Karet FE - Search Results

1

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE. Smith AN, et al. Among authors: karet fe. Nat Genet. 2000 Sep;26(1):71-5. doi: 10.1038/79208. Nat Genet. 2000. PMID: 10973252

2

Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.

Devonald MA, Smith AN, Poon JP, Ihrke G, Karet FE. Devonald MA, et al. Among authors: karet fe. Nat Genet. 2003 Feb;33(2):125-7. doi: 10.1038/ng1082. Epub 2003 Jan 21. Nat Genet. 2003. PMID: 12539048

3

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

4

Localization of a gene for autosomal recessive distal renal tubular acidosis with normal hearing (rdRTA2) to 7q33-34.

Karet FE, Finberg KE, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Medina JF, Lifton RP. Karet FE, et al. Am J Hum Genet. 1999 Dec;65(6):1656-65. doi: 10.1086/302679. Am J Hum Genet. 1999. PMID: 10577919 Free PMC article.

5

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.

6

A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis.

Borthwick KJ, Kandemir N, Topaloglu R, Kornak U, Bakkaloglu A, Yordam N, Ozen S, Mocan H, Shah GN, Sly WS, Karet FE. Borthwick KJ, et al. Among authors: karet fe. J Med Genet. 2003 Feb;40(2):115-21. doi: 10.1136/jmg.40.2.115. J Med Genet. 2003. PMID: 12566520 Free PMC article.

7

Molecular cloning and characterization of novel tissue-specific isoforms of the human vacuolar H(+)-ATPase C, G and d subunits, and their evaluation in autosomal recessive distal renal tubular acidosis.

Smith AN, Borthwick KJ, Karet FE. Smith AN, et al. Among authors: karet fe. Gene. 2002 Sep 4;297(1-2):169-77. doi: 10.1016/s0378-1119(02)00884-3. Gene. 2002. PMID: 12384298

8

Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis.

Stehberger PA, Schulz N, Finberg KE, Karet FE, Giebisch G, Lifton RP, Geibel JP, Wagner CA. Stehberger PA, et al. Among authors: karet fe. J Am Soc Nephrol. 2003 Dec;14(12):3027-38. doi: 10.1097/01.asn.0000099375.74789.ab. J Am Soc Nephrol. 2003. PMID: 14638902

9

Molecular cloning and characterization of a novel form of the human vacuolar H+-ATPase e-subunit: an essential proton pump component.

Blake-Palmer KG, Su Y, Smith AN, Karet FE. Blake-Palmer KG, et al. Among authors: karet fe. Gene. 2007 May 15;393(1-2):94-100. doi: 10.1016/j.gene.2007.01.020. Epub 2007 Feb 7. Gene. 2007. PMID: 17350184

10

The d subunit plays a central role in human vacuolar H(+)-ATPases.

Smith AN, Francis RW, Sorrell SL, Karet FE. Smith AN, et al. Among authors: karet fe. J Bioenerg Biomembr. 2008 Aug;40(4):371-80. doi: 10.1007/s10863-008-9161-y. Epub 2008 Aug 28. J Bioenerg Biomembr. 2008. PMID: 18752060 Free PMC article.

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