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Journal Abstract Search

231 related items for PubMed ID: 12384298

  • 1. 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
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  • 3. 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. PubMed ID: 17350184
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  • 8. 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 15; 39(11):796-803. PubMed ID: 12414817
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  • 9. 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 Nov 15; 33(10):2094-103. PubMed ID: 25517796
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  • 10. 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
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  • 11. 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 Dec 17; 64(1):5-8. PubMed ID: 27140593
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  • 15. Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
    Miura K, Sekine T, Takahashi K, Takita J, Harita Y, Ohki K, Park MJ, Hayashi Y, Tajima A, Ishihara M, Hisano M, Murai M, Igarashi T.
    Nephrol Dial Transplant; 2013 Aug 17; 28(8):2123-30. PubMed ID: 23729491
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  • 16. Ubiquitous and kidney-specific subunits of vacuolar H+-ATPase are differentially expressed during nephrogenesis.
    Jouret F, Auzanneau C, Debaix H, Wada GH, Pretto C, Marbaix E, Karet FE, Courtoy PJ, Devuyst O.
    J Am Soc Nephrol; 2005 Nov 17; 16(11):3235-46. PubMed ID: 16177003
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  • 17. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis.
    Jobst-Schwan T, Klämbt V, Tarsio M, Heneghan JF, Majmundar AJ, Shril S, Buerger F, Ottlewski I, Shmukler BE, Topaloglu R, Hashmi S, Hafeez F, Emma F, Greco M, Laube GF, Fathy HM, Pohl M, Gellermann J, Milosevic D, Baum MA, Mane S, Lifton RP, Kane PM, Alper SL, Hildebrandt F.
    Kidney Int; 2020 Mar 17; 97(3):567-579. PubMed ID: 31959358
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