BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 22518001)

  • 1. 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; 23(7):1238-49. PubMed ID: 22518001
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Defective kidney anion-exchanger 1 (AE1, Band 3) trafficking in dominant distal renal tubular acidosis (dRTA).
    Toye AM
    Biochem Soc Symp; 2005; (72):47-63. PubMed ID: 15649129
    [TBL] [Abstract][Full Text] [Related]  

  • 3. The association between familial distal renal tubular acidosis and mutations in the red cell anion exchanger (band 3, AE1) gene.
    Bruce LJ; Unwin RJ; Wrong O; Tanner MJ
    Biochem Cell Biol; 1998; 76(5):723-8. PubMed ID: 10353704
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 279(14):13833-8. PubMed ID: 14734552
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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. PubMed ID: 12087557
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Cation transport activity of anion exchanger 1 mutations found in inherited distal renal tubular acidosis.
    Walsh S; Borgese F; Gabillat N; Unwin R; Guizouarn H
    Am J Physiol Renal Physiol; 2008 Aug; 295(2):F343-50. PubMed ID: 18524859
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 426(3):379-88. PubMed ID: 20028337
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA).
    Toye AM; Banting G; Tanner MJ
    J Cell Sci; 2004 Mar; 117(Pt 8):1399-410. PubMed ID: 14996906
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 410(2):271-81. PubMed ID: 17941824
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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; 273(11):6380-8. PubMed ID: 9497368
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 16420521
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 102(12):2173-9. PubMed ID: 9854053
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Characterization of a highly polymorphic marker adjacent to the SLC4A1 gene and of kidney immunostaining in a family with distal renal tubular acidosis.
    Shayakul C; Jarolim P; Zachlederova M; Prabakaran D; Cortez-Campeao D; Kalabova D; Stuart-Tilley AK; Ideguchi H; Haller C; Alper SL
    Nephrol Dial Transplant; 2004 Feb; 19(2):371-9. PubMed ID: 14736961
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 382(4):668-72. PubMed ID: 19289107
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 368(Pt 3):895-903. PubMed ID: 12227829
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.
    Cheidde L; Vieira TC; Lima PR; Saad ST; Heilberg IP
    Pediatrics; 2003 Dec; 112(6 Pt 1):1361-7. PubMed ID: 14654610
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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; 291(6):F1354-61. PubMed ID: 16849697
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Degradation mechanism of a Golgi-retained distal renal tubular acidosis mutant of the kidney anion exchanger 1 in renal cells.
    Chu CY; King J; Berrini M; Rumley AC; Apaja PM; Lukacs GL; Alexander RT; Cordat E
    Am J Physiol Cell Physiol; 2014 Aug; 307(3):C296-307. PubMed ID: 24920676
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Band 3 mutations, distal renal tubular acidosis, and Southeast Asian ovalocytosis.
    Wrong O; Bruce LJ; Unwin RJ; Toye AM; Tanner MJ
    Kidney Int; 2002 Jul; 62(1):10-9. PubMed ID: 12081559
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.