remediable familial hyperaldosteronism.
Mulatero P, Tauber P, Zennaro MC, Monticone S, Lang K, Beuschlein F, Fischer E, Tizzani D, Pallauf A, Viola A, Amar L, Williams TA, Strom TM, Graf E, Bandulik S, Penton D, Plouin PF, Warth R, Allolio B, Jeunemaitre X, Veglio F, Reincke M. Mulatero P, et al. Among authors: warth r. Hypertension. 2012 Feb;59(2):235-40. doi: 10.1161/HYPERTENSIONAHA.111.183996. Epub 2011 Dec 27. Hypertension. 2012. PMID: 22203740
a Novel Y152C KCNJ5 mutation responsible for familial hyperaldosteronism type III.
Monticone S, Hattangady NG, Penton D, Isales CM, Edwards MA, Williams TA, Sterner C, Warth R, Mulatero P, Rainey WE. Monticone S, et al. Among authors: warth r. J Clin Endocrinol Metab. 2013 Nov;98(11):E1861-5. doi: 10.1210/jc.2013-2428. Epub 2013 Sep 13. J Clin Endocrinol Metab. 2013. PMID: 24037882 Free PMC article.
188 results