{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T07:39:57Z","timestamp":1787902797067,"version":"build-2784847793"},"reference-count":183,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T00:00:00Z","timestamp":1698192000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T00:00:00Z","timestamp":1698192000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["31771624"],"award-info":[{"award-number":["31771624"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum. Genet."],"published-print":{"date-parts":[[2023,12]]},"DOI":"10.1007\/s00439-023-02610-9","type":"journal-article","created":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T08:02:01Z","timestamp":1698220921000},"page":"1677-1703","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":31,"title":["CRISPR\/Cas-based gene editing in therapeutic strategies for beta-thalassemia"],"prefix":"10.1007","volume":"142","author":[{"given":"Shujun","family":"Zeng","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuangyin","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chao","family":"Qu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuzhi","family":"Teng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,10,25]]},"reference":[{"key":"2610_CR1","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1007\/978-3-030-41769-7_14","volume":"94","author":"MH Ahmed","year":"2020","unstructured":"Ahmed MH, Ghatge MS, Safo MK (2020) Hemoglobin: structure, function and allostery. Subcell Biochem 94:345\u2013382. https:\/\/doi.org\/10.1007\/978-3-030-41769-7_14","journal-title":"Subcell Biochem"},{"key":"2610_CR2","doi-asserted-by":"publisher","first-page":"1586","DOI":"10.1182\/blood.V80.6.1586.1586","volume":"80","author":"M Albitar","year":"1992","unstructured":"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\u20131591","journal-title":"Blood"},{"key":"2610_CR3","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1788","volume":"9","author":"S Ali","year":"2021","unstructured":"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","journal-title":"Mol Genet Genom Med"},{"key":"2610_CR4","doi-asserted-by":"publisher","first-page":"1003","DOI":"10.1093\/stcltm\/szac064","volume":"11","author":"M Amendola","year":"2022","unstructured":"Amendola M, Brusson M, Miccio A (2022) CRISPRthripsis: the risk of CRISPR\/Cas9-induced Chromothripsis in gene therapy. Stem Cells Transl Med 11:1003\u20131009. https:\/\/doi.org\/10.1093\/stcltm\/szac064","journal-title":"Stem Cells Transl Med"},{"key":"2610_CR5","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1007\/10_2008_20","volume":"114","author":"M Amit","year":"2009","unstructured":"Amit M, Itskovitz-Eldor J (2009) Embryonic stem cells: isolation, characterization and culture. Adv Biochem Eng Biotechnol 114:173\u2013184. https:\/\/doi.org\/10.1007\/10_2008_20","journal-title":"Adv Biochem Eng Biotechnol"},{"key":"2610_CR6","doi-asserted-by":"publisher","first-page":"1960","DOI":"10.1182\/blood-2017-10-811505","volume":"131","author":"C Antoniani","year":"2018","unstructured":"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 \u03b2-globin locus. Blood 131:1960\u20131973. https:\/\/doi.org\/10.1182\/blood-2017-10-811505","journal-title":"Blood"},{"key":"2610_CR7","doi-asserted-by":"publisher","first-page":"6618","DOI":"10.1038\/s41467-022-34493-1","volume":"13","author":"P Antoniou","year":"2022","unstructured":"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","journal-title":"Nat Commun"},{"key":"2610_CR8","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1186\/s40348-018-0086-1","volume":"5","author":"JS Antony","year":"2018","unstructured":"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","journal-title":"Mol Cell Pediatr"},{"key":"2610_CR9","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1038\/s41586-019-1711-4","volume":"576","author":"AV Anzalone","year":"2019","unstructured":"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\u2013157. https:\/\/doi.org\/10.1038\/s41586-019-1711-4","journal-title":"Nature"},{"key":"2610_CR10","doi-asserted-by":"publisher","first-page":"2238","DOI":"10.1038\/s41467-023-37604-8","volume":"14","author":"M Badat","year":"2023","unstructured":"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 \u03b2-thalassaemia using base editors. Nat Commun 14:2238. https:\/\/doi.org\/10.1038\/s41467-023-37604-8","journal-title":"Nat Commun"},{"key":"2610_CR11","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1016\/j.ajhg.2021.03.005","volume":"108","author":"X Bao","year":"2021","unstructured":"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\u2013721. https:\/\/doi.org\/10.1016\/j.ajhg.2021.03.005","journal-title":"Am J Hum Genet"},{"key":"2610_CR12","doi-asserted-by":"publisher","first-page":"1709","DOI":"10.1126\/science.1138140","volume":"315","author":"R Barrangou","year":"2007","unstructured":"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\u20131712. https:\/\/doi.org\/10.1126\/science.1138140","journal-title":"Science"},{"key":"2610_CR13","doi-asserted-by":"publisher","first-page":"2363","DOI":"10.1172\/JCI81163","volume":"125","author":"A Basak","year":"2015","unstructured":"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\u20132368. https:\/\/doi.org\/10.1172\/JCI81163","journal-title":"J Clin Investig"},{"key":"2610_CR14","doi-asserted-by":"publisher","DOI":"10.1038\/mtna.2016.52","volume":"5","author":"CF Bjurstr\u00f6m","year":"2016","unstructured":"Bjurstr\u00f6m 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","journal-title":"Mol Ther Nucleic Acids"},{"key":"2610_CR15","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1038\/nrg2380","volume":"9","author":"KW Caldecott","year":"2008","unstructured":"Caldecott KW (2008) Single-strand break repair and genetic disease. Nat Rev Genet 9:619\u2013631. https:\/\/doi.org\/10.1038\/nrg2380","journal-title":"Nat Rev Genet"},{"key":"2610_CR16","doi-asserted-by":"publisher","first-page":"3669","DOI":"10.1182\/blood-2010-04-282350","volume":"117","author":"C Cant\u00f9","year":"2011","unstructured":"Cant\u00f9 C, Ierardi R, Alborelli I, Fugazza C, Cassinelli L, Piconese S, Bos\u00e8 F, Ottolenghi S, Ferrari G, Ronchi A (2011) Sox6 enhances erythroid differentiation in human erythroid progenitors. Blood 117:3669\u20133679. https:\/\/doi.org\/10.1182\/blood-2010-04-282350","journal-title":"Blood"},{"key":"2610_CR17","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1038\/nature15521","volume":"527","author":"MC Canver","year":"2015","unstructured":"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\u2013197. https:\/\/doi.org\/10.1038\/nature15521","journal-title":"Nature"},{"key":"2610_CR18","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1097\/GIM.0b013e3181cd68ed","volume":"12","author":"A Cao","year":"2010","unstructured":"Cao A, Galanello R (2010) Beta-thalassemia. Genet Med 12:61\u201376. https:\/\/doi.org\/10.1097\/GIM.0b013e3181cd68ed","journal-title":"Genet Med"},{"key":"2610_CR19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0174637","volume":"12","author":"T Carlice-Dos-Reis","year":"2017","unstructured":"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","journal-title":"PLoS ONE"},{"key":"2610_CR20","doi-asserted-by":"publisher","first-page":"137","DOI":"10.1016\/j.omtm.2016.12.009","volume":"4","author":"KH Chang","year":"2017","unstructured":"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\u2013148. https:\/\/doi.org\/10.1016\/j.omtm.2016.12.009","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2610_CR21","doi-asserted-by":"publisher","DOI":"10.1038\/s41576-022-00541-1","author":"PJ Chen","year":"2022","unstructured":"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","journal-title":"Nat Rev Genet"},{"key":"2610_CR22","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1038\/s41586-021-03458-7","volume":"593","author":"S Chen","year":"2021","unstructured":"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\u2013298. https:\/\/doi.org\/10.1038\/s41586-021-03458-7","journal-title":"Nature"},{"key":"2610_CR23","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0208237","volume":"14","author":"JE Chung","year":"2019","unstructured":"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","journal-title":"PLoS ONE"},{"key":"2610_CR24","doi-asserted-by":"publisher","first-page":"9259","DOI":"10.1073\/pnas.92.20.9259","volume":"92","author":"DJ Ciavatta","year":"1995","unstructured":"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\u20139263. https:\/\/doi.org\/10.1073\/pnas.92.20.9259","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2610_CR25","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1038\/s41588-019-0576-7","volume":"52","author":"I Cort\u00e9s-Ciriano","year":"2020","unstructured":"Cort\u00e9s-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\u2013341. https:\/\/doi.org\/10.1038\/s41588-019-0576-7","journal-title":"Nat Genet"},{"key":"2610_CR26","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1038\/nature09886","volume":"471","author":"E Deltcheva","year":"2011","unstructured":"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","journal-title":"Nature"},{"key":"2610_CR27","doi-asserted-by":"publisher","first-page":"493","DOI":"10.1186\/s13287-020-02019-5","volume":"11","author":"S Demirci","year":"2020","unstructured":"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","journal-title":"Stem Cell Res Ther"},{"key":"2610_CR28","doi-asserted-by":"publisher","first-page":"1639","DOI":"10.1089\/scd.2011.0078","volume":"20","author":"J Dias","year":"2011","unstructured":"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\u20131647. https:\/\/doi.org\/10.1089\/scd.2011.0078","journal-title":"Stem Cells Dev"},{"key":"2610_CR29","doi-asserted-by":"publisher","first-page":"8673","DOI":"10.1073\/pnas.90.18.8673","volume":"90","author":"Z Dominski","year":"1993","unstructured":"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\u20138677. https:\/\/doi.org\/10.1073\/pnas.90.18.8673","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2610_CR30","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1038\/s41551-023-01026-0","volume":"7","author":"KA Everette","year":"2023","unstructured":"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, Cheng Y, Tisdale JF, Weiss MJ, Yen JS, Liu DR (2023) Ex vivo prime editing of patient haematopoietic stem cells rescues sickle-cell disease phenotypes after engraftment in mice. Nat Biomed Eng 7:616\u2013628. https:\/\/doi.org\/10.1038\/s41551-023-01026-0","journal-title":"Nat Biomed Eng"},{"key":"2610_CR31","doi-asserted-by":"publisher","first-page":"783","DOI":"10.1038\/s41586-022-05312-w","volume":"610","author":"R Feng","year":"2022","unstructured":"Feng R, Mayuranathan T, Huang P, Doerfler PA, Li Y, Yao Y, Zhang J, Palmer LE, Mayberry K, Christakopoulos GE, Xu P, Li C, Cheng Y, Blobel GA, Simon MC, Weiss MJ (2022a) Activation of gamma-globin expression by hypoxia-inducible factor 1alpha. Nature 610:783\u2013790. https:\/\/doi.org\/10.1038\/s41586-022-05312-w","journal-title":"Nature"},{"key":"2610_CR32","doi-asserted-by":"publisher","DOI":"10.1093\/procel\/pwac014","author":"Y Feng","year":"2022","unstructured":"Feng Y, Liu S, Mo Q, Xiao X, Liu P, Ma H (2022b) Enhancing prime editing efficiency and flexibility with tethered and split pegRNAs. Protein Cell. https:\/\/doi.org\/10.1093\/procel\/pwac014","journal-title":"Protein Cell"},{"key":"2610_CR33","doi-asserted-by":"publisher","first-page":"609","DOI":"10.2174\/156652408786241384","volume":"8","author":"E Fibach","year":"2008","unstructured":"Fibach E, Rachmilewitz E (2008) The role of oxidative stress in hemolytic anemia. Curr Mol Med 8:609\u2013619. https:\/\/doi.org\/10.2174\/156652408786241384","journal-title":"Curr Mol Med"},{"key":"2610_CR34","doi-asserted-by":"publisher","first-page":"38","DOI":"10.1111\/j.1749-6632.1998.tb10460.x","volume":"850","author":"BG Forget","year":"1998","unstructured":"Forget BG (1998) Molecular basis of hereditary persistence of fetal hemoglobin. Ann N Y Acad Sci 850:38\u201344. https:\/\/doi.org\/10.1111\/j.1749-6632.1998.tb10460.x","journal-title":"Ann N Y Acad Sci"},{"key":"2610_CR35","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1056\/NEJMoa2031054","volume":"384","author":"H Frangoul","year":"2021","unstructured":"Frangoul H, Altshuler D, Cappellini MD, Chen YS, Domm J, Eustace BK, Foell J, de la Fuente J, Grupp S, Handgretinger R, Ho TW, Kattamis A, Kernytsky A, Lekstrom-Himes J, Li AM, Locatelli F, Mapara MY, de Montalembert M, Rondelli D, Sharma A, Sheth S, Soni S, Steinberg MH, Wall D, Yen A, Corbacioglu S (2021) CRISPR-Cas9 gene editing for sickle cell disease and \u03b2-thalassemia. N Engl J Med 384:252\u2013260. https:\/\/doi.org\/10.1056\/NEJMoa2031054","journal-title":"N Engl J Med"},{"key":"2610_CR36","doi-asserted-by":"publisher","first-page":"1573","DOI":"10.1038\/s41591-022-01906-z","volume":"28","author":"B Fu","year":"2022","unstructured":"Fu B, Liao J, Chen S, Li W, Wang Q, Hu J, Yang F, Hsiao S, Jiang Y, Wang L, Chen F, Zhang Y, Wang X, Li D, Liu M, Wu Y (2022) CRISPR-Cas9-mediated gene editing of the BCL11A enhancer for pediatric \u03b2(0)\/\u03b2(0) transfusion-dependent \u03b2-thalassemia. Nat Med 28:1573\u20131580. https:\/\/doi.org\/10.1038\/s41591-022-01906-z","journal-title":"Nat Med"},{"key":"2610_CR37","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a011734","author":"S Fucharoen","year":"2012","unstructured":"Fucharoen S, Weatherall DJ (2012) The hemoglobin E thalassemias. Cold Spring Harb Perspect Med. https:\/\/doi.org\/10.1101\/cshperspect.a011734","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2610_CR38","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1038\/nature24644","volume":"551","author":"NM Gaudelli","year":"2017","unstructured":"Gaudelli NM, Komor AC, Rees HA, Packer MS, Badran AH, Bryson DI, Liu DR (2017) Programmable base editing of A*T to G*C in genomic DNA without DNA cleavage. Nature 551:464\u2013471. https:\/\/doi.org\/10.1038\/nature24644","journal-title":"Nature"},{"key":"2610_CR39","doi-asserted-by":"publisher","first-page":"892","DOI":"10.1038\/s41587-020-0491-6","volume":"38","author":"NM Gaudelli","year":"2020","unstructured":"Gaudelli NM, Lam DK, Rees HA, Sol\u00e1-Esteves NM, Barrera LA, Born DA, Edwards A, Gehrke JM, Lee SJ, Liquori AJ, Murray R, Packer MS, Rinaldi C, Slaymaker IM, Yen J, Young LE, Ciaramella G (2020) Directed evolution of adenine base editors with increased activity and therapeutic application. Nat Biotechnol 38:892\u2013900. https:\/\/doi.org\/10.1038\/s41587-020-0491-6","journal-title":"Nat Biotechnol"},{"key":"2610_CR40","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1016\/j.ab.2018.12.002","volume":"568","author":"B Ghassemi","year":"2018","unstructured":"Ghassemi B, Shamsara M, Soleimani M, Kiani J, Rassoulzadegan M (2018) Pipeline for the generation of gene knockout mice using dual sgRNA CRISPR\/Cas9-mediated gene editing. Anal Biochem 568:31\u201340","journal-title":"Anal Biochem"},{"key":"2610_CR41","doi-asserted-by":"publisher","first-page":"D1063","DOI":"10.1093\/nar\/gkt911","volume":"42","author":"B Giardine","year":"2014","unstructured":"Giardine B, Borg J, Viennas E, Pavlidis C, Moradkhani K, Joly P, Bartsakoulia M, Riemer C, Miller W, Tzimas G, Wajcman H, Hardison RC, Patrinos GP (2014) Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res 42:D1063\u2013D1069. https:\/\/doi.org\/10.1093\/nar\/gkt911","journal-title":"Nucleic Acids Res"},{"key":"2610_CR42","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.trsl.2014.05.002","volume":"165","author":"GD Ginder","year":"2015","unstructured":"Ginder GD (2015) Epigenetic regulation of fetal globin gene expression in adult erythroid cells. Transl Res 165:115\u2013125. https:\/\/doi.org\/10.1016\/j.trsl.2014.05.002","journal-title":"Transl Res"},{"key":"2610_CR43","doi-asserted-by":"publisher","first-page":"1652","DOI":"10.1182\/blood.2020006425","volume":"137","author":"Y Gong","year":"2021","unstructured":"Gong Y, Zhang X, Zhang Q, Zhang Y, Ye Y, Yu W, Shao C, Yan T, Huang J, Zhong J, Wang L, Li Y, Wang L, Xu X (2021) A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the \u03b3-globin gene in \u03b2-thalassemia. Blood 137:1652\u20131657. https:\/\/doi.org\/10.1182\/blood.2020006425","journal-title":"Blood"},{"key":"2610_CR44","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1126\/science.aao0932","volume":"361","author":"JD Grevet","year":"2018","unstructured":"Grevet JD, Lan X, Hamagami N, Edwards CR, Sankaranarayanan L, Ji X, Bhardwaj SK, Face CJ, Posocco DF, Abdulmalik O, Keller CA, Giardine B, Sidoli S, Garcia BA, Chou ST, Liebhaber SA, Hardison RC, Shi J, Blobel GA (2018) Domain-focused CRISPR screen identifies HRI as a fetal hemoglobin regulator in human erythroid cells. Science 361:285\u2013290","journal-title":"Science"},{"key":"2610_CR45","doi-asserted-by":"publisher","first-page":"1465","DOI":"10.1038\/mt.2015.113","volume":"23","author":"S Guda","year":"2015","unstructured":"Guda S, Brendel C, Renella R, Du P, Bauer DE, Canver MC, Grenier JK, Grimson AW, Kamran SC, Thornton J, de Boer H, Root DE, Milsom MD, Orkin SH, Gregory RI, Williams DA (2015) miRNA-embedded shRNAs for lineage-specific BCL11A Knockdown and hemoglobin F induction. Mol Ther 23:1465\u20131474. https:\/\/doi.org\/10.1038\/mt.2015.113","journal-title":"Mol Ther"},{"key":"2610_CR46","doi-asserted-by":"publisher","DOI":"10.1016\/j.redox.2022.102239","volume":"50","author":"G Han","year":"2022","unstructured":"Han G, Cao C, Yang X, Zhao GW, Hu XJ, Yu DL, Yang RF, Yang K, Zhang YY, Wang WT, Liu XZ, Xu P, Liu XH, Chen P, Xue Z, Liu DP, Lv X (2022) Nrf2 expands the intracellular pool of the chaperone AHSP in a cellular model of beta-thalassemia. Redox Biol 50:102239. https:\/\/doi.org\/10.1016\/j.redox.2022.102239","journal-title":"Redox Biol"},{"key":"2610_CR47","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1182\/blood.2022016629","volume":"141","author":"G Hardouin","year":"2023","unstructured":"Hardouin G, Antoniou P, Martinucci P, Felix T, Manceau S, Joseph L, Masson C, Scaramuzza S, Ferrari G, Cavazzana M, Miccio A (2023) Adenine base editor-mediated correction of the common and severe IVS1-110 (G>A) \u03b2-thalassemia mutation. Blood 141:1169\u20131179. https:\/\/doi.org\/10.1182\/blood.2022016629","journal-title":"Blood"},{"key":"2610_CR48","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1038\/nature14245","volume":"519","author":"R Heler","year":"2015","unstructured":"Heler R, Samai P, Modell JW, Weiner C, Goldberg GW, Bikard D, Marraffini LA (2015) Cas9 specifies functional viral targets during CRISPR-Cas adaptation. Nature 519:199\u2013202. https:\/\/doi.org\/10.1038\/nature14245","journal-title":"Nature"},{"key":"2610_CR49","first-page":"1063","volume":"19","author":"N Heydari","year":"2016","unstructured":"Heydari N, Shariati L, Khanahmad H, Hejazi Z, Shahbazi M, Salehi M (2016) Gamma reactivation using the spongy effect of KLF1-binding site sequence: an approach in gene therapy for beta-thalassemia. Iran J Basic Med Sci 19:1063\u20131069","journal-title":"Iran J Basic Med Sci"},{"key":"2610_CR50","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1038\/nbt.1562","volume":"27","author":"D Hockemeyer","year":"2009","unstructured":"Hockemeyer D, Soldner F, Beard C, Gao Q, Mitalipova M, DeKelver RC, Katibah GE, Amora R, Boydston EA, Zeitler B, Meng X, Miller JC, Zhang L, Rebar EJ, Gregory PD, Urnov FD, Jaenisch R (2009) Efficient targeting of expressed and silent genes in human ESCs and iPSCs using zinc-finger nucleases. Nat Biotechnol 27:851\u2013857. https:\/\/doi.org\/10.1038\/nbt.1562","journal-title":"Nat Biotechnol"},{"key":"2610_CR51","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1038\/nbt.1927","volume":"29","author":"D Hockemeyer","year":"2011","unstructured":"Hockemeyer D, Wang H, Kiani S, Lai CS, Gao Q, Cassady JP, Cost GJ, Zhang L, Santiago Y, Miller JC, Zeitler B, Cherone JM, Meng X, Hinkley SJ, Rebar EJ, Gregory PD, Urnov FD, Jaenisch R (2011) Genetic engineering of human pluripotent cells using TALE nucleases. Nat Biotechnol 29:731\u2013734. https:\/\/doi.org\/10.1038\/nbt.1927","journal-title":"Nat Biotechnol"},{"key":"2610_CR52","doi-asserted-by":"publisher","first-page":"538","DOI":"10.1007\/s13238-019-0627-y","volume":"10","author":"Y Huang","year":"2019","unstructured":"Huang Y, Ding C, Liang P, Li D, Tang Y, Meng W, Sun H, Lu H, Chen Y, Chen X, Huang Q, Fang J, Zhou C, Yang S, Huang J (2019) HBB-deficient Macaca fascicularis monkey presents with human \u03b2-thalassemia. Protein Cell 10:538\u2013542. https:\/\/doi.org\/10.1007\/s13238-019-0627-y","journal-title":"Protein Cell"},{"key":"2610_CR53","doi-asserted-by":"publisher","first-page":"2121","DOI":"10.1182\/blood.2020005301","volume":"135","author":"P Huang","year":"2020","unstructured":"Huang P, Peslak SA, Lan X, Khandros E, Yano JA, Sharma M, Keller CA, Giardine B, Qin K, Abdulmalik O, Hardison RC, Shi J, Blobel GA (2020) The HRI-regulated transcription factor ATF4 activates BCL11A transcription to silence fetal hemoglobin expression. Blood 135:2121\u20132132. https:\/\/doi.org\/10.1182\/blood.2020005301","journal-title":"Blood"},{"key":"2610_CR54","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1038\/ng.2871","volume":"46","author":"JR Hughes","year":"2014","unstructured":"Hughes JR, Roberts N, McGowan S, Hay D, Giannoulatou E, Lynch M, De Gobbi M, Taylor S, Gibbons R, Higgs DR (2014) Analysis of hundreds of cis-regulatory landscapes at high resolution in a single, high-throughput experiment. Nat Genet 46:205\u2013212. https:\/\/doi.org\/10.1038\/ng.2871","journal-title":"Nat Genet"},{"key":"2610_CR55","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.omtm.2017.11.005","volume":"8","author":"O Humbert","year":"2018","unstructured":"Humbert O, Peterson CW, Norgaard ZK, Radtke S, Kiem HP (2018) A Nonhuman primate transplantation model to evaluate hematopoietic stem cell gene editing strategies for \u03b2-hemoglobinopathies. Mol Ther Methods Clin Dev 8:75\u201386. https:\/\/doi.org\/10.1016\/j.omtm.2017.11.005","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2610_CR56","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.aaw3768","author":"O Humbert","year":"2019","unstructured":"Humbert O, Radtke S, Samuelson C, Carrillo RR, Perez AM, Reddy SS, Lux C, Pattabhi S, Schefter LE, Negre O, Lee CM, Bao G, Adair JE, Peterson CW, Rawlings DJ, Scharenberg AM, Kiem HP (2019) Therapeutically relevant engraftment of a CRISPR-Cas9-edited HSC-enriched population with HbF reactivation in nonhuman primates. Sci Transl Med. https:\/\/doi.org\/10.1126\/scitranslmed.aaw3768","journal-title":"Sci Transl Med"},{"key":"2610_CR57","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1038\/ncb3452","volume":"19","author":"N Hustedt","year":"2016","unstructured":"Hustedt N, Durocher D (2016) The control of DNA repair by the cell cycle. Nat Cell Biol 19:1\u20139. https:\/\/doi.org\/10.1038\/ncb3452","journal-title":"Nat Cell Biol"},{"key":"2610_CR58","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1097\/moh.0000000000000343","volume":"24","author":"Y Hwang","year":"2017","unstructured":"Hwang Y, Broxmeyer HE, Lee MR (2017) Generating autologous hematopoietic cells from human-induced pluripotent stem cells through ectopic expression of transcription factors. Curr Opin Hematol 24:283\u2013288. https:\/\/doi.org\/10.1097\/moh.0000000000000343","journal-title":"Curr Opin Hematol"},{"key":"2610_CR59","doi-asserted-by":"publisher","first-page":"5429","DOI":"10.1128\/jb.169.12.5429-5433.1987","volume":"169","author":"Y Ishino","year":"1987","unstructured":"Ishino Y, Shinagawa H, Makino K, Amemura M, Nakata A (1987) Nucleotide sequence of the iap gene, responsible for alkaline phosphatase isozyme conversion in Escherichia coli, and identification of the gene product. J Bacteriol 169:5429\u20135433. https:\/\/doi.org\/10.1128\/jb.169.12.5429-5433.1987","journal-title":"J Bacteriol"},{"key":"2610_CR60","doi-asserted-by":"publisher","first-page":"1565","DOI":"10.1046\/j.1365-2958.2002.02839.x","volume":"43","author":"R Jansen","year":"2002","unstructured":"Jansen R, Embden JD, Gaastra W, Schouls LM (2002) Identification of genes that are associated with DNA repeats in prokaryotes. Mol Microbiol 43:1565\u20131575. https:\/\/doi.org\/10.1046\/j.1365-2958.2002.02839.x","journal-title":"Mol Microbiol"},{"key":"2610_CR61","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1186\/1423-0127-18-10","volume":"18","author":"NM Jensen","year":"2011","unstructured":"Jensen NM, Dalsgaard T, Jakobsen M, Nielsen RR, S\u00f8rensen CB, Bolund L, Jensen TG (2011) An update on targeted gene repair in mammalian cells: methods and mechanisms. J Biomed Sci 18:10. https:\/\/doi.org\/10.1186\/1423-0127-18-10","journal-title":"J Biomed Sci"},{"key":"2610_CR62","doi-asserted-by":"publisher","first-page":"1938","DOI":"10.1016\/j.ymthe.2020.07.021","volume":"28","author":"YK Jeong","year":"2020","unstructured":"Jeong YK, Song B, Bae S (2020) Current status and challenges of DNA base editing tools. Mol Ther 28:1938\u20131952. https:\/\/doi.org\/10.1016\/j.ymthe.2020.07.021","journal-title":"Mol Ther"},{"key":"2610_CR63","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1126\/science.1225829","volume":"337","author":"M Jinek","year":"2012","unstructured":"Jinek M, Chylinski K, Fonfara I, Hauer M, Doudna JA, Charpentier E (2012) A programmable dual-RNA-guided DNA endonuclease in adaptive bacterial immunity. Science 337:816\u2013821. https:\/\/doi.org\/10.1126\/science.1225829","journal-title":"Science"},{"key":"2610_CR64","doi-asserted-by":"publisher","first-page":"398","DOI":"10.1016\/j.ejphar.2019.04.042","volume":"854","author":"MA Khosravi","year":"2019","unstructured":"Khosravi MA, Abbasalipour M, Concordet JP, Berg JV, Zeinali S, Arashkia A, Azadmanesh K, Buch T, Karimipoor M (2019) Targeted deletion of BCL11A gene by CRISPR-Cas9 system for fetal hemoglobin reactivation: a promising approach for gene therapy of beta thalassemia disease. Eur J Pharmacol 854:398\u2013405. https:\/\/doi.org\/10.1016\/j.ejphar.2019.04.042","journal-title":"Eur J Pharmacol"},{"key":"2610_CR65","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1007\/bf01696614","volume":"70","author":"W Knapp","year":"1995","unstructured":"Knapp W, Strobl H, Scheinecker C, Bello-Fernandez C, Majdic O (1995) Molecular characterization of CD34+ human hematopoietic progenitor cells. Ann Hematol 70:281\u2013296. https:\/\/doi.org\/10.1007\/bf01696614","journal-title":"Ann Hematol"},{"key":"2610_CR66","doi-asserted-by":"publisher","first-page":"420","DOI":"10.1038\/nature17946","volume":"533","author":"AC Komor","year":"2016","unstructured":"Komor AC, Kim YB, Packer MS, Zuris JA, Liu DR (2016) Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage. Nature 533:420\u2013424. https:\/\/doi.org\/10.1038\/nature17946","journal-title":"Nature"},{"key":"2610_CR67","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0103020","volume":"9","author":"P Kountouris","year":"2014","unstructured":"Kountouris P, Lederer CW, Fanis P, Feleki X, Old J, Kleanthous M (2014) IthaGenes: an interactive database for haemoglobin variations and epidemiology. PLoS ONE 9:e103020. https:\/\/doi.org\/10.1371\/journal.pone.0103020","journal-title":"PLoS ONE"},{"key":"2610_CR68","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1038\/s41586-023-05870-7","volume":"616","author":"J Kreitz","year":"2023","unstructured":"Kreitz J, Friedrich MJ, Guru A, Lash B, Saito M, Macrae RK, Zhang F (2023) Programmable protein delivery with a bacterial contractile injection system. Nature 616:357\u2013364. https:\/\/doi.org\/10.1038\/s41586-023-05870-7","journal-title":"Nature"},{"key":"2610_CR69","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1038\/s41587-020-0609-x","volume":"39","author":"IC Kurt","year":"2021","unstructured":"Kurt IC, Zhou R, Iyer S, Garcia SP, Miller BR, Langner LM, Gr\u00fcnewald J, Joung JK (2021) CRISPR C-to-G base editors for inducing targeted DNA transversions in human cells. Nat Biotechnol 39:41\u201346. https:\/\/doi.org\/10.1038\/s41587-020-0609-x","journal-title":"Nat Biotechnol"},{"key":"2610_CR70","doi-asserted-by":"publisher","first-page":"10133","DOI":"10.1038\/s41598-020-66309-x","volume":"10","author":"A Lamsfus-Calle","year":"2020","unstructured":"Lamsfus-Calle A, Daniel-Moreno A, Antony JS, Epting T, Heumos L, Baskaran P, Admard J, Casadei N, Latifi N, Siegmund DM, Kormann MSD, Handgretinger R, Mezger M (2020) Comparative targeting analysis of KLF1, BCL11A, and HBG1\/2 in CD34(+) HSPCs by CRISPR\/Cas9 for the induction of fetal hemoglobin. Sci Rep 10:10133. https:\/\/doi.org\/10.1038\/s41598-020-66309-x","journal-title":"Sci Rep"},{"key":"2610_CR71","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1089\/crispr.2020.0141","volume":"4","author":"A Lamsfus-Calle","year":"2021","unstructured":"Lamsfus-Calle A, Daniel-Moreno A, Ure\u00f1a-Bail\u00e9n G, Rottenberger J, Raju J, Epting T, Marciano S, Heumos L, Baskaran P, Antony JS, Handgretinger R, Mezger M (2021) Universal gene correction approaches for \u03b2-hemoglobinopathies using CRISPR-Cas9 and adeno-associated virus serotype 6 donor templates. Crispr J 4:207\u2013222. https:\/\/doi.org\/10.1089\/crispr.2020.0141","journal-title":"Crispr J"},{"key":"2610_CR72","doi-asserted-by":"publisher","first-page":"895","DOI":"10.1038\/s41588-021-00838-7","volume":"53","author":"ML Leibowitz","year":"2021","unstructured":"Leibowitz ML, Papathanasiou S, Doerfler PA, Blaine LJ, Sun L, Yao Y, Zhang CZ, Weiss MJ, Pellman D (2021) Chromothripsis as an on-target consequence of CRISPR-Cas9 genome editing. Nat Genet 53:895\u2013905. https:\/\/doi.org\/10.1038\/s41588-021-00838-7","journal-title":"Nat Genet"},{"key":"2610_CR73","doi-asserted-by":"publisher","first-page":"11869","DOI":"10.1073\/pnas.0804799105","volume":"105","author":"G Lettre","year":"2008","unstructured":"Lettre G, Sankaran VG, Bezerra MA, Ara\u00fajo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH (2008) DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci U S A 105:11869\u201311874. https:\/\/doi.org\/10.1073\/pnas.0804799105","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2610_CR74","doi-asserted-by":"publisher","first-page":"390","DOI":"10.1016\/j.omtm.2018.04.008","volume":"9","author":"C Li","year":"2018","unstructured":"Li C, Psatha N, Gil S, Wang H, Papayannopoulou T, Lieber A (2018a) HDAd5\/35(++) adenovirus vector expressing Anti-CRISPR peptides decreases CRISPR\/Cas9 toxicity in human hematopoietic stem cells. Mol Ther Methods Clin Dev 9:390\u2013401. https:\/\/doi.org\/10.1016\/j.omtm.2018.04.008","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2610_CR75","doi-asserted-by":"publisher","first-page":"2915","DOI":"10.1182\/blood-2018-03-838540","volume":"131","author":"C Li","year":"2018","unstructured":"Li C, Psatha N, Sova P, Gil S, Wang H, Kim J, Kulkarni C, Valensisi C, Hawkins RD, Stamatoyannopoulos G, Lieber A (2018b) Reactivation of \u03b3-globin in adult \u03b2-YAC mice after ex vivo and in vivo hematopoietic stem cell genome editing. Blood 131:2915\u20132928. https:\/\/doi.org\/10.1182\/blood-2018-03-838540","journal-title":"Blood"},{"key":"2610_CR76","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1016\/j.biomaterials.2018.04.031","volume":"171","author":"L Li","year":"2018","unstructured":"Li L, Hu S, Chen X (2018c) Non-viral delivery systems for CRISPR\/Cas9-based genome editing: challenges and opportunities. Biomaterials 171:207\u2013218. https:\/\/doi.org\/10.1016\/j.biomaterials.2018.04.031","journal-title":"Biomaterials"},{"key":"2610_CR77","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1007\/s12519-017-0107-5","volume":"14","author":"XY Li","year":"2018","unstructured":"Li XY, Sun X, Chen J, Qin MQ, Luan Z, Zhu YP, Fang JP (2018d) Hematopoietic stem cell transplantation for children with \u03b2-thalassemia major: multicenter experience in China. World J Pediatr 14:92\u201399. https:\/\/doi.org\/10.1007\/s12519-017-0107-5","journal-title":"World J Pediatr"},{"key":"2610_CR78","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.577053","volume":"11","author":"J Li","year":"2020","unstructured":"Li J, Zhou Z, Sun HX, Ouyang W, Dong G, Liu T, Ge L, Zhang X, Liu C, Gu Y (2020) Transcriptome analyses of \u03b2-Thalassemia -28(A>G) Mutation using isogenic cell models generated by CRISPR\/Cas9 and asymmetric single-stranded oligodeoxynucleotides (assODNs). Front Genet 11:577053. https:\/\/doi.org\/10.3389\/fgene.2020.577053","journal-title":"Front Genet"},{"key":"2610_CR79","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1182\/bloodadvances.2020003702","volume":"5","author":"C Li","year":"2021","unstructured":"Li C, Georgakopoulou A, Mishra A, Gil S, Hawkins RD, Yannaki E, Lieber A (2021a) In vivo HSPC gene therapy with base editors allows for efficient reactivation of fetal \u03b3-globin in \u03b2-YAC mice. Blood Adv 5:1122\u20131135. https:\/\/doi.org\/10.1182\/bloodadvances.2020003702","journal-title":"Blood Adv"},{"key":"2610_CR80","doi-asserted-by":"publisher","first-page":"822","DOI":"10.1016\/j.ymthe.2020.09.001","volume":"29","author":"C Li","year":"2021","unstructured":"Li C, Wang H, Georgakopoulou A, Gil S, Yannaki E, Lieber A (2021b) In Vivo HSC gene therapy using a Bi-modular HDAd5\/35++ vector cures sickle cell disease in a mouse model. Mol Ther 29:822\u2013837. https:\/\/doi.org\/10.1016\/j.ymthe.2020.09.001","journal-title":"Mol Ther"},{"key":"2610_CR81","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1007\/s13238-017-0475-6","volume":"8","author":"P Liang","year":"2017","unstructured":"Liang P, Ding C, Sun H, Xie X, Xu Y, Zhang X, Sun Y, Xiong Y, Ma W, Liu Y, Wang Y, Fang J, Liu D, Songyang Z, Zhou C, Huang J (2017) Correction of \u03b2-thalassemia mutant by base editor in human embryos. Protein Cell 8:811\u2013822. https:\/\/doi.org\/10.1007\/s13238-017-0475-6","journal-title":"Protein Cell"},{"key":"2610_CR82","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1038\/s41467-022-35508-7","volume":"14","author":"J Liao","year":"2023","unstructured":"Liao J, Chen S, Hsiao S, Jiang Y, Yang Y, Zhang Y, Wang X, Lai Y, Bauer DE, Wu Y (2023) Therapeutic adenine base editing of human hematopoietic stem cells. Nat Commun 14:207. https:\/\/doi.org\/10.1038\/s41467-022-35508-7","journal-title":"Nat Commun"},{"key":"2610_CR83","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1186\/scrt222","volume":"4","author":"WF Lim","year":"2013","unstructured":"Lim WF, Inoue-Yokoo T, Tan KS, Lai MI, Sugiyama D (2013) Hematopoietic cell differentiation from embryonic and induced pluripotent stem cells. Stem Cell Res Ther 4:71. https:\/\/doi.org\/10.1186\/scrt222","journal-title":"Stem Cell Res Ther"},{"key":"2610_CR84","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1038\/ni925","volume":"4","author":"P Liu","year":"2003","unstructured":"Liu P, Keller JR, Ortiz M, Tessarollo L, Rachel RA, Nakamura T, Jenkins NA, Copeland NG (2003) Bcl11a is essential for normal lymphoid development. Nat Immunol 4:525\u2013532. https:\/\/doi.org\/10.1038\/ni925","journal-title":"Nat Immunol"},{"key":"2610_CR85","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.omtn.2016.11.010","volume":"6","author":"Y Liu","year":"2017","unstructured":"Liu Y, Yang Y, Kang X, Lin B, Yu Q, Song B, Gao G, Chen Y, Sun X, Li X, Bu L, Fan Y (2017) One-step Biallelic and Scarless correction of a \u03b2-thalassemia mutation in patient-specific iPSCs without drug selection. Mol Ther Nucleic Acids 6:57\u201367. https:\/\/doi.org\/10.1016\/j.omtn.2016.11.010","journal-title":"Mol Ther Nucleic Acids"},{"key":"2610_CR86","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1016\/j.cell.2018.03.016","volume":"173","author":"N Liu","year":"2018","unstructured":"Liu N, Hargreaves VV, Zhu Q, Kurland JV, Hong J, Kim W, Sher F, Macias-Trevino C, Rogers JM, Kurita R, Nakamura Y, Yuan GC, Bauer DE, Xu J, Bulyk ML, Orkin SH (2018) Direct promoter repression by BCL11A controls the fetal to adult hemoglobin switch. Cell 173:430-442.e17. https:\/\/doi.org\/10.1016\/j.cell.2018.03.016","journal-title":"Cell"},{"key":"2610_CR87","doi-asserted-by":"publisher","first-page":"1388","DOI":"10.1038\/s41587-022-01255-9","volume":"40","author":"B Liu","year":"2022","unstructured":"Liu B, Dong X, Cheng H, Zheng C, Chen Z, Rodr\u00edguez TC, Liang SQ, Xue W, Sontheimer EJ (2022) A split prime editor with untethered reverse transcriptase and circular RNA template. Nat Biotechnol 40:1388\u20131393. https:\/\/doi.org\/10.1038\/s41587-022-01255-9","journal-title":"Nat Biotechnol"},{"key":"2610_CR88","doi-asserted-by":"publisher","DOI":"10.1097\/01.HS9.0000968000.61396.5e","author":"R Liu","year":"2023","unstructured":"Liu R, Wang LI, Xu H, Yin X, Liang J, Xie W, Yang G, Li Y, Zhou Y, Shi L, Xiao B, Shi L, Shi Z, Zhou X, Fang J, Xu X, Lai Y, Huang J, Zhang X (2023) S272: safety and efficacy of rm-001 in patients with transfusion-dependent \u03b2-thalassemia: early results from the ongoing of autologous HBG1\/2 promoter-modified cd34+ hematopoietic stem and progenitor cells. Hemasphere. https:\/\/doi.org\/10.1097\/01.HS9.0000968000.61396.5e","journal-title":"Hemasphere"},{"key":"2610_CR89","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1056\/NEJMoa2113206","volume":"386","author":"F Locatelli","year":"2022","unstructured":"Locatelli F, Thompson AA, Kwiatkowski JL, Porter JB, Thrasher AJ, Hongeng S, Sauer MG, Thuret I, Lal A, Algeri M, Schneiderman J, Olson TS, Carpenter B, Amrolia PJ, Anurathapan U, Schambach A, Chabannon C, Schmidt M, Labik I, Elliot H, Guo R, Asmal M, Colvin RA, Walters MC (2022) Betibeglogene autotemcel gene therapy for Non-\u03b2(0)\/\u03b2(0) genotype \u03b2-thalassemia. N Engl J Med 386:415\u2013427. https:\/\/doi.org\/10.1056\/NEJMoa2113206","journal-title":"N Engl J Med"},{"key":"2610_CR90","doi-asserted-by":"publisher","first-page":"1427","DOI":"10.3324\/haematol.2020.278238","volume":"107","author":"D Lu","year":"2022","unstructured":"Lu D, Gong X, Fang Y, Guo X, Chen Y, Yang F, Zhao G, Ma Q, Zeng Y, Zeng F (2022a) Correction of RNA splicing defect in \u03b2(654)-thalassemia mice using CRISPR\/Cas9 gene-editing technology. Haematologica 107:1427\u20131437. https:\/\/doi.org\/10.3324\/haematol.2020.278238","journal-title":"Haematologica"},{"key":"2610_CR91","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.881937","volume":"13","author":"D Lu","year":"2022","unstructured":"Lu D, Xu Z, Peng Z, Yang Y, Song B, Xiong Z, Ma Z, Guan H, Chen B, Nakamura Y, Zeng J, Liu N, Sun X, Chen D (2022b) Induction of fetal hemoglobin by introducing natural hereditary persistence of fetal hemoglobin mutations in the gamma-globin gene promoters for genome editing therapies for beta-thalassemia. Front Genet 13:881937. https:\/\/doi.org\/10.3389\/fgene.2022.881937","journal-title":"Front Genet"},{"key":"2610_CR92","doi-asserted-by":"publisher","first-page":"3181","DOI":"10.1016\/j.celrep.2016.08.064","volume":"16","author":"S Luc","year":"2016","unstructured":"Luc S, Huang J, McEldoon JL, Somuncular E, Li D, Rhodes C, Mamoor S, Hou S, Xu J, Orkin SH (2016) Bcl11a deficiency leads to hematopoietic stem cell defects with an aging-like phenotype. Cell Rep 16:3181\u20133194. https:\/\/doi.org\/10.1016\/j.celrep.2016.08.064","journal-title":"Cell Rep"},{"key":"2610_CR93","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1080\/17425247.2018.1517746","volume":"15","author":"DC Luther","year":"2018","unstructured":"Luther DC, Lee YW, Nagaraj H, Scaletti F, Rotello VM (2018) Delivery approaches for CRISPR\/Cas9 therapeutics in vivo: advances and challenges. Expert Opin Drug Deliv 15:905\u2013913. https:\/\/doi.org\/10.1080\/17425247.2018.1517746","journal-title":"Expert Opin Drug Deliv"},{"key":"2610_CR94","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/j.omtm.2018.12.008","volume":"12","author":"CT Lux","year":"2019","unstructured":"Lux CT, Pattabhi S, Berger M, Nourigat C, Flowers DA, Negre O, Humbert O, Yang JG, Lee C, Jacoby K, Bernstein I, Kiem HP, Scharenberg A, Rawlings DJ (2019) TALEN-Mediated gene editing of HBG in human hematopoietic stem cells leads to therapeutic fetal hemoglobin induction. Mol Ther Methods Clin Dev 12:175\u2013183. https:\/\/doi.org\/10.1016\/j.omtm.2018.12.008","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2610_CR95","doi-asserted-by":"publisher","first-page":"34671","DOI":"10.1074\/jbc.M113.496174","volume":"288","author":"N Ma","year":"2013","unstructured":"Ma N, Liao B, Zhang H, Wang L, Shan Y, Xue Y, Huang K, Chen S, Zhou X, Chen Y, Pei D, Pan G (2013) Transcription activator-like effector nuclease (TALEN)-mediated gene correction in integration-free \u03b2-thalassemia induced pluripotent stem cells. J Biol Chem 288:34671\u201334679. https:\/\/doi.org\/10.1074\/jbc.M113.496174","journal-title":"J Biol Chem"},{"key":"2610_CR96","doi-asserted-by":"publisher","first-page":"722","DOI":"10.1038\/nrmicro3569","volume":"13","author":"KS Makarova","year":"2015","unstructured":"Makarova KS, Wolf YI, Alkhnbashi OS, Costa F, Shah SA, Saunders SJ, Barrangou R, Brouns SJ, Charpentier E, Haft DH, Horvath P, Moineau S, Mojica FJ, Terns RM, Terns MP, White MF, Yakunin AF, Garrett RA, van der Oost J, Backofen R, Koonin EV (2015) An updated evolutionary classification of CRISPR-Cas systems. Nat Rev Microbiol 13:722\u2013736. https:\/\/doi.org\/10.1038\/nrmicro3569","journal-title":"Nat Rev Microbiol"},{"key":"2610_CR97","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1089\/hum.2016.037","volume":"27","author":"J Mansilla-Soto","year":"2016","unstructured":"Mansilla-Soto J, Riviere I, Boulad F, Sadelain M (2016) Cell and gene therapy for the beta-thalassemias: advances and prospects. Hum Gene Ther 27:295\u2013304. https:\/\/doi.org\/10.1089\/hum.2016.037","journal-title":"Hum Gene Ther"},{"key":"2610_CR98","doi-asserted-by":"publisher","first-page":"498","DOI":"10.1038\/s41588-018-0085-0","volume":"50","author":"GE Martyn","year":"2018","unstructured":"Martyn GE, Wienert B, Yang L, Shah M, Norton LJ, Burdach J, Kurita R, Nakamura Y, Pearson RCM, Funnell APW, Quinlan KGR, Crossley M (2018) Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding. Nat Genet 50:498\u2013503. https:\/\/doi.org\/10.1038\/s41588-018-0085-0","journal-title":"Nat Genet"},{"key":"2610_CR99","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1182\/blood-2018-07-863951","volume":"133","author":"GE Martyn","year":"2019","unstructured":"Martyn GE, Wienert B, Kurita R, Nakamura Y, Quinlan KGR, Crossley M (2019) A natural regulatory mutation in the proximal promoter elevates fetal globin expression by creating a de novo GATA1 site. Blood 133:852\u2013856. https:\/\/doi.org\/10.1182\/blood-2018-07-863951","journal-title":"Blood"},{"key":"2610_CR100","doi-asserted-by":"publisher","first-page":"263","DOI":"10.2147\/jbm.S87955","volume":"7","author":"B McColl","year":"2016","unstructured":"McColl B, Vadolas J (2016) Animal models of \u03b2-hemoglobinopathies: utility and limitations. J Blood Med 7:263\u2013274. https:\/\/doi.org\/10.2147\/jbm.S87955","journal-title":"J Blood Med"},{"key":"2610_CR101","doi-asserted-by":"publisher","DOI":"10.1093\/genetics\/iyab199","author":"JC Medley","year":"2022","unstructured":"Medley JC, Hebbar S, Sydzyik JT, Zinovyeva AY (2022) Single nucleotide substitutions effectively block Cas9 and allow for scarless genome editing in Caenorhabditis elegans. Genetics. https:\/\/doi.org\/10.1093\/genetics\/iyab199","journal-title":"Genetics"},{"key":"2610_CR102","doi-asserted-by":"publisher","first-page":"1939","DOI":"10.1007\/s12015-021-10272-1","volume":"17","author":"JB Menendez-Gonzalez","year":"2021","unstructured":"Menendez-Gonzalez JB, Hoggatt J (2021) Hematopoietic stem cell mobilization: current collection approaches, stem cell heterogeneity, and a proposed new method for stem cell transplant conditioning. Stem Cell Rev Rep 17:1939\u20131953. https:\/\/doi.org\/10.1007\/s12015-021-10272-1","journal-title":"Stem Cell Rev Rep"},{"key":"2610_CR103","doi-asserted-by":"publisher","first-page":"3379","DOI":"10.1182\/bloodadvances.2019000820","volume":"3","author":"JY M\u00e9tais","year":"2019","unstructured":"M\u00e9tais JY, Doerfler PA, Mayuranathan T, Bauer DE, Fowler SC, Hsieh MM, Katta V, Keriwala S, Lazzarotto CR, Luk K, Neel MD, Perry SS, Peters ST, Porter SN, Ryu BY, Sharma A, Shea D, Tisdale JF, Uchida N, Wolfe SA, Woodard KJ, Wu Y, Yao Y, Zeng J, Pruett-Miller S, Tsai SQ, Weiss MJ (2019) Genome editing of HBG1 and HBG2 to induce fetal hemoglobin. Blood Adv 3:3379\u20133392. https:\/\/doi.org\/10.1182\/bloodadvances.2019000820","journal-title":"Blood Adv"},{"key":"2610_CR104","doi-asserted-by":"publisher","first-page":"3694","DOI":"10.1182\/blood-2015-03-633594","volume":"125","author":"S Mettananda","year":"2015","unstructured":"Mettananda S, Gibbons RJ, Higgs DR (2015) \u03b1-Globin as a molecular target in the treatment of \u03b2-thalassemia. Blood 125:3694\u20133701. https:\/\/doi.org\/10.1182\/blood-2015-03-633594","journal-title":"Blood"},{"key":"2610_CR105","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1111\/nyas.12988","volume":"1368","author":"S Mettananda","year":"2016","unstructured":"Mettananda S, Gibbons RJ, Higgs DR (2016) Understanding \u03b1-globin gene regulation and implications for the treatment of \u03b2-thalassemia. Ann N Y Acad Sci 1368:16\u201324. https:\/\/doi.org\/10.1111\/nyas.12988","journal-title":"Ann N Y Acad Sci"},{"key":"2610_CR106","doi-asserted-by":"publisher","first-page":"424","DOI":"10.1038\/s41467-017-00479-7","volume":"8","author":"S Mettananda","year":"2017","unstructured":"Mettananda S, Fisher CA, Hay D, Badat M, Quek L, Clark K, Hublitz P, Downes D, Kerry J, Gosden M, Telenius J, Sloane-Stanley JA, Faustino P, Coelho A, Doondeea J, Usukhbayar B, Sopp P, Sharpe JA, Hughes JR, Vyas P, Gibbons RJ, Higgs DR (2017) Editing an \u03b1-globin enhancer in primary human hematopoietic stem cells as a treatment for \u03b2-thalassemia. Nat Commun 8:424. https:\/\/doi.org\/10.1038\/s41467-017-00479-7","journal-title":"Nat Commun"},{"key":"2610_CR107","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1038\/s41375-018-0106-0","volume":"32","author":"MC Milone","year":"2018","unstructured":"Milone MC, O\u2019Doherty U (2018) Clinical use of lentiviral vectors. Leukemia 32:1529\u20131541. https:\/\/doi.org\/10.1038\/s41375-018-0106-0","journal-title":"Leukemia"},{"key":"2610_CR108","doi-asserted-by":"publisher","first-page":"1420","DOI":"10.1002\/jcb.29377","volume":"121","author":"A Monireh","year":"2020","unstructured":"Monireh A, Amir A, Saeid K, Jafar K, Masoud S (2020) Generation of an in vitro model of \u03b2-thalassemia using the CRISPR\/Cas9 genome editing system. J Cell Biochem 121:1420\u20131430","journal-title":"J Cell Biochem"},{"key":"2610_CR109","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11040907","author":"O Mulas","year":"2022","unstructured":"Mulas O, Mola B, Caocci G, La Nasa G (2022) Conditioning regimens in patients with \u03b2-thalassemia who underwent hematopoietic stem cell transplantation: a scoping review. J Clin Med. https:\/\/doi.org\/10.3390\/jcm11040907","journal-title":"J Clin Med"},{"key":"2610_CR110","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1172\/jci107779","volume":"54","author":"CL Natta","year":"1974","unstructured":"Natta CL, Niazi GA, Ford S, Bank A (1974) Balanced globin chain synthesis in hereditary persistence of fetal hemoglobin. J Clin Invest 54:433\u2013438. https:\/\/doi.org\/10.1172\/jci107779","journal-title":"J Clin Invest"},{"key":"2610_CR111","doi-asserted-by":"publisher","first-page":"402","DOI":"10.1038\/s41587-021-01039-7","volume":"40","author":"JW Nelson","year":"2022","unstructured":"Nelson JW, Randolph PB, Shen SP, Everette KA, Chen PJ, Anzalone AV, An M, Newby GA, Chen JC, Hsu A, Liu DR (2022) Engineered pegRNAs improve prime editing efficiency. Nat Biotechnol 40:402\u2013410. https:\/\/doi.org\/10.1038\/s41587-021-01039-7","journal-title":"Nat Biotechnol"},{"key":"2610_CR112","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1038\/s41586-021-03609-w","volume":"595","author":"GA Newby","year":"2021","unstructured":"Newby GA, Yen JS, Woodard KJ, Mayuranathan T, Lazzarotto CR, Li Y, Sheppard-Tillman H, Porter SN, Yao Y, Mayberry K, Everette KA, Jang Y, Podracky CJ, Thaman E, Lechauve C, Sharma A, Henderson JM, Richter MF, Zhao KT, Miller SM, Wang T, Koblan LW, McCaffrey AP, Tisdale JF, Kalfa TA, Pruett-Miller SM, Tsai SQ, Weiss MJ, Liu DR (2021) Base editing of haematopoietic stem cells rescues sickle cell disease in mice. Nature 595:295\u2013302. https:\/\/doi.org\/10.1038\/s41586-021-03609-w","journal-title":"Nature"},{"key":"2610_CR113","doi-asserted-by":"publisher","first-page":"16576","DOI":"10.1074\/jbc.M116.719237","volume":"291","author":"X Niu","year":"2016","unstructured":"Niu X, He W, Song B, Ou Z, Fan D, Chen Y, Fan Y, Sun X (2016) Combining single strand oligodeoxynucleotides and CRISPR\/Cas9 to correct gene mutations in \u03b2-thalassemia-induced pluripotent stem cells. J Biol Chem 291:16576\u201316585. https:\/\/doi.org\/10.1074\/jbc.M116.719237","journal-title":"J Biol Chem"},{"key":"2610_CR114","doi-asserted-by":"publisher","first-page":"7672","DOI":"10.1038\/s41598-019-43964-3","volume":"9","author":"T Nualkaew","year":"2019","unstructured":"Nualkaew T, Jearawiriyapaisarn N, Hongeng S, Fucharoen S, Kole R, Svasti S (2019) Restoration of correct \u03b2(IVS2-654)-globin mRNA splicing and HbA production by engineered U7 snRNA in \u03b2-thalassaemia\/HbE erythroid cells. Sci Rep 9:7672. https:\/\/doi.org\/10.1038\/s41598-019-43964-3","journal-title":"Sci Rep"},{"key":"2610_CR115","doi-asserted-by":"publisher","first-page":"2841","DOI":"10.1016\/j.ymthe.2021.04.037","volume":"29","author":"T Nualkaew","year":"2021","unstructured":"Nualkaew T, Sii-Felice K, Giorgi M, McColl B, Gouzil J, Glaser A, Voon HPJ, Tee HY, Grigoriadis G, Svasti S, Fucharoen S, Hongeng S, Leboulch P, Payen E, Vadolas J (2021) Coordinated \u03b2-globin expression and \u03b12-globin reduction in a multiplex lentiviral gene therapy vector for \u03b2-thalassemia. Mol Ther 29:2841\u20132853. https:\/\/doi.org\/10.1016\/j.ymthe.2021.04.037","journal-title":"Mol Ther"},{"key":"2610_CR116","doi-asserted-by":"publisher","first-page":"32463","DOI":"10.1038\/srep32463","volume":"6","author":"Z Ou","year":"2016","unstructured":"Ou Z, Niu X, He W, Chen Y, Song B, Xian Y, Fan D, Tang D, Sun X (2016) The Combination of CRISPR\/Cas9 and iPSC technologies in the gene therapy of human \u03b2-thalassemia in mice. Sci Rep 6:32463. https:\/\/doi.org\/10.1038\/srep32463","journal-title":"Sci Rep"},{"key":"2610_CR117","doi-asserted-by":"publisher","first-page":"e419","DOI":"10.3324\/haematol.2018.189357","volume":"103","author":"P Patsali","year":"2018","unstructured":"Patsali P, Papasavva P, Stephanou C, Christou S, Sitarou M, Antoniou MN, Lederer CW, Kleanthous M (2018) Short-hairpin RNA against aberrant HBB(IVSI-110(G>A)) mRNA restores \u03b2-globin levels in a novel cell model and acts as mono- and combination therapy for \u03b2-thalassemia in primary hematopoietic stem cells. Haematologica 103:e419\u2013e423. https:\/\/doi.org\/10.3324\/haematol.2018.189357","journal-title":"Haematologica"},{"key":"2610_CR118","doi-asserted-by":"publisher","first-page":"1137","DOI":"10.1182\/bloodadvances.2020001996","volume":"5","author":"G Pavani","year":"2021","unstructured":"Pavani G, Fabiano A, Laurent M, Amor F, Cantelli E, Chalumeau A, Maule G, Tachtsidi A, Concordet JP, Cereseto A, Mavilio F, Ferrari G, Miccio A, Amendola M (2021) Correction of beta-thalassemia by CRISPR\/Cas9 editing of the alpha-globin locus in human hematopoietic stem cells. Blood Adv 5:1137\u20131153. https:\/\/doi.org\/10.1182\/bloodadvances.2020001996","journal-title":"Blood Adv"},{"key":"2610_CR119","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1182\/asheducation-2012.1.276","volume":"2012","author":"E Payen","year":"2012","unstructured":"Payen E, Leboulch P (2012) Advances in stem cell transplantation and gene therapy in the \u03b2-hemoglobinopathies. Hematol Am Soc Hematol Educ Program 2012:276\u2013283. https:\/\/doi.org\/10.1182\/asheducation-2012.1.276","journal-title":"Hematol Am Soc Hematol Educ Program"},{"key":"2610_CR120","doi-asserted-by":"publisher","first-page":"313","DOI":"10.1016\/j.omtm.2018.08.003","volume":"10","author":"N Psatha","year":"2018","unstructured":"Psatha N, Reik A, Phelps S, Zhou Y, Dalas D, Yannaki E, Levasseur DN, Urnov FD, Holmes MC, Papayannopoulou T (2018) Disruption of the BCL11A erythroid enhancer reactivates fetal hemoglobin in erythroid cells of patients with \u03b2-thalassemia major. Mol Ther Methods Clin Dev 10:313\u2013326. https:\/\/doi.org\/10.1016\/j.omtm.2018.08.003","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2610_CR121","doi-asserted-by":"publisher","first-page":"1540","DOI":"10.1182\/blood.2020010020","volume":"138","author":"N Psatha","year":"2021","unstructured":"Psatha N, Georgakopoulou A, Li C, Nandakumar V, Georgolopoulos G, Acosta R, Paschoudi K, Nelson J, Chee D, Athanasiadou A, Kouvatsi A, Funnell APW, Lieber A, Yannaki E, Papayannopoulou T (2021) Enhanced HbF reactivation by multiplex mutagenesis of thalassemic CD34+ cells in vitro and in vivo. Blood 138:1540\u20131553. https:\/\/doi.org\/10.1182\/blood.2020010020","journal-title":"Blood"},{"key":"2610_CR122","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1038\/s41588-022-01076-1","volume":"54","author":"K Qin","year":"2022","unstructured":"Qin K, Huang P, Feng R, Keller CA, Peslak SA, Khandros E, Saari MS, Lan X, Mayuranathan T, Doerfler PA, Abdulmalik O, Giardine B, Chou ST, Shi J, Hardison RC, Weiss MJ, Blobel GA (2022) Dual function NFI factors control fetal hemoglobin silencing in adult erythroid cells. Nat Genet 54:874\u2013884. https:\/\/doi.org\/10.1038\/s41588-022-01076-1","journal-title":"Nat Genet"},{"key":"2610_CR123","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1016\/j.semcdb.2019.05.014","volume":"96","author":"S Rahman","year":"2019","unstructured":"Rahman S, Datta M, Kim J, Jan AT (2019) CRISPR\/Cas: An intriguing genomic editing tool with prospects in treating neurodegenerative diseases. Semin Cell Dev Biol 96:22\u201331. https:\/\/doi.org\/10.1016\/j.semcdb.2019.05.014","journal-title":"Semin Cell Dev Biol"},{"key":"2610_CR124","doi-asserted-by":"publisher","first-page":"3065","DOI":"10.1182\/blood-2014-03-558825","volume":"124","author":"V Ramos-Mej\u00eda","year":"2014","unstructured":"Ramos-Mej\u00eda V, Navarro-Montero O, Ayll\u00f3n V, Bueno C, Romero T, Real PJ, Menendez P (2014) HOXA9 promotes hematopoietic commitment of human embryonic stem cells. Blood 124:3065\u20133075. https:\/\/doi.org\/10.1182\/blood-2014-03-558825","journal-title":"Blood"},{"key":"2610_CR125","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/bs.pmbts.2021.01.002","volume":"178","author":"S Randhawa","year":"2021","unstructured":"Randhawa S, Sengar S (2021) The evolution and history of gene editing technologies. Prog Mol Biol Transl Sci 178:1\u201362. https:\/\/doi.org\/10.1016\/bs.pmbts.2021.01.002","journal-title":"Prog Mol Biol Transl Sci"},{"key":"2610_CR126","doi-asserted-by":"publisher","first-page":"3683","DOI":"10.1093\/nar\/gkh703","volume":"32","author":"N Saleh-Gohari","year":"2004","unstructured":"Saleh-Gohari N, Helleday T (2004) Conservative homologous recombination preferentially repairs DNA double-strand breaks in the S phase of the cell cycle in human cells. Nucleic Acids Res 32:3683\u20133688. https:\/\/doi.org\/10.1093\/nar\/gkh703","journal-title":"Nucleic Acids Res"},{"key":"2610_CR127","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1016\/j.omtm.2021.10.008","volume":"23","author":"C Samuelson","year":"2021","unstructured":"Samuelson C, Radtke S, Zhu H, Llewellyn M, Fields E, Cook S, Huang MW, Jerome KR, Kiem HP, Humbert O (2021) Multiplex CRISPR\/Cas9 genome editing in hematopoietic stem cells for fetal hemoglobin reinduction generates chromosomal translocations. Mol Ther Methods Clin Dev 23:507\u2013523. https:\/\/doi.org\/10.1016\/j.omtm.2021.10.008","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2610_CR128","doi-asserted-by":"publisher","first-page":"1839","DOI":"10.1126\/science.1165409","volume":"322","author":"VG Sankaran","year":"2008","unstructured":"Sankaran VG, Menne TF, Xu J, Akie TE, Lettre G, Van Handel B, Mikkola HK, Hirschhorn JN, Cantor AB, Orkin SH (2008) Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science 322:1839\u20131842. https:\/\/doi.org\/10.1126\/science.1165409","journal-title":"Science"},{"key":"2610_CR129","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1056\/NEJMoa1103070","volume":"365","author":"VG Sankaran","year":"2011","unstructured":"Sankaran VG, Xu J, Byron R, Greisman HA, Fisher C, Weatherall DJ, Sabath DE, Groudine M, Orkin SH, Premawardhena A, Bender MA (2011) A functional element necessary for fetal hemoglobin silencing. N Engl J Med 365:807\u2013814. https:\/\/doi.org\/10.1056\/NEJMoa1103070","journal-title":"N Engl J Med"},{"key":"2610_CR130","doi-asserted-by":"publisher","first-page":"294","DOI":"10.1002\/jgm.2928","volume":"18","author":"L Shariati","year":"2016","unstructured":"Shariati L, Khanahmad H, Salehi M, Hejazi Z, Rahimmanesh I, Tabatabaiefar MA, Modarressi MH (2016) Genetic disruption of the KLF1 gene to overexpress the \u03b3-globin gene using the CRISPR\/Cas9 system. J Gene Med 18:294\u2013301. https:\/\/doi.org\/10.1002\/jgm.2928","journal-title":"J Gene Med"},{"key":"2610_CR131","doi-asserted-by":"publisher","first-page":"9357","DOI":"10.1002\/jcb.27253","volume":"119","author":"L Shariati","year":"2018","unstructured":"Shariati L, Rohani F, Heidari Hafshejani N, Kouhpayeh S, Boshtam M, Mirian M, Rahimmanesh I, Hejazi Z, Modarres M, Pieper IL, Khanahmad H (2018) Disruption of SOX6 gene using CRISPR\/Cas9 technology for gamma-globin reactivation: an approach towards gene therapy of \u03b2-thalassemia. J Cell Biochem 119:9357\u20139363. https:\/\/doi.org\/10.1002\/jcb.27253","journal-title":"J Cell Biochem"},{"key":"2610_CR132","doi-asserted-by":"publisher","first-page":"4565","DOI":"10.1002\/j.1460-2075.1992.tb05558.x","volume":"11","author":"JA Sharpe","year":"1992","unstructured":"Sharpe JA, Chan-Thomas PS, Lida J, Ayyub H, Wood WG, Higgs DR (1992) Analysis of the human alpha globin upstream regulatory element (HS-40) in transgenic mice. Embo j 11:4565\u20134572","journal-title":"Embo j"},{"key":"2610_CR133","doi-asserted-by":"publisher","first-page":"3544","DOI":"10.1182\/blood-2019-125743","volume":"134","author":"AR Smith","year":"2019","unstructured":"Smith AR, Schiller GJ, Vercellotti GM, Kwiatkowski JL, Krishnamurti L, Esrick EB, Williams DA, Miller WP, Woolfson A, Walters MC (2019) Preliminary results of a phase 1\/2 clinical study of zinc finger nuclease-mediated editing of BCL11A in autologous hematopoietic stem cells for transfusion-dependent beta thalassemia. Blood 134:3544\u20133544. https:\/\/doi.org\/10.1182\/blood-2019-125743","journal-title":"Blood"},{"key":"2610_CR134","doi-asserted-by":"publisher","first-page":"1053","DOI":"10.1089\/scd.2014.0347","volume":"24","author":"B Song","year":"2015","unstructured":"Song B, Fan Y, He W, Zhu D, Niu X, Wang D, Ou Z, Luo M, Sun X (2015) Improved hematopoietic differentiation efficiency of gene-corrected beta-thalassemia induced pluripotent stem cells by CRISPR\/Cas9 system. Stem Cells Dev 24:1053\u20131065. https:\/\/doi.org\/10.1089\/scd.2014.0347","journal-title":"Stem Cells Dev"},{"key":"2610_CR135","doi-asserted-by":"publisher","first-page":"1856","DOI":"10.1016\/j.cell.2018.10.045","volume":"175","author":"S Stella","year":"2018","unstructured":"Stella S, Mesa P, Thomsen J, Paul B, Alc\u00f3n P, Jensen SB, Saligram B, Moses ME, Hatzakis NS, Montoya G (2018) Conformational activation promotes CRISPR-Cas12a catalysis and resetting of the endonuclease activity. Cell 175:1856-1871.e21. https:\/\/doi.org\/10.1016\/j.cell.2018.10.045","journal-title":"Cell"},{"key":"2610_CR136","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.cell.2010.11.055","volume":"144","author":"PJ Stephens","year":"2011","unstructured":"Stephens PJ, Greenman CD, Fu B, Yang F, Bignell GR, Mudie LJ, Pleasance ED, Lau KW, Beare D, Stebbings LA, McLaren S, Lin ML, McBride DJ, Varela I, Nik-Zainal S, Leroy C, Jia M, Menzies A, Butler AP, Teague JW, Quail MA, Burton J, Swerdlow H, Carter NP, Morsberger LA, Iacobuzio-Donahue C, Follows GA, Green AR, Flanagan AM, Stratton MR, Futreal PA, Campbell PJ (2011) Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell 144:27\u201340. https:\/\/doi.org\/10.1016\/j.cell.2010.11.055","journal-title":"Cell"},{"key":"2610_CR137","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1006\/mthe.2002.0805","volume":"6","author":"T Suwanmanee","year":"2002","unstructured":"Suwanmanee T, Sierakowska H, Fucharoen S, Kole R (2002a) Repair of a splicing defect in erythroid cells from patients with beta-thalassemia\/HbE disorder. Mol Ther 6:718\u2013726. https:\/\/doi.org\/10.1006\/mthe.2002.0805","journal-title":"Mol Ther"},{"key":"2610_CR138","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1124\/mol.62.3.545","volume":"62","author":"T Suwanmanee","year":"2002","unstructured":"Suwanmanee T, Sierakowska H, Lacerra G, Svasti S, Kirby S, Walsh CE, Fucharoen S, Kole R (2002b) Restoration of human beta-globin gene expression in murine and human IVS2-654 thalassemic erythroid cells by free uptake of antisense oligonucleotides. Mol Pharmacol 62:545\u2013553. https:\/\/doi.org\/10.1124\/mol.62.3.545","journal-title":"Mol Pharmacol"},{"key":"2610_CR139","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/s0140-6736(17)31822-6","volume":"391","author":"AT Taher","year":"2018","unstructured":"Taher AT, Weatherall DJ, Cappellini MD (2018) Thalassaemia. Lancet 391:155\u2013167. https:\/\/doi.org\/10.1016\/s0140-6736(17)31822-6","journal-title":"Lancet"},{"key":"2610_CR140","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1056\/NEJMra2021838","volume":"384","author":"AT Taher","year":"2021","unstructured":"Taher AT, Musallam KM, Cappellini MD (2021) \u03b2-Thalassemias. N Engl J Med 384:727\u2013743. https:\/\/doi.org\/10.1056\/NEJMra2021838","journal-title":"N Engl J Med"},{"key":"2610_CR141","doi-asserted-by":"publisher","first-page":"6423","DOI":"10.1093\/nar\/gkac506","volume":"50","author":"R Tao","year":"2022","unstructured":"Tao R, Wang Y, Jiao Y, Hu Y, Li L, Jiang L, Zhou L, Qu J, Chen Q, Yao S (2022) Bi-PE: bi-directional priming improves CRISPR\/Cas9 prime editing in mammalian cells. Nucleic Acids Res 50:6423\u20136434. https:\/\/doi.org\/10.1093\/nar\/gkac506","journal-title":"Nucleic Acids Res"},{"key":"2610_CR142","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a011700","volume":"3","author":"SL Thein","year":"2013","unstructured":"Thein SL (2013) The molecular basis of \u03b2-thalassemia. Cold Spring Harb Perspect Med 3:a011700. https:\/\/doi.org\/10.1101\/cshperspect.a011700","journal-title":"Cold Spring Harb Perspect Med"},{"key":"2610_CR143","doi-asserted-by":"publisher","first-page":"1479","DOI":"10.1056\/NEJMoa1705342","volume":"378","author":"AA Thompson","year":"2018","unstructured":"Thompson AA, Walters MC, Kwiatkowski J, Rasko JEJ, Ribeil JA, Hongeng S, Magrin E, Schiller GJ, Payen E, Semeraro M, Moshous D, Lefrere F, Puy H, Bourget P, Magnani A, Caccavelli L, Diana JS, Suarez F, Monpoux F, Brousse V, Poirot C, Brouzes C, Meritet JF, Pondarr\u00e9 C, Beuzard Y, Chr\u00e9tien S, Lefebvre T, Teachey DT, Anurathapan U, Ho PJ, von Kalle C, Kletzel M, Vichinsky E, Soni S, Veres G, Negre O, Ross RW, Davidson D, Petrusich A, Sandler L, Asmal M, Hermine O, De Montalembert M, Hacein-Bey-Abina S, Blanche S, Leboulch P, Cavazzana M (2018) Gene therapy in patients with transfusion-dependent \u03b2-thalassemia. N Engl J Med 378:1479\u20131493. https:\/\/doi.org\/10.1056\/NEJMoa1705342","journal-title":"N Engl J Med"},{"key":"2610_CR144","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.1126\/science.282.5391.1145","volume":"282","author":"JA Thomson","year":"1998","unstructured":"Thomson JA, Itskovitz-Eldor J, Shapiro SS, Waknitz MA, Swiergiel JJ, Marshall VS, Jones JM (1998) Embryonic stem cell lines derived from human blastocysts. Science 282:1145\u20131147. https:\/\/doi.org\/10.1126\/science.282.5391.1145","journal-title":"Science"},{"key":"2610_CR145","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-022-01595-6","author":"H Tong","year":"2023","unstructured":"Tong H, Wang X, Liu Y, Liu N, Li Y, Luo J, Ma Q, Wu D, Li J, Xu C, Yang H (2023) Programmable A-to-Y base editing by fusing an adenine base editor with an N-methylpurine DNA glycosylase. Nat Biotechnol. https:\/\/doi.org\/10.1038\/s41587-022-01595-6","journal-title":"Nat Biotechnol"},{"key":"2610_CR146","doi-asserted-by":"publisher","first-page":"2107","DOI":"10.1182\/blood.2021014205","volume":"139","author":"SK Topfer","year":"2022","unstructured":"Topfer SK, Feng R, Huang P, Ly LC, Martyn GE, Blobel GA, Weiss MJ, Quinlan KGR, Crossley M (2022) Disrupting the adult globin promoter alleviates promoter competition and reactivates fetal globin gene expression. Blood 139:2107\u20132118. https:\/\/doi.org\/10.1182\/blood.2021014205","journal-title":"Blood"},{"key":"2610_CR147","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0100874","volume":"9","author":"K Trakarnsanga","year":"2014","unstructured":"Trakarnsanga K, Wilson MC, Griffiths RE, Toye AM, Carpenter L, Heesom KJ, Parsons SF, Anstee DJ, Frayne J (2014) Qualitative and quantitative comparison of the proteome of erythroid cells differentiated from human iPSCs and adult erythroid cells by multiplex TMT labelling and nanoLC-MS\/MS. PLoS ONE 9:e100874. https:\/\/doi.org\/10.1371\/journal.pone.0100874","journal-title":"PLoS ONE"},{"key":"2610_CR148","doi-asserted-by":"publisher","first-page":"987","DOI":"10.1038\/nm.4170","volume":"22","author":"EA Traxler","year":"2016","unstructured":"Traxler EA, Yao Y, Wang YD, Woodard KJ, Kurita R, Nakamura Y, Hughes JR, Hardison RC, Blobel GA, Li C, Weiss MJ (2016) A genome-editing strategy to treat \u03b2-hemoglobinopathies that recapitulates a mutation associated with a benign genetic condition. Nat Med 22:987\u2013990. https:\/\/doi.org\/10.1038\/nm.4170","journal-title":"Nat Med"},{"key":"2610_CR149","doi-asserted-by":"publisher","first-page":"5183","DOI":"10.1038\/s41467-023-40901-x","volume":"14","author":"HH Tsai","year":"2023","unstructured":"Tsai HH, Kao HJ, Kuo MW, Lin CH, Chang CM, Chen YY, Chen HH, Kwok PY, Yu AL, Yu J (2023) Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing. Nat Commun 14:5183. https:\/\/doi.org\/10.1038\/s41467-023-40901-x","journal-title":"Nat Commun"},{"key":"2610_CR150","doi-asserted-by":"publisher","first-page":"1620","DOI":"10.1073\/pnas.0711566105","volume":"105","author":"M Uda","year":"2008","unstructured":"Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A (2008) Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A 105:1620\u20131625. https:\/\/doi.org\/10.1073\/pnas.0711566105","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2610_CR151","doi-asserted-by":"publisher","first-page":"927","DOI":"10.1038\/nmeth.3554","volume":"12","author":"J Vierstra","year":"2015","unstructured":"Vierstra J, Reik A, Chang KH, Stehling-Sun S, Zhou Y, Hinkley SJ, Paschon DE, Zhang L, Psatha N, Bendana YR, O\u2019Neil CM, Song AH, Mich AK, Liu PQ, Lee G, Bauer DE, Holmes MC, Orkin SH, Papayannopoulou T, Stamatoyannopoulos G, Rebar EJ, Gregory PD, Urnov FD, Stamatoyannopoulos JA (2015) Functional footprinting of regulatory DNA. Nat Methods 12:927\u2013930. https:\/\/doi.org\/10.1038\/nmeth.3554","journal-title":"Nat Methods"},{"key":"2610_CR152","doi-asserted-by":"publisher","first-page":"719","DOI":"10.1038\/s41588-021-00843-w","volume":"53","author":"DS Vinjamur","year":"2021","unstructured":"Vinjamur DS, Yao Q, Cole MA, McGuckin C, Ren C, Zeng J, Hossain M, Luk K, Wolfe SA, Pinello L, Bauer DE (2021) ZNF410 represses fetal globin by singular control of CHD4. Nat Genet 53:719\u2013728. https:\/\/doi.org\/10.1038\/s41588-021-00843-w","journal-title":"Nat Genet"},{"key":"2610_CR153","doi-asserted-by":"publisher","first-page":"5956","DOI":"10.1182\/bloodadvances.2022007904","volume":"6","author":"A Wakabayashi","year":"2022","unstructured":"Wakabayashi A, Kihiu M, Sharma M, Thrasher AJ, Saari MS, Quesnel-Vallieres M, Abdulmalik O, Peslak SA, Khandros E, Keller CA, Giardine BM, Barash Y, Hardison RC, Shi J, Blobel GA (2022) Identification and characterization of RBM12 as a novel regulator of fetal hemoglobin expression. Blood Adv 6:5956\u20135968. https:\/\/doi.org\/10.1182\/bloodadvances.2022007904","journal-title":"Blood Adv"},{"key":"2610_CR154","doi-asserted-by":"publisher","first-page":"478","DOI":"10.1038\/s41588-018-0094-z","volume":"50","author":"X Wang","year":"2018","unstructured":"Wang X, Thein SL (2018) Switching from fetal to adult hemoglobin. Nat Genet 50:478\u2013480. https:\/\/doi.org\/10.1038\/s41588-018-0094-z","journal-title":"Nat Genet"},{"key":"2610_CR155","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1038\/s41422-019-0267-z","volume":"30","author":"L Wang","year":"2020","unstructured":"Wang L, Li L, Ma Y, Hu H, Li Q, Yang Y, Liu W, Yin S, Li W, Fu B, Kurita R, Nakamura Y, Liu M, Lai Y, Li D (2020) Reactivation of \u03b3-globin expression through Cas9 or base editor to treat \u03b2-hemoglobinopathies. Cell Res 30:276\u2013278. https:\/\/doi.org\/10.1038\/s41422-019-0267-z","journal-title":"Cell Res"},{"key":"2610_CR156","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2021.100417","volume":"296","author":"Y Wang","year":"2021","unstructured":"Wang Y, Li X, Ge J, Liu M, Pang X, Liu J, Luo C, Xu Y, Zhao Q (2021) The methyltransferase PRMT1 regulates gamma-globin translation. J Biol Chem 296:100417. https:\/\/doi.org\/10.1016\/j.jbc.2021.100417","journal-title":"J Biol Chem"},{"key":"2610_CR157","doi-asserted-by":"publisher","DOI":"10.1097\/01.Hs9.0000848716.65161.13","volume-title":"P1465: initial safety and efficacy study of RM-001, AUTOLOGOUS HBG1\/2 promoter-modified CD34+ hematopoietic stem and progenitor cells","author":"L Wang","year":"2022","unstructured":"Wang L, Xu H, Liang J, Li Y, Shi L, Xiao B, Huang J, Xu X, Zhang X (2022) P1465: initial safety and efficacy study of RM-001, AUTOLOGOUS HBG1\/2 promoter-modified CD34+ hematopoietic stem and progenitor cells. Hemasphere, IN TRANSFUSION-DEPENDENT \u0392ETA-THALASSEMIA. https:\/\/doi.org\/10.1097\/01.Hs9.0000848716.65161.13"},{"key":"2610_CR158","doi-asserted-by":"publisher","first-page":"46","DOI":"10.1186\/s13287-018-0779-3","volume":"9","author":"M Wattanapanitch","year":"2018","unstructured":"Wattanapanitch M, Damkham N, Potirat P, Trakarnsanga K, Janan M, U-pratya Y, Kheolamai P, Klincumhom N, Issaragrisil S (2018) One-step genetic correction of hemoglobin E\/beta-thalassemia patient-derived iPSCs by the CRISPR\/Cas9 system. Stem Cell Res Ther 9:46. https:\/\/doi.org\/10.1186\/s13287-018-0779-3","journal-title":"Stem Cell Res Ther"},{"key":"2610_CR159","doi-asserted-by":"publisher","first-page":"eaay9392","DOI":"10.1126\/sciadv.aay9392","volume":"6","author":"L Weber","year":"2020","unstructured":"Weber L, Frati G, Felix T, Hardouin G, Casini A, Wollenschlaeger C, Meneghini V, Masson C, De Cian A, Chalumeau A, Mavilio F, Amendola M, Andre-Schmutz I, Cereseto A, El Nemer W, Concordet J-P, Giovannangeli C, Cavazzana M, Miccio A (2020) Editing a \u03b3-globin repressor binding site restores fetal hemoglobin synthesis and corrects the sickle cell disease phenotype. Sci Adv 6:eaay9392. https:\/\/doi.org\/10.1126\/sciadv.aay9392","journal-title":"Sci Adv"},{"key":"2610_CR160","doi-asserted-by":"publisher","first-page":"2817","DOI":"10.1182\/blood-2010-08-300723","volume":"117","author":"A Wilber","year":"2011","unstructured":"Wilber A, Hargrove PW, Kim YS, Riberdy JM, Sankaran VG, Papanikolaou E, Georgomanoli M, Anagnou NP, Orkin SH, Nienhuis AW, Persons DA (2011) Therapeutic levels of fetal hemoglobin in erythroid progeny of \u03b2-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer. Blood 117:2817\u20132826. https:\/\/doi.org\/10.1182\/blood-2010-08-300723","journal-title":"Blood"},{"key":"2610_CR161","doi-asserted-by":"publisher","first-page":"876","DOI":"10.1038\/nsmb.3289","volume":"23","author":"AV Wright","year":"2016","unstructured":"Wright AV, Doudna JA (2016) Protecting genome integrity during CRISPR immune adaptation. Nat Struct Mol Biol 23:876\u2013883. https:\/\/doi.org\/10.1038\/nsmb.3289","journal-title":"Nat Struct Mol Biol"},{"key":"2610_CR162","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1038\/s41591-019-0401-y","volume":"25","author":"Y Wu","year":"2019","unstructured":"Wu Y, Zeng J, Roscoe BP, Liu P, Yao Q, Lazzarotto CR, Clement K, Cole MA, Luk K, Baricordi C, Shen AH, Ren C, Esrick EB, Manis JP, Dorfman DM, Williams DA, Biffi A, Brugnara C, Biasco L, Brendel C, Pinello L, Tsai SQ, Wolfe SA, Bauer DE (2019) Highly efficient therapeutic gene editing of human hematopoietic stem cells. Nat Med 25:776\u2013783. https:\/\/doi.org\/10.1038\/s41591-019-0401-y","journal-title":"Nat Med"},{"key":"2610_CR163","doi-asserted-by":"publisher","first-page":"4374","DOI":"10.7150\/thno.43360","volume":"10","author":"SS Wu","year":"2020","unstructured":"Wu SS, Li QC, Yin CQ, Xue W, Song CQ (2020) Advances in CRISPR\/Cas-based gene therapy in human genetic diseases. Theranostics 10:4374\u20134382. https:\/\/doi.org\/10.7150\/thno.43360","journal-title":"Theranostics"},{"key":"2610_CR164","doi-asserted-by":"publisher","first-page":"1526","DOI":"10.1101\/gr.173427.114","volume":"24","author":"F Xie","year":"2014","unstructured":"Xie F, Ye L, Chang JC, Beyer AI, Wang J, Muench MO, Kan YW (2014) Seamless gene correction of \u03b2-thalassemia mutations in patient-specific iPSCs using CRISPR\/Cas9 and piggyBac. Genome Res 24:1526\u20131533. https:\/\/doi.org\/10.1101\/gr.173427.114","journal-title":"Genome Res"},{"key":"2610_CR165","doi-asserted-by":"publisher","first-page":"8046","DOI":"10.1111\/jcmm.14669","volume":"23","author":"Z Xiong","year":"2019","unstructured":"Xiong Z, Xie Y, Yang Y, Xue Y, Wang D, Lin S, Chen D, Lu D, He L, Song B, Yang Y, Sun X (2019) Efficient gene correction of an aberrant splice site in \u03b2-thalassaemia iPSCs by CRISPR\/Cas9 and single-strand oligodeoxynucleotides. J Cell Mol Med 23:8046\u20138057. https:\/\/doi.org\/10.1111\/jcmm.14669","journal-title":"J Cell Mol Med"},{"key":"2610_CR166","doi-asserted-by":"publisher","first-page":"993","DOI":"10.1126\/science.1211053","volume":"334","author":"J Xu","year":"2011","unstructured":"Xu J, Peng C, Sankaran VG, Shao Z, Esrick EB, Chong BG, Ippolito GC, Fujiwara Y, Ebert BL, Tucker PW, Orkin SH (2011) Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science 334:993\u2013996. https:\/\/doi.org\/10.1126\/science.1211053","journal-title":"Science"},{"key":"2610_CR167","doi-asserted-by":"publisher","first-page":"12065","DOI":"10.1038\/srep12065","volume":"5","author":"P Xu","year":"2015","unstructured":"Xu P, Tong Y, Liu XZ, Wang TT, Cheng L, Wang BY, Lv X, Huang Y, Liu DP (2015a) Both TALENs and CRISPR\/Cas9 directly target the HBB IVS2-654 (C > T) mutation in beta-thalassemia-derived iPSCs. Sci Rep 5:12065. https:\/\/doi.org\/10.1038\/srep12065","journal-title":"Sci Rep"},{"key":"2610_CR168","doi-asserted-by":"publisher","first-page":"12065","DOI":"10.1038\/srep12065","volume":"5","author":"P Xu","year":"2015","unstructured":"Xu P, Tong Y, Liu XZ, Wang TT, Cheng L, Wang BY, Lv X, Huang Y, Liu DP (2015b) Both TALENs and CRISPR\/Cas9 directly target the HBB IVS2-654 (C > T) mutation in \u03b2-thalassemia-derived iPSCs. Sci Rep 5:12065. https:\/\/doi.org\/10.1038\/srep12065","journal-title":"Sci Rep"},{"key":"2610_CR169","doi-asserted-by":"publisher","first-page":"2255","DOI":"10.1182\/blood-2019-01-895094","volume":"133","author":"S Xu","year":"2019","unstructured":"Xu S, Luk K, Yao Q, Shen AH, Zeng J, Wu Y, Luo HY, Brendel C, Pinello L, Chui DHK, Wolfe SA, Bauer DE (2019) Editing aberrant splice sites efficiently restores \u03b2-globin expression in \u03b2-thalassemia. Blood 133:2255\u20132262. https:\/\/doi.org\/10.1182\/blood-2019-01-895094","journal-title":"Blood"},{"key":"2610_CR170","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2021.100464","volume":"296","author":"Y Yang","year":"2021","unstructured":"Yang Y, Kang X, Hu S, Chen B, Xie Y, Song B, Zhang Q, Wu H, Ou Z, Xian Y, Fan Y, Li X, Lai L, Sun X (2021) CRISPR\/Cas9-mediated \u03b2-globin gene knockout in rabbits recapitulates human \u03b2-thalassemia. J Biol Chem 296:100464. https:\/\/doi.org\/10.1016\/j.jbc.2021.100464","journal-title":"J Biol Chem"},{"key":"2610_CR171","doi-asserted-by":"publisher","first-page":"10661","DOI":"10.1073\/pnas.1612075113","volume":"113","author":"L Ye","year":"2016","unstructured":"Ye L, Wang J, Tan Y, Beyer AI, Xie F, Muench MO, Kan YW (2016) Genome editing using CRISPR-Cas9 to create the HPFH genotype in HSPCs: An approach for treating sickle cell disease and \u03b2-thalassemia. Proc Natl Acad Sci U S A 113:10661\u201310665. https:\/\/doi.org\/10.1073\/pnas.1612075113","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2610_CR172","doi-asserted-by":"publisher","first-page":"846","DOI":"10.1111\/j.1399-3046.2012.01778.x","volume":"16","author":"MA Yesilipek","year":"2012","unstructured":"Yesilipek MA, Ertem M, Cetin M, \u00d6niz H, Kansoy S, Tanyeli A, Anak S, Kurekci E, Hazar V (2012) HLA-matched family hematopoetic stem cell transplantation in children with beta thalassemia major: the experience of the Turkish Pediatric Bone Marrow Transplantation Group. Pediatr Transplant 16:846\u2013851. https:\/\/doi.org\/10.1111\/j.1399-3046.2012.01778.x","journal-title":"Pediatr Transplant"},{"key":"2610_CR173","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0020014","volume":"2","author":"Z Yi","year":"2006","unstructured":"Yi Z, Cohen-Barak O, Hagiwara N, Kingsley PD, Fuchs DA, Erickson DT, Epner EM, Palis J, Brilliant MH (2006) Sox6 directly silences epsilon globin expression in definitive erythropoiesis. PLoS Genet 2:e14. https:\/\/doi.org\/10.1371\/journal.pgen.0020014","journal-title":"PLoS Genet"},{"key":"2610_CR174","doi-asserted-by":"publisher","DOI":"10.3390\/biom10060839","author":"BH Yip","year":"2020","unstructured":"Yip BH (2020) Recent advances in CRISPR\/Cas9 delivery strategies. Biomolecules. https:\/\/doi.org\/10.3390\/biom10060839","journal-title":"Biomolecules"},{"key":"2610_CR175","doi-asserted-by":"publisher","first-page":"1917","DOI":"10.1126\/science.1151526","volume":"318","author":"J Yu","year":"2007","unstructured":"Yu J, Vodyanik MA, Smuga-Otto K, Antosiewicz-Bourget J, Frane JL, Tian S, Nie J, Jonsdottir GA, Ruotti V, Stewart R, Slukvin II, Thomson JA (2007) Induced pluripotent stem cell lines derived from human somatic cells. Science 318:1917\u20131920. https:\/\/doi.org\/10.1126\/science.1151526","journal-title":"Science"},{"key":"2610_CR176","doi-asserted-by":"publisher","first-page":"3280","DOI":"10.1182\/bloodadvances.2021006802","volume":"6","author":"L Yu","year":"2022","unstructured":"Yu L, Myers G, Schneider E, Wang Y, Mathews R, Lim KC, Siemieniak D, Tang V, Ginsburg D, Balbin-Cuesta G, Singh SA, Phuwakanjana P, Jearawiriyapaisarn N, Khoriaty R, Engel JD (2022) Identification of novel gamma-globin inducers among all potential erythroid druggable targets. Blood Adv 6:3280\u20133285. https:\/\/doi.org\/10.1182\/bloodadvances.2021006802","journal-title":"Blood Adv"},{"key":"2610_CR177","doi-asserted-by":"publisher","first-page":"535","DOI":"10.1038\/s41591-020-0790-y","volume":"26","author":"J Zeng","year":"2020","unstructured":"Zeng J, Wu Y, Ren C, Bonanno J, Shen AH, Shea D, Gehrke JM, Clement K, Luk K, Yao Q, Kim R, Wolfe SA, Manis JP, Pinello L, Joung JK, Bauer DE (2020) Therapeutic base editing of human hematopoietic stem cells. Nat Med 26:535\u2013541. https:\/\/doi.org\/10.1038\/s41591-020-0790-y","journal-title":"Nat Med"},{"key":"2610_CR178","doi-asserted-by":"publisher","first-page":"759","DOI":"10.1016\/j.cell.2015.09.038","volume":"163","author":"B Zetsche","year":"2015","unstructured":"Zetsche B, Gootenberg JS, Abudayyeh OO, Slaymaker IM, Makarova KS, Essletzbichler P, Volz SE, Joung J, van der Oost J, Regev A, Koonin EV, Zhang F (2015) Cpf1 is a single RNA-guided endonuclease of a class 2 CRISPR-Cas system. Cell 163:759\u2013771. https:\/\/doi.org\/10.1016\/j.cell.2015.09.038","journal-title":"Cell"},{"key":"2610_CR179","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1007\/bf00291231","volume":"78","author":"JZ Zhang","year":"1988","unstructured":"Zhang JZ, Cai SP, He X, Lin HX, Lin HJ, Huang ZG, Chehab FF, Kan YW (1988) Molecular basis of beta thalassemia in south China strategy for DNA analysis. Hum Genet 78:37\u201340. https:\/\/doi.org\/10.1007\/bf00291231","journal-title":"Hum Genet"},{"key":"2610_CR180","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23115948","author":"H Zhang","year":"2022","unstructured":"Zhang H, Sun R, Fei J, Chen H, Lu D (2022a) Correction of beta-thalassemia IVS-II-654 mutation in a mouse model using prime editing. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms23115948","journal-title":"Int J Mol Sci"},{"key":"2610_CR181","doi-asserted-by":"publisher","DOI":"10.3390\/ijms23095002","author":"H Zhang","year":"2022","unstructured":"Zhang H, Zhou Q, Chen H, Lu D (2022b) Prime editor 3 mediated beta-thalassemia mutations of the hbb gene in human erythroid progenitor cells. Int J Mol Sci. https:\/\/doi.org\/10.3390\/ijms23095002","journal-title":"Int J Mol Sci"},{"key":"2610_CR182","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1038\/s41587-020-0592-2","volume":"39","author":"D Zhao","year":"2021","unstructured":"Zhao D, Li J, Li S, Xin X, Hu M, Price MA, Rosser SJ, Bi C, Zhang X (2021) Glycosylase base editors enable C-to-A and C-to-G base changes. Nat Biotechnol 39:35\u201340. https:\/\/doi.org\/10.1038\/s41587-020-0592-2","journal-title":"Nat Biotechnol"},{"key":"2610_CR183","doi-asserted-by":"publisher","first-page":"4599","DOI":"10.1182\/blood-2011-02-335554","volume":"118","author":"J Zou","year":"2011","unstructured":"Zou J, Mali P, Huang X, Dowey SN, Cheng L (2011) Site-specific gene correction of a point mutation in human iPS cells derived from an adult patient with sickle cell disease. Blood 118:4599\u20134608. https:\/\/doi.org\/10.1182\/blood-2011-02-335554","journal-title":"Blood"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-023-02610-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-023-02610-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-023-02610-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,25]],"date-time":"2023-11-25T08:03:34Z","timestamp":1700899414000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-023-02610-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,25]]},"references-count":183,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["2610"],"URL":"https:\/\/doi.org\/10.1007\/s00439-023-02610-9","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,25]]},"assertion":[{"value":"1 July 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 October 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 October 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors have no relevant financial or non-financial interests to disclose.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"Not applicable","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}}]}}