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Journal Abstract Search


246 related items for PubMed ID: 14654610

  • 21. Novel compound heterozygous SLC4A1 mutations in Thai patients with autosomal recessive distal renal tubular acidosis.
    Sritippayawan S, Sumboonnanonda A, Vasuvattakul S, Keskanokwong T, Sawasdee N, Paemanee A, Thuwajit P, Wilairat P, Nimmannit S, Malasit P, Yenchitsomanus PT.
    Am J Kidney Dis; 2004 Jul; 44(1):64-70. PubMed ID: 15211439
    [Abstract] [Full Text] [Related]

  • 22. Non-polarized targeting of AE1 causes autosomal dominant distal renal tubular acidosis.
    Devonald MA, Smith AN, Poon JP, Ihrke G, Karet FE.
    Nat Genet; 2003 Feb; 33(2):125-7. PubMed ID: 12539048
    [Abstract] [Full Text] [Related]

  • 23. Dominant-negative effect of Southeast Asian ovalocytosis anion exchanger 1 in compound heterozygous distal renal tubular acidosis.
    Kittanakom S, Cordat E, Reithmeier RA.
    Biochem J; 2008 Mar 01; 410(2):271-81. PubMed ID: 17941824
    [Abstract] [Full Text] [Related]

  • 24. Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells.
    Cordat E, Reithmeier RA.
    Am J Physiol Renal Physiol; 2006 Dec 01; 291(6):F1354-61. PubMed ID: 16849697
    [Abstract] [Full Text] [Related]

  • 25. Mutation conferring apical-targeting motif on AE1 exchanger causes autosomal dominant distal RTA.
    Fry AC, Su Y, Yiu V, Cuthbert AW, Trachtman H, Karet Frankl FE.
    J Am Soc Nephrol; 2012 Jul 01; 23(7):1238-49. PubMed ID: 22518001
    [Abstract] [Full Text] [Related]

  • 26. Identification of two novel mutations in the SLC4A1 gene in two unrelated Chinese families with distal renal tubular acidosis.
    Zhang Z, Liu KX, He JW, Fu WZ, Yue H, Zhang H, Zhang CQ, Zhang ZL.
    Arch Med Res; 2012 May 01; 43(4):298-304. PubMed ID: 22609520
    [Abstract] [Full Text] [Related]

  • 27. Hemolytic anemia and distal renal tubular acidosis in two Indian patients homozygous for SLC4A1/AE1 mutation A858D.
    Shmukler BE, Kedar PS, Warang P, Desai M, Madkaikar M, Ghosh K, Colah RB, Alper SL.
    Am J Hematol; 2010 Oct 01; 85(10):824-8. PubMed ID: 20799361
    [Abstract] [Full Text] [Related]

  • 28. Pathophysiology, diagnosis and treatment of inherited distal renal tubular acidosis.
    Mohebbi N, Wagner CA.
    J Nephrol; 2018 Aug 01; 31(4):511-522. PubMed ID: 28994037
    [Abstract] [Full Text] [Related]

  • 29. A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis.
    Sritippayawan S, Kirdpon S, Vasuvattakul S, Wasanawatana S, Susaengrat W, Waiyawuth W, Nimmannit S, Malasit P, Yenchitsomanus PT.
    Pediatr Nephrol; 2003 Jul 01; 18(7):644-8. PubMed ID: 12750988
    [Abstract] [Full Text] [Related]

  • 30. Distal renal tubular acidosis in Filipino children, caused by mutations of the anion-exchanger SLC4A1 (AE1, Band 3) gene.
    Anacleto FE, Bruce LJ, Clayton P, Hegde S, Resontoc LP, Wrong O.
    Nephron Physiol; 2010 Jul 01; 114(2):p19-24. PubMed ID: 20068363
    [Abstract] [Full Text] [Related]

  • 31. Impaired trafficking of human kidney anion exchanger (kAE1) caused by hetero-oligomer formation with a truncated mutant associated with distal renal tubular acidosis.
    Quilty JA, Cordat E, Reithmeier RA.
    Biochem J; 2002 Dec 15; 368(Pt 3):895-903. PubMed ID: 12227829
    [Abstract] [Full Text] [Related]

  • 32. Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene.
    Rysavá R, Tesar V, Jirsa M, Brabec V, Jarolím P.
    Nephrol Dial Transplant; 1997 Sep 15; 12(9):1869-73. PubMed ID: 9306337
    [Abstract] [Full Text] [Related]

  • 33. Southeast Asian AE1 associated renal tubular acidosis: cation leak is a class effect.
    Walsh S, Borgese F, Gabillat N, Guizouarn H.
    Biochem Biophys Res Commun; 2009 May 15; 382(4):668-72. PubMed ID: 19289107
    [Abstract] [Full Text] [Related]

  • 34. 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 15; 56(5):1674-82. PubMed ID: 10571775
    [Abstract] [Full Text] [Related]

  • 35. Atypical distal renal tubular acidosis confirmed by mutation analysis.
    Weber S, Soergel M, Jeck N, Konrad M.
    Pediatr Nephrol; 2000 Dec 15; 15(3-4):201-4. PubMed ID: 11149111
    [Abstract] [Full Text] [Related]

  • 36. Familial renal tubular acidosis.
    Alper SL.
    J Nephrol; 2010 Dec 15; 23 Suppl 16():S57-76. PubMed ID: 21170890
    [Abstract] [Full Text] [Related]

  • 37. Hereditary distal renal tubular acidosis: new understandings.
    Batlle D, Ghanekar H, Jain S, Mitra A.
    Annu Rev Med; 2001 Dec 15; 52():471-84. PubMed ID: 11160790
    [Abstract] [Full Text] [Related]

  • 38. dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state.
    Fawaz NA, Beshlawi IO, Al Zadjali S, Al Ghaithi HK, Elnaggari MA, Elnour I, Wali YA, Al-Said BB, Rehman JU, Pathare AV, Knox-Macaulay H, Alkindi SS.
    Eur J Haematol; 2012 Apr 15; 88(4):350-5. PubMed ID: 22126643
    [Abstract] [Full Text] [Related]

  • 39. Genotypic analysis of SLC4A1 A858D mutation in Indian population associated with distal renal tubular Acidosis (dRTA) coupled with hemolytic anemia.
    More TA, Kedar PS.
    Gene; 2021 Feb 15; 769():145241. PubMed ID: 33068675
    [Abstract] [Full Text] [Related]

  • 40. Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.
    Mohebbi N, Vargas-Poussou R, Hegemann SC, Schuknecht B, Kistler AD, Wüthrich RP, Wagner CA.
    Clin Genet; 2013 Mar 15; 83(3):274-8. PubMed ID: 22509993
    [Abstract] [Full Text] [Related]


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