BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 21255002)

  • 1. 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; 152(5):655-64. PubMed ID: 21255002
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Four pedigrees of the cation-leaky hereditary stomatocytosis class presenting with pseudohyperkalaemia. Novel profile of temperature dependence of Na+-K+ leak in a xerocytic form.
    Gore DM; Layton M; Sinha AK; Williamson PJ; Vaidya B; Connolly V; Mannix P; Chetty MC; Nicolaou A; Stewart GW
    Br J Haematol; 2004 May; 125(4):521-7. PubMed ID: 15142123
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Hereditary stomatocytosis and cation-leaky red cells--recent developments.
    Bruce LJ
    Blood Cells Mol Dis; 2009; 42(3):216-22. PubMed ID: 19261491
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in band 3 and cation leaky red cells.
    Bruce L
    Blood Cells Mol Dis; 2006; 36(3):331-6. PubMed ID: 16531080
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Band 3 mutations, renal tubular acidosis and South-East Asian ovalocytosis in Malaysia and Papua New Guinea: loss of up to 95% band 3 transport in red cells.
    Bruce LJ; Wrong O; Toye AM; Young MT; Ogle G; Ismail Z; Sinha AK; McMaster P; Hwaihwanje I; Nash GB; Hart S; Lavu E; Palmer R; Othman A; Unwin RJ; Tanner MJ
    Biochem J; 2000 Aug; 350 Pt 1(Pt 1):41-51. PubMed ID: 10926824
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 118(19):5267-77. PubMed ID: 21791420
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

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

  • 10. 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; 37(11):1258-63. PubMed ID: 16227998
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.
    Fricke B; Jarvis HG; Reid CD; Aguilar-Martinez P; Robert A; Quittet P; Chetty M; Pizzey A; Cynober T; Lande WF; Mentzer WC; Düring M; Winter S; Delaunay J; Stewart GW
    Br J Haematol; 2004 Jun; 125(6):796-803. PubMed ID: 15180870
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 95(2):189-98. PubMed ID: 20015879
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Familial pseudohyperkalaemia Cardiff: a mild version of cryohydrocytosis.
    Gore DM; Chetty MC; Fisher J; Nicolaou A; Stewart GW
    Br J Haematol; 2002 Apr; 117(1):212-4. PubMed ID: 11918557
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Two British families with variants of the 'cryohydrocytosis' form of hereditary stomatocytosis.
    Coles SE; Chetty MC; Ho MM; Nicolaou A; Kearney JW; Wright SD; Stewart GW
    Br J Haematol; 1999 Jun; 105(4):1055-65. PubMed ID: 10554820
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Molecular Basis for Altered Cation Permeability in Hereditary Stomatocytic Human Red Blood Cells.
    Flatt JF; Bruce LJ
    Front Physiol; 2018; 9():367. PubMed ID: 29713289
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Southeast Asian ovalocytosis and a sickle cell trait in a young patient with sudden retinal stroke: a fortuitous association?
    Favale F; Gardembas M; Pajot O; Saada V; Fénéant-Thibault M; Delaunay J; Garçon L
    Hemoglobin; 2009; 33(6):475-9. PubMed ID: 19958192
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Red cell membrane transport abnormalities.
    Bruce LJ
    Curr Opin Hematol; 2008 May; 15(3):184-90. PubMed ID: 18391782
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A variant of hereditary stomatocytosis with marked pseudohyperkalaemia.
    Coles SE; Ho MM; Chetty MC; Nicolaou A; Stewart GW
    Br J Haematol; 1999 Feb; 104(2):275-83. PubMed ID: 10050708
    [TBL] [Abstract][Full Text] [Related]  

  • 19. South-east asian ovalocytic (SAO) erythrocytes have a cold sensitive cation leak: implications for in vitro studies on stored SAO red cells.
    Bruce LJ; Ring SM; Ridgwell K; Reardon DM; Seymour CA; Van Dort HM; Low PS; Tanner MJ
    Biochim Biophys Acta; 1999 Jan; 1416(1-2):258-70. PubMed ID: 9889381
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Hereditary stomatocytoses--diagnostic problems and their molecular basis].
    Bogusławska DM; Machnicka B; Sikorski AF
    Pol Merkur Lekarski; 2010 Aug; 29(170):119-24. PubMed ID: 20842826
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.