-
1
-
-
84878995335
-
The molecular basis of β-thalassemia
-
Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
-
(2013)
Cold Spring Harb Perspect Med
, vol.3
, Issue.5
-
-
Thein, S.L.1
-
3
-
-
84877135776
-
The search for genetic modifiers of disease severity in the β-hemoglobinopathies
-
Lettre G. The search for genetic modifiers of disease severity in the β-hemoglobinopathies. Cold Spring Harb Perspect Med. 2012;2(10):a015032.
-
(2012)
Cold Spring Harb Perspect Med
, vol.2
, Issue.10
-
-
Lettre, G.1
-
4
-
-
84900011843
-
Genetic association studies in β-hemoglobinopathies
-
Thein SL. Genetic association studies in β-hemoglobinopathies. Hematology Am Soc Hematol Educ Program. 2013;2013:354-361.
-
(2013)
Hematology Am Soc Hematol Educ Program
, vol.2013
, pp. 354-361
-
-
Thein, S.L.1
-
5
-
-
78649469071
-
Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation
-
Galarneau G, Palmer CD, Sankaran VG, Orkin SH, Hirschhorn JN, Lettre G. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet. 2010;42(12):1049-1051.
-
(2010)
Nat Genet
, vol.42
, Issue.12
, pp. 1049-1051
-
-
Galarneau, G.1
Palmer, C.D.2
Sankaran, V.G.3
Orkin, S.H.4
Hirschhorn, J.N.5
Lettre, G.6
-
6
-
-
1942425504
-
Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia
-
DOI 10.1182/blood-2003-11-3957
-
Viprakasit V, Tanphaichitr VS, Chinchang W, Sangkla P, Weiss MJ, Higgs DR. Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. Blood. 2004;103(9):3296-3299. (Pubitemid 38525654)
-
(2004)
Blood
, vol.103
, Issue.9
, pp. 3296-3299
-
-
Viprakasit, V.1
Tanphaichitr, V.S.2
Chinchang, W.3
Sangkla, P.4
Weiss, M.J.5
Higgs, D.R.6
-
7
-
-
20444464807
-
Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia
-
DOI 10.1172/JCI24141
-
Han AP, Fleming MD, Chen JJ. Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia. J Clin Invest. 2005;115(6):1562-1570. (Pubitemid 40814664)
-
(2005)
Journal of Clinical Investigation
, vol.115
, Issue.6
, pp. 1562-1570
-
-
Han, A.-P.1
Fleming, M.D.2
Chen, J.-J.3
-
8
-
-
70449719115
-
Amelioration of Sardinian beta0 thalassemia by genetic modifiers
-
Galanello R, Sanna S, Perseu L, et al. Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood. 2009;114(18):3935-3937.
-
(2009)
Blood
, vol.114
, Issue.18
, pp. 3935-3937
-
-
Galanello, R.1
Sanna, S.2
Perseu, L.3
-
10
-
-
77956630402
-
KLF1 regulates BCL11A expression and gammato beta-globin gene switching
-
Zhou D, Liu K, Sun CW, Pawlik KM, Townes TM. KLF1 regulates BCL11A expression and gammato beta-globin gene switching. Nat Genet. 2010;42(9):742-744.
-
(2010)
Nat Genet
, vol.42
, Issue.9
, pp. 742-744
-
-
Zhou, D.1
Liu, K.2
Sun, C.W.3
Pawlik, K.M.4
Townes, T.M.5
-
11
-
-
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
-
12
-
-
84897515773
-
Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression
-
Epub ahead of print
-
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. [Epub ahead of print].
-
(2014)
Blood
, vol.123
, Issue.10
, pp. 1586-1595
-
-
Viprakasit, V.1
Ekwattanakit, S.2
Riolueang, S.3
-
13
-
-
80052919973
-
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(11):3137-3145.
-
(2011)
Blood
, vol.118
, Issue.11
, pp. 3137-3145
-
-
Singleton, B.K.1
Lau, W.2
Fairweather, V.S.3
-
14
-
-
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
-
15
-
-
79955732301
-
Erythroid phenotypes associated with KLF1 mutations
-
Borg J, Patrinos GP, Felice AE, Philipsen S. Erythroid phenotypes associated with KLF1 mutations. Haematologica. 2011;96(5):635-638.
-
(2011)
Haematologica
, vol.96
, Issue.5
, pp. 635-638
-
-
Borg, J.1
Patrinos, G.P.2
Felice, A.E.3
Philipsen, S.4
-
16
-
-
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
-
17
-
-
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
-
18
-
-
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
-
19
-
-
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
-
20
-
-
79951677170
-
Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China
-
Xiong F, Sun M, Zhang X, et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang Autonomous Region of southern China. Clin Genet. 2010;78(2):139-148.
-
(2010)
Clin Genet
, vol.78
, Issue.2
, pp. 139-148
-
-
Xiong, F.1
Sun, M.2
Zhang, X.3
-
21
-
-
2442556148
-
The prevalence and spectrum of a and b thalassaemia in Guangdong Province: Implications for the future health burden and population screening
-
DOI 10.1136/jcp.2003.014456
-
Xu XM, Zhou YQ, Luo GX, et al. The prevalence and spectrum of a and b thalassaemia in Guangdong Province: implications for the future health burden and population screening. J Clin Pathol. 2004;57(5):517-522. (Pubitemid 38621798)
-
(2004)
Journal of Clinical Pathology
, vol.57
, Issue.5
, pp. 517-522
-
-
Xu, X.M.1
Zhou, Y.Q.2
Luo, G.X.3
Liao, C.4
Zhou, M.5
Chen, P.Y.6
Lu, J.P.7
Jia, S.Q.8
Xiao, G.F.9
Shen, X.10
Li, J.11
Chen, H.P.12
Xia, Y.Y.13
Wen, Y.X.14
Mo, Q.H.15
Li, W.D.16
Li, Y.Y.17
Zhuo, L.W.18
Wang, Z.Q.19
Chen, Y.J.20
Qin, C.H.21
Zhong, M.22
more..
-
22
-
-
0035320886
-
Phenotype-genotype relationships in monogenic disease: Lessons from the thalassaemias
-
DOI 10.1038/35066048
-
Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001;2(4):245-255. (Pubitemid 33674773)
-
(2001)
Nature Reviews Genetics
, vol.2
, Issue.4
, pp. 245-255
-
-
Weatherall, D.J.1
-
24
-
-
77952378224
-
Complications and treatment of patients with β-thalassemia in France: Results of the National Registry
-
Thuret I, Pondarré C, Loundou A, et al. Complications and treatment of patients with β-thalassemia in France: results of the National Registry. Haematologica. 2010;95(5):724-729.
-
(2010)
Haematologica
, vol.95
, Issue.5
, pp. 724-729
-
-
Thuret, I.1
Pondarré, C.2
Loundou, A.3
-
25
-
-
0022006714
-
DNA sequence variation associated with elevated fetal (G)gamma globin production
-
Gilman JG, Huisman TH. DNA sequence variation associated with elevated fetal G gamma globin production. Blood. 1985;66(4):783-787. (Pubitemid 15242459)
-
(1985)
Blood
, vol.66
, Issue.4
, pp. 783-787
-
-
Gilman, J.G.1
Huisman, T.H.J.2
-
26
-
-
40349092939
-
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia
-
DOI 10.1073/pnas.0711566105
-
Uda M, Galanello R, Sanna S, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia. Proc Natl Acad Sci U S A. 2008;105(5):1620- 1625. (Pubitemid 351346564)
-
(2008)
Proceedings of the National Academy of Sciences of the United States of America
, vol.105
, Issue.5
, pp. 1620-1625
-
-
Uda, M.1
Galanello, R.2
Sanna, S.3
Lettre, G.4
Sankaran, V.G.5
Chen, W.6
Usala, G.7
Busonero, F.8
Maschio, A.9
Albai, G.10
Piras, M.G.11
Sestu, N.12
Lai, S.13
Dei, M.14
Mulas, A.15
Crisponi, L.16
Naitza, S.17
Asunis, I.18
Deiana, M.19
Nagaraja, R.20
Perseu, L.21
Satta, S.22
Cipollina, M.D.23
Sollaino, C.24
Moi, P.25
Hirschhorn, J.N.26
Orkin, S.H.27
Abecasis, G.R.28
Schlessinger, D.29
Cao, A.30
more..
-
27
-
-
34748864128
-
A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
-
DOI 10.1038/ng2108, PII NG2108
-
Menzel S, Garner C, Gut I, et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nat Genet. 2007;39(10):1197-1199. (Pubitemid 47482679)
-
(2007)
Nature Genetics
, vol.39
, Issue.10
, pp. 1197-1199
-
-
Menzel, S.1
Garner, C.2
Gut, I.3
Matsuda, F.4
Yamaguchi, M.5
Heath, S.6
Foglio, M.7
Zelenika, D.8
Boland, A.9
Rooks, H.10
Best, S.11
Spector, T.D.12
Farrall, M.13
Lathrop, M.14
Thein, S.L.15
-
28
-
-
79955977896
-
A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression
-
Farrell JJ, Sherva RM, Chen ZY, et al. A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood. 2011;117(18):4935-4945.
-
(2011)
Blood
, vol.117
, Issue.18
, pp. 4935-4945
-
-
Farrell, J.J.1
Sherva, R.M.2
Chen, Z.Y.3
-
29
-
-
84883577731
-
KLF1 gene mutations in Chinese adults with increased fetal hemoglobin
-
Wang T, He Y, Zhou JY, et al. KLF1 gene mutations in Chinese adults with increased fetal hemoglobin. Hemoglobin. 2013;37(5):501-506.
-
(2013)
Hemoglobin
, vol.37
, Issue.5
, pp. 501-506
-
-
Wang, T.1
He, Y.2
Zhou, J.Y.3
-
30
-
-
84880245691
-
A novel 519-525dup mutation of KLF1 gene identified in a Chinese blood donor with Lu(a-b-) phenotype
-
Wang Z, Luo G, Ji Y. A novel 519-525dup mutation of KLF1 gene identified in a Chinese blood donor with Lu(a-b-) phenotype. Transfusion. 2013;53(7):1619-1620.
-
(2013)
Transfusion
, vol.53
, Issue.7
, pp. 1619-1620
-
-
Wang, Z.1
Luo, G.2
Ji, Y.3
-
31
-
-
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
-
32
-
-
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
-
33
-
-
0041626891
-
Genetic variability in response to infection: Malaria and after
-
DOI 10.1038/sj.gene.6363878
-
Weatherall DJ, Clegg JB. Genetic variability in response to infection: malaria and after. Genes Immun. 2002;3(6):331-337. (Pubitemid 38967560)
-
(2002)
Genes and Immunity
, vol.3
, Issue.6
, pp. 331-337
-
-
Weatherall, D.J.1
Clegg, J.B.2
-
34
-
-
61449163023
-
Development and validation of a zeta-globin-specific ELISA for carrier screening of the (- SEA) alpha thalassaemia deletion
-
Tang L, Zhu P, Zhou WJ, et al. Development and validation of a zeta-globin-specific ELISA for carrier screening of the (- SEA) alpha thalassaemia deletion. J Clin Pathol. 2009;62(2):147-151.
-
(2009)
J Clin Pathol
, vol.62
, Issue.2
, pp. 147-151
-
-
Tang, L.1
Zhu, P.2
Zhou, W.J.3
-
35
-
-
84871464519
-
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(7429): 369-375.
-
(2012)
Nature
, vol.492
, Issue.7429
, pp. 369-375
-
-
Van Der Harst, P.1
Zhang, W.2
Mateo Leach, I.3
-
36
-
-
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
|