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Items: 1 to 20 of 147

1.

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
2.

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
3.

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
4.

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.

Ruf R, Rensing C, Topaloglu R, Guay-Woodford L, Klein C, Vollmer M, Otto E, Beekmann F, Haller M, Wiedensohler A, Leumann E, Antignac C, Rizzoni G, Filler G, Brandis M, Weber JL, Hildebrandt F.

Pediatr Nephrol. 2003 Feb;18(2):105-9.

PMID:
12579397
5.

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.

6.
7.

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A.

J Am Soc Nephrol. 2006 May;17(5):1437-43.

8.

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
9.

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.

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.

13.

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.

J Am Soc Nephrol. 2003 Dec;14(12):3027-38.

14.

Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes.

Carboni I, Andreucci E, Caruso MR, Ciccone R, Zuffardi O, Genuardi M, Pela I, Giglio S.

Nephrol Dial Transplant. 2009 Sep;24(9):2734-8. doi: 10.1093/ndt/gfp160.

PMID:
19364879
15.

Inherited renal tubular acidosis.

Shayakul C, Alper SL.

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

PMID:
10990375
17.

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.

Am J Hum Genet. 1999 Dec;65(6):1656-65.

19.

[Renal tubular acidosis and deafness due to mutation in the gene encoding the B1 subunit of H+ATPase].

Bagnis C.

Nephrologie. 1999;20(7):389-90. French. No abstract available.

PMID:
10671147
20.

[Primary distal renal tubular acidosis].

Bouzidi H, Daudon M, Najjar MF.

Ann Biol Clin (Paris). 2009 Mar-Apr;67(2):135-40. doi: 10.1684/abc.2009.0307. Review. French.

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