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Journal Abstract Search

533 related items for PubMed ID: 10973252

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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.
    J Biol Chem; 2001 Nov 09; 276(45):42382-8. PubMed ID: 11495928
    [Abstract] [Full Text] [Related]

  • 3. 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 09; 65(6):1656-65. PubMed ID: 10577919
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  • 4. Hereditary distal renal tubular acidosis: new understandings.
    Batlle D, Ghanekar H, Jain S, Mitra A.
    Annu Rev Med; 2001 Dec 09; 52():471-84. PubMed ID: 11160790
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  • 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 09; 18(2):105-9. PubMed ID: 12579397
    [Abstract] [Full Text] [Related]

  • 6. 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 09; 41(1):238-43. PubMed ID: 12500243
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  • 7. 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 09; 39(11):796-803. PubMed ID: 12414817
    [Abstract] [Full Text] [Related]

  • 8. 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.
    Gene; 2002 Sep 04; 297(1-2):169-77. PubMed ID: 12384298
    [Abstract] [Full Text] [Related]

  • 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 04; 40(2):115-21. PubMed ID: 12566520
    [Abstract] [Full Text] [Related]

  • 10. 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 04; 21(1):84-90. PubMed ID: 9916796
    [Abstract] [Full Text] [Related]

  • 11. 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 04; 14(12):3027-38. PubMed ID: 14638902
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  • 13. 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 Dec 04; 33(10):2094-103. PubMed ID: 25517796
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  • 16. 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 04; 17(7):1858-66. PubMed ID: 16769747
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  • 18. Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report.
    Zhao X, Lu J, Gao Y, Wang X, Lang Y, Shao L.
    BMC Nephrol; 2018 Dec 17; 19(1):364. PubMed ID: 30558562
    [Abstract] [Full Text] [Related]

  • 19. 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 17; 69(2):135-44. PubMed ID: 16433694
    [Abstract] [Full Text] [Related]

  • 20. Preservation of intercalated cell H(+)-ATPase in two patients with lupus nephritis and hyperkalemic distal renal tubular acidosis.
    Bastani B, Underhill D, Chu N, Nelson RD, Haragsim L, Gluck S.
    J Am Soc Nephrol; 1997 Jul 17; 8(7):1109-17. PubMed ID: 9219160
    [Abstract] [Full Text] [Related]

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