Induction of fetal hemoglobin synthesis by CRISPR/Cas9-mediated editing of the human β-globin locus
Open accessAbstract
Key Points: CRISPR/Cas9-mediated disruption of the β-globin locus architecture reactivates fetal γ-globin expression in adult erythroblasts. Fetal γ-globin reactivation and sickle β-globin downregulation leads to the amelioration of the SCD cell phenotype.
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The first strategy involves restoration of the normal β-globin gene sequence by homology-directed repair.
“The first involves restoration of the normal β -globin gene sequence by homology-directed repair 35 .”
From The promise and challenge of therapeutic genome editing (2020) · cites this paper as [35]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Cites
Improving CRISPR-Cas nuclease specificity using truncated guide RNAs
Fu, Y., Sander, J. D., Reyon, D., Cascio, V. M., & Joung, J. K. (2014) · Nature Biotechnology · doi:10.1038/nbt.2808 · Cited by 1,993 · see citing works
Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia
Cavazzana-Calvo, M., Payen, E., Negre, O., Wang, G., Hehir, K., Fusil, F., Down, J., Denaro, M., Brady, T., Westerman, K., et al. (2010) · Nature · doi:10.1038/nature09328 · Cited by 1,276 · see citing works
Self-citationSankaran, V. G., Menne, T. F., Xu, J., Akie, T. E., Lettre, G., Van Handel, B., Mikkola, H. K. A., Hirschhorn, J. N., Cantor, A. B., & Orkin, S. H. (2008) · Science · doi:10.1126/science.1165409 · Cited by 919 · see citing works
BCL11A enhancer dissection by Cas9-mediated in situ saturating mutagenesis
Canver, M. C., Smith, E. C., Sher, F., Pinello, L., Sanjana, N. E., Shalem, O., Chen, D. D., Schupp, P. G., Vinjamur, D. S., Garcia, S. P., et al. (2015) · Nature · doi:10.1038/nature15521 · Cited by 886 · see citing works
Self-citationCRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells
Dever, D. P., Bak, R. O., Reinisch, A., Camarena, J., Washington, G., Nicolas, C. E., Pavel-Dinu, M., Saxena, N., Wilkens, A. B., Mantri, S., et al. (2016) · Nature · doi:10.1038/nature20134 · Cited by 864 · see citing works
Self-citationQuantitative analysis of chromosome conformation capture assays (3C-qPCR)
Hagège, H., Klous, P., Braem, C., Splinter, E., Dekker, J., Cathala, G., de Laat, W., & Forné, T. (2007) · Nature Protocols · doi:10.1038/nprot.2007.243 · Cited by 720 · see citing works
Gene therapy in a patient with sickle cell disease
Ribeil, J.-A., Hacein-Bey-Abina, S., Payen, E., Magnani, A., Semeraro, M., Magrin, E., Caccavelli, L., Neven, B., Bourget, P., El Nemer, W., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1609677 · Cited by 696 · see citing works
Self-citationEx vivo generation of fully mature human red blood cells from hematopoietic stem cells
Giarratana, M., Kobari, L., Lapillonne, H., Chalmers, D., Kiger, L., Cynober, T., Marden, M. C., Wajcman, H., & Douay, L. (2004) · Nature Biotechnology · doi:10.1038/nbt1047 · Cited by 576 · see citing works
Targeted genome editing in human repopulating haematopoietic stem cells
Genovese, P., Schiroli, G., Escobar, G., Di Tomaso, T., Firrito, C., Calabria, A., Moi, D., Mazzieri, R., Bonini, C., Holmes, M. C., et al. (2014) · Nature · doi:10.1038/nature13420 · Cited by 555 · see citing works
Fetal hemoglobin in sickle cell anemia
Akinsheye, I., Alsultan, A., Solovieff, N., Ngo, D., Baldwin, C. T., Sebastiani, P., Chui, D. H. K., & Steinberg, M. H. (2011) · Blood · doi:10.1182/blood-2011-03-325258 · Cited by 553 · see citing works
DeWitt, M. A., Magis, W., Bray, N. L., Wang, T., Berman, J. R., Urbinati, F., Heo, S.-J., Mitros, T., Muñoz, D. P., Boffelli, D., et al. (2016) · Science Translational Medicine · doi:10.1126/scitranslmed.aaf9336 · Cited by 477 · see citing works
Reactivation of developmentally silenced globin genes by forced chromatin looping
Deng, W., Rupon, J. W., Krivega, I., Breda, L., Motta, I., Jahn, K. S., Reik, A., Gregory, P. D., Rivella, S., Dean, A., et al. (2014) · Cell · doi:10.1016/j.cell.2014.05.050 · Cited by 443 · see citing works
Kurita, R., Suda, N., Sudo, K., Miharada, K., Hiroyama, T., Miyoshi, H., Tani, K., & Nakamura, Y. (2013) · PLoS ONE · doi:10.1371/journal.pone.0059890 · Cited by 418 · see citing works
Self-citationTraxler, E. A., Yao, Y., Wang, Y.-D., Woodard, K. J., Kurita, R., Nakamura, Y., Hughes, J. R., Hardison, R. C., Blobel, G. A., Li, C., et al. (2016) · Nature Medicine · doi:10.1038/nm.4170 · Cited by 366 · see citing works
Self-citationOptimizing sgRNA structure to improve CRISPR-Cas9 knockout efficiency
Dang, Y., Jia, G., Choi, J., Ma, H., Anaya, E., Ye, C., Shankar, P., & Wu, H. (2015) · Genome biology · doi:10.1186/s13059-015-0846-3 · Cited by 364 · see citing works
Stable mixed hematopoietic chimerism after bone marrow transplantation for sickle cell anemia
Walters, M. C., Patience, M., Leisenring, W. M., Rogers, Z. R., Aquino, V. M., Buchanan, G. R., Roberts, I. A. G., Yeager, A. M., Hsu, L. L.-Y., Adamkiewicz, T. V., et al. (2001) · Transplantation and Cellular Therapy · doi:10.1053/bbmt.2001.v7.pm11787529 · Cited by 324 · see citing works
Correction of the sickle cell disease mutation in human hematopoietic stem/progenitor cells
Hoban, M. D., Cost, G. J., Mendel, M. C., Romero, Z., Kaufman, M. L., Joglekar, A. V., Ho, M., Lumaquin, D., Gray, D., Lill, G. R., et al. (2015) · Blood · doi:10.1182/blood-2014-12-615948 · Cited by 320 · see citing works
In Situ Capture of Chromatin Interactions by Biotinylated dCas9
Liu, X., Zhang, Y., Chen, Y., Li, M., Zhou, F., Li, K., Cao, H., Ni, M., Liu, Y., Gu, Z., et al. (2017) · Cell · doi:10.1016/j.cell.2017.08.003 · Cited by 309 · see citing works
Transcriptional control and the role of silencers in transcriptional regulation in eukaryotes
Ogbourne, S. M., & Antalis, T. (1998) · Biochemical Journal · doi:10.1042/bj3310001 · Cited by 297 · see citing works
Molecular Basis of Hereditary Persistence of Fetal Hemoglobin
Forget, B. G. (1998) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1998.tb10460.x · Cited by 271 · see citing works
An H3K36 Methylation-Engaging Tudor Motif of Polycomb-like Proteins Mediates PRC2 Complex Targeting
Cai, L., Rothbart, S. B., Lu, R., Xu, B., Chen, W., Tripathy, A., Rockowitz, S., Zheng, D., Patel, D. J., Allis, C. D., et al. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.11.026 · Cited by 253 · see citing works
Saber, W., Opie, S. R., Rizzo, J. D., Zhang, M., Horowitz, M. M., & Schriber, J. (2012) · Blood · doi:10.1182/blood-2011-09-381699 · Cited by 250 · see citing works
Phf19 links methylated Lys36 of histone H3 to regulation of Polycomb activity
Ballaré, C., Lange, M., Lapinaitė, A., Martín, G. M., Morey, L., Pascual, G., Liefke, R., Simon, B., Shi, Y., Gozani, O., et al. (2012) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.2434 · Cited by 245 · see citing works
Corepressor-dependent silencing of fetal hemoglobin expression by BCL11A
Xu, J., Bauer, D. E., Kerenyi, M. A., Vo, T. D., Hou, S., Hsu, Y.-J., Yao, H., Trowbridge, J. J., Mandel, G., & Orkin, S. H. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1303976110 · Cited by 233 · see citing works
Comparison of DNA methylation profiles in human fetal and adult red blood cell progenitors
Lessard, S., Beaudoin, M., Benkirane, K., & Lettre, G. (2015) · Genome Medicine · doi:10.1186/s13073-014-0122-2 · Cited by 217 · see citing works
Xu, J., Shao, Z., Glass, K., Bauer, D. E., Pinello, L., Handel, B. V., Hou, S., Stamatoyannopoulos, J. A., Mikkola, H. K. A., Yuan, G., et al. (2012) · Developmental Cell · doi:10.1016/j.devcel.2012.09.003 · Cited by 196 · see citing works
Ye, L., Wang, J., Tan, Y., Beyer, A. I., Xie, F., Muench, M. O., & Kan, Y. W. (2016) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1612075113 · Cited by 190 · see citing works
A Functional Element Necessary for Fetal Hemoglobin Silencing
Sankaran, V. G., Xu, J., Byron, R., Greisman, H. A., Fisher, C. A., Weatherall, D. J., Sabath, D. E., Groudine, M. T., Orkin, S. H., Premawardhena, A., et al. (2011) · New England Journal of Medicine · doi:10.1056/nejmoa1103070 · Cited by 183 · see citing works
Lineage-specific BCL11A knockdown circumvents toxicities and reverses sickle phenotype.
Brendel, C., Guda, S., Renella, R., Bauer, D. E., Canver, M. C., Kim, Y.-J., Heeney, M. M., Klatt, D., Fogel, J., Milsom, M. D., et al. (2016) · Journal of Clinical Investigation · doi:10.1172/jci87885 · Cited by 167 · see citing works
Miccio, A., Cesari, R., Lotti, F., Rossi, C., Sanvito, F., Ponzoni, M., Routledge, S. J. E., Chow, C.-M., Antoniou, M. N., & Ferrari, G. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711666105 · Cited by 154 · see citing works
Self-citationFitzhugh, C. D., Hsieh, M. M., Bolan, C. D., Saénz, C., & Tisdale, J. F. (2009) · Cytotherapy · doi:10.1080/14653240902849788 · Cited by 154 · see citing works
Functional footprinting of regulatory DNA
Vierstra, J., Reik, A., Chang, K.-H., Stehling-Sun, S., Zhou, Y., Hinkley, S. J., Paschon, D. E., Zhang, L., Psatha, N., Bendana, Y. R., et al. (2015) · Nature Methods · doi:10.1038/nmeth.3554 · Cited by 133 · see citing works
Huang, P., Keller, C. A., Giardine, B., Grevet, J. D., Davies, J. O. J., Hughes, J. R., Kurita, R., Nakamura, Y., Hardison, R. C., & Blobel, G. A. (2017) · Genes & Development · doi:10.1101/gad.303461.117 · Cited by 127 · see citing works
Self-citationWienert, B., Funnell, A. P. W., Norton, L. J., Pearson, R. C. M., Wilkinson‐White, L. E., Lester, K. L., Vadolas, J., Porteus, M. H., Matthews, J. M., Quinlan, K. G. R., et al. (2015) · Nature Communications · doi:10.1038/ncomms8085 · Cited by 125 · see citing works
Self-citationmiRNA-embedded shRNAs for Lineage-specific BCL11A Knockdown and Hemoglobin F Induction
Guda, S., Brendel, C., Renella, R., Du, P., Bauer, D. E., Canver, M. C., Grenier, J. K., Grimson, A., Kamran, S. C., Thornton, J. E., et al. (2015) · Molecular Therapy · doi:10.1038/mt.2015.113 · Cited by 120 · see citing works
Improved Human Erythropoiesis and Platelet Formation in Humanized NSGW41 Mice
Rahmig, S., Kronstein‐Wiedemann, R., Fohgrub, J., Kronstein, N., Nevmerzhitskaya, A., Bornhäuser, M., Gassmann, M., Platz, A., Ordemann, R., Tonn, T., et al. (2016) · Stem Cell Reports · doi:10.1016/j.stemcr.2016.08.005 · Cited by 118 · see citing works
Besse, K., Maiers, M. J., Confer, D. L., & Albrecht, M. C. (2015) · Transplantation and Cellular Therapy · doi:10.1016/j.bbmt.2015.09.012 · Cited by 107 · see citing works
β-globin gene transfer to human bone marrow for sickle cell disease
Romero, Z. G., Urbinati, F., Geiger, S., Cooper, A. R., Wherley, J., Kaufman, M. L., Hollis, R. P., de Assín, R. R., Senadheera, S., Sahagian, A., et al. (2013) · Journal of Clinical Investigation · doi:10.1172/jci67930 · Cited by 107 · see citing works
KLF1 drives the expression of fetal hemoglobin in British HPFH
Wienert, B., Martyn, G. E., Kurita, R., Nakamura, Y., Quinlan, K. G. R., & Crossley, M. (2017) · Blood · doi:10.1182/blood-2017-02-767400 · Cited by 94 · see citing works
Self-citationO’Neill, D. W., Yang, J. J., Erdjument‐Bromage, H., Bornschlegel, K., Tempst, P., & Bank, A. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.2.349 · Cited by 90 · see citing works
Breda, L., Casu, C., Gardenghi, S., Bianchi, N., Cartegni, L., Mohandas, N., Yazdanbakhsh, K., Musso, M., Manwani, D. G., Little, J. A., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0032345 · Cited by 84 · see citing works
Breda, L., Motta, I., Lourenco, S., Gemmo, C., Deng, W., Rupon, J. W., Abdulmalik, O. Y., Manwani, D., Blobel, G. A., & Rivella, S. (2016) · Blood · doi:10.1182/blood-2016-01-691089 · Cited by 83 · see citing works
Ottolenghi, S., Giglioni, B., Taramelli, R., Comi, P., Mazza, U., Saglio, G. N., Camaschella, C., Izzo, P., Cao, A., Galanello, R., et al. (1982) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.79.7.2347 · Cited by 81 · see citing works
Chakalova, L., Osborne, C. S., Dai, Y.-F., Goyenechea, B., Metaxotou-Mavromati, A., Kattamis, A. C., KATTAMIS, C. A., & Fraser, P. (2004) · Blood · doi:10.1182/blood-2003-11-4069 · Cited by 80 · see citing works
Stem cell transplantation for hemoglobinopathies
Gaziev, J., & Lucarelli, G. (2003) · Current Opinion in Pediatrics · doi:10.1097/00008480-200302000-00005 · Cited by 71 · see citing works
Jawaid, K., Wahlberg, K., Thein, S. L., & Best, S. (2010) · Blood Cells, Molecules, and Diseases · doi:10.1016/j.bcmd.2010.05.006 · Cited by 64 · see citing works
Gene Therapy for Hemoglobinopathies
Chandrakasan, S., & Malik, P. (2014) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2013.12.003 · Cited by 62 · see citing works
Kiefer, C. M., Lee, J., Hou, C., Dale, R. K., Lee, Y. T., Meier, E. R., Miller, J. L., & Dean, A. (2011) · Blood · doi:10.1182/blood-2011-06-363101 · Cited by 59 · see citing works
Therapeutic Options for Patients with Severe β-Thalassemia: The Need for Globin Gene Therapy
Sadelain, M., Boulad, F., Galanello, R., Giardina, P. J., Locatelli, F., Maggio, A., Rivella, S., Rivière, I., & Tisdale, J. F. (2007) · Human Gene Therapy · doi:10.1089/hum.2006.151 · Cited by 49 · see citing works
Calzolari, R., McMorrow, T., Yannoutsos, N., Langeveld, A., & Grosveld, F. G. (1999) · The EMBO Journal · doi:10.1093/emboj/18.4.949 · Cited by 45 · see citing works
Galanello, R., Melis, M. G., Podda, A., Monne, M. I., Perseu, L., Loudianos, G., Cao, A., Pirastu, M., & Piga, A. (1990) · Blood · doi:10.1182/blood.v75.8.1747.1747 · Cited by 38 · see citing works
Altrock, P. M., Brendel, C., Renella, R., Orkin, S. H., Williams, D. A., & Franziska Michor, A. (2016) · American Journal of Hematology · doi:10.1002/ajh.24449 · Cited by 31 · see citing works
Mariner Transposons Contain a Silencer: Possible Role of the Polycomb Repressive Complex 2
Bire, S., Casteret, S., Piégu, B., Beauclair, L., Moiré, N., Arensbuger, P., & Bigot, Y. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1005902 · Cited by 31 · see citing works
Camaschella, C., Serra, A., Gottardi, E., Alfarano, A., Revello, D., Mazza, U., & Saglio, G. N. (1990) · Blood · doi:10.1182/blood.v75.4.1000.1000 · Cited by 31 · see citing works
Developmentally‐faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice
Fiorini, C., Abdulhay, N. J., McFarland, S., Munschauer, M., Ulirsch, J. C., Chiarle, R., & Sankaran, V. G. (2017) · American Journal of Hematology · doi:10.1002/ajh.24805 · Cited by 31 · see citing works
A Novel Deletion in the β‐Globin Gene Complex
Wainscoat, J. S., Thein, S. L., Wood, W. G., Weatherall, D. J., Metaxotou-Mavromati, A., TZOTOS, S., Kanavakis, E., & Kattamis, C. (1985) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1985.tb17171.x · Cited by 29 · see citing works
Joly, P., Lacan, P., Garcia, C., Couprie, N., & Francina, A. (2009) · Blood Cells Molecules and Diseases · doi:10.1016/j.bcmd.2009.01.017 · Cited by 24 · see citing works
Gaensler, K. M. L., Zhang, Z., Lin, C. J., Yang, S., Hardt, K., & Flebbe-Rehwaldt, L. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0634132100 · Cited by 22 · see citing works
Anagnou, N., Papayannopoulou, T., Stamatoyannopoulos, G., & Nienhuis, A. (1985) · Blood · doi:10.1182/blood.v65.5.1245.1245 · Cited by 22 · see citing works
Romano, O., Peano, C., Tagliazucchi, G. M., Petiti, L., Poletti, V., Cocchiarella, F., Rizzi, E., Severgnini, M., Cavazza, A., Rossi, C., et al. (2016) · Scientific Reports · doi:10.1038/srep24724 · Cited by 21 · see citing works
Self-citationA novel δβ fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese δ0β+thalassemia
Zertal‐Zidani, S., Ducrocq, R., Weil-Olivier, C., Élion, J., & Krishnamoorthy, R. (2001) · Blood · doi:10.1182/blood.v98.4.1261 · Cited by 20 · see citing works
Bank, A., O’Neill, D. W., López, R., Pulte, D. D., Ward, M., Mantha, S. H., & Richardson, C. A. (2005) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1345.057 · Cited by 19 · see citing works
The Corfu δβ thalassaemia mutation in Greece: haematological phenotype and prevalence
Traeger‐Synodinos, J., Tzetis, M., Kanavakis, E., Metaxotou-Mavromati, A., & KATTAMIS, C. A. (1991) · British Journal of Haematology · doi:10.1111/j.1365-2141.1991.tb04537.x · Cited by 19 · see citing works
Molecular analysis of Japanese delta beta-thalassemia
Shiokawa, S., Yamada, H., Takihara, Y., Matsunaga, E., Ohba, Y., Yamamoto, K., & Fukumaki, Y. (1988) · Blood · doi:10.1182/blood.v72.5.1771.1771 · Cited by 16 · see citing works
Estimation of the difference in HbF expression due to loss of the 5' -globin BCL11A binding region
Ghedira, E. S., Lecerf, L., Faubert, E., Costes, B., Moradkhani, K., Bachir, D., Galactéros, F., & Pissard, S. (2012) · Haematologica · doi:10.3324/haematol.2012.061994 · Cited by 16 · see citing works
Mishima, N., Landman, H., Huisman, T. H. J., & Gilman, J. G. (1989) · British Journal of Haematology · doi:10.1111/j.1365-2141.1989.tb07756.x · Cited by 15 · see citing works
SCREENING AND DIAGNOSIS FOR HAEMOGLOBIN DISORDERS
Galanello, R. (2013) · Cited by 13 · see citing works
Characterization of a novel deletion causing (δβ)0‐thalassemia in a Thai family
Svasti, S., Paksua, S., Nuchprayoon, I., Winichagoon, P., & Fucharoen, S. (2006) · American Journal of Hematology · doi:10.1002/ajh.20781 · Cited by 8 · see citing works
A NovelGγAγ(δβ)0-Thalassemia with a 27 kb Deletion
Yamashiro, Y., Hattori, Y., Okayama, N., Shinoda, E., Suyama, N., Tanaka, T., & Ohi, S. (2005) · Hemoglobin · doi:10.1081/hem-200066317 · Cited by 6 · see citing works
Anagnou, N., Papayannopoulou, T., Stamatoyannopoulos, G., et al. (1985) · Blood · doi:10.1182/blood.v65.5.1245.bloodjournal6551245 · Cited by 1 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
- Yamashiro Y, Hattori Y, Okayama N, et al. A novel (g)gamma(a)gamma(deltabeta)O- thalassemia with a 27 kb deletion. Hemoglobin. 2005;29(3):197-208.
- Chang KH, Smith SE, Sullivan T, et al. Long- term engraftment and fetal globin reactivation upon genome editing of BCL11A in bone marrow-derived CD341 hematopoietic stem and progenitor cells. Mol Ther Methods Clin Dev. 2017;4:137-138.
Cited by
Sorted by citations
The promise and challenge of therapeutic genome editing
Doudna, J. A. (2020) · Nature · doi:10.1038/s41586-020-1978-5 · Cited by 1,126 · see citing works
Taher, A. T., Musallam, K. M., & Cappellini, M. D. (2021) · New England Journal of Medicine · doi:10.1056/nejmra2021838 · Cited by 486 · see citing works
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations
Cullot, G., Boutin, J., Toutain, J., Prat, F., Pennamen, P., Rooryck, C., Teichmann, M., Rousseau, E., Lamrissi-Garcia, I., Guyonnet-Duperat, V., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-09006-2 · Cited by 474 · see citing works
Farmakis, D. T., Porter, J. B., Taher, A. T., Cappellini, M. D., Angastiniotis, M., Eleftheriou, A., & Taskforce, F. T. 2. T. G. (2022) · HemaSphere · doi:10.1097/hs9.0000000000000732 · Cited by 313 · see citing works
Gene therapy using haematopoietic stem and progenitor cells
Ferrari, G., Thrasher, A. J., & Aiuti, A. (2020) · Nature Reviews Genetics · doi:10.1038/s41576-020-00298-5 · Cited by 256 · see citing works
Gene therapy targeting haematopoietic stem cells for inherited diseases: progress and challenges
Cavazzana, M., Bushman, F. D., Miccio, A., André‐Schmutz, I., & Six, E. M. (2019) · Nature Reviews Drug Discovery · doi:10.1038/s41573-019-0020-9 · Cited by 198 · see citing works
Self-citationPiel, F. B., Rees, D. C., DeBaun, M. R., Nnodu, O. E., Ranque, B., Thompson, A. A., Ware, R. E., Abboud, M. R., Abraham, A., Ambrose, E. E., et al. (2023) · The Lancet Haematology · doi:10.1016/s2352-3026(23)00096-0 · Cited by 196 · see citing works
Genome editing of HBG1 and HBG2 to induce fetal hemoglobin
Métais, J.-Y., Doerfler, P. A., Mayuranathan, T., Bauer, D. E., Fowler, S. C., Hsieh, M. M., Katta, V., Keriwala, S., Lazzarotto, C. R., Luk, K., et al. (2019) · Blood Advances · doi:10.1182/bloodadvances.2019000820 · Cited by 177 · see citing works
Lattanzi, A., Camarena, J., Lahiri, P., Segal, H., Srifa, W., Vakulskas, C. A., Frock, R. L., Kenrick, J., Lee, C. M., Talbott, N., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abf2444 · Cited by 166 · see citing works
Self-citationWeber, L., Frati, G., Felix, T., Hardouin, G., Casini, A., Wollenschlaeger, C., Meneghini, V., Masson, C., De Cian, A., Chalumeau, A., et al. (2020) · Science Advances · doi:10.1126/sciadv.aay9392 · Cited by 140 · see citing works
Self-citationZhang, X., Chen, L., Zhu, B., Wang, L., Chen, C., Hong, M., Huang, Y., Li, H., Han, H., Cai, B., et al. (2020) · Nature Cell Biology · doi:10.1038/s41556-020-0518-8 · Cited by 140 · see citing works
Lattanzi, A., Meneghini, V., Pavani, G., Amor, F., Ramadier, S., Félix, T., Antoniani, C., Masson, C., Alibeu, O., Lee, C. M., et al. (2018) · Molecular Therapy · doi:10.1016/j.ymthe.2018.10.008 · Cited by 137 · see citing works
Self-citationSickle Cell Disease: Advances in Treatment
Gardner, R. V. (2018) · Ochsner Journal · doi:10.31486/toj.18.0076 · Cited by 134 · see citing works
How I manage medical complications of β-thalassemia in adults
Taher, A. T., & Cappellini, M. D. (2018) · Blood · doi:10.1182/blood-2018-06-818187 · Cited by 124 · see citing works
Emerging genetic therapy for sickle cell disease
Orkin, S. H., & Bauer, D. E. (2019) · Annual Review of Medicine · doi:10.1146/annurev-med-041817-125507 · Cited by 119 · see citing works
Wake-up Sleepy Gene: Reactivating Fetal Globin for β-Hemoglobinopathies
Wienert, B., Martyn, G. E., Funnell, A. P. W., Quinlan, K. G. R., & Crossley, M. (2018) · Trends in Genetics · doi:10.1016/j.tig.2018.09.004 · Cited by 115 · see citing works
Psatha, N., Reik, A., Phelps, S. R., Zhou, Y., Dalas, D., Yannaki, E., Levasseur, D. N., Urnov, F. D., Holmes, M. C., & Papayannopoulou, T. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.08.003 · Cited by 115 · see citing works
Sickle cell disease: a review for the internist
Pinto, V. M., Balocco, M., Quintino, S., & Forni, G. L. (2019) · Internal and Emergency Medicine · doi:10.1007/s11739-019-02160-x · Cited by 106 · see citing works
CRISPR-based therapeutics: current challenges and future applications
Modell, A. E., Lim, D., Nguyen, T. M., Sreekanth, V., & Choudhary, A. (2021) · Trends in Pharmacological Sciences · doi:10.1016/j.tips.2021.10.012 · Cited by 112 · see citing works
CRISPR/Cas9 gene editing for curing sickle cell disease
Park, S. H., & Bao, G. (2021) · Transfusion and Apheresis Science · doi:10.1016/j.transci.2021.103060 · Cited by 110 · see citing works
Transcriptional Silencers: Driving Gene Expression with the Brakes On
Segert, J. A., Gisselbrecht, S. S., & Bulyk, M. L. (2021) · Trends in Genetics · doi:10.1016/j.tig.2021.02.002 · Cited by 102 · see citing works
Lentiviral and genome-editing strategies for the treatment of β-hemoglobinopathies
Magrin, E., Miccio, A., & Cavazzana, M. (2019) · Blood · doi:10.1182/blood.2019000949 · Cited by 97 · see citing works
Self-citationGene therapy for sickle cell disease: moving from the bench to the bedside
Abraham, A., & Tisdale, J. F. (2021) · Blood · doi:10.1182/blood.2019003776 · Cited by 92 · see citing works
Pavani, G., Fabiano, A., Laurent, M., Amor, F., Cantelli, E., Chalumeau, A., Maule, G., Tachtsidi, A., Concordet, J., Cereseto, A., et al. (2021) · Blood Advances · doi:10.1182/bloodadvances.2020001996 · Cited by 86 · see citing works
Self-citationRab, M. A. E., van Oirschot, B. A., Bos, J., Merkx, T. H., van Wesel, A. C. W., Abdulmalik, O. Y., Safo, M. K., Versluijs, B. A., Houwing, M. E., Cnossen, M. H., et al. (2019) · American Journal of Hematology · doi:10.1002/ajh.25443 · Cited by 78 · see citing works
Boutin, J., Rosier, J., Cappellen, D., Prat, F., Toutain, J., Pennamen, P., Bouron, J., Rooryck, C., Merlio, J., Lamrissi‐Garcia, I., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-25190-6 · Cited by 78 · see citing works
Current approaches in CRISPR-Cas9 mediated gene editing for biomedical and therapeutic applications
Bhattacharjee, G., Gohil, N., Khambhati, K., Mani, I., Maurya, R., Karapurkar, J. K., Gohil, J., Chu, D., Vu‐Thi, H., Alzahrani, K. J., et al. (2022) · Journal of Controlled Release · doi:10.1016/j.jconrel.2022.02.005 · Cited by 78 · see citing works
Molecular Basis and Genetic Modifiers of Thalassemia
Tesio, N., & Bauer, D. E. (2023) · Hematology/Oncology Clinics of North America · doi:10.1016/j.hoc.2022.12.001 · Cited by 83 · see citing works
Martyn, G. E., Wienert, B., Kurita, R., Nakamura, Y., Quinlan, K. G. R., & Crossley, M. (2019) · Blood · doi:10.1182/blood-2018-07-863951 · Cited by 75 · see citing works
Self-citationKhosravi, M. A., Abbasalipour, M., Concordet, J., Berg, J. V., Zeinali, S., Arashkia, A., Azadmanesh, K., Buch, T., & Karimipoor, M. (2019) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2019.04.042 · Cited by 71 · see citing works
Fetal hemoglobin rescues ineffective erythropoiesis in sickle cell disease
Hoss, S. E., Cochet, S., Godard, A., Yan, H., Dussiot, M., Frati, G., Boutonnat-Faucher, B., Laurance, S., Renaud, O., Joseph, L., et al. (2020) · Haematologica · doi:10.3324/haematol.2020.265462 · Cited by 68 · see citing works
Self-citationEvolving AAV-delivered therapeutics towards ultimate cures
He, X., Urip, B. A., Zhang, Z., Ngan, C. C., & Feng, B. (2021) · Journal of Molecular Medicine · doi:10.1007/s00109-020-02034-2 · Cited by 67 · see citing works
CRISPR/Cas9 for Sickle Cell Disease: Applications, Future Possibilities, and Challenges
Demirci, S., Leonard, A. K., Haro‐Mora, J. J., Uchida, N., & Tisdale, J. F. (2019) · Advances in experimental medicine and biology · doi:10.1007/5584_2018_331 · Cited by 67 · see citing works
Rare Opportunities: CRISPR/Cas-Based Therapy Development for Rare Genetic Diseases
Papasavva, P. L., Kleanthous, M., & Lederer, C. W. (2019) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-019-00392-3 · Cited by 64 · see citing works
2021 update on clinical trials in β‐thalassemia
Musallam, K. M., Bou‐Fakhredin, R., Cappellini, M. D., & Taher, A. T. (2021) · American Journal of Hematology · doi:10.1002/ajh.26316 · Cited by 61 · see citing works
Topfer, S. K., Feng, R., Huang, P., Ly, L. C., Martyn, G. E., Blobel, G. A., Weiss, M. J., Quinlan, K. G. R., & Crossley, M. (2022) · Blood · doi:10.1182/blood.2021014205 · Cited by 61 · see citing works
Gene Therapy for Hemoglobinopathies
Cavazzana, M., & Mavilio, F. (2018) · Human Gene Therapy · doi:10.1089/hum.2018.122 · Cited by 60 · see citing works
Self-citationLamsfus‐Calle, A., Daniel-Moreno, A., Antony, J. S., Epting, T., Heumos, L., Baskaran, P., Admard, J., Casadei, N., Latifi, N., Siegmund, D. M., et al. (2020) · Scientific Reports · doi:10.1038/s41598-020-66309-x · Cited by 59 · see citing works
Thalassemias: from gene to therapy
Simone, G. D., Quattrocchi, A., Mancini, B., di Masi, A., Nervi, C., & Ascenzi, P. (2021) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2021.101028 · Cited by 55 · see citing works
Hematopoietic Stem Cell Gene-Addition/Editing Therapy in Sickle Cell Disease
Germino-Watnick, P., Hinds, M., Le, A., Chu, R., Liu, X., & Uchida, N. (2022) · Cells · doi:10.3390/cells11111843 · Cited by 59 · see citing works
Genetic modifiers of fetal haemoglobin in sickle cell disease
Menzel, S., & Thein, S. L. (2019) · Molecular Diagnosis & Therapy · doi:10.1007/s40291-018-0370-8 · Cited by 50 · see citing works
Recent Advances in CRISPR/Cas9 Delivery Approaches for Therapeutic Gene Editing of Stem Cells
Lotfi, M., Rad, D. M., Mashhadi, S., Ashouri, A., Mojarrad, M., Mozaffari‐Jovin, S., Farrokhi, S., Hashemi, M., Lotfi, M., Warkiani, M. E., et al. (2023) · Stem Cell Reviews and Reports · doi:10.1007/s12015-023-10585-3 · Cited by 54 · see citing works
Lux, C. T., Pattabhi, S., Berger, M. P., Nourigat, C., Flowers, D. A., Nègre, O., Humbert, O., Yang, J., Lee, C., Jacoby, K., et al. (2018) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2018.12.008 · Cited by 50 · see citing works
Gutiérrez-Guerrero, A., Abrey-Recalde, M. J., Mangeot, P. E., Costa, C., Bernadin, O., Perian, S., Fusil, F., Froment, G., Martinez-Turtos, A., Krug, A., et al. (2021) · Frontiers in Genome Editing · doi:10.3389/fgeed.2021.604371 · Cited by 51 · see citing works
CRISPR-Cas9 to induce fetal hemoglobin for the treatment of sickle cell disease
Demirci, S., Leonard, A. K., Essawi, K., & Tisdale, J. F. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.09.010 · Cited by 50 · see citing works
Comparing the two leading erythroid lines BEL-A and HUDEP-2
Daniels, D. E., Downes, D. J., Vicens, I. F., Ferguson, D. C. J., Singleton, B. K., Wilson, M. C., Trakarnsanga, K., Kurita, R., Nakamura, Y., Anstee, D. J., et al. (2019) · Haematologica · doi:10.3324/haematol.2019.229211 · Cited by 46 · see citing works
Self-citationCRISPRthripsis: The Risk of CRISPR/Cas9-induced Chromothripsis in Gene Therapy
Amendola, M., Brusson, M., & Miccio, A. (2022) · Stem Cells Translational Medicine · doi:10.1093/stcltm/szac064 · Cited by 46 · see citing works
Self-citationTherapy Development by Genome Editing of Hematopoietic Stem Cells
Koniali, L., Lederer, C. W., & Kleanthous, M. (2021) · Cells · doi:10.3390/cells10061492 · Cited by 46 · see citing works
Curative options for sickle cell disease: haploidentical stem cell transplantation or gene therapy?
Leonard, A., Tisdale, J., & Abraham, A. (2020) · British Journal of Haematology · doi:10.1111/bjh.16437 · Cited by 45 · see citing works
Cosenza, L. C., Gasparello, J., Romanini, N., Zurlo, M., Zuccato, C., Gambari, R., & Finotti, A. (2021) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2021.03.025 · Cited by 43 · see citing works
NEW THERAPEUTIC OPTIONS FOR THE TREATMENT OF SICKLE CELL DISEASE
Mattè, A., Mazzi, F., Federti, E., Olivieri, O., & Franceschi, L. D. (2019) · Mediterranean Journal of Hematology and Infectious Diseases · doi:10.4084/mjhid.2019.002 · Cited by 42 · see citing works
Porter, J. B. (2018) · Hematology · doi:10.1182/asheducation-2018.1.361 · Cited by 39 · see citing works
Therapeutic gene editing in haematological disorders with CRISPR /Cas9
Jensen, T. I., Axelgaard, E., & Bak, R. O. (2019) · British Journal of Haematology · doi:10.1111/bjh.15851 · Cited by 39 · see citing works
CRISPR/Cas9-based gene-editing technology for sickle cell disease
Ma, L., Yang, S., Peng, Q., Zhang, J., & Zhang, J. (2023) · Gene · doi:10.1016/j.gene.2023.147480 · Cited by 44 · see citing works
Revolutionising healing: Gene Editing's breakthrough against sickle cell disease
Dimitrievska, M., Bansal, D., Vitale, M., Strouboulis, J., Miccio, A., Nicolaides, K. H., Hoss, S. E., Shangaris, P., & Jackow, J. (2024) · Blood Reviews · doi:10.1016/j.blre.2024.101185 · Cited by 39 · see citing works
Self-citationDaniel-Moreno, A., Lamsfus‐Calle, A., Raju, J., Antony, J. S., Handgretinger, R., & Mezger, M. (2019) · Bone Marrow Transplantation · doi:10.1038/s41409-019-0510-8 · Cited by 37 · see citing works
CRISPR/Cas-Dependent and Nuclease-Free In Vivo Therapeutic Gene Editing
Dasgupta, I., Flotte, T. R., & Keeler, A. M. (2021) · Human Gene Therapy · doi:10.1089/hum.2021.013 · Cited by 37 · see citing works
Zuccato, C., Cosenza, L. C., Zurlo, M., Gasparello, J., Papi, C., D’Aversa, E., Breveglieri, G., Lampronti, I., Finotti, A., Borgatti, M., et al. (2022) · Therapeutic Advances in Hematology · doi:10.1177/20406207221100648 · Cited by 36 · see citing works
Emerging pharmacotherapeutic approaches for the management of sickle cell disease
Torres, L. S., & Conran, N. (2018) · Expert Opinion on Pharmacotherapy · doi:10.1080/14656566.2018.1548610 · Cited by 33 · see citing works
Improved Cas9 activity by specific modifications of the tracrRNA
Scott, T. A., Urak, R. Z., Soemardy, C., & Morris, K. V. (2019) · Scientific Reports · doi:10.1038/s41598-019-52616-5 · Cited by 35 · see citing works
Rab, M. A. E., Kanne, C. K., Bos, J., van Oirschot, B. A., Boisson, C., Houwing, M. E., Gerritsma, J. J., Teske, E., Renoux, C., Riedl, J., et al. (2020) · American Journal of Hematology · doi:10.1002/ajh.26031 · Cited by 33 · see citing works
A unified model of human hemoglobin switching through single-cell genome editing
Shen, Y., Verboon, J. M., Zhang, Y., Liu, N., Kim, Y. J., Marglous, S., Nandakumar, S. K., Voit, R. A., Fiorini, C., Ejaz, A., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-25298-9 · Cited by 32 · see citing works
Genome Editing for β-Hemoglobinopathies: Advances and Challenges
Frati, G., & Miccio, A. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10030482 · Cited by 31 · see citing works
Self-citationCRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia
Zeng, S., Lei, S.-Y., Qu, C., Wang, Y., Teng, S., & Huang, P. C. (2023) · Human Genetics · doi:10.1007/s00439-023-02610-9 · Cited by 31 · see citing works
Genome editing strategies for fetal hemoglobin induction in beta-hemoglobinopathies
Demirci, S., Leonard, A. K., & Tisdale, J. F. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa088 · Cited by 31 · see citing works
CRISPR/Cas9 increases mitotic gene conversion in human cells
Javidi-Parsijani, P., Lyu, P., Makani, V. S., Sarhan, W. M., Yoo, K. W., El-Korashi, L. A., Atala, A., & Lu, B. (2020) · Gene Therapy · doi:10.1038/s41434-020-0126-z · Cited by 28 · see citing works
Demirci, S., Gudmundsdottir, B., Li, Q., Haro‐Mora, J. J., Nassehi, T., Drysdale, C. M., Yapundich, M., Gamer, J., Seifuddin, F., Tisdale, J. F., et al. (2020) · Molecular Therapy — Methods & Clinical Development · doi:10.1016/j.omtm.2020.04.013 · Cited by 27 · see citing works
Genome editing using CRISPR/Cas9 to treat hereditary hematological disorders
Chen, Y., Wen, R., Yang, Z., & Chen, Z. (2021) · Gene Therapy · doi:10.1038/s41434-021-00247-9 · Cited by 28 · see citing works
Editing outside the body: Ex vivo gene-modification for β-hemoglobinopathy cellular therapy
Rosanwo, T. O., & Bauer, D. E. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.10.002 · Cited by 27 · see citing works
Precision Editing as a Therapeutic Approach for β-Hemoglobinopathies
Paschoudi, K., Yannaki, E., & Psatha, N. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms24119527 · Cited by 30 · see citing works
Promise of gene therapy to treat sickle cell disease
Romero, Z. G., DeWitt, M. A., & Walters, M. C. (2018) · Expert Opinion on Biological Therapy · doi:10.1080/14712598.2018.1536119 · Cited by 26 · see citing works
Allosteric inhibition of CRISPR-Cas9 by bacteriophage-derived peptides
Cui, Y.-R., Wang, S.-J., Chen, J., Li, J., Chen, W., Wang, S., Meng, B., Zhu, W., Zhang, Z., Yang, B., et al. (2020) · Genome biology · doi:10.1186/s13059-020-01956-x · Cited by 26 · see citing works
Zuccato, C., Cosenza, L. C., Zurlo, M., Lampronti, I., Borgatti, M., Scapoli, C., Gambari, R., & Finotti, A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222413433 · Cited by 26 · see citing works
CRISPR-Cas9 interrogation of a putative fetal globin repressor in human erythroid cells
Chung, J. E., Magis, W., Vu, J. T., Heo, S., Wartiovaara, K., Walters, M. C., Kurita, R., Nakamura, Y., Boffelli, D., Martin, D. I. K., et al. (2019) · PLoS ONE · doi:10.1371/journal.pone.0208237 · Cited by 25 · see citing works
Self-citationBeta‐thalassemia and the advent of new interventions beyond transfusion and iron chelation
Chauhan, W., Shoaib, S., Fatma, R., Zaka‐ur‐Rab, Z., & Afzal, M. (2022) · British Journal of Clinical Pharmacology · doi:10.1111/bcp.15343 · Cited by 25 · see citing works
Advances in therapeutic application of CRISPR-Cas9
Sun, J., Wang, J., Zheng, D., & Hu, X. (2019) · Briefings in Functional Genomics · doi:10.1093/bfgp/elz031 · Cited by 25 · see citing works
Oikonomopoulou, C., & Goussetis, E. (2021) · Bone Marrow Transplantation · doi:10.1038/s41409-021-01461-0 · Cited by 24 · see citing works
EHA Research Roadmap on Hemoglobinopathies and Thalassemia: An Update
Iolascon, A., Franceschi, L. D., Muckenthaler, M. U., Taher, A. T., Rees, D. C., de Montalembert, M., Rivella, S., Eleftheriou, A., & Cappellini, M. D. (2019) · HemaSphere · doi:10.1097/hs9.0000000000000208 · Cited by 23 · see citing works
Venkatesan, V., Srinivasan, S., Babu, P., & Thangavel, S. (2020) · Molecular and Cellular Biology · doi:10.1128/mcb.00253-20 · Cited by 22 · see citing works
Shanahan, M. A., Aagaard, K. M., McCullough, L. B., Chervenak, F. A., & Shamshirsaz, A. A. (2021) · American Journal of Obstetrics and Gynecology · doi:10.1016/j.ajog.2021.09.001 · Cited by 20 · see citing works
Han, Y., Tan, X., Jin, T., Zhao, S., Li, H., Zhang, W., Kurita, R., Nakamura, Y., Liu, J., Li, D., et al. (2022) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2022.174788 · Cited by 21 · see citing works
Self-citationTherapeutic gene editing strategies using CRISPR-Cas9 for the β-hemoglobinopathies
Papizan, J. B., Porter, S. N., Sharma, A., & Pruett‐Miller, S. M. (2020) · Journal of Biomedical Research · doi:10.7555/jbr.34.20200096 · Cited by 19 · see citing works
Advances in CRISPR/Cas gene therapy for inborn errors of immunity
Liu, X.-Y., Li, G.-L., Liu, Y., Zhou, F.-L., Huang, X., & Li, K. (2023) · Frontiers in Immunology · doi:10.3389/fimmu.2023.1111777 · Cited by 19 · see citing works
Genome-based therapeutic interventions for β-type hemoglobinopathies
Karamperis, K., Tsoumpeli, M. T., Kounelis, F., Koromina, M., Mitropoulou, C., Moutinho, C., & Patrinos, G. P. (2021) · Human Genomics · doi:10.1186/s40246-021-00329-0 · Cited by 20 · see citing works
Kurita, R., Funato, K., ABE, T. K., Watanabe, Y., Shiba, M., Tadokoro, K., Nakamura, Y., Nagai, T., & Satake, M. (2018) · Experimental Hematology · doi:10.1016/j.exphem.2018.10.005 · Cited by 20 · see citing works
Self-citationA Small Key for a Heavy Door: Genetic Therapies for the Treatment of Hemoglobinopathies
Zittersteijn, H. A., Harteveld, C. L., Klaver-Flores, S., Lankester, A. C., Hoeben, R. C., Staal, F. J. T., & Gonçalves, M. A. F. V. (2021) · Frontiers in Genome Editing · doi:10.3389/fgeed.2020.617780 · Cited by 20 · see citing works
In Vivo Hematopoietic Stem Cell Genome Editing: Perspectives and Limitations
Psatha, N., Paschoudi, K., Παπαδοπούλου, Α., & Yannaki, E. (2022) · Genes · doi:10.3390/genes13122222 · Cited by 23 · see citing works
Brusson, M., Chalumeau, A., Martinucci, P., Romano, O., Félix, T., Poletti, V., Scaramuzza, S., Ramadier, S., Masson, C., Ferrari, G., et al. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.03.012 · Cited by 23 · see citing works
Self-citationRab, M. A. E., Kanne, C. K., Boisson, C., Bos, J., van Oirschot, B. A., Houwing, M. E., Renoux, C., Bartels, M., Rijneveld, A. W., Nur, E., et al. (2023) · Blood Advances · doi:10.1182/bloodadvances.2023011013 · Cited by 18 · see citing works
SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II
King, R., Lin, Z., Balbin-Cuesta, G., Myers, G., Friedman, A. D., Zhu, G., McGee, B. M., Saunders, T. L., Kurita, R., Nakamura, Y., et al. (2021) · Science Advances · doi:10.1126/sciadv.abj5293 · Cited by 18 · see citing works
Self-citationCRISPR/Cas9, a promising approach for the treatment of β-thalassemia: a systematic review
Khiabani, A., Kohansal, M. H., Keshavarzi, A., Shahraki, H., Kooshesh, M., Karimzade, M., & Navashenaq, J. G. (2022) · Molecular Genetics and Genomics · doi:10.1007/s00438-022-01978-z · Cited by 18 · see citing works
Antony, J. S., Haque, A. K. M. A., Lamsfus‐Calle, A., Daniel-Moreno, A., Mezger, M., & Kormann, M. (2018) · Advances in Cell and Gene Therapy · doi:10.1002/acg2.10 · Cited by 18 · see citing works
Combination of lentiviral and genome editing technologies for the treatment of sickle cell disease
Ramadier, S., Chalumeau, A., Félix, T., Othman, N., Aknoun, S., Casini, A., Maule, G., Masson, C., Cian, A. D., Frati, G., et al. (2021) · Molecular Therapy · doi:10.1016/j.ymthe.2021.08.019 · Cited by 17 · see citing works
Self-citationVenkatesan, V., Christopher, A. C., Rhiel, M., Azhagiri, M. K. K., Babu, P., Walavalkar, K., Saravanan, B., Andrieux, G., Rangaraj, S., Srinivasan, S., et al. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.04.024 · Cited by 17 · see citing works
Self-citationMattè, A., Cappellini, M. D., Iolascon, A., Federti, E., & Franceschi, L. D. (2019) · Expert Opinion on Investigational Drugs · doi:10.1080/13543784.2020.1703947 · Cited by 17 · see citing works
Mingoia, M., Caria, C. A., Ye, L., Asunis, I., Marongiu, M. F., Manunza, L., Sollaino, M. C., Wang, J., Cabriolu, A., Kurita, R., et al. (2020) · British Journal of Haematology · doi:10.1111/bjh.17167 · Cited by 17 · see citing works
Self-citationGeng, K., Merino, L. G., Wedemann, L., Martens, A., Sobota, M., Sanchez, Y. P., Søndergaard, J. N., White, R. J., & Kutter, C. (2022) · Genome Research · doi:10.1101/gr.276901.122 · Cited by 18 · see citing works
Recent advancements in gene therapy for sickle cell disease and β-thalassemia
Li, L., & Mandal, P. K. (2024) · Frontiers in Hematology · doi:10.3389/frhem.2024.1468952 · Cited by 22 · see citing works
Modarai, S., Kanda, S., Bloh, K. M., Opdenaker, L. M., & Kmiec, E. B. (2020) · Gene Therapy · doi:10.1038/s41434-020-00192-z · Cited by 16 · see citing works
Multi-modification of food protein: Design, structural transformation, and functional application
Tang, W., Qu, J., Zhang, Y., Chen, J., Liu, W., He, J., & Liu, J. (2025) · Food Chemistry · doi:10.1016/j.foodchem.2025.146644 · Cited by 15 · see citing works
- Authors
- Antoniani, C., Meneghini, V., Lattanzi, A., Felix, T., Romano, O., Magrin, E., Weber, L., Pavani, G., El Hoss, S., Kurita, R., Nakamura, Y., Cradick, T. J., Lundberg, A. S., Porteus, M., Amendola, M., El Nemer, W., Cavazzana, M., Mavilio, F., & Miccio, A.
- Affiliations
- Inserm (FR)
- Laboratory of Chromatin and Gene Regulation during Development, Imagine Institute, INSERM Unité Mixte de Recherche (UMR)1163, Paris, France;
- University of Modena and Reggio Emilia (IT)
- Hôpital Necker-Enfants Malades (FR)
- Sorbonne Paris Cité University, Paris Diderot University, INSERM, Institut National de la Transfusion Sanguine, Unité Biologie Intégrée du Globule Rouge, Laboratoire d’Excellence GR-Ex, Paris, France;
- RIKEN (JP)
- CRISPR Therapeutics, Cambridge, MA;
- Stanford Medicine (US)
- Corresponding author
- Antoniani, Chiara
- Meneghini, Vasco
- ORCID
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2018-04-26
- Volume
- 131
- Issue
- 17
- Pages
- 1960-1973
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2793205487
- Cited by
- 194
- References
- 69
- Citations by year
- 2026: 10 · 2025: 8 · 2024: 18 · 2023: 24 · 2022: 22 · 2021: 39 · 2020: 24 · 2019: 26 · 2018: 23
- FWCI
- 15.84
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- other-oa
- Locations
- Blood (publishedVersion, other-oa)
- PubMed (publishedVersion)
- HAL (submittedVersion, other-oa)
- IRIS UNIMORE (University of Modena and Reggio Emilia) (submittedVersion, cc-by)
- HAL (submittedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- Padua Research Archive (University of Padova) (submittedVersion)
- Funders
- Agence Nationale de la Recherche (ANR-10-IAHU- 01, ANR-16-CE18-0004, ANR-11-LABX-0051, ANR-10-IAHU-0001, ANR-16, 10-IAHU-01, ANR-10)
- Topics
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › CRISPR and Genetic Engineering
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Virus-based gene therapy research
- Keywords
- fetal hemoglobin reactivation, CRISPR/Cas9 genome editing, beta-globin locus, sickle cell disease, beta-thalassemia, hereditary persistence of fetal hemoglobin, γ-globin expression, delta-globin gene, hematopoietic stem and progenitor cells, epigenetic modifications, chromatin interactions, β-hemoglobinopathies
- MeSH terms
- Gene Editing, Anemia, Sickle Cell, Cell Line, Fetal Hemoglobin, Hematopoietic Stem Cells, Humans, beta-Globins, Genetic Loci, CRISPR-Cas Systems
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
