Karet FE - Search Results

1

Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism.

Semple RK, Achermann JC, Ellery J, Farooqi IS, Karet FE, Stanhope RG, O'rahilly S, Aparicio SA. Semple RK, et al. Among authors: karet fe. J Clin Endocrinol Metab. 2005 Mar;90(3):1849-55. doi: 10.1210/jc.2004-1418. Epub 2004 Dec 14. J Clin Endocrinol Metab. 2005. PMID: 15598687 Free article.

2

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.

3

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.

Rungroj N, Devonald MA, Cuthbert AW, Reimann F, Akkarapatumwong V, Yenchitsomanus PT, Bennett WM, Karet FE. Rungroj N, et al. Among authors: karet fe. J Biol Chem. 2004 Apr 2;279(14):13833-8. doi: 10.1074/jbc.M400188200. Epub 2004 Jan 20. J Biol Chem. 2004. PMID: 14734552 Free article.

4

Life-threatening metabolic alkalosis in Pendred syndrome.

Kandasamy N, Fugazzola L, Evans M, Chatterjee K, Karet F. Kandasamy N, et al. Eur J Endocrinol. 2011 Jul;165(1):167-70. doi: 10.1530/EJE-11-0101. Epub 2011 May 6. Eur J Endocrinol. 2011. PMID: 21551164 Free PMC article.

5

Molecular cloning and characterization of Atp6n1b: a novel fourth murine vacuolar H+-ATPase a-subunit gene.

Smith AN, Finberg KE, Wagner CA, Lifton RP, Devonald MA, Su Y, Karet FE. Smith AN, et al. Among authors: karet fe. J Biol Chem. 2001 Nov 9;276(45):42382-8. doi: 10.1074/jbc.M107267200. Epub 2001 Aug 8. J Biol Chem. 2001. PMID: 11495928 Free 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

Salt handling and hypertension.

O'Shaughnessy KM, Karet FE. O'Shaughnessy KM, et al. Among authors: karet fe. J Clin Invest. 2004 Apr;113(8):1075-81. doi: 10.1172/JCI21560. J Clin Invest. 2004. PMID: 15085183 Free PMC article. Review.

8

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.

9

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

10

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

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