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Journal Abstract Search
200 related items for PubMed ID: 15930088
1. Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. Horita S, Yamada H, Inatomi J, Moriyama N, Sekine T, Igarashi T, Endo Y, Dasouki M, Ekim M, Al-Gazali L, Shimadzu M, Seki G, Fujita T. J Am Soc Nephrol; 2005 Aug; 16(8):2270-8. PubMed ID: 15930088 [Abstract] [Full Text] [Related]
2. Missense mutations in Na+:HCO3- cotransporter NBC1 show abnormal trafficking in polarized kidney cells: a basis of proximal renal tubular acidosis. Li HC, Szigligeti P, Worrell RT, Matthews JB, Conforti L, Soleimani M. Am J Physiol Renal Physiol; 2005 Jul; 289(1):F61-71. PubMed ID: 15713912 [Abstract] [Full Text] [Related]
3. Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis. Suzuki M, Vaisbich MH, Yamada H, Horita S, Li Y, Sekine T, Moriyama N, Igarashi T, Endo Y, Cardoso TP, de Sá LC, Koch VH, Seki G, Fujita T. Pflugers Arch; 2008 Jan; 455(4):583-93. PubMed ID: 17661077 [Abstract] [Full Text] [Related]
4. 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 [Abstract] [Full Text] [Related]
5. 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 [Abstract] [Full Text] [Related]
6. 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 10; 291(4):C788-801. PubMed ID: 16707554 [Abstract] [Full Text] [Related]
7. 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 [Abstract] [Full Text] [Related]
8. Missense mutation T485S alters NBCe1-A electrogenicity causing proximal renal tubular acidosis. Zhu Q, Shao XM, Kao L, Azimov R, Weinstein AM, Newman D, Liu W, Kurtz I. Am J Physiol Cell Physiol; 2013 Aug 15; 305(4):C392-405. PubMed ID: 23636456 [Abstract] [Full Text] [Related]
9. Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities. Igarashi T, Inatomi J, Sekine T, Cha SH, Kanai Y, Kunimi M, Tsukamoto K, Satoh H, Shimadzu M, Tozawa F, Mori T, Shiobara M, Seki G, Endou H. Nat Genet; 1999 Nov 15; 23(3):264-6. PubMed ID: 10545938 [No Abstract] [Full Text] [Related]
10. Mutational and functional analysis of SLC4A4 in a patient with proximal renal tubular acidosis. Inatomi J, Horita S, Braverman N, Sekine T, Yamada H, Suzuki Y, Kawahara K, Moriyama N, Kudo A, Kawakami H, Shimadzu M, Endou H, Fujita T, Seki G, Igarashi T. Pflugers Arch; 2004 Jul 15; 448(4):438-44. PubMed ID: 15085340 [Abstract] [Full Text] [Related]
11. Familial pure proximal renal tubular acidosis--a clinical and genetic study. Katzir Z, Dinour D, Reznik-Wolf H, Nissenkorn A, Holtzman E. Nephrol Dial Transplant; 2008 Apr 15; 23(4):1211-5. PubMed ID: 17881426 [Abstract] [Full Text] [Related]
12. A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects. Dinour D, Chang MH, Satoh J, Smith BL, Angle N, Knecht A, Serban I, Holtzman EJ, Romero MF. J Biol Chem; 2004 Dec 10; 279(50):52238-46. PubMed ID: 15471865 [Abstract] [Full Text] [Related]