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Items: 1 to 20 of 105

1.

Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.

Norgett EE, Golder ZJ, Lorente-Cánovas B, Ingham N, Steel KP, Karet Frankl FE.

Proc Natl Acad Sci U S A. 2012 Aug 21;109(34):13775-80. doi: 10.1073/pnas.1204257109. Epub 2012 Aug 7.

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.

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

3.

Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.

Lorente-Cánovas B, Ingham N, Norgett EE, Golder ZJ, Karet Frankl FE, Steel KP.

Dis Model Mech. 2013 Mar;6(2):434-42. doi: 10.1242/dmm.010645. Epub 2012 Oct 12.

4.

Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.

Saito T, Hayashi D, Shibata S, Jogamoto M, Kamoda T.

Eur J Pediatr. 2010 Oct;169(10):1271-3. doi: 10.1007/s00431-010-1184-9. Epub 2010 Mar 11.

PMID:
20221774
5.

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. Epub 2006 Apr 12.

6.

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.

7.

Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.

Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, Wüthrich RP, Wagner CA.

Clin Genet. 2013 Mar;83(3):274-8. doi: 10.1111/j.1399-0004.2012.01891.x. Epub 2012 May 11.

PMID:
22509993
8.

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. Epub 2002 Dec 18.

PMID:
12579397
9.

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.

Norgett EE, Yii A, Blake-Palmer KG, Sharifian M, Allen LE, Najafi A, Kariminejad A, Karet Frankl FE.

BMC Med Genet. 2015 Jun 13;16:38. doi: 10.1186/s12881-015-0182-1.

10.

Familial renal tubular acidosis.

Alper SL.

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

PMID:
21170890
11.

[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.

12.

Genetic causes and mechanisms of distal renal tubular acidosis.

Batlle D, Haque SK.

Nephrol Dial Transplant. 2012 Oct;27(10):3691-704. doi: 10.1093/ndt/gfs442. Review.

PMID:
23114896
13.

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
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. Epub 2009 Apr 13.

PMID:
19364879
15.

Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.

Elhayek D, Perez de Nanclares G, Chouchane S, Hamami S, Mlika A, Troudi M, Leban N, Ben Romdane W, Gueddiche MN, El Amri F, Mrabet S, Ben Chibani J, Castaño L, Haj Khelil A, Ariceta G.

BMC Med Genet. 2013 Nov 20;14:119. doi: 10.1186/1471-2350-14-119.

16.

Inner ear abnormalities in four patients with dRTA and SNHL: clinical and genetic heterogeneity.

Andreucci E, Bianchi B, Carboni I, Lavoratti G, Mortilla M, Fonda C, Bigozzi M, Genuardi M, Giglio S, Pela I.

Pediatr Nephrol. 2009 Nov;24(11):2147-53. doi: 10.1007/s00467-009-1261-3. Epub 2009 Jul 29.

PMID:
19639346
17.

Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.

El Hayek D, Bouzidi H, Pérez de Nanclares G, Soua H, Chibani JB, Ariceta G, Castaño L, Khelil AH.

Clin Nephrol. 2014 Feb;81(2):142-5. doi: 10.5414/CN107505.

PMID:
22854161
18.

A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule.

Hennings JC, Picard N, Huebner AK, Stauber T, Maier H, Brown D, Jentsch TJ, Vargas-Poussou R, Eladari D, Hübner CA.

EMBO Mol Med. 2012 Oct;4(10):1057-71. doi: 10.1002/emmm.201201527. Epub 2012 Aug 30.

19.

Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.

Kose E, Sirin Kose S, Alparslan C, Kasap Demir B, Berdeli A, Mutlubas Ozsan F, Yavascan O, Aksu N.

Ren Fail. 2014 Jun;36(5):808-10. doi: 10.3109/0886022X.2014.890055. Epub 2014 Feb 24.

PMID:
24564331
20.

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