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Journal Abstract Search

246 related items for PubMed ID: 31040187

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  • 2. A novel mutant Na+ /HCO3- cotransporter NBCe1 in a case of compound-heterozygous inheritance of proximal renal tubular acidosis.
    Myers EJ, Yuan L, Felmlee MA, Lin YY, Jiang Y, Pei Y, Wang O, Li M, Xing XP, Marshall A, Xia WB, Parker MD.
    J Physiol; 2016 Nov 01; 594(21):6267-6286. PubMed ID: 27338124
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  • 3. The human NBCe1-A mutant R881C, associated with proximal renal tubular acidosis, retains function but is mistargeted in polarized renal epithelia.
    Toye AM, Parker MD, Daly CM, Lu J, Virkki LV, Pelletier MF, Boron WF.
    Am J Physiol Cell Physiol; 2006 Oct 01; 291(4):C788-801. PubMed ID: 16707554
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  • 7. Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).
    Demirci FY, Chang MH, Mah TS, Romero MF, Gorin MB.
    Mol Vis; 2006 Apr 10; 12():324-30. PubMed ID: 16636648
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  • 9. Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.
    Lo YF, Yang SS, Seki G, Yamada H, Horita S, Yamazaki O, Fujita T, Usui T, Tsai JD, Yu IS, Lin SW, Lin SH.
    Kidney Int; 2011 Apr 10; 79(7):730-41. PubMed ID: 21228764
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  • 11. The sodium bicarbonate cotransporter (NBCe1) is essential for normal development of mouse dentition.
    Lacruz RS, Nanci A, White SN, Wen X, Wang H, Zalzal SF, Luong VQ, Schuetter VL, Conti PS, Kurtz I, Paine ML.
    J Biol Chem; 2010 Aug 06; 285(32):24432-8. PubMed ID: 20529845
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  • 12. Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis.
    Igarashi T, Sekine T, Inatomi J, Seki G.
    J Am Soc Nephrol; 2002 Aug 06; 13(8):2171-7. PubMed ID: 12138151
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  • 14. G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.
    Azimov R, Abuladze N, Sassani P, Newman D, Kao L, Liu W, Orozco N, Ruchala P, Pushkin A, Kurtz I.
    Am J Physiol Renal Physiol; 2008 Sep 06; 295(3):F633-41. PubMed ID: 18614622
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  • 15. SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report.
    Horita S, Simsek E, Simsek T, Yildirim N, Ishiura H, Nakamura M, Satoh N, Suzuki A, Tsukada H, Mizuno T, Seki G, Tsuji S, Nangaku M.
    BMC Med Genet; 2018 Jun 18; 19(1):103. PubMed ID: 29914390
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  • 16. Topological location and structural importance of the NBCe1-A residues mutated in proximal renal tubular acidosis.
    Zhu Q, Kao L, Azimov R, Newman D, Liu W, Pushkin A, Abuladze N, Kurtz I.
    J Biol Chem; 2010 Apr 30; 285(18):13416-26. PubMed ID: 20197274
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  • 17. [Physiology and pathophysiology of Na⁺/HCO₃⁻ cotransporter NBCe1].
    Liu Y, Lu QW, Chen LM.
    Sheng Li Xue Bao; 2012 Dec 25; 64(6):729-40. PubMed ID: 23258339
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  • 19. Expression of the B splice variant of NBCe1 (SLC4A4) in the mouse kidney.
    Fang L, Lee HW, Chen C, Harris AN, Romero MF, Verlander JW, Weiner ID.
    Am J Physiol Renal Physiol; 2018 Sep 01; 315(3):F417-F428. PubMed ID: 29631353
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  • 20. Molecular mechanisms of renal and extrarenal manifestations caused by inactivation of the electrogenic Na(+)-HCO3 (-) cotransporter NBCe1.
    Seki G, Horita S, Suzuki M, Yamazaki O, Usui T, Nakamura M, Yamada H.
    Front Physiol; 2013 Oct 01; 4():270. PubMed ID: 24101904
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