-
1
-
-
52649088204
-
Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype
-
Singleton BK, Burton NM, Green C, Brady RL, Anstee DJ. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. Blood. 2008;112(5):2081-2088.
-
(2008)
Blood
, vol.112
, Issue.5
, pp. 2081-2088
-
-
Singleton, B.K.1
Burton, N.M.2
Green, C.3
Brady, R.L.4
Anstee, D.J.5
-
2
-
-
77956622584
-
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(9):801-805.
-
(2010)
Nat Genet
, vol.42
, Issue.9
, pp. 801-805
-
-
Borg, J.1
Papadopoulos, P.2
Georgitsi, M.3
-
3
-
-
78249264453
-
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(5):721-727.
-
(2010)
Am J Hum Genet
, vol.87
, Issue.5
, pp. 721-727
-
-
Arnaud, L.1
Saison, C.2
Helias, V.3
-
4
-
-
84897515773
-
Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression
-
Viprakasit V, Ekwattanakit S, Riolueang S, et al. Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. Blood. 2014;123(10):1586-1595.
-
(2014)
Blood
, vol.123
, Issue.10
, pp. 1586-1595
-
-
Viprakasit, V.1
Ekwattanakit, S.2
Riolueang, S.3
-
5
-
-
84878406576
-
Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: Review of all reported cases and development of a clinical diagnostic paradigm
-
Jaffray JA, Mitchell WB, Gnanapragasam MN, et al. Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm. Blood Cells Mol Dis. 2013;51(2):71-75.
-
(2013)
Blood Cells Mol Dis
, vol.51
, Issue.2
, pp. 71-75
-
-
Jaffray, J.A.1
Mitchell, W.B.2
Gnanapragasam, M.N.3
-
6
-
-
84927663453
-
KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome
-
Magor GW, Tallack MR, Gillinder KR, et al. KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome. Blood. 2015;125(15):2405-2417.
-
(2015)
Blood
, vol.125
, Issue.15
, pp. 2405-2417
-
-
Magor, G.W.1
Tallack, M.R.2
Gillinder, K.R.3
-
7
-
-
84905114321
-
KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia
-
Liu D, Zhang X, Yu L, et al. KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia. Blood. 2014;124(5):803-811.
-
(2014)
Blood
, vol.124
, Issue.5
, pp. 803-811
-
-
Liu, D.1
Zhang, X.2
Yu, L.3
-
8
-
-
80054845638
-
KLF1 gene mutations cause borderline HbA(2)
-
Perseu L, Satta S, Moi P, et al. KLF1 gene mutations cause borderline HbA(2). Blood. 2011;118(16):4454-4458.
-
(2011)
Blood
, vol.118
, Issue.16
, pp. 4454-4458
-
-
Perseu, L.1
Satta, S.2
Moi, P.3
-
9
-
-
42049110421
-
Genetic variation and susceptibility to infection: The red cell and malaria
-
Weatherall DJ. Genetic variation and susceptibility to infection: the red cell and malaria. Br J Haematol. 2008;141(3):276-286.
-
(2008)
Br J Haematol
, vol.141
, Issue.3
, pp. 276-286
-
-
Weatherall, D.J.1
-
10
-
-
0027211845
-
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(5):2776-2786.
-
(1993)
Mol Cell Biol
, vol.13
, Issue.5
, pp. 2776-2786
-
-
Miller, I.J.1
Bieker, J.J.2
-
11
-
-
0029010790
-
Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene
-
Nuez B, Michalovich D, Bygrave A, Ploemacher R, Grosveld F. Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene. Nature. 1995;375(6529):316-318.
-
(1995)
Nature
, vol.375
, Issue.6529
, pp. 316-318
-
-
Nuez, B.1
Michalovich, D.2
Bygrave, A.3
Ploemacher, R.4
Grosveld, F.5
-
12
-
-
0028990264
-
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(6529):318-322.
-
(1995)
Nature
, vol.375
, Issue.6529
, pp. 318-322
-
-
Perkins, A.C.1
Sharpe, A.H.2
Orkin, S.H.3
-
13
-
-
0034161376
-
Fetal expression of a human Agamma globin transgene rescues globin chain imbalance but not hemolysis in EKLF null mouse embryos
-
Perkins AC, Peterson KR, Stamatoyannopoulos G, Witkowska HE, Orkin SH. Fetal expression of a human Agamma globin transgene rescues globin chain imbalance but not hemolysis in EKLF null mouse embryos. Blood. 2000;95(5):1827-1833.
-
(2000)
Blood
, vol.95
, Issue.5
, pp. 1827-1833
-
-
Perkins, A.C.1
Peterson, K.R.2
Stamatoyannopoulos, G.3
Witkowska, H.E.4
Orkin, S.H.5
-
14
-
-
20344364878
-
The erythroid phenotype of EKLF-null mice: Defects in hemoglobin metabolism and membrane stability
-
Drissen R, von Lindern M, Kolbus A, et al. The erythroid phenotype of EKLF-null mice: defects in hemoglobin metabolism and membrane stability. Mol Cell Biol. 2005;25(12):5205-5214.
-
(2005)
Mol Cell Biol
, vol.25
, Issue.12
, pp. 5205-5214
-
-
Drissen, R.1
Von Lindern, M.2
Kolbus, A.3
-
15
-
-
33645743530
-
A global role for EKLF in definitive and primitive erythropoiesis
-
Hodge D, Coghill E, Keys J, et al. A global role for EKLF in definitive and primitive erythropoiesis. Blood. 2006;107(8):3359-3370.
-
(2006)
Blood
, vol.107
, Issue.8
, pp. 3359-3370
-
-
Hodge, D.1
Coghill, E.2
Keys, J.3
-
16
-
-
57349110597
-
Failure of terminal erythroid differentiation in EKLF-deficient mice is associated with cell cycle perturbation and reduced expression of E2F2
-
Pilon AM, Arcasoy MO, Dressman HK, et al. Failure of terminal erythroid differentiation in EKLF-deficient mice is associated with cell cycle perturbation and reduced expression of E2F2. Mol Cell Biol. 2008;28(24):7394-7401.
-
(2008)
Mol Cell Biol
, vol.28
, Issue.24
, pp. 7394-7401
-
-
Pilon, A.M.1
Arcasoy, M.O.2
Dressman, H.K.3
-
17
-
-
33646873303
-
Alterations in expression and chromatin configuration of the alpha hemoglobin-stabilizing protein gene in erythroid Kruppel-like factor-deficient mice
-
Pilon AM, Nilson DG, Zhou D, et al. Alterations in expression and chromatin configuration of the alpha hemoglobin-stabilizing protein gene in erythroid Kruppel-like factor-deficient mice. Mol Cell Biol. 2006;26(11):4368-4377.
-
(2006)
Mol Cell Biol
, vol.26
, Issue.11
, pp. 4368-4377
-
-
Pilon, A.M.1
Nilson, D.G.2
Zhou, D.3
-
18
-
-
84870543736
-
Novel roles for KLF1 in erythropoiesis revealed by mRNA-seq
-
Tallack MR, Magor GW, Dartigues B, et al. Novel roles for KLF1 in erythropoiesis revealed by mRNA-seq. Genome Res. 2012;22(12):2385-2398.
-
(2012)
Genome Res
, vol.22
, Issue.12
, pp. 2385-2398
-
-
Tallack, M.R.1
Magor, G.W.2
Dartigues, B.3
-
19
-
-
79952009920
-
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(12):886-890.
-
(2010)
IUBMB Life
, vol.62
, Issue.12
, pp. 886-890
-
-
Tallack, M.R.1
Perkins, A.C.2
-
20
-
-
80053559720
-
Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation
-
NISC Comparative Sequencing Center
-
Pilon AM, Ajay SS, Kumar SA, et al; NISC Comparative Sequencing Center. Genome-wide ChIP-Seq reveals a dramatic shift in the binding of the transcription factor erythroid Kruppel-like factor during erythrocyte differentiation. Blood. 2011;118(17):e139-e148.
-
(2011)
Blood
, vol.118
, Issue.17
, pp. e139-e148
-
-
Pilon, A.M.1
Ajay, S.S.2
Kumar, S.A.3
-
21
-
-
77955155544
-
A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells
-
Tallack MR, Whitington T, Yuen WS, et al. A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells. Genome Res. 2010;20(8):1052-1063.
-
(2010)
Genome Res
, vol.20
, Issue.8
, pp. 1052-1063
-
-
Tallack, M.R.1
Whitington, T.2
Yuen, W.S.3
-
22
-
-
55249115567
-
A network of Krüppel-like Factors (Klfs). Klf8 is repressed by Klf3 and activated by Klf1 in vivo
-
Eaton SA, Funnell AP, Sue N, Nicholas H, Pearson RC, Crossley M. A network of Krüppel-like Factors (Klfs). Klf8 is repressed by Klf3 and activated by Klf1 in vivo. J Biol Chem. 2008;283(40):26937-26947.
-
(2008)
J Biol Chem.
, vol.283
, Issue.40
, pp. 26937-26947
-
-
Eaton, S.A.1
Funnell, A.P.2
Sue, N.3
Nicholas, H.4
Pearson, R.C.5
Crossley, M.6
-
23
-
-
84876298874
-
Three fingers on the switch: Krüppel-like factor 1 regulation of γ-globin to β-globin gene switching
-
Tallack MR, Perkins AC. Three fingers on the switch: Krüppel-like factor 1 regulation of γ-globin to β-globin gene switching. Curr Opin Hematol. 2013;20(3):193-200.
-
(2013)
Curr Opin Hematol
, vol.20
, Issue.3
, pp. 193-200
-
-
Tallack, M.R.1
Perkins, A.C.2
-
24
-
-
84880682265
-
Generation of mice deficient in both KLF3/BKLF and KLF8 reveals a genetic interaction and a role for these factors in embryonic globin gene silencing
-
Funnell AP, Mak KS, Twine NA, et al. Generation of mice deficient in both KLF3/BKLF and KLF8 reveals a genetic interaction and a role for these factors in embryonic globin gene silencing. Mol Cell Biol. 2013;33(15):2976-2987.
-
(2013)
Mol Cell Biol
, vol.33
, Issue.15
, pp. 2976-2987
-
-
Funnell, A.P.1
Mak, K.S.2
Twine, N.A.3
-
25
-
-
34147200288
-
Erythroid Krüppel-like factor directly activates the basic Krüppel-like factor gene in erythroid cells
-
Funnell AP, Maloney CA, Thompson LJ, et al. Erythroid Krüppel-like factor directly activates the basic Krüppel-like factor gene in erythroid cells. Mol Cell Biol. 2007;27(7):2777-2790.
-
(2007)
Mol Cell Biol
, vol.27
, Issue.7
, pp. 2777-2790
-
-
Funnell, A.P.1
Maloney, C.A.2
Thompson, L.J.3
-
26
-
-
79960600766
-
Structural and functional characterization of an atypical activation domain in erythroid Kruppel-like factor (EKLF)
-
Mas C, Lussier-Price M, Soni S, et al. Structural and functional characterization of an atypical activation domain in erythroid Kruppel-like factor (EKLF). Proc Natl Acad Sci USA. 2011;108(26):10484-10489.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, Issue.26
, pp. 10484-10489
-
-
Mas, C.1
Lussier-Price, M.2
Soni, S.3
-
27
-
-
84887404373
-
Structural characterization of a noncovalent complex between ubiquitin and the transactivation domain of the erythroid-specific factor EKLF
-
Raiola L, Lussier-Price M, Gagnon D, et al. Structural characterization of a noncovalent complex between ubiquitin and the transactivation domain of the erythroid-specific factor EKLF. Structure. 2013;21(11):2014-2024.
-
(2013)
Structure
, vol.21
, Issue.11
, pp. 2014-2024
-
-
Raiola, L.1
Lussier-Price, M.2
Gagnon, D.3
-
28
-
-
40949086353
-
Non-random subcellular distribution of variant EKLF in erythroid cells
-
Quadrini KJ, Gruzglin E, Bieker JJ. Non-random subcellular distribution of variant EKLF in erythroid cells. Exp Cell Res. 2008;314(7):1595-1604.
-
(2008)
Exp Cell Res
, vol.314
, Issue.7
, pp. 1595-1604
-
-
Quadrini, K.J.1
Gruzglin, E.2
Bieker, J.J.3
-
29
-
-
73349090560
-
Preferential associations between co-regulated genes reveal a transcriptional interactome in erythroid cells
-
Schoenfelder S, Sexton T, Chakalova L, et al. Preferential associations between co-regulated genes reveal a transcriptional interactome in erythroid cells. Nat Genet. 2010;42(1):53-61.
-
(2010)
Nat Genet
, vol.42
, Issue.1
, pp. 53-61
-
-
Schoenfelder, S.1
Sexton, T.2
Chakalova, L.3
-
30
-
-
84894304557
-
Tight regulation of a timed nuclear import wave of EKLF by PKCθ and FOE during Pro-E to Baso-E transition
-
Shyu YC, Lee TL, Chen X, et al. Tight regulation of a timed nuclear import wave of EKLF by PKCθ and FOE during Pro-E to Baso-E transition. Dev Cell. 2014;28(4):409-422.
-
(2014)
Dev Cell
, vol.28
, Issue.4
, pp. 409-422
-
-
Shyu, Y.C.1
Lee, T.L.2
Chen, X.3
-
31
-
-
0032544123
-
Acetylation and modulation of erythroid Krüppel-like factor (EKLF) activity by interaction with histone acetyltransferases
-
Zhang W, Bieker JJ. Acetylation and modulation of erythroid Krüppel-like factor (EKLF) activity by interaction with histone acetyltransferases. Proc Natl Acad Sci USA. 1998;95(17):9855-9860.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, Issue.17
, pp. 9855-9860
-
-
Zhang, W.1
Bieker, J.J.2
-
32
-
-
84907222983
-
Transcription factor EKLF (KLF1) recruitment of the histone chaperone HIRA is essential for β-globin gene expression
-
Soni S, Pchelintsev N, Adams PD, Bieker JJ. Transcription factor EKLF (KLF1) recruitment of the histone chaperone HIRA is essential for β-globin gene expression. Proc Natl Acad Sci USA. 2014;111(37):13337-13342.
-
(2014)
Proc Natl Acad Sci USA
, vol.111
, Issue.37
, pp. 13337-13342
-
-
Soni, S.1
Pchelintsev, N.2
Adams, P.D.3
Bieker, J.J.4
-
33
-
-
0032475845
-
A SWI/SNF-related chromatin remodeling complex, ERC1, is required for tissue-specific transcriptional regulation by EKLF in vitro
-
Armstrong JA, Bieker JJ, Emerson BMA. A SWI/SNF-related chromatin remodeling complex, ERC1, is required for tissue-specific transcriptional regulation by EKLF in vitro. Cell. 1998;95(1):93-104.
-
(1998)
Cell
, vol.95
, Issue.1
, pp. 93-104
-
-
Armstrong, J.A.1
Bieker, J.J.2
Emerson, B.M.A.3
-
34
-
-
0035099483
-
Site-specific acetylation by p300 or CREB binding protein regulates erythroid Krüppel-like factor transcriptional activity via its interaction with the SWI-SNF complex
-
Zhang W, Kadam S, Emerson BM, Bieker JJ. Site-specific acetylation by p300 or CREB binding protein regulates erythroid Krüppel-like factor transcriptional activity via its interaction with the SWI-SNF complex. Mol Cell Biol. 2001;21(7):2413-2422.
-
(2001)
Mol Cell Biol
, vol.21
, Issue.7
, pp. 2413-2422
-
-
Zhang, W.1
Kadam, S.2
Emerson, B.M.3
Bieker, J.J.4
-
35
-
-
0035048250
-
Unanticipated repression function linked to erythroid Krüppel-like factor
-
Chen X, Bieker JJ. Unanticipated repression function linked to erythroid Krüppel-like factor. Mol Cell Biol. 2001;21(9):3118-3125.
-
(2001)
Mol Cell Biol
, vol.21
, Issue.9
, pp. 3118-3125
-
-
Chen, X.1
Bieker, J.J.2
-
36
-
-
37049035381
-
Novel role for EKLF in megakaryocyte lineage commitment
-
Frontelo P, Manwani D, Galdass M, et al. Novel role for EKLF in megakaryocyte lineage commitment. Blood. 2007;110(12):3871-3880.
-
(2007)
Blood
, vol.110
, Issue.12
, pp. 3871-3880
-
-
Frontelo, P.1
Manwani, D.2
Galdass, M.3
-
37
-
-
37549066702
-
Sumoylation of EKLF promotes transcriptional repression and is involved in inhibition of megakaryopoiesis
-
Siatecka M, Xue L, Bieker JJ. Sumoylation of EKLF promotes transcriptional repression and is involved in inhibition of megakaryopoiesis. Mol Cell Biol. 2007;27(24):8547-8560.
-
(2007)
Mol Cell Biol
, vol.27
, Issue.24
, pp. 8547-8560
-
-
Siatecka, M.1
Xue, L.2
Bieker, J.J.3
-
38
-
-
84871588416
-
Molecular analysis of the rare in(Lu) blood type: Toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1
-
Helias V, Saison C, Peyrard T, et al. Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1. Hum Mutat. 2013;34(1):221-228.
-
(2013)
Hum Mutat
, vol.34
, Issue.1
, pp. 221-228
-
-
Helias, V.1
Saison, C.2
Peyrard, T.3
-
39
-
-
68949094072
-
EKLF/KLF1 controls cell cycle entry via direct regulation of E2f2
-
Tallack MR, Keys JR, Humbert PO, Perkins AC. EKLF/KLF1 controls cell cycle entry via direct regulation of E2f2. J Biol Chem. 2009;284(31):20966-20974.
-
(2009)
J Biol Chem
, vol.284
, Issue.31
, pp. 20966-20974
-
-
Tallack, M.R.1
Keys, J.R.2
Humbert, P.O.3
Perkins, A.C.4
-
40
-
-
33646675621
-
Major erythrocyte membrane protein genes in EKLF-deficient mice
-
Nilson DG, Sabatino DE, Bodine DM, Gallagher PG. Major erythrocyte membrane protein genes in EKLF-deficient mice. Exp Hematol. 2006;34(6):705-712.
-
(2006)
Exp Hematol
, vol.34
, Issue.6
, pp. 705-712
-
-
Nilson, D.G.1
Sabatino, D.E.2
Bodine, D.M.3
Gallagher, P.G.4
-
41
-
-
0030608774
-
Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: Influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter
-
Huisman TH. Levels of Hb A2 in heterozygotes and homozygotes for beta-thalassemia mutations: influence of mutations in the CACCC and ATAAA motifs of the beta-globin gene promoter. Acta Haematol. 1997;98(4):187-194.
-
(1997)
Acta Haematol
, vol.98
, Issue.4
, pp. 187-194
-
-
Huisman, T.H.1
-
42
-
-
0019949838
-
Linkage of beta-thalassaemia 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 beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster. Nature. 1982;296(5858):627-631.
-
(1982)
Nature
, vol.296
, Issue.5858
, pp. 627-631
-
-
Orkin, S.H.1
Kazazian, H.H.2
Antonarakis, S.E.3
-
43
-
-
0028174097
-
Analyses of beta-thalassemia mutant DNA interactions with erythroid Krüppel-like factor (EKLF), an erythroid cell-specific transcription factor
-
Feng WC, Southwood CM, Bieker JJ. Analyses of beta-thalassemia mutant DNA interactions with erythroid Krüppel-like factor (EKLF), an erythroid cell-specific transcription factor. J Biol Chem. 1994;269(2):1493-1500.
-
(1994)
J Biol Chem
, vol.269
, Issue.2
, pp. 1493-1500
-
-
Feng, W.C.1
Southwood, C.M.2
Bieker, J.J.3
-
44
-
-
0028936440
-
Role of erythroid Kruppel-like factor in human gamma- to beta-globin gene switching
-
Donze D, Townes TM, Bieker JJ. Role of erythroid Kruppel-like factor in human gamma- to beta-globin gene switching. J Biol Chem. 1995;270(4):1955-1959.
-
(1995)
J Biol Chem
, vol.270
, Issue.4
, pp. 1955-1959
-
-
Donze, D.1
Townes, T.M.2
Bieker, J.J.3
-
45
-
-
0029829779
-
The role of EKLF in human beta-globin gene competition
-
Wijgerde M, Gribnau J, Trimborn T, et al. The role of EKLF in human beta-globin gene competition. Genes Dev. 1996;10(22):2894-2902.
-
(1996)
Genes Dev
, vol.10
, Issue.22
, pp. 2894-2902
-
-
Wijgerde, M.1
Gribnau, J.2
Trimborn, T.3
-
46
-
-
0029861514
-
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(22):12267-12271.
-
(1996)
Proc Natl Acad Sci USA
, vol.93
, Issue.22
, pp. 12267-12271
-
-
Perkins, A.C.1
Gaensler, K.M.2
Orkin, S.H.3
-
47
-
-
79955738088
-
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(5):767-770.
-
(2011)
Haematologica
, vol.96
, Issue.5
, pp. 767-770
-
-
Satta, S.1
Perseu, L.2
Moi, P.3
-
48
-
-
0025777524
-
Percentile curves for red cell indices of beta zero-thalassaemia heterozygotes in infancy and childhood
-
Galanello R, Lilliu F, Bertolino F, Cao A. Percentile curves for red cell indices of beta zero-thalassaemia heterozygotes in infancy and childhood. Eur J Pediatr. 1991;150(6):413-415.
-
(1991)
Eur J Pediatr
, vol.150
, Issue.6
, pp. 413-415
-
-
Galanello, R.1
Lilliu, F.2
Bertolino, F.3
Cao, A.4
-
49
-
-
84867039289
-
Regulation of delta-aminolevulinic acid dehydratase by krüppel-like factor 1
-
Desgardin AD, Abramova T, Rosanwo TO, et al. Regulation of delta-aminolevulinic acid dehydratase by krüppel-like factor 1. PLoS One. 2012;7(10):e46482.
-
(2012)
PLoS One
, vol.7
, Issue.10
-
-
Desgardin, A.D.1
Abramova, T.2
Rosanwo, T.O.3
-
50
-
-
84944167274
-
Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin
-
Huang J, Zhang X, Liu D, et al. Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. Eur J Hum Genet. 2015;23(10):1341-1348.
-
(2015)
Eur J Hum Genet
, vol.23
, Issue.10
, pp. 1341-1348
-
-
Huang, J.1
Zhang, X.2
Liu, D.3
-
51
-
-
77949803958
-
A novel EKLF mutation in a patient with dyserythropoietic anemia: The first association of EKLF with disease in man
-
abstract
-
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 [abstract]. Blood. 2009;114(22). Abstract 162.
-
(2009)
Blood
, vol.114
, Issue.22
-
-
Singleton, B.K.1
Fairweather, V.S.S.2
Lau, W.3
-
52
-
-
78649451381
-
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(5):303-307.
-
(2010)
Genomics
, vol.96
, Issue.5
, pp. 303-307
-
-
Heruth, D.P.1
Hawkins, T.2
Logsdon, D.P.3
-
53
-
-
77957016122
-
Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor
-
Siatecka M, Sahr KE, Andersen SG, Mezei M, Bieker JJ, Peters LL. Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor. Proc Natl Acad Sci USA. 2010;107(34):15151-15156.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.34
, pp. 15151-15156
-
-
Siatecka, M.1
Sahr, K.E.2
Andersen, S.G.3
Mezei, M.4
Bieker, J.J.5
Peters, L.L.6
-
54
-
-
84855199858
-
Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation
-
Satta S, Perseu L, Maccioni L, Giagu N, Galanello R. Delayed fetal hemoglobin switching in subjects with KLF1 gene mutation. Blood Cells Mol Dis. 2012;48(1):22-24.
-
(2012)
Blood Cells Mol Dis
, vol.48
, Issue.1
, pp. 22-24
-
-
Satta, S.1
Perseu, L.2
Maccioni, L.3
Giagu, N.4
Galanello, R.5
-
55
-
-
84930413207
-
Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations
-
Yu LH, Liu D, Cai R, et al. Changes in hematological parameters in α-thalassemia individuals co-inherited with erythroid Krüppel-like factor mutations. Clin Genet. 2015;88(1):56-61.
-
(2015)
Clin Genet
, vol.88
, Issue.1
, pp. 56-61
-
-
Yu, L.H.1
Liu, D.2
Cai, R.3
-
56
-
-
84928548853
-
A new Krüppel-like factor 1 mutation (c.947G > A or p.C316Y) in humans causes β-thalassemia minor
-
Nitta T, Kawano F, Yamashiro Y, et al. A new Krüppel-like factor 1 mutation (c.947G > A or p.C316Y) in humans causes β-thalassemia minor. Hemoglobin. 2015;39(2):121-126.
-
(2015)
Hemoglobin
, vol.39
, Issue.2
, pp. 121-126
-
-
Nitta, T.1
Kawano, F.2
Yamashiro, Y.3
-
57
-
-
84937511908
-
Krüppel-like factor 1 mutations and expression of hemoglobins F and A2 in homozygous hemoglobin E syndrome
-
Tepakhan W, Yamsri S, Fucharoen G, Sanchaisuriya K, Fucharoen S. Krüppel-like factor 1 mutations and expression of hemoglobins F and A2 in homozygous hemoglobin E syndrome. Ann Hematol. 2015;94(7):1093-1098.
-
(2015)
Ann Hematol
, vol.94
, Issue.7
, pp. 1093-1098
-
-
Tepakhan, W.1
Yamsri, S.2
Fucharoen, G.3
Sanchaisuriya, K.4
Fucharoen, S.5
-
58
-
-
84857776735
-
Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults
-
Gallienne AE, Dréau HM, Schuh A, Old JM, Henderson S. Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults. Haematologica. 2012;97(3):340-343.
-
(2012)
Haematologica
, vol.97
, Issue.3
, pp. 340-343
-
-
Gallienne, A.E.1
Dréau, H.M.2
Schuh, A.3
Old, J.M.4
Henderson, S.5
-
59
-
-
0035320886
-
Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias
-
Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001;2(4):245-255.
-
(2001)
Nat Rev Genet
, vol.2
, Issue.4
, pp. 245-255
-
-
Weatherall, D.J.1
-
60
-
-
84891800625
-
Updates of the HbVar database of human hemoglobin variants and thalassemia mutations
-
Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063-D1069.
-
(2014)
Nucleic Acids Res
, vol.42
, Issue.DATABASE ISSUE
, pp. D1063-D1069
-
-
Giardine, B.1
Borg, J.2
Viennas, E.3
-
61
-
-
79953216652
-
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(4):295-301.
-
(2011)
Nat Genet
, vol.43
, Issue.4
, pp. 295-301
-
-
Giardine, B.1
Borg, J.2
Higgs, D.R.3
-
62
-
-
80052153840
-
The multifunctional role of EKLF/KLF1 during erythropoiesis
-
Siatecka M, Bieker JJ. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood. 2011;118(8):2044-2054.
-
(2011)
Blood
, vol.118
, Issue.8
, pp. 2044-2054
-
-
Siatecka, M.1
Bieker, J.J.2
-
63
-
-
84922753486
-
Identification of novel hypomorphic and null mutations in Klf1 derived from a genetic screen for modifiers of α-globin transgene variegation
-
Sorolla A, Tallack MR, Oey H, et al. Identification of novel hypomorphic and null mutations in Klf1 derived from a genetic screen for modifiers of α-globin transgene variegation. Genomics. 2015;105(2):116-122.
-
(2015)
Genomics
, vol.105
, Issue.2
, pp. 116-122
-
-
Sorolla, A.1
Tallack, M.R.2
Oey, H.3
-
64
-
-
84877103949
-
Generation of gene-modified mice via Cas9/RNA-mediated gene targeting
-
Shen B, Zhang J, Wu H, et al. Generation of gene-modified mice via Cas9/RNA-mediated gene targeting. Cell Res. 2013;23(5):720-723.
-
(2013)
Cell Res
, vol.23
, Issue.5
, pp. 720-723
-
-
Shen, B.1
Zhang, J.2
Wu, H.3
-
65
-
-
84877707375
-
One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering
-
Wang H, Yang H, Shivalila CS, et al. One-step generation of mice carrying mutations in multiple genes by CRISPR/Cas-mediated genome engineering. Cell. 2013;153(4):910-918.
-
(2013)
Cell
, vol.153
, Issue.4
, pp. 910-918
-
-
Wang, H.1
Yang, H.2
Shivalila, C.S.3
|