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Aly. Acquired: 16 December 2015 Acknowledged: 14 AugustReferences 1. Weatherall DJ. Phenotype-genotype relationships in monogenic

by Coral Earnhardt (2020-08-28)

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Aly. Acquired: sixteen December 2015 Approved: 14 AugustReferences one. Weatherall DJ. Phenotype-genotype associations in monogenic disorder: classes through the thalassaemias. Nat Rev Genet. 2001;two:245?five. two. Weatherall DJ. Pathophysiology of thalassaemia. Baillieres Ideal Pract Res Clin Haematol. 1998;11:127?six. 3. Giardine B, Borg J, Viennas E, Pavlidis C, Inarigivir Moradkhani K, Joly P, et al. Updates in the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database concern):D1063?. 4. Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010;twelve:sixty one?six. 5. Aged JM. Screening and genetic analysis of haemoglobin diseases. Blood Rev. 2003;17:43?3. 6. Atweh G, Fathallah HV. Pharmacologic induction of fetal hemoglobin generation. Hematol Oncol Clin North Am. 2010;24:1131?four. 7. Gambari R, Fibach E. Medicinal chemistry of fetal hemoglobin inducers for procedure of beta-thalassemia. Curr Med Chem. 2007;fourteen:199?12. eight. Quek L, Thein SL. Molecular therapies in beta-thalassaemia. Br J Haematol. 2007;136:353?5. nine. Finotti A, Gambari R. Latest developments for novel choices in experimental organic treatment of -thalassemia. Specialist Opin Biol Ther. 2014;fourteen:1443?four. ten. Gambari R. Alternative choices for DNA-based experimental therapy of thalassemia. Specialist Opin Biol Ther. 2012;twelve:443?two. 11. Fibach E, Bianchi N, Borgatti M, Prus E, Gambari R. Mithramycin induces fetal hemoglobin creation in standard and thalassemic human erythroid precursor cells. Blood. 2003;102:1276?one. 12. Fibach E, Bianchi N, Borgatti M, Zuccato C, PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/28489566 Finotti A, Lampronti I, et al. Consequences of rapamycin on accumulation of alpha-, beta- and gamma-globin mRNAs in erythroid precursor cells from beta-thalassaemia people. Eur J Haematol. PubMed ID:https://www.ncbi.nlm.nih.gov/pubmed/27166428 2006;seventy seven:437?one. 13. Perrine SP, Rate BS, Faller DV. Targeted fetal hemoglobin induction for remedy of beta hemoglobinopathies. Hematol Oncol Clin North Am. 2014;28:233?eight. 14. Lampronti I, Bianchi N, Zuccato C, Dall'acqua F, Vedaldi D, Viola G, et al. Maximize in gamma-globin mRNA content material in human erythroid cells taken care of with angelicin analogs. Int J Hematol. 2009;90:318?7. fifteen. Bianchi N, Cosenza LC, Lampronti I, Finotti A, Breveglieri G, Zuccato C, et al. Structural and practical insights on an uncharacterized A-Globin-gene polymorphism current in 4 0-Thalassemia families with superior fetal hemoglobin concentrations. Mol Diagn Ther. 2016;twenty:161?three. 16. Thein SL. The emerging part of fetal hemoglobin induction in nontransfusion-dependent thalassemia. Blood Rev. 2012;26(Suppl 1):S35?. seventeen. Thein SL, Menzel S, Lathrop M, Garner C. Manage of fetal hemoglobin: new insights rising from genomics and scientific implications. Hum Mol Genet. 2009;eighteen(R2):R216?three. 18. Nguyen TK, Joly P, Bardel C, Moulsma M, Bonello-Palot N, Francina A. The XmnI (G)gamma polymorphism influences hemoglobin F synthesis opposite to BCL11A and HBS1L-MYB SNPs inside of a cohort of 57 beta-thalassemia intermedia people. Blood Cells Mol Dis. 2010;45:124?. 19. Trakarnsanga K, Wilson MC, Lau W, Singleton BK, Parsons SF, Sakuntanaga P, et al. Induction of adult amounts of -globin in human erythroid cells that intrinsically categorical embryonic or fetal globin by transduction with KLF1 and BCL11A-XL. Haematologica. 2014;99:1677?5. twenty. Danjou F, Francavilla M, Anni F, Satta S, Demartis FR, Perseu L, et al. A genetic score for your prediction of beta-thalassemia severity. Haematologica. 2015;one hundred:452?.21. Badens C, Joly P, Agouti I, Thuret I, Gonnet K, Fattoum S, et al. Variants in genetic modifiers of.

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