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Volumn 18, Issue 3, 2011, Pages 146-151

Congenital dyserythropoietic anemias

Author keywords

congenital dyserythropoietic anemias; SEC23B and KLF1 genes; secondary dyserythropoiesis; syndromic dyserythropoietic anemias

Indexed keywords

TRANSCRIPTION FACTOR GATA 1;

EID: 79955016823     PISSN: 10656251     EISSN: 15317048     Source Type: Journal    
DOI: 10.1097/MOH.0b013e32834521b0     Document Type: Article
Times cited : (44)

References (45)
  • 1
    • 0014264724 scopus 로고
    • Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts
    • Heimpel H, Wendt F. Congenital dyserythropoietic anemia with karyorrhexis and multinuclearity of erythroblasts. Helv Med Acta 1968; 34:103-115.
    • (1968) Helv Med Acta , vol.34 , pp. 103-115
    • Heimpel, H.1    Wendt, F.2
  • 4
    • 77953858120 scopus 로고    scopus 로고
    • Frequency of congenital dysery-thropoietic anemias in Europe
    • Heimpel H, Matuschek A, Ahmed M, et al. Frequency of congenital dysery-thropoietic anemias in Europe. Eur J Haematol 2010; 85:20-25.
    • (2010) Eur J Haematol , vol.85 , pp. 20-25
    • Heimpel, H.1    Matuschek, A.2    Ahmed, M.3
  • 5
    • 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, et al. Elevated growth differentiation factor 15 expression in patients with congenital dyserythropoietic anemia type I. Blood 2008; 112:5241-5244.
    • (2008) Blood , vol.112 , pp. 5241-5244
    • Tamary, H.1    Shalev, H.2    Perez-Avraham, G.3
  • 6
    • 39149088077 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anemias
    • Wickramasinghe SN McCullough J (editors). Edinburgh: Elsevier -Churchill Livingstone
    • Wickramasinghe SN. Congenital dyserythropoietic anemias. In: Blood and bone marrow pathology. Wickramasinghe SN, McCullough J (editors). Edinburgh: Elsevier -Churchill Livingstone; 2003. pp. 273-282.
    • (2003) Blood and Bone Marrow Pathology , pp. 273-282
    • Wickramasinghe, S.N.1
  • 9
    • 66049133297 scopus 로고    scopus 로고
    • Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type i (CDAN1), is cell cycle regulated
    • Noy-Lotan S, Dgany O, Lahmi R, etal. Codanin-1, the protein encoded by the gene mutated in congenital dyserythropoietic anemia type I (CDAN1), is cell cycle regulated. Haematologica 2009; 94:629-637.
    • (2009) Haematologica , vol.94 , pp. 629-637
    • Noy-Lotan, S.1    Dgany, O.2    Lahmi, R.3
  • 10
    • 85040653046 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anemia type i
    • Pagon RA, Bird TC, Dolan CR, Stephens K, editors [online]. Seattle, WA: University of Washington, Seattle; posted Apr 21, 2009
    • Tamary H, Dgany O. Congenital dyserythropoietic anemia type I. In Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [online]. Seattle, WA: University of Washington, Seattle; posted Apr 21, 2009.
    • GeneReviews
    • Tamary, H.1    Dgany, O.2
  • 12
    • 0035883041 scopus 로고    scopus 로고
    • Natural history of congenital dyserythropoietic anemia (CDA II)
    • Iolascon A, Delaunay J, Wickramasinghe SN, et al. Natural history of congenital dyserythropoietic anemia (CDA II). Blood 2001; 98:1258-1260.
    • (2001) Blood , vol.98 , pp. 1258-1260
    • Iolascon, A.1    Delaunay, J.2    Wickramasinghe, S.N.3
  • 16
    • 77953181504 scopus 로고    scopus 로고
    • The morphological diagnosis of congenital dyserythropoietic anemia: Results of a quantitative analysis of peripheral blood and bone marrow cells
    • Heimpel H, Kellermann K, NeuschwanderN, etal. The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells. Haematologica 2010; 95:1034-1036.
    • (2010) Haematologica , vol.95 , pp. 1034-1036
    • Heimpel, H.1    Kellermann, K.2    Neuschwander, N.3
  • 18
    • 0030321625 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anemia type II: Molecular basis and clinical aspect
    • Iolascon I, D'Agostaro G, Perrotta S, et al. Congenital dyserythropoietic anemia type II: molecular basis and clinical aspect. Haematologica 1996; 81:542-558.
    • (1996) Haematologica , vol.81 , pp. 542-558
    • Iolascon, I.1    D'Agostaro, G.2    Perrotta, S.3
  • 19
    • 70349137147 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anemia type II (CDAII/ HEMPAS): Where are we now?
    • Denecke J, Marquardt T. Congenital dyserythropoietic anemia type II (CDAII/ HEMPAS): where are we now? Biochim Biophys Acta 2009; 1792:915-920.
    • (2009) Biochim Biophys Acta , vol.1792 , pp. 915-920
    • Denecke, J.1    Marquardt, T.2
  • 21
    • 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, et al. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet 2009; 41:936-940.
    • (2009) Nat Genet , vol.41 , pp. 936-940
    • Schwarz, K.1    Iolascon, A.2    Verissimo, F.3
  • 22
    • 69549088132 scopus 로고    scopus 로고
    • Congenital dyserythropoietic anemia type II (CDA II) is caused by mutations in the SEC23B gene
    • Bianchi P, Fermo E, Vercellati C, et al. Congenital dyserythropoietic anemia type II (CDA II) is caused by mutations in the SEC23B gene. Hum Mut 2009; 30:1292-1298.
    • (2009) Hum Mut , vol.30 , pp. 1292-1298
    • Bianchi, P.1    Fermo, E.2    Vercellati, C.3
  • 24
    • 33749128067 scopus 로고    scopus 로고
    • Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
    • Boyadjiev SA, Fromme JC, Ben J, et al. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to- Golgi trafficking. Nat Genet 2006; 38:1192-1196.
    • (2006) Nat Genet , vol.38 , pp. 1192-1196
    • Boyadjiev, S.A.1    Fromme, J.C.2    Ben, J.3
  • 25
    • 77952309984 scopus 로고    scopus 로고
    • Molecular analysis of forty two CDA II patients: New mutations in the SEC23B gene. Search for a genotype-phenotype relationship
    • Iolascon A, Russo R, Esposito MR, et al. Molecular analysis of forty two CDA II patients: new mutations in the SEC23B gene. Search for a genotype-phenotype relationship. Haematologica 2010; 95:708-715.
    • (2010) Haematologica , vol.95 , pp. 708-715
    • Iolascon, A.1    Russo, R.2    Esposito, M.R.3
  • 26
    • 78649526033 scopus 로고    scopus 로고
    • Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel mutations in SEC23B gene
    • Russo R, Esposito MR, Asci R, et al. Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel mutations in SEC23B gene. Am J Hematol 2010; 85:915-920.
    • (2010) Am J Hematol , vol.85 , pp. 915-920
    • Russo, R.1    Esposito, M.R.2    Asci, R.3
  • 28
    • 0028869553 scopus 로고
    • Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25
    • Lind L, Sandstrom H, Wahlin A, et al. Localization of the gene for congenital dyserythropoietic anemia type III, CDAN3, to chromosome 15q21-q25. Hum Mol Genet 1995; 4:109-112.
    • (1995) Hum Mol Genet , vol.4 , pp. 109-112
    • Lind, L.1    Sandstrom, H.2    Wahlin, A.3
  • 30
    • 0025992718 scopus 로고
    • Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions
    • Wickramasinghe SN, Illum N, Wimberley PD. Congenital dyserythropoietic anaemia with novel intra-erythroblastic and intra-erythrocytic inclusions. Br J Haematol 1991; 79:322-330.
    • (1991) Br J Haematol , vol.79 , pp. 322-330
    • Wickramasinghe, S.N.1    Illum, N.2    Wimberley, P.D.3
  • 31
    • 0027446930 scopus 로고
    • Expression of embryonic ζ-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia
    • Tang W, Cai SP, Eng B, et al. Expression of embryonic zeta-globin and epsilon-globin chains in a 10-year-old girl with congenital anemia. Blood 1993; 81:1636-1640. (Pubitemid 23083846)
    • (1993) Blood , vol.81 , Issue.6 , pp. 1636-1640
    • Tang, W.1    Cai, S.-P.2    Eng, B.3    Poon, M.-C.4    Waye, J.S.5    Illum, N.6    Chui, D.H.K.7
  • 32
    • 0027980006 scopus 로고
    • A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44and a unique blood group phenotype [In (a-b-), Co (a-b-)]
    • Parsons SF, Jones J, Anstee DJ, et al. A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44and a unique blood group phenotype [In (a-b-), Co (a-b-)]. Blood 1994; 83:860-868.
    • (1994) Blood , vol.83 , pp. 860-868
    • Parsons, S.F.1    Jones, J.2    Anstee, D.J.3
  • 33
    • 0027968603 scopus 로고
    • Human red cell aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia
    • Agre P, Smith BL, Baumgarten R, etal. Human red cell aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia. J Clin Invest 1994; 94:1050-1058.
    • (1994) J Clin Invest , vol.94 , pp. 1050-1058
    • Agre, P.1    Smith, B.L.2    Baumgarten, R.3
  • 34
    • 78249264453 scopus 로고    scopus 로고
    • A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia
    • Arnaud L, Saison C, Helias V, et al. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 2010; 87:721-727.
    • (2010) Am J Hum Genet , vol.87 , pp. 721-727
    • Arnaud, L.1    Saison, C.2    Helias, V.3
  • 35
    • 52649088204 scopus 로고    scopus 로고
    • Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype
    • Singleton BK, Burton NM, Green C, et al. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. Blood 2008; 112:2081-2088.
    • (2008) Blood , vol.112 , pp. 2081-2088
    • Singleton, B.K.1    Burton, N.M.2    Green, C.3
  • 36
    • 77956622584 scopus 로고    scopus 로고
    • Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
    • Borg J, Papadopoulos P, Georgitsi M, et al. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet 2010; 42:801-805.
    • (2010) Nat Genet , vol.42 , pp. 801-805
    • Borg, J.1    Papadopoulos, P.2    Georgitsi, M.3
  • 37
    • 77956630402 scopus 로고    scopus 로고
    • KLF1 regulates BCL11A expression and 7-to p-globin gene switching
    • Zhou D, Liu K, Sun CW, et al. KLF1 regulates BCL11A expression and 7-to p-globin gene switching. Nat Genet 2010; 42:742-744.
    • (2010) Nat Genet , vol.42 , pp. 742-744
    • Zhou, D.1    Liu, K.2    Sun, C.W.3
  • 38
    • 78649451381 scopus 로고    scopus 로고
    • Mutation in erythroid specific transcription factor KLF1 causes hereditary spherocytosis in the Nan hemo lytic anemia mouse model
    • Heruth DP, Hawkins T, Logsdon DP, et al. Mutation in erythroid specific transcription factor KLF1 causes hereditary spherocytosis in the Nan hemo lytic anemia mouse model. Genomics 2010; 96:303-307.
    • (2010) Genomics , vol.96 , pp. 303-307
    • Heruth, D.P.1    Hawkins, T.2    Logsdon, D.P.3
  • 39
    • 77957016122 scopus 로고    scopus 로고
    • Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor
    • Siatecka M, Sahr KE, Mezei M, etal. Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor. Proc Natl Acad Sci USA 2010; 107:15151 -15156T.
    • (2010) Proc Natl Acad Sci USA , vol.107
    • Siatecka, M.1    Sahr, K.E.2    Mezei, M.3
  • 40
    • 84878238330 scopus 로고    scopus 로고
    • Majeed syndrome
    • Pagon RA, Bird TC, Dolan CR, Stephens K, editors Seattle, WA: University of Washington, Seattle; posted Sep 23, 2008
    • Majeed HA, El-Shanti H. Majeed syndrome. In Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [online]. Seattle, WA: University of Washington, Seattle; posted Sep 23, 2008.
    • GeneReviews
    • Majeed, H.A.1    El-Shanti, H.2
  • 42
    • 61549103491 scopus 로고    scopus 로고
    • Exocrine pancreatic insufficient, dyserythropoietic anemia, and calvarial hyperostosis are caused by a mutation in COX4I2 gene
    • Shteyer E, Saada A, Shaag A, et al. Exocrine pancreatic insufficient, dyserythropoietic anemia, and calvarial hyperostosis are caused by a mutation in COX4I2 gene. Am J Hum Genet 2009; 84:412-417.
    • (2009) Am J Hum Genet , vol.84 , pp. 412-417
    • Shteyer, E.1    Saada, A.2    Shaag, A.3
  • 43
    • 68049142292 scopus 로고    scopus 로고
    • A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythro-poiesis
    • Iolascon A, De Falco L, Borgese F, et al. A novel erythroid anion exchange variant (Gly796Arg) of hereditary stomatocytosis associated with dyserythro-poiesis. Haematologica 2009; 94:1049-1059.
    • (2009) Haematologica , vol.94 , pp. 1049-1059
    • Iolascon, A.1    De Falco, L.2    Borgese, F.3
  • 45
    • 77950567898 scopus 로고    scopus 로고
    • A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia
    • Samkari A, Borzutzky A, Fermo E, et al. A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia. Pediatrics 2010; 125:e964-e968.
    • (2010) Pediatrics , vol.125
    • Samkari, A.1    Borzutzky, A.2    Fermo, E.3


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