RED CELLS , IRON , AND ERYTHROPOIESIS KLF 1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of b-thalassemia
暂无分享,去创建一个
Tizhen Yan | Li Lin | N. Mohandas | X. An | Lihua Yu | Xiangmin Xu | Qiji Liu | R. Cai | Xin-hua Zhang | Ji-wei Huang | Yu-qiu Zhou | Dun Liu | Xiao-feng Wei | Xiaoxia Ma | Chengguang Zheng | Yu-Qiu Zhou | Xiao-feng Wei | Xiao-feng Wei
[1] S. Philipsen,et al. Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. , 2014, Blood.
[2] S. Thein. Genetic association studies in β-hemoglobinopathies. , 2013, Hematology. American Society of Hematology. Education Program.
[3] C. Liao,et al. KLF1 Gene Mutations in Chinese Adults with Increased Fetal Hemoglobin , 2013, Hemoglobin.
[4] G. Luo,et al. A novel 519_525dup mutation of KLF1 gene identified in a Chinese blood donor with Lu(a–b–) phenotype , 2013, Transfusion.
[5] J. Cartron,et al. Molecular Analysis of the Rare In(Lu) Blood Type: Toward Decoding the Phenotypic Outcome of Haploinsufficiency for the Transcription Factor KLF1 , 2013, Human mutation.
[6] S. Thein. The Molecular Basis of b-Thalassemia , 2013 .
[7] S. Orkin,et al. The switch from fetal to adult hemoglobin. , 2013, Cold Spring Harbor perspectives in medicine.
[8] Christian Gieger,et al. Seventy-five genetic loci influencing the human red blood cell , 2012, Nature.
[9] Benjamin Dartigues,et al. Novel roles for KLF1 in erythropoiesis revealed by mRNA-seq , 2012, Genome research.
[10] G. Lettre. The search for genetic modifiers of disease severity in the β-hemoglobinopathies. , 2012, Cold Spring Harbor perspectives in medicine.
[11] A. Schuh,et al. Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults , 2012, Haematologica.
[12] P. Moi,et al. KLF1 gene mutations cause borderline HbA(2). , 2011, Blood.
[13] N. Burton,et al. Mutations in the second zinc finger of human EKLF reduce promoter affinity but give rise to benign and disease phenotypes. , 2011, Blood.
[14] M. Siatecka,et al. The multifunctional role of EKLF/KLF1 during erythropoiesis. , 2011, Blood.
[15] L. Farrer,et al. A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression. , 2011, Blood.
[16] P. Moi,et al. Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin , 2011, Haematologica.
[17] S. Philipsen,et al. Erythroid phenotypes associated with KLF1 mutations , 2011, Haematologica.
[18] Joel N Hirschhorn,et al. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation , 2010, Nature Genetics.
[19] A. D. de Brevern,et al. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. , 2010, American journal of human genetics.
[20] T. Townes,et al. KLF1 regulates BCL11A expression and γ- to β-globin gene switching , 2010, Nature Genetics.
[21] F. Grosveld,et al. Haploinsufficiency for the erythroid transcription factor KLF1 causes Hereditary Persistence of Fetal Hemoglobin , 2010, Nature Genetics.
[22] B. Pégourié,et al. Complications and treatment of patients with β-thalassemia in France: results of the National Registry , 2010, Haematologica.
[23] Serena Sanna,et al. Amelioration of Sardinian beta0 thalassemia by genetic modifiers. , 2009, Blood.
[24] N. Fu,et al. Development and validation of a ζ-globin-specific ELISA for carrier screening of the (−−SEA) α thalassaemia deletion , 2009, Journal of Clinical Pathology.
[25] N. Burton,et al. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. , 2008, Blood.
[26] Gonçalo R. Abecasis,et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia , 2008, Proceedings of the National Academy of Sciences.
[27] Simon Heath,et al. A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15 , 2007, Nature Genetics.
[28] M. Fleming,et al. Heme-regulated eIF2alpha kinase modifies the phenotypic severity of murine models of erythropoietic protoporphyria and beta-thalassemia. , 2005, The Journal of clinical investigation.
[29] M. Weiss,et al. Evaluation of alpha hemoglobin stabilizing protein (AHSP) as a genetic modifier in patients with beta thalassemia. , 2004, Blood.
[30] G. Luo,et al. The prevalence and spectrum of α and β thalassaemia in Guangdong Province: implications for the future health burden and population screening , 2004, Journal of Clinical Pathology.
[31] J. Clegg,et al. Genetic variability in response to infection: malaria and after , 2002, Genes and Immunity.
[32] D. J. Weatherall,et al. Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemias , 2001, Nature Reviews Genetics.
[33] T. Huisman,et al. DNA sequence variation associated with elevated fetal G gamma globin production. , 1985, Blood.
[34] J. B. Clegg,et al. The thalassaemia syndromes , 1965 .