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Page 1
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M. Schlingmann KP, et al. Among authors: warth r. J Am Soc Nephrol. 2021 Jun 1;32(6):1498-1512. doi: 10.1681/ASN.2020111587. Epub 2021 Apr 2. J Am Soc Nephrol. 2021. PMID: 33811157 Free PMC article.
Role of KCNE1-dependent K+ fluxes in mouse proximal tubule.
Vallon V, Grahammer F, Richter K, Bleich M, Lang F, Barhanin J, Völkl H, Warth R. Vallon V, et al. Among authors: warth r. J Am Soc Nephrol. 2001 Oct;12(10):2003-2011. doi: 10.1681/ASN.V12102003. J Am Soc Nephrol. 2001. PMID: 11562398
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder.
Kleta R, Romeo E, Ristic Z, Ohura T, Stuart C, Arcos-Burgos M, Dave MH, Wagner CA, Camargo SR, Inoue S, Matsuura N, Helip-Wooley A, Bockenhauer D, Warth R, Bernardini I, Visser G, Eggermann T, Lee P, Chairoungdua A, Jutabha P, Babu E, Nilwarangkoon S, Anzai N, Kanai Y, Verrey F, Gahl WA, Koizumi A. Kleta R, et al. Among authors: warth r. Nat Genet. 2004 Sep;36(9):999-1002. doi: 10.1038/ng1405. Epub 2004 Aug 1. Nat Genet. 2004. PMID: 15286787
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.
Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.
Thompson DA, Feather S, Stanescu HC, Freudenthal B, Zdebik AA, Warth R, Ognjanovic M, Hulton SA, Wassmer E, van't Hoff W, Russell-Eggitt I, Dobbie A, Sheridan E, Kleta R, Bockenhauer D. Thompson DA, et al. Among authors: warth r. J Physiol. 2011 Apr 1;589(Pt 7):1681-9. doi: 10.1113/jphysiol.2010.198531. Epub 2011 Feb 7. J Physiol. 2011. PMID: 21300747 Free PMC article.
Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
Klootwijk ED, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R. Klootwijk ED, et al. Among authors: warth r. N Engl J Med. 2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581. N Engl J Med. 2014. PMID: 24401050 Free article.
Renal Fanconi syndrome: taking a proximal look at the nephron.
Klootwijk ED, Reichold M, Unwin RJ, Kleta R, Warth R, Bockenhauer D. Klootwijk ED, et al. Among authors: warth r. Nephrol Dial Transplant. 2015 Sep;30(9):1456-60. doi: 10.1093/ndt/gfu377. Epub 2014 Dec 9. Nephrol Dial Transplant. 2015. PMID: 25492894 Review.
192 results