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Items: 1 to 20 of 218

2.

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. Epub 2004 Oct 7.

3.

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;448(4):438-44. Epub 2004 Apr 14.

PMID:
15085340
4.

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;291(4):C788-801. Epub 2006 May 17.

5.

Novel nonsense mutation in the Na+/HCO3- cotransporter gene (SLC4A4) in a patient with permanent isolated proximal renal tubular acidosis and bilateral glaucoma.

Igarashi T, Inatomi J, Sekine T, Seki G, Shimadzu M, Tozawa F, Takeshima Y, Takumi T, Takahashi T, Yoshikawa N, Nakamura H, Endou H.

J Am Soc Nephrol. 2001 Apr;12(4):713-8.

6.

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. Epub 2007 Jul 28.

PMID:
17661077
7.

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. doi: 10.1152/ajpcell.00044.2013. Epub 2013 May 1.

8.

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. Epub 2005 Jun 1.

9.

Identification of dominant negative effect of L522P mutation in the electrogenic Na⁺-HCO₃⁻ cotransporter NBCe1.

Yamazaki O, Yamada H, Suzuki M, Horita S, Shirai A, Nakamura M, Satoh N, Fujita T, Seki G.

Pflugers Arch. 2013 Sep;465(9):1281-91. doi: 10.1007/s00424-013-1277-1. Epub 2013 Apr 5.

PMID:
23559100
10.

HCO(3)(-)-independent conductance with a mutant Na(+)/HCO(3)(-) cotransporter (SLC4A4) in a case of proximal renal tubular acidosis with hypokalaemic paralysis.

Parker MD, Qin X, Williamson RC, Toye AM, Boron WF.

J Physiol. 2012 Apr 15;590(8):2009-34. doi: 10.1113/jphysiol.2011.224733. Epub 2012 Feb 13.

11.

Functional role of a putative carbonic anhydrase II-binding domain in the electrogenic Na+ -HCO₃- cotransporter NBCe1 expressed in Xenopus oocytes.

Yamada H, Horita S, Suzuki M, Fujita T, Seki G.

Channels (Austin). 2011 Mar-Apr;5(2):106-9. Epub 2011 Mar 1.

PMID:
21224720
12.

Cloning, localization, and functional expression of the electrogenic Na+ bicarbonate cotransporter (NBCe1) from zebrafish.

Sussman CR, Zhao J, Plata C, Lu J, Daly C, Angle N, DiPiero J, Drummond IA, Liang JO, Boron WF, Romero MF, Chang MH.

Am J Physiol Cell Physiol. 2009 Oct;297(4):C865-75. doi: 10.1152/ajpcell.00679.2008. Epub 2009 Jul 22.

13.

Defective membrane expression of the Na(+)-HCO(3)(-) cotransporter NBCe1 is associated with familial migraine.

Suzuki M, Van Paesschen W, Stalmans I, Horita S, Yamada H, Bergmans BA, Legius E, Riant F, De Jonghe P, Li Y, Sekine T, Igarashi T, Fujimoto I, Mikoshiba K, Shimadzu M, Shiohara M, Braverman N, Al-Gazali L, Fujita T, Seki G.

Proc Natl Acad Sci U S A. 2010 Sep 7;107(36):15963-8. doi: 10.1073/pnas.1008705107. Epub 2010 Aug 23.

14.

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 Jun 24. doi: 10.1113/JP272252. [Epub ahead of print]

PMID:
27338124
15.

[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. Review. Chinese.

16.

Structure, function, and regulation of the SLC4 NBCe1 transporter and its role in causing proximal renal tubular acidosis.

Kurtz I, Zhu Q.

Curr Opin Nephrol Hypertens. 2013 Sep;22(5):572-83. doi: 10.1097/MNH.0b013e328363ff43. Review.

17.

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;295(3):F633-41. doi: 10.1152/ajprenal.00015.2008. Epub 2008 Jul 9.

18.

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. Epub 2005 Feb 15.

19.

Unraveling the molecular pathogenesis of isolated proximal renal tubular acidosis.

Igarashi T, Sekine T, Inatomi J, Seki G.

J Am Soc Nephrol. 2002 Aug;13(8):2171-7. Review.

20.

Carbonic anhydrase II increases the activity of the human electrogenic Na+/HCO3- cotransporter.

Becker HM, Deitmer JW.

J Biol Chem. 2007 May 4;282(18):13508-21. Epub 2007 Mar 12.

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