| 1 | DRTAA, SLC4A1
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| Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.
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| Fry AC, Su Y, Yiu V, Cuthbert AW, Trachtman H, Karet Frankl FE.
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| J Am Soc Nephrol 23(7):1238-49. Epub 2012 Apr 19.
2012
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| 2 | DRTAA, SLC4A1
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| A novel SLC4A1 variant in an autosomal dominant distal renal tubular acidosis family with a severe phenotype.
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| Shao L, Xu Y, Dong Q, Lang Y, Yue S, Miao Z.
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| Endocrine 37(3):473-8. Epub 2010 Apr 17.
2010
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| 3 | DRTAA, SLC4A1
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| Cell surface rescue of kidney anion exchanger 1 mutants by disruption of chaperone interactions.
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| Patterson ST, Reithmeier RA.
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| J Biol Chem 285(43):33423-34. Epub 2010 Jul 13.
2010
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| 4 | DRTAA, SLC4A1
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| Trafficking defect of mutant kidney anion exchanger 1 (kAE1) proteins associated with distal renal tubular acidosis and Southeast Asian ovalocytosis.
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| Sawasdee N, Udomchaiprasertkul W, Noisakran S, Rungroj N, Akkarapatumwong V, Yenchitsomanus PT.
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| Biochem Biophys Res Commun 350(3):723-30. Epub 2006 Oct 2.
2006
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| 5 | DRTAA, SLC4A1
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| A novel missense mutation in AE1 causing autosomal dominant distal renal tubular acidosis retains normal transport function but is mistargeted in polarized epithelial cells.
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| Rungroj N, Devonald MA, Cuthbert AW, Reimann F, Akkarapatumwong V, Yenchitsomanus PT, Bennett WM, Karet FE.
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| J Biol Chem 279(14):13833-8. Epub 2004 Jan 20. 2004
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| 6 | SLC4A1, DRTAA
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| Trafficking defects of a novel autosomal recessive distal renal tubular acidosis mutant (S773P) of the human kidney anion exchanger (kAE1).
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| Kittanakom S, Cordat E, Akkarapatumwong V, Yenchitsomanus PT, Reithmeier RA.
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| J Biol Chem 279(39):40960-71. Epub 2004 Jul 13. 2004
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| 7 | DRTAA, SLC4A1
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| Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis
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| Devonald MA, Smith AN, Poon JP, Ihrke G, Karet FE.
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| Nat Genet 33(2):125-7. 2003
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| 8 | DRTAA, SLC4A1
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| Secretory-defect distal renal tubular acidosis is associated with transporter defect in H(+)-ATPase and anion exchanger-1.
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| Han JS, Kim GH, Kim J, Jeon US, Joo KW, Na KY, Ahn C, Kim S, Lee SE, Lee JS.
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| J Am Soc Nephrol 13(6):1425-32. 2002
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| 9 | DRTAA, SLC4A1
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| Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) CI-/HCO3-exchanger.
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| 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.
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| J Biol Chem 273(11):6380-8. 1998
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| 10 | DRTAA, SLC4A1
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| Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.
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| Karet FE, et al.
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| Proc Natl Acad Sci U S A 95 : 6337-6342. 1998
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| 11 | DRTAA, SLC4A1
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| Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.
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| Tanphaichitr VS, Sumboonnanonda A, Ideguchi H, Shayakul C, Brugnara C, Takao M, Veerakul G, Alper SL.
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| J Clin Invest 102 : 2173-2179. 1998
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| 12 | DRTAA, SLC4A1
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| Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.
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| Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ.
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| J Clin Invest 100(7):1693-707. 1997
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