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Items: 1 to 20 of 101

1.

Molecular Approach for Distal Renal Tubular Acidosis Associated AE1 Mutations.

Vasuvattakul S.

Electrolyte Blood Press. 2010 Jun;8(1):25-31. doi: 10.5049/EBP.2010.8.1.25. Epub 2010 Jun 30.

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Molecular mechanisms of autosomal dominant and recessive distal renal tubular acidosis caused by SLC4A1 (AE1) mutations.

Yenchitsomanus PT, Kittanakom S, Rungroj N, Cordat E, Reithmeier RA.

J Mol Genet Med. 2005 Nov 16;1(2):49-62.

4.

Dominant and recessive distal renal tubular acidosis mutations of kidney anion exchanger 1 induce distinct trafficking defects in MDCK cells.

Cordat E, Kittanakom S, Yenchitsomanus PT, Li J, Du K, Lukacs GL, Reithmeier RA.

Traffic. 2006 Feb;7(2):117-28.

5.

Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).

Kittanakom S, Cordat E, Akkarapatumwong V, Yenchitsomanus PT, Reithmeier RA.

J Biol Chem. 2004 Sep 24;279(39):40960-71. Epub 2004 Jul 13.

6.

Human anion exchanger1 mutations and distal renal tubular acidosis.

Yenchitsomanus PT.

Southeast Asian J Trop Med Public Health. 2003 Sep;34(3):651-8. Review.

PMID:
15115146
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Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis.

Sawasdee N, Udomchaiprasertkul W, Noisakran S, Rungroj N, Akkarapatumwong V, Yenchitsomanus PT.

Biochem Biophys Res Commun. 2006 Nov 24;350(3):723-30. Epub 2006 Oct 2.

PMID:
17027918
10.

Impaired trafficking and intracellular retention of mutant kidney anion exchanger 1 proteins (G701D and A858D) associated with distal renal tubular acidosis.

Ungsupravate D, Sawasdee N, Khositseth S, Udomchaiprasertkul W, Khoprasert S, Li J, Reithmeier RA, Yenchitsomanus PT.

Mol Membr Biol. 2010 Apr;27(2-3):92-103. doi: 10.3109/09687681003588020.

PMID:
20151848
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Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.

Yenchitsomanus PT, Vasuvattakul S, Kirdpon S, Wasanawatana S, Susaengrat W, Sreethiphayawan S, Chuawatana D, Mingkum S, Sawasdee N, Thuwajit P, Wilairat P, Malasit P, Nimmannit S.

Am J Kidney Dis. 2002 Jul;40(1):21-9.

PMID:
12087557
13.

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

Jarolim P, Shayakul C, Prabakaran D, Jiang L, Stuart-Tilley A, Rubin HL, Simova S, Zavadil J, Herrin JT, Brouillette J, Somers MJ, Seemanova E, Brugnara C, Guay-Woodford LM, Alper SL.

J Biol Chem. 1998 Mar 13;273(11):6380-8.

14.

A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.

Rungroj N, Devonald MA, Cuthbert AW, Reimann F, Akkarapatumwong V, Yenchitsomanus PT, Bennett WM, Karet FE.

J Biol Chem. 2004 Apr 2;279(14):13833-8. Epub 2004 Jan 20.

15.

Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis.

Vasuvattakul S, Yenchitsomanus PT, Vachuanichsanong P, Thuwajit P, Kaitwatcharachai C, Laosombat V, Malasit P, Wilairat P, Nimmannit S.

Kidney Int. 1999 Nov;56(5):1674-82.

16.

Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, Veerakul G, Alper SL.

J Clin Invest. 1998 Dec 15;102(12):2173-9.

17.

Band 3 Edmonton I, a novel mutant of the anion exchanger 1 causing spherocytosis and distal renal tubular acidosis.

Chu C, Woods N, Sawasdee N, Guizouarn H, Pellissier B, Borgese F, Yenchitsomanus PT, Gowrishankar M, Cordat E.

Biochem J. 2010 Feb 24;426(3):379-88. doi: 10.1042/BJ20091525.

PMID:
20028337
18.

Impaired trafficking of distal renal tubular acidosis mutants of the human kidney anion exchanger kAE1.

Quilty JA, Li J, Reithmeier RA.

Am J Physiol Renal Physiol. 2002 May;282(5):F810-20.

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