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Items: 1 to 20 of 150

1.

The vacuolar-ATPase B1 subunit in distal tubular acidosis: novel mutations and mechanisms for dysfunction.

Fuster DG, Zhang J, Xie XS, Moe OW.

Kidney Int. 2008 May;73(10):1151-8. doi: 10.1038/ki.2008.96. Epub 2008 Mar 26.

PMID:
18368028
2.
3.

Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity.

Ochotny N, Van Vliet A, Chan N, Yao Y, Morel M, Kartner N, von Schroeder HP, Heersche JN, Manolson MF.

J Biol Chem. 2006 Sep 8;281(36):26102-11. Epub 2006 Jul 13.

5.

ATP6B1 gene mutations associated with distal renal tubular acidosis and deafness in a child.

Hahn H, Kang HG, Ha IS, Cheong HI, Choi Y.

Am J Kidney Dis. 2003 Jan;41(1):238-43.

PMID:
12500243
6.

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.

Nat Genet. 2000 Sep;26(1):71-5.

PMID:
10973252
7.

Genetic studies in a family with distal renal tubular acidosis and sensorineural deafness.

Sethi SK, Singh N, Gil H, Bagga A.

Indian Pediatr. 2009 May;46(5):425-7.

8.

Incomplete distal renal tubular acidosis from a heterozygous mutation of the V-ATPase B1 subunit.

Zhang J, Fuster DG, Cameron MA, QuiƱones H, Griffith C, Xie XS, Moe OW.

Am J Physiol Renal Physiol. 2014 Nov 1;307(9):F1063-71. doi: 10.1152/ajprenal.00408.2014. Epub 2014 Aug 27.

9.

Familial renal tubular acidosis.

Alper SL.

J Nephrol. 2010 Nov-Dec;23 Suppl 16:S57-76. Review.

PMID:
21170890
10.

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.

J Med Genet. 2003 Feb;40(2):115-21.

11.

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.

J Med Genet. 2002 Nov;39(11):796-803.

12.

Inherited renal tubular acidosis.

Shayakul C, Alper SL.

Curr Opin Nephrol Hypertens. 2000 Sep;9(5):541-6. Review.

PMID:
10990375
13.

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.

Nat Genet. 1999 Jan;21(1):84-90.

PMID:
9916796
14.

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.

Gene. 2007 May 15;393(1-2):94-100. Epub 2007 Feb 7.

PMID:
17350184
15.

Human H+ATPase a4 subunit mutations causing renal tubular acidosis reveal a role for interaction with phosphofructokinase-1.

Su Y, Blake-Palmer KG, Sorrell S, Javid B, Bowers K, Zhou A, Chang SH, Qamar S, Karet FE.

Am J Physiol Renal Physiol. 2008 Oct;295(4):F950-8. doi: 10.1152/ajprenal.90258.2008. Epub 2008 Jul 16.

16.

The B1-subunit of the H(+) ATPase is required for maximal urinary acidification.

Finberg KE, Wagner CA, Bailey MA, Paunescu TG, Breton S, Brown D, Giebisch G, Geibel JP, Lifton RP.

Proc Natl Acad Sci U S A. 2005 Sep 20;102(38):13616-21. Epub 2005 Sep 8.

17.

Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+ -ATPase B1-subunit.

Finberg KE, Wagner CA, Stehberger PA, Geibel JP, Lifton RP.

Gene. 2003 Oct 30;318:25-34.

PMID:
14585495
18.

Mice lacking the B1 subunit of H+ -ATPase have normal hearing.

Dou H, Finberg K, Cardell EL, Lifton R, Choo D.

Hear Res. 2003 Jun;180(1-2):76-84.

PMID:
12782355
19.

Identification of a domain in the V0 subunit d that is critical for coupling of the yeast vacuolar proton-translocating ATPase.

Owegi MA, Pappas DL, Finch MW Jr, Bilbo SA, Resendiz CA, Jacquemin LJ, Warrier A, Trombley JD, McCulloch KM, Margalef KL, Mertz MJ, Storms JM, Damin CA, Parra KJ.

J Biol Chem. 2006 Oct 6;281(40):30001-14. Epub 2006 Aug 4.

20.

Distal renal tubular acidosis with nerve deafness secondary to ATP6B1 gene mutation.

Naveen PS, Srikanth L, Venkatesh K, Sarma PV, Sridhar N, Krishnakishore C, Sandeep Y, Manjusha Y, Sivakumar V.

Saudi J Kidney Dis Transpl. 2015 Jan;26(1):119-21.

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