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Volumn 89, Issue 12, 2014, Pages 1142-1146

Hereditary xerocytosis revisited

Author keywords

[No Author keywords available]

Indexed keywords

BILIRUBIN; CATION CHANNEL; FERRITIN; GENOMIC DNA; GLUCURONOSYLTRANSFERASE 1A1; HAPTOGLOBIN; HEMOGLOBIN; HEMOSIDERIN; HFE PROTEIN; ION CHANNEL; IRON; PIEZO1 PROTEIN; POTASSIUM; SODIUM; TRANSFERRIN; UNCLASSIFIED DRUG; GLUCURONOSYLTRANSFERASE; HFE PROTEIN, HUMAN; HLA ANTIGEN CLASS 1; MEMBRANE PROTEIN; PIEZO1 PROTEIN, HUMAN; UGT1A1 ENZYME;

EID: 84922393050     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23799     Document Type: Article
Times cited : (44)

References (26)
  • 1
    • 0019385901 scopus 로고
    • Exercise-induced hemolysis in xerocytosis. Erythrocyte dehydration and shear sensitivity
    • Platt OS, Lux SE, Nathan DG. Exercise-induced hemolysis in xerocytosis. Erythrocyte dehydration and shear sensitivity. J Clin Invest 1981;68:631-638.
    • (1981) J Clin Invest , vol.68 , pp. 631-638
    • Platt, O.S.1    Lux, S.E.2    Nathan, D.G.3
  • 2
    • 0015104774 scopus 로고
    • A new variant of hereditary hemolytic anemia with stomatocytosis and erythrocyte cation abnormality
    • Miller DR, Rickles FR, Lichtman MA, et al. A new variant of hereditary hemolytic anemia with stomatocytosis and erythrocyte cation abnormality. Blood 1971;38:184-204.
    • (1971) Blood , vol.38 , pp. 184-204
    • Miller, D.R.1    Rickles, F.R.2    Lichtman, M.A.3
  • 3
    • 0016283568 scopus 로고
    • Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss
    • Glader BE, Fortier N, Albala MM, et al. Congenital hemolytic anemia associated with dehydrated erythrocytes and increased potassium loss. N Engl J Med 1974;291:491-496.
    • (1974) N Engl J Med , vol.291 , pp. 491-496
    • Glader, B.E.1    Fortier, N.2    Albala, M.M.3
  • 4
    • 84871418488 scopus 로고    scopus 로고
    • Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia
    • Andolfo I, Alper SL, Delaunay J, et al. Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. Am J Hematol 2013;88:66-72.
    • (2013) Am J Hematol , vol.88 , pp. 66-72
    • Andolfo, I.1    Alper, S.L.2    Delaunay, J.3
  • 5
    • 84865279173 scopus 로고    scopus 로고
    • Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
    • Zarychanski R, Schulz VP, Houston BL, et al. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood 2012;120:1908-1915.
    • (2012) Blood , vol.120 , pp. 1908-1915
    • Zarychanski, R.1    Schulz, V.P.2    Houston, B.L.3
  • 6
    • 84878716780 scopus 로고    scopus 로고
    • Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1
    • S3921-S3912
    • Andolfo I, Alper SL, De Franceschi L, et al. Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1. Blood 2013;121:3925-3935, S3921-S3912.
    • (2013) Blood , vol.121 , pp. 3925-3935
    • Andolfo, I.1    Alper, S.L.2    De Franceschi, L.3
  • 7
    • 84878689800 scopus 로고    scopus 로고
    • Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels
    • Albuisson J, Murthy SE, Bandell M, et al. Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels. Nat Commun 2013;4:1-8.
    • (2013) Nat Commun , vol.4 , pp. 1-8
    • Albuisson, J.1    Murthy, S.E.2    Bandell, M.3
  • 8
    • 77649297696 scopus 로고    scopus 로고
    • Hypoxia activates a Ca2+-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes
    • Vandorpe DH, Xu C, Shmukler BE, et al. Hypoxia activates a Ca2+-permeable cation conductance sensitive to carbon monoxide and to GsMTx-4 in human and mouse sickle erythrocytes. PLoS One 2010;5:e8732.
    • (2010) PLoS One , vol.5 , pp. e8732
    • Vandorpe, D.H.1    Xu, C.2    Shmukler, B.E.3
  • 9
    • 79960498823 scopus 로고    scopus 로고
    • The mechanosensitive ion channel Piezo1 is inhibited by the peptide GsMTx4
    • Bae C, Sachs F, Gottlieb PA. The mechanosensitive ion channel Piezo1 is inhibited by the peptide GsMTx4. Biochemistry 2011;50:6295-6300.
    • (2011) Biochemistry , vol.50 , pp. 6295-6300
    • Bae, C.1    Sachs, F.2    Gottlieb, P.A.3
  • 10
    • 84875274978 scopus 로고    scopus 로고
    • Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1
    • Proc Natl Acad Sci USA
    • Bae C, Gnanasambandam R, Nicolai C, et al. Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1. Proc Natl Acad Sci USA 2013;110:E1162-E1168.
    • (2013) , vol.110 , pp. E1162-E1168
    • Bae, C.1    Gnanasambandam, R.2    Nicolai, C.3
  • 11
    • 84888337916 scopus 로고    scopus 로고
    • Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: A case report
    • Blood Cells Mol Dis
    • Shmukler BE, Vandorpe DH, Rivera A, et al. Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: A case report. Blood Cells Mol Dis 2014;52:53-54.
    • (2014) , vol.52 , pp. 53-54
    • Shmukler, B.E.1    Vandorpe, D.H.2    Rivera, A.3
  • 13
    • 0034974248 scopus 로고    scopus 로고
    • MCV as a guide to phlebotomy therapy for hemochromatosis
    • Bolan CD, Conry-Cantilena C, Mason G, et al. MCV as a guide to phlebotomy therapy for hemochromatosis. Transfusion 2001;41:819-827.
    • (2001) Transfusion , vol.41 , pp. 819-827
    • Bolan, C.D.1    Conry-Cantilena, C.2    Mason, G.3
  • 14
    • 84892569074 scopus 로고    scopus 로고
    • Piezo1 plays a role in erythrocyte volume homeostasis
    • Faucherre A, Kissa K, Nargeot J, et al. Piezo1 plays a role in erythrocyte volume homeostasis. Haematologica 2014;99:70-75.
    • (2014) Haematologica , vol.99 , pp. 70-75
    • Faucherre, A.1    Kissa, K.2    Nargeot, J.3
  • 15
    • 70350657093 scopus 로고    scopus 로고
    • Genes determining blood cell traits
    • Andrews NC. Genes determining blood cell traits. Nat Genet 2009;41:1161-1162.
    • (2009) Nat Genet , vol.41 , pp. 1161-1162
    • Andrews, N.C.1
  • 16
    • 84893131979 scopus 로고    scopus 로고
    • Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes
    • Chami N, Lettre G. Lessons and Implications from Genome-Wide Association Studies (GWAS) Findings of Blood Cell Phenotypes. Genes (Basel) 2014;5:51-64.
    • (2014) Genes (Basel) , vol.5 , pp. 51-64
    • Chami, N.1    Lettre, G.2
  • 17
    • 84871464519 scopus 로고    scopus 로고
    • Seventy-five genetic loci influencing the human red blood cell
    • van der Harst P, Zhang W, Mateo Leach I, et al. Seventy-five genetic loci influencing the human red blood cell. Nature 2012;492:369-375.
    • (2012) Nature , vol.492 , pp. 369-375
    • van der Harst, P.1    Zhang, W.2    Mateo Leach, I.3
  • 18
    • 84907423981 scopus 로고    scopus 로고
    • Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging
    • Assis RA, Kassab C, Seguro FS, et al. Iron overload in a teenager with xerocytosis: the importance of nuclear magnetic resonance imaging. Einstein (Sao Paulo) 2013;11:528-532.
    • (2013) Einstein (Sao Paulo) , vol.11 , pp. 528-532
    • Assis, R.A.1    Kassab, C.2    Seguro, F.S.3
  • 19
    • 84883684492 scopus 로고    scopus 로고
    • Transfusion suppresses erythropoiesis and increases hepcidin in adult patients with β-thalassemia major: A longitudinal study
    • Pasricha SR, Frazer DM, Bowden DK, Anderson GJ. Transfusion suppresses erythropoiesis and increases hepcidin in adult patients with β-thalassemia major: A longitudinal study. Blood 2013;122:124-133.
    • (2013) Blood , vol.122 , pp. 124-133
    • Pasricha, S.R.1    Frazer, D.M.2    Bowden, D.K.3    Anderson, G.J.4
  • 20
    • 0019914953 scopus 로고
    • Iron overload in hereditary spherocytosis: Association with HLA-linked hemochromatosis
    • Edwards CQ, Skolnick MH, Dadone MM, Kushner JP. Iron overload in hereditary spherocytosis: Association with HLA-linked hemochromatosis. Am J Hematol 1982;13:101-109.
    • (1982) Am J Hematol , vol.13 , pp. 101-109
    • Edwards, C.Q.1    Skolnick, M.H.2    Dadone, M.M.3    Kushner, J.P.4
  • 21
    • 0021562262 scopus 로고
    • Patients with hereditary spherocytosis may have clinically significant iron overload when they are also heterozygous for hemochromatosis
    • Mohler D, Wheby M. Patients with hereditary spherocytosis may have clinically significant iron overload when they are also heterozygous for hemochromatosis. Trans Am Clin Climatol Assoc 1985;96:34-40.
    • (1985) Trans Am Clin Climatol Assoc , vol.96 , pp. 34-40
    • Mohler, D.1    Wheby, M.2
  • 22
    • 0023036726 scopus 로고
    • Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload
    • Fargion S, Cappellini MD, Piperno A, et al. Association of hereditary spherocytosis and idiopathic hemochromatosis. A synergistic effect in determining iron overload. Am J Clin Pathol 1986;86:645-649.
    • (1986) Am J Clin Pathol , vol.86 , pp. 645-649
    • Fargion, S.1    Cappellini, M.D.2    Piperno, A.3
  • 23
    • 9744255489 scopus 로고    scopus 로고
    • Congenital spherocytosis with hereditary hemochromatosis without pathogenic mutations in the HFE gene
    • Ichiche M, Lacor P, Hoorens A, et al. Congenital spherocytosis with hereditary hemochromatosis without pathogenic mutations in the HFE gene. Eur J Intern Med 2004;15:460-462.
    • (2004) Eur J Intern Med , vol.15 , pp. 460-462
    • Ichiche, M.1    Lacor, P.2    Hoorens, A.3
  • 24
    • 84897401236 scopus 로고    scopus 로고
    • Erythropoiesis-driven regulation of hepcidin in human red cell disorders is better reflected through concentrations of soluble transferrin receptor rather than growth differentiation factor 15
    • Fertrin K, Lanaro C, Franco-Penteado C, et al. Erythropoiesis-driven regulation of hepcidin in human red cell disorders is better reflected through concentrations of soluble transferrin receptor rather than growth differentiation factor 15. Am J Hematol 2014;89:385-390.
    • (2014) Am J Hematol , vol.89 , pp. 385-390
    • Fertrin, K.1    Lanaro, C.2    Franco-Penteado, C.3
  • 25
    • 84903578007 scopus 로고    scopus 로고
    • Identification of erythroferrone as an erythroid regulator of iron metabolism
    • Kautz L, Jung G, Valore EV, et al. Identification of erythroferrone as an erythroid regulator of iron metabolism. Nat Genet 2014;46:678-684.
    • (2014) Nat Genet , vol.46 , pp. 678-684
    • Kautz, L.1    Jung, G.2    Valore, E.V.3
  • 26
    • 84939263913 scopus 로고    scopus 로고
    • The Scripps Research Institute.(URL:). La Jolla, CA: Amazon's Elastic Compute Cloud (EC2).
    • The Scripps Research Institute. 2014. BioGPS (URL: http://biogps.org/#goto=genereport&id=9780). La Jolla, CA: Amazon's Elastic Compute Cloud (EC2).
    • (2014) BioGPS


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