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Journal Abstract Search

257 related items for PubMed ID: 19644137

  • 1. A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythropoiesis.
    Iolascon A, De Falco L, Borgese F, Esposito MR, Avvisati RA, Izzo P, Piscopo C, Guizouarn H, Biondani A, Pantaleo A, De Franceschi L.
    Haematologica; 2009 Aug; 94(8):1049-59. PubMed ID: 19644137
    [Abstract] [Full Text] [Related]

  • 2. Rapid Cl⁻/HCO⁻₃exchange kinetics of AE1 in HEK293 cells and hereditary stomatocytosis red blood cells.
    Frumence E, Genetet S, Ripoche P, Iolascon A, Andolfo I, Le Van Kim C, Colin Y, Mouro-Chanteloup I, Lopez C.
    Am J Physiol Cell Physiol; 2013 Sep 15; 305(6):C654-62. PubMed ID: 23842529
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  • 3. Hereditary stomatocytosis and cation-leaky red cells--recent developments.
    Bruce LJ.
    Blood Cells Mol Dis; 2009 Sep 15; 42(3):216-22. PubMed ID: 19261491
    [Abstract] [Full Text] [Related]

  • 4. Cryohydrocytosis: increased activity of cation carriers in red cells from a patient with a band 3 mutation.
    Bogdanova A, Goede JS, Weiss E, Bogdanov N, Bennekou P, Bernhardt I, Lutz HU.
    Haematologica; 2010 Feb 15; 95(2):189-98. PubMed ID: 20015879
    [Abstract] [Full Text] [Related]

  • 5. Functional characterization and modified rescue of novel AE1 mutation R730C associated with overhydrated cation leak stomatocytosis.
    Stewart AK, Kedar PS, Shmukler BE, Vandorpe DH, Hsu A, Glader B, Rivera A, Brugnara C, Alper SL.
    Am J Physiol Cell Physiol; 2011 May 15; 300(5):C1034-46. PubMed ID: 21209359
    [Abstract] [Full Text] [Related]

  • 6. South-east Asian ovalocytosis and the cryohydrocytosis form of hereditary stomatocytosis show virtually indistinguishable cation permeability defects.
    Guizouarn H, Borgese F, Gabillat N, Harrison P, Goede JS, McMahon C, Stewart GW, Bruce LJ.
    Br J Haematol; 2011 Mar 15; 152(5):655-64. PubMed ID: 21255002
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  • 7. Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1.
    Bruce LJ, Robinson HC, Guizouarn H, Borgese F, Harrison P, King MJ, Goede JS, Coles SE, Gore DM, Lutz HU, Ficarella R, Layton DM, Iolascon A, Ellory JC, Stewart GW.
    Nat Genet; 2005 Nov 15; 37(11):1258-63. PubMed ID: 16227998
    [Abstract] [Full Text] [Related]

  • 8. Cation-leak stomatocytosis in standard schnauzers does not cosegregate with coding mutations in the RhAG, SLC4A1, or GLUT1 genes associated with human disease.
    Shmukler BE, Rivera A, Vandorpe DH, Alves J, Bonfanti U, Paltrinieri S, Alper SL.
    Blood Cells Mol Dis; 2012 Apr 15; 48(4):219-25. PubMed ID: 22406315
    [Abstract] [Full Text] [Related]

  • 9. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations.
    Delaunay J.
    Semin Hematol; 2004 Apr 15; 41(2):165-72. PubMed ID: 15071792
    [Abstract] [Full Text] [Related]

  • 10. The GPA-dependent, spherostomatocytosis mutant AE1 E758K induces GPA-independent, endogenous cation transport in amphibian oocytes.
    Stewart AK, Vandorpe DH, Heneghan JF, Chebib F, Stolpe K, Akhavein A, Edelman EJ, Maksimova Y, Gallagher PG, Alper SL.
    Am J Physiol Cell Physiol; 2010 Feb 15; 298(2):C283-97. PubMed ID: 19907019
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  • 12. 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 Feb 15; 76(5):723-8. PubMed ID: 10353704
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  • 14. Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.
    Reithmeier RA, Casey JR, Kalli AC, Sansom MS, Alguel Y, Iwata S.
    Biochim Biophys Acta; 2016 Jul 15; 1858(7 Pt A):1507-32. PubMed ID: 27058983
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  • 19. Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1: a novel form of GLUT1 deficiency syndrome.
    Flatt JF, Guizouarn H, Burton NM, Borgese F, Tomlinson RJ, Forsyth RJ, Baldwin SA, Levinson BE, Quittet P, Aguilar-Martinez P, Delaunay J, Stewart GW, Bruce LJ.
    Blood; 2011 Nov 10; 118(19):5267-77. PubMed ID: 21791420
    [Abstract] [Full Text] [Related]

  • 20. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
    Albuisson J, Murthy SE, Bandell M, Coste B, Louis-Dit-Picard H, Mathur J, Fénéant-Thibault M, Tertian G, de Jaureguiberry JP, Syfuss PY, Cahalan S, Garçon L, Toutain F, Simon Rohrlich P, Delaunay J, Picard V, Jeunemaitre X, Patapoutian A.
    Nat Commun; 2013 Nov 10; 4():1884. PubMed ID: 23695678
    [Abstract] [Full Text] [Related]

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