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Page 1
Inherited Tubulopathies of the Kidney: Insights from Genetics.
Downie ML, Lopez Garcia SC, Kleta R, Bockenhauer D. Downie ML, et al. Among authors: kleta r. Clin J Am Soc Nephrol. 2021 Apr 7;16(4):620-630. doi: 10.2215/CJN.14481119. Epub 2020 Apr 1. Clin J Am Soc Nephrol. 2021. PMID: 32238367 Free PMC article. Review.
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. Nat Genet. 2004 Sep;36(9):999-1002. doi: 10.1038/ng1405. Epub 2004 Aug 1. Nat Genet. 2004. PMID: 15286787
Familial membranous nephropathy: an X-linked genetic susceptibility?
Bockenhauer D, Debiec H, Sebire N, Barratt M, Warwicker P, Ronco P, Kleta R. Bockenhauer D, et al. Among authors: kleta r. Nephron Clin Pract. 2008;108(1):c10-5. doi: 10.1159/000112466. Epub 2007 Dec 13. Nephron Clin Pract. 2008. PMID: 18075275
Aminoacidurias: Clinical and molecular aspects.
Camargo SM, Bockenhauer D, Kleta R. Camargo SM, et al. Among authors: kleta r. Kidney Int. 2008 Apr;73(8):918-25. doi: 10.1038/sj.ki.5002790. Epub 2008 Jan 16. Kidney Int. 2008. PMID: 18200002 Free article. Review.
Antenatal Bartter's syndrome: why is this not a lethal condition?
Bockenhauer D, Cruwys M, Kleta R, Halperin LF, Wildgoose P, Souma T, Nukiwa N, Cheema-Dhadli S, Chong CK, Kamel KS, Davids MR, Halperin ML. Bockenhauer D, et al. Among authors: kleta r. QJM. 2008 Dec;101(12):927-42. doi: 10.1093/qjmed/hcn119. Epub 2008 Oct 1. QJM. 2008. PMID: 18829713
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: kleta 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: kleta 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.
196 results