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Volumn 19, Issue 6, 2012, Pages 486-493

Blood group phenotypes resulting from mutations in erythroid transcription factors

Author keywords

erythroid transcription factor; GATA1; KLF1; Lutheran blood group; red blood cells

Indexed keywords

AQUAPORIN 1; BLOOD GROUP ANTIGEN; DNA; ERYTHROID KRUPPEL LIKE FACTOR; HEMOGLOBIN; HEMOGLOBIN BETA CHAIN; HEMOGLOBIN DELTA CHAIN; HEMOGLOBIN F; HEMOGLOBIN GAMMA CHAIN; KRUPPEL LIKE FACTOR 1; PROTOPORPHYRIN ZINC; TRANSCRIPTION FACTOR GATA 1; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

EID: 84868191127     PISSN: 10656251     EISSN: 15317048     Source Type: Journal    
DOI: 10.1097/MOH.0b013e328358f92e     Document Type: Review
Times cited : (31)

References (59)
  • 1
    • 0029078165 scopus 로고
    • The Lutheran blood group glycoprotein, another member of the immunoglobulin superfamily, is widely expressed in human tissues and is developmentally regulated in human liver
    • Parsons SF, Mallinson G, Holmes CH, et al. The Lutheran blood group glycoprotein, another member of the immunoglobulin superfamily, is widely expressed in human tissues and is developmentally regulated in human liver. Proc Natl Acad Sci USA 1995; 92:5496-5500.
    • (1995) Proc Natl Acad Sci USA , vol.92 , pp. 5496-5500
    • Parsons, S.F.1    Mallinson, G.2    Holmes, C.H.3
  • 2
    • 0035161468 scopus 로고    scopus 로고
    • Lutheran blood group glycoprotein and its newly characterized mouse homologue specifically bind alpha5 chain-containing human laminin with high affinity
    • Parsons SF, Lee G, Spring FA, et al. Lutheran blood group glycoprotein and its newly characterized mouse homologue specifically bind alpha5 chain-containing human laminin with high affinity. Blood 2001; 97:312-320.
    • (2001) Blood , vol.97 , pp. 312-320
    • Parsons, S.F.1    Lee, G.2    Spring, F.A.3
  • 3
    • 0035968260 scopus 로고    scopus 로고
    • Characterization of the laminin binding domains of the Lutheran blood group glycoprotein
    • El Nemer W, Gane P, Colin Y, et al. Characterization of the laminin binding domains of the Lutheran blood group glycoprotein. J Biol Chem 2001; 276:23757-23762.
    • (2001) J Biol Chem , vol.276 , pp. 23757-23762
    • El Nemer, W.1    Gane, P.2    Colin, Y.3
  • 4
    • 77955849140 scopus 로고    scopus 로고
    • Role of Lu/BCAM glycoproteins in red cell diseases
    • El Nemer W, Colin Y, Le Van Kim C. Role of Lu/BCAM glycoproteins in red cell diseases. Transfus Clin Biol 2010; 17:143-147.
    • (2010) Transfus Clin Biol , vol.17 , pp. 143-147
    • El Nemer, W.1    Colin, Y.2    Le Van Kim, C.3
  • 5
    • 0016154826 scopus 로고
    • The recessive Lu(a-b-) phenotype: A family study
    • Brown F, Simpson S, Cornwall S, et al. The recessive Lu(a-b-) phenotype: a family study. Vox Sang 1974; 26:259-264.
    • (1974) Vox Sang , vol.26 , pp. 259-264
    • Brown, F.1    Simpson, S.2    Cornwall, S.3
  • 6
    • 33847017587 scopus 로고    scopus 로고
    • Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype
    • Karamatic Crew V, Mallinson G, Green C, et al. Different inactivating mutations in the LU genes of three individuals with the Lutheran-null phenotype. Transfusion 2007; 47:492-498.
    • (2007) Transfusion , vol.47 , pp. 492-498
    • Karamatic Crew, V.1    Mallinson, G.2    Green, C.3
  • 7
    • 84995190011 scopus 로고
    • The phenotype Lu(a-b-) together with unconventional Kidd groups in one family
    • Crawford MN, Greenwalt TJ, Sasaki T, et al. The phenotype Lu(a-b-) together with unconventional Kidd groups in one family. Transfusion 1961; 1:228-232.
    • (1961) Transfusion , vol.1 , pp. 228-232
    • Crawford, M.N.1    Greenwalt, T.J.2    Sasaki, T.3
  • 8
    • 0022528833 scopus 로고
    • A Lu(a-b-) phenotype caused by an Xlinked recessive gene
    • Norman PC, Tippett P, Beal RW. A Lu(a-b-) phenotype caused by an Xlinked recessive gene. Vox Sang 1986; 51:49-52.
    • (1986) Vox Sang , vol.51 , pp. 49-52
    • Norman, P.C.1    Tippett, P.2    Beal, R.W.3
  • 9
    • 0015534879 scopus 로고
    • The genetics of a dominant inhibitor of the Lutheran antigens
    • Taliano V, Gué vin R-M, Tippett P. The genetics of a dominant inhibitor of the Lutheran antigens. Vox Sang 1973; 24:42-47.
    • (1973) Vox Sang , vol.24 , pp. 42-47
    • Taliano, V.1    Guévin, R.-M.2    Tippett, P.3
  • 10
    • 0021592907 scopus 로고
    • The rare Lutheran blood group phenotype Lu(a-b-): A genetic study
    • Shaw MA, Leak MR, Daniels GL, Tippett P. The rare Lutheran blood group phenotype Lu(a-b-): a genetic study. Ann Hum Genet 1984; 48:229-237.
    • (1984) Ann Hum Genet , vol.48 , pp. 229-237
    • Shaw, M.A.1    Leak, M.R.2    Daniels, G.L.3    Tippett, P.4
  • 11
    • 0026574785 scopus 로고
    • A study on Lu-null families in South Wales
    • Rowe GP, Gale SA, Daniels GL, et al. A study on Lu-null families in South Wales. Ann Hum Genet 1992; 56:267-272.
    • (1992) Ann Hum Genet , vol.56 , pp. 267-272
    • Rowe, G.P.1    Gale, S.A.2    Daniels, G.L.3
  • 12
    • 0029436563 scopus 로고
    • Lutheran antigens CD44-related antigens, and Lutheran regulatory genes
    • Telen MJ. Lutheran antigens, CD44-related antigens, and Lutheran regulatory genes. Transfus Clin Biol 1995; 2:291-301.
    • (1995) Transfus Clin Biol , vol.2 , pp. 291-301
    • Telen, M.J.1
  • 13
    • 0023118097 scopus 로고
    • New abnormalities in the morphology, cell surface receptors, and electrolyte metabolism of In(Lu) erythrocytes
    • Udden MM, Umeda M, Hirano Y, Marcus DM. New abnormalities in the morphology, cell surface receptors, and electrolyte metabolism of In(Lu) erythrocytes. Blood 1987; 69:52-57.
    • (1987) Blood , vol.69 , pp. 52-57
    • Udden, M.M.1    Umeda, M.2    Hirano, Y.3    Marcus, D.M.4
  • 14
    • 0026662296 scopus 로고
    • In vitro storage and in vivo survival studies of red cells from persons with the In(Lu) gene
    • Ballas SK, Marcolina MJ, Crawford MN. In vitro storage and in vivo survival studies of red cells from persons with the In(Lu) gene. Transfusion 1992; 32:607-611.
    • (1992) Transfusion , vol.32 , pp. 607-611
    • Ballas, S.K.1    Marcolina, M.J.2    Crawford, M.N.3
  • 15
    • 0023835153 scopus 로고
    • A regional localisation for an Xlinked suppressor gene (XS) for the Lutheran blood group
    • Mulley JC, Norman PC, Tippett P, Beal RW. A regional localisation for an Xlinked suppressor gene (XS) for the Lutheran blood group. Hum Genet 1988; 78:127-129.
    • (1988) Hum Genet , vol.78 , pp. 127-129
    • Mulley, J.C.1    Norman, P.C.2    Tippett, P.3    Beal, R.W.4
  • 16
    • 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
  • 17
    • 0027446930 scopus 로고
    • Expression of embryonic zeta-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.
    • (1993) Blood , vol.81 , pp. 1636-1640
    • Tang, W.1    Cai, S.P.2    Eng, B.3
  • 18
    • 0027980006 scopus 로고
    • A novel form of congenital dyserythropoietic anemia associated with deficiency of erythroid CD44 and 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 CD44 and 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
  • 19
    • 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, et al. 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
  • 20
    • 0029010790 scopus 로고
    • Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene
    • Nuez B, Michalovich D, Bygrave A, et al. Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene. Nature 1995; 375:316-318.
    • (1995) Nature , vol.375 , pp. 316-318
    • Nuez, B.1    Michalovich, D.2    Bygrave, A.3
  • 21
    • 0028990264 scopus 로고
    • Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF
    • Perkins AC, Sharpe AH, Orkin SH. Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF. Nature 1995; 375:318-322.
    • (1995) Nature , vol.375 , pp. 318-322
    • Perkins, A.C.1    Sharpe, A.H.2    Orkin, S.H.3
  • 22
    • 0029861514 scopus 로고    scopus 로고
    • Silencing of human fetal globin expression is impaired in the absence of the adult beta-globin gene activator protein EKLF
    • Perkins AC, Gaensler KM, Orkin SH. Silencing of human fetal globin expression is impaired in the absence of the adult beta-globin gene activator protein EKLF. Proc Natl Acad Sci USA 1996; 93:12267-12271.
    • (1996) Proc Natl Acad Sci USA , vol.93 , pp. 12267-12271
    • Perkins, A.C.1    Gaensler, K.M.2    Orkin, S.H.3
  • 23
    • 79952009920 scopus 로고    scopus 로고
    • KLF1 directly coordinates almost all aspects of terminal erythroid differentiation
    • Tallack MR, Perkins AC. KLF1 directly coordinates almost all aspects of terminal erythroid differentiation. IUBMB Life 2010; 62: 886-890.
    • (2010) IUBMB Life , vol.62 , pp. 886-890
    • Tallack, M.R.1    Perkins, A.C.2
  • 24
    • 80052153840 scopus 로고    scopus 로고
    • The multifunctional role of EKLF/KLF1 during erythropoiesis
    • Siatecka M, Bieker JJ. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood 2011; 118:2044-2054.
    • (2011) Blood , vol.118 , pp. 2044-2054
    • Siatecka, M.1    Bieker, J.J.2
  • 25
    • 0027211845 scopus 로고
    • A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the Krüppel family of nuclear proteins
    • Miller IJ, Bieker JJ. A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the Krüppel family of nuclear proteins. Mol Cell Biol 1993; 13:2776-2786.
    • (1993) Mol Cell Biol , vol.13 , pp. 2776-2786
    • Miller, I.J.1    Bieker, J.J.2
  • 26
    • 0028174097 scopus 로고
    • Analyses of beta-thalassemia mutant DNA interactions with erythroid Kruppel-like factor (EKLF), an erythroid cell-specific transcription factor
    • Feng WC, Southwood CM, Bieker JJ. Analyses of beta-thalassemia mutant DNA interactions with erythroid Kruppel-like factor (EKLF), an erythroid cell-specific transcription factor. J Biol Chem 1994; 269: 1493-1500.
    • (1994) J Biol Chem , vol.269 , pp. 1493-1500
    • Feng, W.C.1    Southwood, C.M.2    Bieker, J.J.3
  • 27
    • 0019949838 scopus 로고
    • Linkage of betathalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster
    • Orkin SH, Kazazian HH Jr, Antonarakis SE, et al. Linkage of betathalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature 1982; 296: 627-631.
    • (1982) Nature , vol.296 , pp. 627-631
    • Orkin, S.H.1    Kazazian Jr., H.H.2    Antonarakis, S.E.3
  • 28
    • 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
  • 29
    • 79953216652 scopus 로고    scopus 로고
    • Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach
    • Giardine B, Borg J, Higgs DR, et al. Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach. Nat Genet 2011; 43:295-301.
    • (2011) Nat Genet , vol.43 , pp. 295-301
    • Giardine, B.1    Borg, J.2    Higgs, D.R.3
  • 30
    • 84857776735 scopus 로고    scopus 로고
    • Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults
    • Gallienne AE, Dreau HMP, Schuh A, et al. Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults. Haematologica 2012; 97:340-343.
    • (2012) Haematologica , vol.97 , pp. 340-343
    • Gallienne, A.E.1    Hmp, D.2    Schuh, A.3
  • 31
    • 79955738088 scopus 로고    scopus 로고
    • Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin
    • Satta S, Perseu L, Moi P, et al. Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin. Haematologica 2011; 96:767-770.
    • (2011) Haematologica , vol.96 , pp. 767-770
    • Satta, S.1    Perseu, L.2    Moi, P.3
  • 32
    • 80054845638 scopus 로고    scopus 로고
    • KLF1 gene mutations cause borderline HbA2
    • Perseu L, Satta S, Demartis FR, et al. KLF1 gene mutations cause borderline HbA2. Blood 2011; 118:4454-4458.
    • (2011) Blood , vol.118 , pp. 4454-4458
    • Perseu, L.1    Satta, S.2    Demartis, F.R.3
  • 33
    • 84855199858 scopus 로고    scopus 로고
    • Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation
    • Satta S, Perseu L, Maccioni L, et al. Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation. Blood Cells Mol Dis 2012; 48:22-24.
    • (2012) Blood Cells Mol Dis , vol.48 , pp. 22-24
    • Satta, S.1    Perseu, L.2    MacCioni, L.3
  • 34
    • 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; 42:801-905.
    • (2010) Nat Genet , vol.42 , pp. 801-905
    • Borg, J.1    Papadopoulos, P.2    Georgitsi, M.3
  • 35
    • 77949803958 scopus 로고    scopus 로고
    • A novel EKLF mutation in a patient with dyserythropoietic anemia: The first association of EKLF with disease in man
    • Abstract 162
    • Singleton BK, Fairweather VSS, Lau W, et al. A novel EKLF mutation in a patient with dyserythropoietic anemia: the first association of EKLF with disease in man. Blood (ASH Annual Meeting Abstracts) 2009; 114:Abstract 162.
    • (2009) Blood (ASH Annual Meeting Abstracts) , vol.114
    • Singleton, B.K.1    Vss, F.2    Lau, W.3
  • 36
    • 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
  • 37
    • 80052919973 scopus 로고    scopus 로고
    • Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes
    • Singleton BK, Lau W, Fairweather VS, et al. Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes. Blood 2011; 118:3137-3145.
    • (2011) Blood , vol.118 , pp. 3137-3145
    • Singleton, B.K.1    Lau, W.2    Fairweather, V.S.3
  • 38
    • 84871896104 scopus 로고    scopus 로고
    • A new case of KLF1 G973A mutation and congenital dyserythropoietic anemia (CDA): Further definition of emerging new syndrome and possible association with gonadal dysgenesis
    • Abstract 2101
    • Ravindranath Y, Goyette G, Buck S, et al. A new case of KLF1 G973A mutation and congenital dyserythropoietic anemia (CDA): further definition of emerging new syndrome and possible association with gonadal dysgenesis. Blood (ASH Annual Meeting Abstracts) 2011; 118:Abstract 2101.
    • (2011) Blood (ASH Annual Meeting Abstracts) , vol.118
    • Ravindranath, Y.1    Goyette, G.2    Buck, S.3
  • 39
    • 84868195640 scopus 로고    scopus 로고
    • Case report of erythroid transcription factor EKLF mutation causing a rare form of congenital dyserythropoietic anemia in a patient of Taiwanese origin
    • Abstract 2154
    • Mitchell WB, Gnanapragasam MN, Jaffray JA, et al. Case report of erythroid transcription factor EKLF mutation causing a rare form of congenital dyserythropoietic anemia in a patient of Taiwanese origin. Blood (ASH Annual Meeting Abstracts) 2011; 118:Abstract 2154.
    • (2011) Blood (ASH Annual Meeting Abstracts) , vol.118
    • Mitchell, W.B.1    Gnanapragasam, M.N.2    Jaffray, J.A.3
  • 40
    • 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, Andersen SG, et al. Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor. Proc Natl Acad Sci USA 2010; 107:15151-15156.
    • (2010) Proc Natl Acad Sci USA , vol.107 , pp. 15151-15156
    • Siatecka, M.1    Sahr, K.E.2    Andersen, S.G.3
  • 41
    • 78649451381 scopus 로고    scopus 로고
    • Mutation in erythroid specific transcription factor KLF1 causes hereditary spherocytosis in the Nan hemolytic anemia mouse model
    • Heruth DP, Hawkins T, Logsdon DP, et al. Mutation in erythroid specific transcription factor KLF1 causes hereditary spherocytosis in the Nan hemolytic 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
  • 42
    • 12344325677 scopus 로고    scopus 로고
    • GATA1 in normal and malignant hematopoiesis
    • Crispino JD. GATA1 in normal and malignant hematopoiesis. Semin Cell Dev Biol 2005; 16:137-147.
    • (2005) Semin Cell Dev Biol , vol.16 , pp. 137-147
    • Crispino, J.D.1
  • 43
    • 13444270650 scopus 로고    scopus 로고
    • GATA1 function, a paradigm for transcription factors in hematopoiesis
    • Ferreira R, Ohneda K, YamamotoM, Philipsen S. GATA1 function, a paradigm for transcription factors in hematopoiesis. Mol Cell Biol 2005; 25:1215-1227.
    • (2005) Mol Cell Biol , vol.25 , pp. 1215-1227
    • Ferreira, R.1    Ohneda, K.2    Yamamoto, M.3    Philipsen, S.4
  • 44
    • 0026691333 scopus 로고
    • GATA-binding transcription factors in hematopoietic cells
    • Orkin SH. GATA-binding transcription factors in hematopoietic cells. Blood 1992; 80:575-581.
    • (1992) Blood , vol.80 , pp. 575-581
    • Orkin, S.H.1
  • 46
    • 0031472234 scopus 로고    scopus 로고
    • FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation
    • Tsang AP, Visvader JE, Turner CA, et al. FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. Cell 1997; 90:109-119.
    • (1997) Cell , vol.90 , pp. 109-119
    • Tsang, A.P.1    Visvader, J.E.2    Turner, C.A.3
  • 47
    • 70449696134 scopus 로고    scopus 로고
    • Erythroid GATA1 function revealed by genome-wide analysis of transcription factor occupancy, histone modifications, and mRNA expression
    • Cheng Y, Wu W, Kumar SA, et al. Erythroid GATA1 function revealed by genome-wide analysis of transcription factor occupancy, histone modifications, and mRNA expression. Genome Res 2009; 19:2172-2184.
    • (2009) Genome Res , vol.19 , pp. 2172-2184
    • Cheng, Y.1    Wu, W.2    Kumar, S.A.3
  • 48
    • 84863264788 scopus 로고    scopus 로고
    • A core erythroid transcriptional network is repressed by a master regulator of myelo-lymphoid differentiation
    • Wontakal SN, Guo X, Smith C, et al. A core erythroid transcriptional network is repressed by a master regulator of myelo-lymphoid differentiation. Proc Natl Acad Sci USA 2012; 109:3832-3837.
    • (2012) Proc Natl Acad Sci USA , vol.109 , pp. 3832-3837
    • Wontakal, S.N.1    Guo, X.2    Smith, C.3
  • 49
    • 84862291307 scopus 로고    scopus 로고
    • N-and C-terminal transactivation domains of GATA1 coordinate the hematopoietic program
    • Kaneko H, Kobayashi E, Yamamoto M, Shimizu R. N-and C-terminal transactivation domains of GATA1 coordinate the hematopoietic program. J Biol Chem 2012; 287:21439-21449.
    • (2012) J Biol Chem , vol.287 , pp. 21439-21449
    • Kaneko, H.1    Kobayashi, E.2    Yamamoto, M.3    Shimizu, R.4
  • 50
    • 0034052854 scopus 로고    scopus 로고
    • Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
    • Nichols KE, Crispino JD, Poncz M, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet 2000; 24:266-270.
    • (2000) Nat Genet , vol.24 , pp. 266-270
    • Nichols, K.E.1    Crispino, J.D.2    Poncz, M.3
  • 51
    • 55149090480 scopus 로고    scopus 로고
    • Human phenotypes associated with GATA-1 mutations
    • Ciovacco WA, Raskind WH, Kacena MA. Human phenotypes associated with GATA-1 mutations. Gene 2008; 427:1-6.
    • (2008) Gene , vol.427 , pp. 1-6
    • Ciovacco, W.A.1    Raskind, W.H.2    Kacena, M.A.3
  • 52
    • 78650331298 scopus 로고    scopus 로고
    • A novel GATA1 mutation (Ter414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype
    • Abstract 1979
    • Singleton BK, Roxby D, Stirling J, et al. A novel GATA1 mutation (Ter414Arg) in a family with the rare X-linked blood group Lu(a-b-) phenotype. Blood (ASH Annual Meeting Abstracts) 2009; 114:Abstract 1979.
    • (2009) Blood (ASH Annual Meeting Abstracts) , vol.114
    • Singleton, B.K.1    Roxby, D.2    Stirling, J.3
  • 53
    • 57849083996 scopus 로고    scopus 로고
    • Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A
    • Sankaran VG, Menne TF, Xu J, et al. Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 2008; 322:1839-1842.
    • (2008) Science , vol.322 , pp. 1839-1842
    • Sankaran, V.G.1    Menne, T.F.2    Xu, J.3
  • 54
    • 77956630402 scopus 로고    scopus 로고
    • KLF1 regulates BCL11A expression and gamma-to beta-globin gene switching
    • Zhou D, Liu K, Sun C-W, et al. KLF1 regulates BCL11A expression and gamma-to beta-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
  • 55
    • 84878021197 scopus 로고    scopus 로고
    • HPFH from Klf1 haploinsufficiency combined to transcriptional heterozygous b-thalassemia
    • Abstract 2151
    • Moi P, MariniGM, Asunis I, et al. HPFH from Klf1 haploinsufficiency combined to transcriptional heterozygous b-thalassemia. Blood (ASH Annual Meeting Abstracts) 2011; 118:Abstract 2151.
    • (2011) Blood (ASH Annual Meeting Abstracts) , vol.118
    • Moi, P.1    Marinigm Asunis, I.2
  • 56
    • 77949846880 scopus 로고    scopus 로고
    • Advances in the understanding of haemoglobin switching
    • Sankaran VG, Xu J, Orkin SH. Advances in the understanding of haemoglobin switching. Br J Haematol 2010; 149:181-194.
    • (2010) Br J Haematol , vol.149 , pp. 181-194
    • Sankaran, V.G.1    Xu, J.2    Orkin, S.H.3
  • 57
    • 84868204214 scopus 로고    scopus 로고
    • Does quantitative heterogeneity of human fetal hemoglobin (HbF) reveal friends or foes of KLF1 in globin gene switching?
    • Abstract 1092
    • Felice AE, Galdies R, Borg J, et al. Does quantitative heterogeneity of human fetal hemoglobin (HbF) reveal friends or foes of KLF1 in globin gene switching? Blood (ASH Annual Meeting Abstracts) 2011; 118:Abstract 1092.
    • (2011) Blood (ASH Annual Meeting Abstracts) , vol.118
    • Felice, A.E.1    Galdies, R.2    Borg, J.3
  • 58
    • 80054872216 scopus 로고    scopus 로고
    • HbA2: At the borderline of the KLF
    • Gallagher PG. HbA2: at the borderline of the KLF. Blood 2011; 118:4301-4302.
    • (2011) Blood , vol.118 , pp. 4301-4302
    • Gallagher, P.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.