These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 12500243)

  • 1. 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. PubMed ID: 12500243
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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. PubMed ID: 9916796
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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. PubMed ID: 25579729
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hereditary distal renal tubular acidosis: new understandings.
    Batlle D; Ghanekar H; Jain S; Mitra A
    Annu Rev Med; 2001; 52():471-84. PubMed ID: 11160790
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 12579397
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells.
    Yang Q; Li G; Singh SK; Alexander EA; Schwartz JH
    J Am Soc Nephrol; 2006 Jul; 17(7):1858-66. PubMed ID: 16769747
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 10973252
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Familial renal tubular acidosis.
    Alper SL
    J Nephrol; 2010; 23 Suppl 16():S57-76. PubMed ID: 21170890
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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. PubMed ID: 19478356
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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. PubMed ID: 12414817
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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. PubMed ID: 24564331
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in exons 3 and 7 resulting in truncated expression of human ATP6V1B1 gene showing structural variations contributing to poor substrate binding-causative reason for distal renal tubular acidosis with sensorineural deafness.
    Kumar PS; Venkatesh K; Sowjenya G; Srikanth L; Sunitha MM; Prasad UV; Swarupa V; Yeswanth S; Naveen PS; Sridhar A; Kumar VS; Sarma PV
    J Biomol Struct Dyn; 2015; 33(10):2094-103. PubMed ID: 25517796
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Primary distal renal tubular acidosis].
    Bouzidi H; Daudon M; Najjar MF
    Ann Biol Clin (Paris); 2009; 67(2):135-40. PubMed ID: 19297287
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and molecular findings in three Moroccan families with distal renal tubular acidosis and deafness: Report of a novel mutation of ATP6V1B1 gene.
    Boualla L; Jdioui W; Soulami K; Ratbi I; Sefiani A
    Curr Res Transl Med; 2016; 64(1):5-8. PubMed ID: 27140593
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 19364879
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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. PubMed ID: 18368028
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 393(1-2):94-100. PubMed ID: 17350184
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Molecular investigation and long-term clinical progress in Greek Cypriot families with recessive distal renal tubular acidosis and sensorineural deafness due to mutations in the ATP6V1B1 gene.
    Feldman M; Prikis M; Athanasiou Y; Elia A; Pierides A; Deltas CC
    Clin Genet; 2006 Feb; 69(2):135-44. PubMed ID: 16433694
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and molecular aspects of distal renal tubular acidosis in children.
    Besouw MTP; Bienias M; Walsh P; Kleta R; Van't Hoff WG; Ashton E; Jenkins L; Bockenhauer D
    Pediatr Nephrol; 2017 Jun; 32(6):987-996. PubMed ID: 28188436
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 16611712
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.