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Article

Disruption of the Hbs1l-Myb Locus Causes Hereditary Persistence of Fetal Hemoglobin in a Mouse Model

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Pages 1687-1695 | Received 01 Dec 2012, Accepted 11 Feb 2013, Published online: 21 Mar 2023

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Wanicha Tepakhan, Sataron Kanjanaopas & Korntip Srewaradachpisal. (2020) Association Between Genetic Polymorphisms and Hb F Levels in Heterozygous β-Thalassemia 3.5 kb Deletions. Hemoglobin 44:5, pages 338-343.
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Florinda Listì, Serena Sclafani, Veronica Agrigento, Rita Barone, Aurelio Maggio & Elena D’Alcamo. (2018) Study on the Role of Polymorphisms of the SOX-6 and MYB Genes and Fetal Hemoglobin Levels in Sicilian Patients with β-Thalassemia and Sickle Cell Disease. Hemoglobin 42:2, pages 103-107.
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Orapan Sripichai & Suthat Fucharoen. (2016) Fetal hemoglobin regulation in β-thalassemia: heterogeneity, modifiers and therapeutic approaches. Expert Review of Hematology 9:12, pages 1129-1137.
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Yunli Lai, Yun Chen, Biyan Chen, Haiyang Zheng, Sheng Yi, Guojian Li, Hongwei Wei, Sheng He & Chenguang Zheng. (2016) Genetic Variants at BCL11A and HBS1L-MYB loci Influence Hb F Levels in Chinese Zhuang β-Thalassemia Intermedia Patients. Hemoglobin 40:6, pages 405-410.
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Mikiko Suzuki, Masayuki Yamamoto & James Douglas Engel. (2014) Fetal Globin Gene Repressors as Drug Targets for Molecular Therapies To Treat the β-Globinopathies. Molecular and Cellular Biology 34:19, pages 3560-3569.
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Ho-Wan Ip & Chi-Chiu So. (2013) Diagnosis and prevention of thalassemia. Critical Reviews in Clinical Laboratory Sciences 50:6, pages 125-141.
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Janaka S. S. Liyanage, Jeremie H. Estepp, Kumar Srivastava, Sara R. Rashkin, Vivien A. Sheehan, Jane S. Hankins, Clifford M. Takemoto, Yun Li, Yuehua Cui, Motomi Mori, Stephen Burgess, Michael R. DeBaun & Guolian Kang. (2022) A Versatile and Efficient Novel Approach for Mendelian Randomization Analysis with Application to Assess the Causal Effect of Fetal Hemoglobin on Anemia in Sickle Cell Anemia. Mathematics 10:20, pages 3743.
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Sophie L. Dahl, Andreas M. Bapst, Stellor Nlandu Khodo, Carsten C. Scholz & Roland H. Wenger. (2022) Fount, fate, features, and function of renal erythropoietin-producing cells. Pflügers Archiv - European Journal of Physiology 474:8, pages 783-797.
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Haiwei Wang, Meihuan Chen, Shiyi Xu, Yali Pan, Yanhong Zhang, Hailong Huang & Liangpu Xu. (2021) Abnormal regulation of microRNAs and related genes in pediatric β‐thalassemia. Journal of Clinical Laboratory Analysis 35:9.
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Yunhao Liang, Xinhua Zhang, Yongqiong Liu, Liren Wang, Yuhua Ye, Xuemei Tan, Jiajie Pu, Qianqian Zhang, Xiuqin Bao, Xiaofeng Wei, Dongzhi Li, Ryo Kurita, Yukio Nakamura, Dali Li & Xiangmin Xu. (2021) GATA zinc finger domain‐containing protein 2A ( GATAD2A ) deficiency reactivates fetal haemoglobin in patients with β‐thalassaemia through impaired formation of methyl‐binding domain protein 2 (MBD2)‐containing nucleosome remodelling and deacetylation (NuRD) complex . British Journal of Haematology 193:6, pages 1220-1227.
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Shuang-Ping Ma, Hai-Rui Xi, Xu-Xia Gao, Jing-Min Yang, Ryo Kurita, Yukio Nakamura, Xian-Min Song, Hong-Yan Chen & Da-Ru Lu. (2021) Long noncoding RNA HBBP1 enhances γ-globin expression through the ETS transcription factor ELK1. Biochemical and Biophysical Research Communications 552, pages 157-163.
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Tanguy Corre, Belen Ponte, Edward Pivin, Menno Pruijm, Daniel Ackermann, Georg Ehret, Katharina Spanaus, Murielle Bochud & Roland H. Wenger. (2021) Heritability and association with distinct genetic loci of erythropoietin levels in the general population. Haematologica 106:9, pages 2499-2501.
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Gloria Barbarani, Agata Labedz, Sarah Stucchi, Alessia Abbiati & Antonella E. Ronchi. (2021) Physiological and Aberrant γ-Globin Transcription During Development. Frontiers in Cell and Developmental Biology 9.
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Lei Yu, Greggory Myers & James D. Engel. (2020) Small molecule therapeutics to treat the β-globinopathies. Current Opinion in Hematology 27:3, pages 129-140.
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Chiara Gemmo, Giulia Breveglieri, Giovanni Marzaro, Ilaria Lampronti, Lucia Carmela Cosenza, Jessica Gasparello, Cristina Zuccato, Enrica Fabbri, Monica Borgatti, Adriana Chilin, Alessia Finotti & Roberto Gambari. (2019) Surface plasmon resonance based analysis of the binding of LYAR protein to the rs368698783 (G>A) polymorphic Aγ-globin gene sequences mutated in β-thalassemia. Analytical and Bioanalytical Chemistry 411:29, pages 7699-7707.
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Chloé Sarnowski & Marie-France Hivert. (2018) Impact of Genetic Determinants of HbA1c on Type 2 Diabetes Risk and Diagnosis. Current Diabetes Reports 18:8.
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Xunde Wang, Nikolaos Angelis & Swee Lay Thein. (2018) MYB – A regulatory factor in hematopoiesis. Gene 665, pages 6-17.
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Swee Lay Thein. (2018) Molecular basis of β thalassemia and potential therapeutic targets. Blood Cells, Molecules, and Diseases 70, pages 54-65.
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Tasha A. Morrison, Ibifiri Wilcox, Hong-Yuan Luo, John J. Farrell, Ryo Kurita, Yukio Nakamura, George J. Murphy, Shuaiying Cui, Martin H. Steinberg & David H.K. Chui. (2018) A long noncoding RNA from the HBS1L-MYB intergenic region on chr6q23 regulates human fetal hemoglobin expression. Blood Cells, Molecules, and Diseases 69, pages 1-9.
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Eric W. Mills & Rachel Green. (2017) Ribosomopathies: There’s strength in numbers. Science 358:6363, pages eaan2755.
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Yunli Lai, Lin Zhou, Sheng Yi, Yun Chen, Yanqing Tang, Shang Yi, Ze Yang, Hongwei Wei, Chenguang Zheng & Sheng He. (2017) The association between four SNPs (rs7482144, rs4671393, rs28384513 and rs4895441) and fetal hemoglobin levels in Chinese Zhuang β-thalassemia intermedia patients. Blood Cells, Molecules, and Diseases 63, pages 52-57.
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Xuan Shang & Xiangmin Xu. (2017) Update in the genetics of thalassemia: What clinicians need to know. Best Practice & Research Clinical Obstetrics & Gynaecology 39, pages 3-15.
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Kevin H.M. Kuo. (2017) Multiple Testing in the Context of Gene Discovery in Sickle Cell Disease Using Genome-Wide Association Studies. Genomics Insights 10, pages 117863101772117.
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Swee Lay Thein. 2017. Gene and Cell Therapies for Beta-Globinopathies. Gene and Cell Therapies for Beta-Globinopathies 27 57 .
Gift Dineo Pule, Shaheen Mowla, Nicolas Novitzky & Ambroise Wonkam. (2016) Hydroxyurea down‐regulates BCL11A, KLF ‐ 1 and MYB through miRNA‐mediated actions to induce γ‐globin expression: implications for new therapeutic approaches of sickle cell disease . Clinical and Translational Medicine 5:1.
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Sophia E. Maharry, Christopher J. Walker, Sandya Liyanarachchi, Sujay Mehta, Mitra Patel, Maryam A. Bainazar, Xiaomeng Huang, Malori A. Lankenau, Kevin W. Hoag, Parvathi Ranganathan, Ramiro Garzon, James S. Blachly, Denis C. Guttridge, Clara D. Bloomfield, Albert de la Chapelle & Ann-Kathrin Eisfeld. (2016) Dissection of the Major Hematopoietic Quantitative Trait Locus in Chromosome 6q23.3 Identifies miR-3662 as a Player in Hematopoiesis and Acute Myeloid Leukemia. Cancer Discovery 6:9, pages 1036-1051.
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Kate Gardner & Swee Lay Thein. 2016. Sickle Cell Anemia. Sickle Cell Anemia 371 397 .
Gerd A. Blobel, David Bodine, Marjorie Brand, John Crispino, Marella F.T.R. de Bruijn, David Nathan, Thalia Papayannopoulou, Catherine Porcher, John Strouboulis, Len Zon, Douglas R. Higgs, George Stamatoyannopoulos & James Douglas Engel. (2015) An international effort to cure a global health problem: A report on the 19th Hemoglobin Switching Conference. Experimental Hematology 43:10, pages 821-837.
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Betty S Pace, Li Liu, Biaoru Li & Levi H Makala. (2015) Cell signaling pathways involved in drug-mediated fetal hemoglobin induction: Strategies to treat sickle cell disease. Experimental Biology and Medicine 240:8, pages 1050-1064.
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Amanda J. Grieco, Henny H. Billett, Nancy S. Green, M. Catherine Driscoll & Eric E. Bouhassira. (2015) Variation in Gamma-Globin Expression before and after Induction with Hydroxyurea Associated with BCL11A, KLF1 and TAL1. PLOS ONE 10:6, pages e0129431.
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Pavlos Fanis, Ioanna Kousiappa, Marios Phylactides & Marina Kleanthous. (2014) Genotyping of BCL11A and HBS1L-MYB SNPs associated with fetal haemoglobin levels: a SNaPshot minisequencing approach. BMC Genomics 15:1.
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Ralph Stadhouders, Suleyman Aktuna, Supat Thongjuea, Ali Aghajanirefah, Farzin Pourfarzad, Wilfred van IJcken, Boris Lenhard, Helen Rooks, Steve Best, Stephan Menzel, Frank Grosveld, Swee Lay Thein & Eric Soler. (2014) HBS1L-MYB intergenic variants modulate fetal hemoglobin via long-range MYB enhancers. Journal of Clinical Investigation 124:4, pages 1699-1710.
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Mark Roosjen, Bradley McColl, Betty Kao, Linden J. Gearing, Marnie E. Blewitt & Jim Vadolas. (2013) Transcriptional regulators Myb and BCL11A interplay with DNA methyltransferase 1 in developmental silencing of embryonic and fetal β‐like globin genes. The FASEB Journal 28:4, pages 1610-1620.
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Swee Lay Thein. (2013) Genetic association studies in β-hemoglobinopathies. Hematology 2013:1, pages 354-361.
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