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Volumn 95, Issue 5, 2010, Pages 693-695

Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship

Author keywords

[No Author keywords available]

Indexed keywords

COAT PROTEIN; FERRITIN; FERROPORTIN; GROWTH DIFFERENTIATION FACTOR 15; HEMOGLOBIN; HEPCIDIN; PROTEIN SEC23B; UNCLASSIFIED DRUG;

EID: 77952311498     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.021683     Document Type: Editorial
Times cited : (3)

References (16)
  • 2
    • 0018663467 scopus 로고
    • Studies of ineffective erythropoiesis and peripheral haemolysis in congenital dyserythropoietic anaemia type II
    • Barosi G, Cazzola M, Stefanelli M, Ascari E. Studies of ineffective erythropoiesis and peripheral haemolysis in congenital dyserythropoietic anaemia type II. Br J Haematol. 1979;43:243-50.
    • (1979) Br J Haematol , vol.43 , pp. 243-250
    • Barosi, G.1    Cazzola, M.2    Stefanelli, M.3    Ascari, E.4
  • 3
    • 85047690614 scopus 로고
    • Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias
    • Cazzola M, Barosi G, Bergamaschi G, Dezza L, Palestra P, Polino G, et al. Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias. Br J Haematol. 1983;54:649-54.
    • (1983) Br J Haematol , vol.54 , pp. 649-654
    • Cazzola, M.1    Barosi, G.2    Bergamaschi, G.3    Dezza, L.4    Palestra, P.5    Polino, G.6
  • 5
    • 0028049495 scopus 로고
    • Regulators of iron balance in humans
    • Finch C. Regulators of iron balance in humans. Blood. 1994;84:1697-702.
    • (1994) Blood , vol.84 , pp. 1697-1702
    • Finch, C.1
  • 6
    • 10844258104 scopus 로고    scopus 로고
    • Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization
    • Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, et al. Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science. 2004;306:2090-3.
    • (2004) Science , vol.306 , pp. 2090-2093
    • Nemeth, E.1    Tuttle, M.S.2    Powelson, J.3    Vaughn, M.B.4    Donovan, A.5    Ward, D.M.6
  • 7
    • 34948904750 scopus 로고    scopus 로고
    • High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin
    • Tanno T, Bhanu NV, Oneal PA, Goh SH, Staker P, Lee YT, et al. High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin. Nat Med. 2007;13:1096-101.
    • (2007) Nat Med , vol.13 , pp. 1096-1101
    • Tanno, T.1    Bhanu, N.V.2    Oneal, P.A.3    Goh, S.H.4    Staker, P.5    Lee, Y.T.6
  • 8
    • 67651043722 scopus 로고    scopus 로고
    • Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells
    • Tanno T, Porayette P, Sripichai O, Noh SJ, Byrnes C, Bhupatiraju A, et al. Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells. Blood. 2009;114:181-6.
    • (2009) Blood , vol.114 , pp. 181-186
    • Tanno, T.1    Porayette, P.2    Sripichai, O.3    Noh, S.J.4    Byrnes, C.5    Bhupatiraju, A.6
  • 10
    • 58149399349 scopus 로고    scopus 로고
    • Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I
    • Tamary H, Shalev H, Perez-Avraham G, Zoldan M, Levi I, Swinkels DW, et al. Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. Blood. 2008;112:5241-4.
    • (2008) Blood , vol.112 , pp. 5241-5244
    • Tamary, H.1    Shalev, H.2    Perez-Avraham, G.3    Zoldan, M.4    Levi, I.5    Swinkels, D.W.6
  • 12
    • 34247555012 scopus 로고    scopus 로고
    • Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene
    • Zdebska E, Iolascon A, Spychalska J, Perrotta S, Lanzara C, Smolenska-Sym G, et al. Abnormalities of erythrocyte glycoconjugates are identical in two families with congenital dyserythropoietic anemia type II with different chromosomal localizations of the disease gene. Haematologica. 2007;92:427-8.
    • (2007) Haematologica , vol.92 , pp. 427-428
    • Zdebska, E.1    Iolascon, A.2    Spychalska, J.3    Perrotta, S.4    Lanzara, C.5    Smolenska-Sym, G.6
  • 13
    • 66049131181 scopus 로고    scopus 로고
    • Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II
    • Iolascon A, Delaunay J. Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II. Haematologica. 2009;94:599-602.
    • (2009) Haematologica , vol.94 , pp. 599-602
    • Iolascon, A.1    Delaunay, J.2
  • 14
    • 68149162593 scopus 로고    scopus 로고
    • Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II
    • Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009;41:936-40.
    • (2009) Nat Genet , vol.41 , pp. 936-940
    • Schwarz, K.1    Iolascon, A.2    Verissimo, F.3    Trede, N.S.4    Horsley, W.5    Chen, W.6
  • 15
    • 69549088132 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene
    • Bianchi P, Fermo E, Vercellati C, Boschetti C, Barcellini W, Iurlo A, et al. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene. Hum Mutat. 2009;30:1292-8.
    • (2009) Hum Mutat , vol.30 , pp. 1292-1298
    • Bianchi, P.1    Fermo, E.2    Vercellati, C.3    Boschetti, C.4    Barcellini, W.5    Iurlo, A.6
  • 16
    • 77952309984 scopus 로고    scopus 로고
    • Molecular analysis of forty two patients with congenital dysery- thropoietic anemia type II: New mutations in the SEC23B gene. Search for a genotype-phenotype relationship
    • Iolascon A, Russo R, Esposito MR, Asci R, Piscopo C, Perrotta S, et al. Molecular analysis of forty two patients with congenital dysery- thropoietic anemia type II: new mutations in the SEC23B gene. Search for a genotype-phenotype relationship. Haematologica. 2010; 95:708-15
    • (2010) Haematologica , vol.95 , pp. 708-715
    • Iolascon, A.1    Russo, R.2    Esposito, M.R.3    Asci, R.4    Piscopo, C.5    Perrotta, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.