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Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Stover EH, Borthwick KJ, Bavalia C, Eady N, Fritz DM, Rungroj N, Giersch AB, Morton CC, Axon PR, Akil I, Al-Sabban EA, Baguley DM, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont MJ, Guala A, Hulton SA, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad SA, Tasic V, Taylor CM, Topaloglu R, Smith AN, Karet FE. Stover EH, et al. Among authors: karet fe. J Med Genet. 2002 Nov;39(11):796-803. doi: 10.1136/jmg.39.11.796. J Med Genet. 2002. PMID: 12414817 Free PMC article.
Inherited disorders of the H+-ATPase.
Borthwick KJ, Karet FE. Borthwick KJ, et al. Among authors: karet fe. Curr Opin Nephrol Hypertens. 2002 Sep;11(5):563-8. doi: 10.1097/00041552-200209000-00013. Curr Opin Nephrol Hypertens. 2002. PMID: 12187322 Review.
Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.
Karet FE, Gainza FJ, Györy AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, Lifton RP. Karet FE, et al. Proc Natl Acad Sci U S A. 1998 May 26;95(11):6337-42. doi: 10.1073/pnas.95.11.6337. Proc Natl Acad Sci U S A. 1998. PMID: 9600966 Free PMC article.
Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.
Karet FE, Finberg KE, Nelson RD, Nayir A, Mocan H, Sanjad SA, Rodriguez-Soriano J, Santos F, Cremers CW, Di Pietro A, Hoffbrand BI, Winiarski J, Bakkaloglu A, Ozen S, Dusunsel R, Goodyer P, Hulton SA, Wu DK, Skvorak AB, Morton CC, Cunningham MJ, Jha V, Lifton RP. Karet FE, et al. Nat Genet. 1999 Jan;21(1):84-90. doi: 10.1038/5022. Nat Genet. 1999. PMID: 9916796
67 results