Ahmed MH, Ghatge MS, Safo MK (2020) Hemoglobin: structure, function and allostery. Subcell Biochem 94:345–382. https://doi.org/10.1007/978-3-030-41769-7_14

Article  CAS  PubMed  PubMed Central  Google Scholar 

Albitar M, Care A, Peschle C, Liebhaber SA (1992) Developmental switching of messenger RNA expression from the human alpha-globin cluster: fetal/adult pattern of theta-globin gene expression. Blood 80:1586–1591

Article  CAS  PubMed  Google Scholar 

Ali S, Mumtaz S, Shakir HA, Khan M, Tahir HM, Mumtaz S, Mughal TA, Hassan A, Kazmi SAR, Sadia IM, Khan MA (2021) Current status of beta-thalassemia and its treatment strategies. Mol Genet Genom Med 9:e1788. https://doi.org/10.1002/mgg3.1788

Article  CAS  Google Scholar 

Amendola M, Brusson M, Miccio A (2022) CRISPRthripsis: the risk of CRISPR/Cas9-induced Chromothripsis in gene therapy. Stem Cells Transl Med 11:1003–1009. https://doi.org/10.1093/stcltm/szac064

Article  PubMed  PubMed Central  Google Scholar 

Amit M, Itskovitz-Eldor J (2009) Embryonic stem cells: isolation, characterization and culture. Adv Biochem Eng Biotechnol 114:173–184. https://doi.org/10.1007/10_2008_20

Article  CAS  PubMed  Google Scholar 

Antoniani C, Meneghini V, Lattanzi A, Felix T, Romano O, Magrin E, Weber L, Pavani G, El Hoss S, Kurita R, Nakamura Y, Cradick TJ, Lundberg AS, Porteus M, Amendola M, El Nemer W, Cavazzana M, Mavilio F, Miccio A (2018) Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus. Blood 131:1960–1973. https://doi.org/10.1182/blood-2017-10-811505

Article  CAS  PubMed  Google Scholar 

Antoniou P, Hardouin G, Martinucci P, Frati G, Felix T, Chalumeau A, Fontana L, Martin J, Masson C, Brusson M, Maule G, Rosello M, Giovannangeli C, Abramowski V, de Villartay JP, Concordet JP, Del Bene F, El Nemer W, Amendola M, Cavazzana M, Cereseto A, Romano O, Miccio A (2022) Base-editing-mediated dissection of a gamma-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression. Nat Commun 13:6618. https://doi.org/10.1038/s41467-022-34493-1

Article  CAS  PubMed  PubMed Central  Google Scholar 

Antony JS, Latifi N, Haque A, Lamsfus-Calle A, Daniel-Moreno A, Graeter S, Baskaran P, Weinmann P, Mezger M, Handgretinger R, Kormann MSD (2018) Gene correction of HBB mutations in CD34(+) hematopoietic stem cells using Cas9 mRNA and ssODN donors. Mol Cell Pediatr 5:9. https://doi.org/10.1186/s40348-018-0086-1

Article  PubMed  PubMed Central  Google Scholar 

Anzalone AV, Randolph PB, Davis JR, Sousa AA, Koblan LW, Levy JM, Chen PJ, Wilson C, Newby GA, Raguram A, Liu DR (2019) Search-and-replace genome editing without double-strand breaks or donor DNA. Nature 576:149–157. https://doi.org/10.1038/s41586-019-1711-4

Article  CAS  PubMed  PubMed Central  Google Scholar 

Badat M, Ejaz A, Hua P, Rice S, Zhang W, Hentges LD, Fisher CA, Denny N, Schwessinger R, Yasara N, Roy NBA, Issa F, Roy A, Telfer P, Hughes J, Mettananda S, Higgs DR, Davies JOJ (2023) Direct correction of haemoglobin E β-thalassaemia using base editors. Nat Commun 14:2238. https://doi.org/10.1038/s41467-023-37604-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bao X, Zhang X, Wang L, Wang Z, Huang J, Zhang Q, Ye Y, Liu Y, Chen D, Zuo Y, Liu Q, Xu P, Huang B, Fang J, Lao J, Feng X, Li Y, Kurita R, Nakamura Y, Yu W, Ju C, Huang C, Mohandas N, Li D, Zhao C, Xu X (2021) Epigenetic inactivation of ERF reactivates gamma-globin expression in beta-thalassemia. Am J Hum Genet 108:709–721. https://doi.org/10.1016/j.ajhg.2021.03.005

Article  CAS  PubMed  PubMed Central  Google Scholar 

Barrangou R, Fremaux C, Deveau H, Richards M, Boyaval P, Moineau S, Romero DA, Horvath P (2007) CRISPR provides acquired resistance against viruses in prokaryotes. Science 315:1709–1712. https://doi.org/10.1126/science.1138140

Article  CAS  PubMed  Google Scholar 

Basak A, Hancarova M, Ulirsch JC, Balci TB, Trkova M, Pelisek M, Vlckova M, Muzikova K, Cermak J, Trka J, Dyment DA, Orkin SH, Daly MJ, Sedlacek Z, Sankaran VG (2015) BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations. J Clin Investig 125:2363–2368. https://doi.org/10.1172/JCI81163

Article  PubMed  PubMed Central  Google Scholar 

Bjurström CF, Mojadidi M, Phillips J, Kuo C, Lai S, Lill GR, Cooper A, Kaufman M, Urbinati F, Wang X, Hollis RP, Kohn DB (2016) Reactivating fetal hemoglobin expression in human adult erythroblasts through BCL11A knockdown using targeted endonucleases. Mol Ther Nucleic Acids 5:e351. https://doi.org/10.1038/mtna.2016.52

Article  CAS  PubMed  PubMed Central  Google Scholar 

Caldecott KW (2008) Single-strand break repair and genetic disease. Nat Rev Genet 9:619–631. https://doi.org/10.1038/nrg2380

Article  PubMed  Google Scholar 

Cantù C, Ierardi R, Alborelli I, Fugazza C, Cassinelli L, Piconese S, Bosè F, Ottolenghi S, Ferrari G, Ronchi A (2011) Sox6 enhances erythroid differentiation in human erythroid progenitors. Blood 117:3669–3679. https://doi.org/10.1182/blood-2010-04-282350

Article  CAS  PubMed  Google Scholar 

Canver MC, Smith EC, Sher F, Pinello L, Sanjana NE, Shalem O, Chen DD, Schupp PG, Vinjamur DS, Garcia SP, Luc S, Kurita R, Nakamura Y, Fujiwara Y, Maeda T, Yuan G-C, Zhang F, Orkin SH, Bauer DE (2015) BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis. Nature 527:192–197. https://doi.org/10.1038/nature15521

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cao A, Galanello R (2010) Beta-thalassemia. Genet Med 12:61–76. https://doi.org/10.1097/GIM.0b013e3181cd68ed

Article  CAS  PubMed  Google Scholar 

Carlice-Dos-Reis T, Viana J, Moreira FC, Cardoso GL, Guerreiro J, Santos S, Ribeiro-Dos-Santos A (2017) Investigation of mutations in the HBB gene using the 1000 genomes database. PLoS ONE 12:e0174637. https://doi.org/10.1371/journal.pone.0174637

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chang KH, Smith SE, Sullivan T, Chen K, Zhou Q, West JA, Liu M, Liu Y, Vieira BF, Sun C, Hong VP, Zhang M, Yang X, Reik A, Urnov FD, Rebar EJ, Holmes MC, Danos O, Jiang H, Tan S (2017) Long-term engraftment and fetal globin induction upon BCL11A gene editing in bone-marrow-derived CD34(+) hematopoietic stem and progenitor cells. Mol Ther Methods Clin Dev 4:137–148. https://doi.org/10.1016/j.omtm.2016.12.009

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen PJ, Liu DR (2022) Prime editing for precise and highly versatile genome manipulation. Nat Rev Genet. https://doi.org/10.1038/s41576-022-00541-1

Article  PubMed  Google Scholar 

Chen S, Lee L, Naila T, Fishbain S, Wang A, Tomkinson AE, Lees-Miller SP, He Y (2021) Structural basis of long-range to short-range synaptic transition in NHEJ. Nature 593:294–298. https://doi.org/10.1038/s41586-021-03458-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chung JE, Magis W, Vu J, Heo SJ, Wartiovaara K, Walters MC, Kurita R, Nakamura Y, Boffelli D, Martin DIK, Corn JE, DeWitt MA (2019) CRISPR-Cas9 interrogation of a putative fetal globin repressor in human erythroid cells. PLoS ONE 14:e0208237. https://doi.org/10.1371/journal.pone.0208237

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ciavatta DJ, Ryan TM, Farmer SC, Townes TM (1995) Mouse model of human beta zero thalassemia: targeted deletion of the mouse beta maj- and beta min-globin genes in embryonic stem cells. Proc Natl Acad Sci U S A 92:9259–9263. https://doi.org/10.1073/pnas.92.20.9259

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cortés-Ciriano I, Lee JJ, Xi R, Jain D, Jung YL, Yang L, Gordenin D, Klimczak LJ, Zhang CZ, Pellman DS, Park PJ (2020) Comprehensive analysis of chromothripsis in 2,658 human cancers using whole-genome sequencing. Nat Genet 52:331–341. https://doi.org/10.1038/s41588-019-0576-7

Article  CAS  PubMed  PubMed Central  Google Scholar 

Deltcheva E, Chylinski K, Sharma CM, Gonzales K, Chao Y, Pirzada ZA, Eckert MR, Vogel J, Charpentier E (2011) CRISPR RNA maturation by trans-encoded small RNA and host factor RNase III. Nature 471:602

Article  CAS  PubMed  PubMed Central  Google Scholar 

Demirci S, Haro-Mora JJ, Leonard A, Drysdale C, Malide D, Keyvanfar K, Essawi K, Vizcardo R, Tamaoki N, Restifo NP, Tisdale JF, Uchida N (2020) Definitive hematopoietic stem/progenitor cells from human embryonic stem cells through serum/feeder-free organoid-induced differentiation. Stem Cell Res Ther 11:493. https://doi.org/10.1186/s13287-020-02019-5

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dias J, Gumenyuk M, Kang H, Vodyanik M, Yu J, Thomson JA, Slukvin II (2011) Generation of red blood cells from human induced pluripotent stem cells. Stem Cells Dev 20:1639–1647. https://doi.org/10.1089/scd.2011.0078

Article  CAS  PubMed  PubMed Central  Google Scholar 

Dominski Z, Kole R (1993) Restoration of correct splicing in thalassemic pre-mRNA by antisense oligonucleotides. Proc Natl Acad Sci U S A 90:8673–8677. https://doi.org/10.1073/pnas.90.18.8673

Article  CAS  PubMed  PubMed Central  Google Scholar 

Everette KA, Newby GA, Levine RM, Mayberry K, Jang Y, Mayuranathan T, Nimmagadda N, Dempsey E, Li Y, Bhoopalan SV, Liu X, Davis JR, Nelson AT, Chen PJ, Sousa AA, Che