{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,25]],"date-time":"2026-08-25T18:23:02Z","timestamp":1787682182686,"version":"build-2784847793"},"reference-count":127,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T00:00:00Z","timestamp":1623283200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"},{"start":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T00:00:00Z","timestamp":1623283200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Dermatol Ther (Heidelb)"],"published-print":{"date-parts":[[2021,8]]},"DOI":"10.1007\/s13555-021-00561-5","type":"journal-article","created":{"date-parts":[[2021,6,10]],"date-time":"2021-06-10T11:08:48Z","timestamp":1623323328000},"page":"1175-1197","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":26,"title":["Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa"],"prefix":"10.1007","volume":"11","author":[{"given":"Tobias","family":"Welponer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Prodinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Josefina","family":"Pinon-Hofbauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arno","family":"Hintersteininger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannelore","family":"Breitenbach-Koller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johann W.","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Laimer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,6,10]]},"reference":[{"key":"561_CR1","doi-asserted-by":"publisher","first-page":"12","DOI":"10.1186\/1750-1172-5-12","volume":"5","author":"JD Fine","year":"2010","unstructured":"Fine JD. Inherited epidermolysis bullosa. Orphanet J Rare Dis. 2010;5:12.","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"561_CR2","doi-asserted-by":"publisher","first-page":"614","DOI":"10.1111\/bjd.18921","volume":"183","author":"C Has","year":"2020","unstructured":"Has C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020;183(4):614\u201327.","journal-title":"Br J Dermatol"},{"issue":"3","key":"561_CR3","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.jaad.2009.03.052","volume":"61","author":"J-D Fine","year":"2009","unstructured":"Fine J-D, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol. 2009;61(3):367\u201384.","journal-title":"J Am Acad Dermatol"},{"issue":"3","key":"561_CR4","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1016\/j.jaad.2009.03.053","volume":"61","author":"J-D Fine","year":"2009","unstructured":"Fine J-D, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol. 2009;61(3):387\u2013404.","journal-title":"J Am Acad Dermatol"},{"issue":"5","key":"561_CR5","doi-asserted-by":"publisher","first-page":"1122","DOI":"10.1111\/bjd.14312","volume":"174","author":"S Turczynski","year":"2016","unstructured":"Turczynski S, et al. Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL 7A1 mutation. Br J Dermatol. 2016;174(5):1122\u20135.","journal-title":"Br J Dermatol"},{"issue":"15","key":"561_CR6","doi-asserted-by":"publisher","first-page":"3907","DOI":"10.1093\/hmg\/ddu102","volume":"23","author":"T Odorisio","year":"2014","unstructured":"Odorisio T, et al. Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-\u03b2 signalling in modifying disease severity. Hum Mol Genet. 2014;23(15):3907\u201322.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"561_CR7","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1111\/bjd.12317","volume":"169","author":"H Schumann","year":"2013","unstructured":"Schumann H, et al. Phenotypic spectrum of epidermolysis bullosa associated with \u03b16\u03b24 integrin mutations. Br J Dermatol. 2013;169(1):115\u201324.","journal-title":"Br J Dermatol"},{"issue":"7","key":"561_CR8","doi-asserted-by":"publisher","first-page":"450","DOI":"10.1136\/jmg.2010.086751","volume":"48","author":"D Kiritsi","year":"2011","unstructured":"Kiritsi D, et al. Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa. J Med Genet. 2011;48(7):450\u20137.","journal-title":"J Med Genet"},{"issue":"3","key":"561_CR9","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1046\/j.1523-1747.1999.00709.x","volume":"113","author":"JA McGrath","year":"1999","unstructured":"McGrath JA, et al. Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations. J Investig Dermatol. 1999;113(3):314\u201321.","journal-title":"J Investig Dermatol"},{"issue":"7","key":"561_CR10","doi-asserted-by":"publisher","first-page":"1445","DOI":"10.1016\/j.ajpath.2017.03.003","volume":"187","author":"F Cianfarani","year":"2017","unstructured":"Cianfarani F, et al. Pathomechanisms of altered wound healing in recessive dystrophic epidermolysis bullosa. Am J Pathol. 2017;187(7):1445\u201353.","journal-title":"Am J Pathol"},{"issue":"42","key":"561_CR11","doi-asserted-by":"publisher","first-page":"e1528","DOI":"10.1097\/MD.0000000000001528","volume":"94","author":"G Annicchiarico","year":"2015","unstructured":"Annicchiarico G, et al. Proinflammatory cytokines and antiskin autoantibodies in patients with inherited epidermolysis bullosa. Medicine. 2015;94(42):e1528.","journal-title":"Medicine"},{"issue":"7","key":"561_CR12","doi-asserted-by":"publisher","first-page":"1901","DOI":"10.1038\/jid.2013.31","volume":"133","author":"V Wally","year":"2013","unstructured":"Wally V, et al. The pathogenetic role of IL-1\u03b2 in severe epidermolysis bullosa simplex. J Investig Dermatol. 2013;133(7):1901\u20133.","journal-title":"J Investig Dermatol"},{"issue":"2","key":"561_CR13","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1111\/bjd.16897","volume":"180","author":"E Castela","year":"2019","unstructured":"Castela E, et al. Epidermolysis bullosa simplex generalized severe induces a T helper 17 response and is improved by apremilast treatment. Br J Dermatol. 2019;180(2):357\u201364.","journal-title":"Br J Dermatol"},{"issue":"10","key":"561_CR14","doi-asserted-by":"publisher","first-page":"1625","DOI":"10.3390\/ijms17101625","volume":"17","author":"S Esposito","year":"2016","unstructured":"Esposito S, et al. Autoimmunity and cytokine imbalance in inherited epidermolysis bullosa. Int J Mol Sci. 2016;17(10):1625.","journal-title":"Int J Mol Sci"},{"key":"561_CR15","doi-asserted-by":"publisher","first-page":"664","DOI":"10.1111\/exd.14304","volume":"30","author":"K Twaroski","year":"2021","unstructured":"Twaroski K, et al. Role of transforming growth factor-beta1 in recessive dystrophic epidermolysis bullosa squamous cell carcinoma. Exp Dermatol. 2021;30:664\u201375.","journal-title":"Exp Dermatol"},{"issue":"14","key":"561_CR16","doi-asserted-by":"publisher","first-page":"3522","DOI":"10.1158\/0008-5472.CAN-11-2996","volume":"72","author":"YZ Ng","year":"2012","unstructured":"Ng YZ, et al. Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. Cancer Res. 2012;72(14):3522\u201334.","journal-title":"Cancer Res"},{"issue":"9","key":"561_CR17","doi-asserted-by":"publisher","first-page":"1211","DOI":"10.15252\/emmm.201505061","volume":"7","author":"A Nystr\u00f6m","year":"2015","unstructured":"Nystr\u00f6m A, et al. Losartan ameliorates dystrophic epidermolysis bullosa and uncovers new disease mechanisms. EMBO Mol Med. 2015;7(9):1211\u201328.","journal-title":"EMBO Mol Med"},{"issue":"5","key":"561_CR18","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1016\/j.jaad.2012.01.016","volume":"67","author":"E Pope","year":"2012","unstructured":"Pope E, et al. A consensus approach to wound care in epidermolysis bullosa. J Am Acad Dermatol. 2012;67(5):904\u201317.","journal-title":"J Am Acad Dermatol"},{"key":"561_CR19","doi-asserted-by":"publisher","first-page":"178","DOI":"10.1186\/s12916-014-0178-2","volume":"12","author":"KR Goldschneider","year":"2014","unstructured":"Goldschneider KR, et al. Pain care for patients with epidermolysis bullosa: best care practice guidelines. BMC Med. 2014;12:178.","journal-title":"BMC Med"},{"issue":"1","key":"561_CR20","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1186\/s13023-019-1059-8","volume":"14","author":"JM Chan","year":"2019","unstructured":"Chan JM, et al. Occupational therapy for epidermolysis bullosa: clinical practice guidelines. Orphanet J Rare Dis. 2019;14(1):129.","journal-title":"Orphanet J Rare Dis"},{"key":"561_CR21","doi-asserted-by":"crossref","unstructured":"Pi\u00f1\u00f3n Hofbauer J, et al. Therapy development for epidermolysis bullosa [online first]. IntechOpen. 2021. https:\/\/www.intechopen.com\/online-first\/therapy-development-for-epidermolysis-bullosa. Accessed 5 April 2021","DOI":"10.5772\/intechopen.97437"},{"issue":"6","key":"561_CR22","doi-asserted-by":"publisher","first-page":"1221","DOI":"10.1016\/j.jid.2018.11.036","volume":"139","author":"MP Marinkovich","year":"2019","unstructured":"Marinkovich MP, Tang JY. Gene therapy for epidermolysis bullosa. J Investig Dermatol. 2019;139(6):1221\u20136.","journal-title":"J Investig Dermatol"},{"issue":"5","key":"561_CR23","doi-asserted-by":"publisher","first-page":"a035667","DOI":"10.1101\/cshperspect.a035667","volume":"12","author":"L De Rosa","year":"2020","unstructured":"De Rosa L, et al. Toward combined cell and gene therapy for genodermatoses. Cold Spring Harb Perspect Biol. 2020;12(5):a035667.","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"561_CR24","doi-asserted-by":"publisher","first-page":"515","DOI":"10.3389\/fgene.2021.658295","volume":"12","author":"U Koller","year":"2021","unstructured":"Koller U, Bauer JW. Gene replacement therapies for genodermatoses: a status quo. Front Genet. 2021;12:515.","journal-title":"Front Genet"},{"issue":"8","key":"561_CR25","doi-asserted-by":"publisher","first-page":"2302","DOI":"10.1073\/pnas.84.8.2302","volume":"84","author":"Y Barrandon","year":"1987","unstructured":"Barrandon Y, Green H. Three clonal types of keratinocyte with different capacities for multiplication. Proc Natl Acad Sci USA. 1987;84(8):2302\u20136.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"1","key":"561_CR26","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.stemcr.2013.11.001","volume":"2","author":"L De Rosa","year":"2014","unstructured":"De Rosa L, et al. Long-term stability and safety of transgenic cultured epidermal stem cells in gene therapy of junctional epidermolysis bullosa. Stem Cell Rep. 2014;2(1):1\u20138.","journal-title":"Stem Cell Rep"},{"issue":"12","key":"561_CR27","doi-asserted-by":"publisher","first-page":"1397","DOI":"10.1038\/nm1504","volume":"12","author":"F Mavilio","year":"2006","unstructured":"Mavilio F, et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med. 2006;12(12):1397\u2013402.","journal-title":"Nat Med"},{"issue":"3","key":"561_CR28","doi-asserted-by":"publisher","first-page":"778","DOI":"10.1016\/j.jid.2016.10.038","volume":"137","author":"JW Bauer","year":"2017","unstructured":"Bauer JW, et al. Closure of a large chronic wound through transplantation of gene-corrected epidermal stem cells. J Investig Dermatol. 2017;137(3):778\u201381.","journal-title":"J Investig Dermatol"},{"issue":"7680","key":"561_CR29","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1038\/nature24487","volume":"551","author":"T Hirsch","year":"2017","unstructured":"Hirsch T, et al. Regeneration of the entire human epidermis using transgenic stem cells. Nature. 2017;551(7680):327\u201332.","journal-title":"Nature"},{"issue":"7","key":"561_CR30","doi-asserted-by":"publisher","first-page":"2036","DOI":"10.1016\/j.celrep.2019.04.055","volume":"27","author":"L De Rosa","year":"2019","unstructured":"De Rosa L, et al. Laminin 332-dependent YAP dysregulation depletes epidermal stem cells in junctional epidermolysis bullosa. Cell Rep. 2019;27(7):2036-2049.e6.","journal-title":"Cell Rep"},{"issue":"19","key":"561_CR31","doi-asserted-by":"publisher","first-page":"e130554","DOI":"10.1172\/jci.insight.130554","volume":"4","author":"S Eichstadt","year":"2019","unstructured":"Eichstadt S, et al. Phase 1\/2a clinical trial of gene-corrected autologous cell therapy for recessive dystrophic epidermolysis bullosa. JCI Insight. 2019;4(19):e130554.","journal-title":"JCI Insight"},{"issue":"9\u201310","key":"561_CR32","doi-asserted-by":"publisher","first-page":"1242","DOI":"10.1177\/0963689719857657","volume":"28","author":"DM Supp","year":"2019","unstructured":"Supp DM, et al. Collagen VII expression is required in both keratinocytes and fibroblasts for anchoring fibril formation in bilayer engineered skin substitutes. Cell Transplant. 2019;28(9\u201310):1242\u201356.","journal-title":"Cell Transplant"},{"issue":"10","key":"561_CR33","doi-asserted-by":"publisher","first-page":"3194","DOI":"10.1073\/pnas.83.10.3194","volume":"83","author":"SF Yu","year":"1986","unstructured":"Yu SF, et al. Self-inactivating retroviral vectors designed for transfer of whole genes into mammalian cells. Proc Natl Acad Sci USA. 1986;83(10):3194\u20138.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"12","key":"561_CR34","doi-asserted-by":"publisher","first-page":"9873","DOI":"10.1128\/JVI.72.12.9873-9880.1998","volume":"72","author":"R Zufferey","year":"1998","unstructured":"Zufferey R, et al. Self-inactivating lentivirus vector for safe and efficient in vivo gene delivery. J Virol. 1998;72(12):9873\u201380.","journal-title":"J Virol"},{"issue":"3","key":"561_CR35","doi-asserted-by":"publisher","first-page":"794","DOI":"10.1111\/bjd.18559","volume":"182","author":"S Gaucher","year":"2020","unstructured":"Gaucher S, Lwin SM. EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I\/II gene therapy trial for recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2020;182(3):794\u20137.","journal-title":"Br J Dermatol"},{"issue":"10","key":"561_CR36","doi-asserted-by":"publisher","first-page":"1176","DOI":"10.1111\/exd.13979","volume":"28","author":"C Prodinger","year":"2019","unstructured":"Prodinger C, et al. Epidermolysis bullosa: advances in research and treatment. Exp Dermatol. 2019;28(10):1176\u201389.","journal-title":"Exp Dermatol"},{"key":"561_CR37","doi-asserted-by":"crossref","unstructured":"Marinkovich MP, et al. 305 In vivo correction of recessive dystrophic epidermolysis bullosa (RDEB) by direct cutaneous COL7A1 gene replacement: results of a phase 1\u20132 trial. In: Society for Investigative Dermatology (SID) 2020 Meeting Abstract Supplement. J Investig Dermatol. 2020;140(7):S37.","DOI":"10.1016\/j.jid.2020.03.311"},{"key":"561_CR38","unstructured":"Krystal biotech announces final update from phase 1\/2 clinical trial of KB103 (\u201cbercolagene telserpavec,\u201d \u201cB-VEC\u201d). 2019\/10\/29, https:\/\/ir.krystalbio.com\/news-releases\/news-release-details\/krystal-biotech-announces-final-update-phase-12-clinical-trial. Accessed 5 Mar 2021."},{"issue":"2","key":"561_CR39","doi-asserted-by":"publisher","first-page":"91","DOI":"10.4161\/hv.4.2.6212","volume":"4","author":"P Marconi","year":"2008","unstructured":"Marconi P, et al. HSV as a vector in vaccine development and gene therapy. Hum Vaccine. 2008;4(2):91\u2013105.","journal-title":"Hum Vaccine"},{"issue":"10","key":"561_CR40","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1111\/exd.13054","volume":"25","author":"L Cutlar","year":"2016","unstructured":"Cutlar L, et al. A non-viral gene therapy for treatment of recessive dystrophic epidermolysis bullosa. Exp Dermatol. 2016;25(10):818\u201320.","journal-title":"Exp Dermatol"},{"issue":"34","key":"561_CR41","doi-asserted-by":"publisher","first-page":"30661","DOI":"10.1021\/acsami.9b13135","volume":"11","author":"M Zeng","year":"2019","unstructured":"Zeng M, et al. Efficient and robust highly branched poly(\u03b2-amino ester)\/minicircle COL7A1 polymeric nanoparticles for gene delivery to recessive dystrophic epidermolysis bullosa keratinocytes. ACS Appl Mater Interfaces. 2019;11(34):30661\u201372.","journal-title":"ACS Appl Mater Interfaces"},{"issue":"220","key":"561_CR42","first-page":"13","volume":"100","author":"M Sumeray","year":"2020","unstructured":"Sumeray M. OP34: non-viral gene therapy for epidermolysis bullosa. In: EB2020 1st world congress on epidermolysis bullosa, January 19\u201323, 2020, London, UK. Acta Derm Venereol. 2020;100(220):13.","journal-title":"Acta Derm Venereol"},{"issue":"11","key":"561_CR43","doi-asserted-by":"publisher","first-page":"1112","DOI":"10.1111\/exd.14194","volume":"29","author":"C Prodinger","year":"2020","unstructured":"Prodinger C, Bauer JW, Laimer M. Translational perspectives to treat epidermolysis bullosa-where do we stand? Exp Dermatol. 2020;29(11):1112\u201322.","journal-title":"Exp Dermatol"},{"issue":"5","key":"561_CR44","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1080\/07388551.2016.1214557","volume":"37","author":"SK Gupta","year":"2017","unstructured":"Gupta SK, Shukla P. Gene editing for cell engineering: trends and applications. Crit Rev Biotechnol. 2017;37(5):672\u201384.","journal-title":"Crit Rev Biotechnol"},{"issue":"11","key":"561_CR45","doi-asserted-by":"publisher","first-page":"2573","DOI":"10.1016\/j.ymthe.2017.07.005","volume":"25","author":"S Hainzl","year":"2017","unstructured":"Hainzl S, et al. COL7A1 editing via CRISPR\/Cas9 in recessive dystrophic epidermolysis bullosa. Mol Ther. 2017;25(11):2573\u201384.","journal-title":"Mol Ther"},{"issue":"11","key":"561_CR46","doi-asserted-by":"publisher","first-page":"2592","DOI":"10.1016\/j.ymthe.2018.07.024","volume":"26","author":"D Benati","year":"2018","unstructured":"Benati D, et al. CRISPR\/Cas9-mediated in situ correction of LAMB3 gene in keratinocytes derived from a junctional epidermolysis bullosa patient. Mol Ther. 2018;26(11):2592\u2013603.","journal-title":"Mol Ther"},{"issue":"11","key":"561_CR47","doi-asserted-by":"publisher","first-page":"2585","DOI":"10.1016\/j.ymthe.2017.08.015","volume":"25","author":"T Kocher","year":"2017","unstructured":"Kocher T, et al. Cut and paste: efficient homology-directed repair of a dominant negative KRT14 mutation via CRISPR\/Cas9 nickases. Mol Ther. 2017;25(11):2585\u201398.","journal-title":"Mol Ther"},{"issue":"6","key":"561_CR48","doi-asserted-by":"publisher","first-page":"2008","DOI":"10.1016\/j.ymthe.2021.02.019","volume":"29","author":"J Bonafont","year":"2021","unstructured":"Bonafont J, et al. Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing. Mol Ther. 2021;29(6):2008\u201318.","journal-title":"Mol Ther"},{"key":"561_CR49","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1016\/j.omtm.2017.06.008","volume":"6","author":"M Aushev","year":"2017","unstructured":"Aushev M, et al. Traceless targeting and isolation of gene-edited immortalized keratinocytes from epidermolysis bullosa simplex patients. Mol Ther Methods Clin Dev. 2017;6:112\u201323.","journal-title":"Mol Ther Methods Clin Dev"},{"issue":"6","key":"561_CR50","doi-asserted-by":"publisher","first-page":"1151","DOI":"10.1038\/mt.2013.56","volume":"21","author":"MJ Osborn","year":"2013","unstructured":"Osborn MJ, et al. TALEN-based gene correction for epidermolysis bullosa. Mol Ther. 2013;21(6):1151\u20139.","journal-title":"Mol Ther"},{"issue":"1","key":"561_CR51","doi-asserted-by":"publisher","first-page":"112","DOI":"10.3390\/cells9010112","volume":"9","author":"OP March","year":"2020","unstructured":"March OP, Kocher T. Context-dependent strategies for enhanced genome editing of genodermatoses. Cells. 2020;9(1):112.","journal-title":"Cells"},{"key":"561_CR52","doi-asserted-by":"publisher","first-page":"16014","DOI":"10.1038\/npjregenmed.2016.14","volume":"1","author":"BR Webber","year":"2016","unstructured":"Webber BR, et al. CRISPR\/Cas9-based genetic correction for recessive dystrophic epidermolysis bullosa. NPJ Regen Med. 2016;1:16014.","journal-title":"NPJ Regen Med"},{"issue":"3","key":"561_CR53","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1016\/j.jdermsci.2020.04.004","volume":"98","author":"M Itoh","year":"2020","unstructured":"Itoh M, et al. Footprint-free gene mutation correction in induced pluripotent stem cell (iPSC) derived from recessive dystrophic epidermolysis bullosa (RDEB) using the CRISPR\/Cas9 and piggyBac transposon system. J Dermatol Sci. 2020;98(3):163\u201372.","journal-title":"J Dermatol Sci"},{"issue":"264","key":"561_CR54","doi-asserted-by":"publisher","first-page":"264ra164","DOI":"10.1126\/scitranslmed.3009342","volume":"6","author":"N Umegaki-Arao","year":"2014","unstructured":"Umegaki-Arao N, et al. Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa. Sci Transl Med. 2014;6(264):264ra164.","journal-title":"Sci Transl Med"},{"issue":"264","key":"561_CR55","doi-asserted-by":"publisher","first-page":"264ra163","DOI":"10.1126\/scitranslmed.3009540","volume":"6","author":"V Sebastiano","year":"2014","unstructured":"Sebastiano V, et al. Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa. Sci Transl Med. 2014;6(264):264ra163.","journal-title":"Sci Transl Med"},{"issue":"52","key":"561_CR56","doi-asserted-by":"publisher","first-page":"26846","DOI":"10.1073\/pnas.1907081116","volume":"116","author":"J Jack\u00f3w","year":"2019","unstructured":"Jack\u00f3w J, et al. CRISPR\/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells. Proc Natl Acad Sci USA. 2019;116(52):26846\u201352.","journal-title":"Proc Natl Acad Sci USA"},{"issue":"3","key":"561_CR57","doi-asserted-by":"publisher","first-page":"e1007994","DOI":"10.1371\/journal.pgen.1007994","volume":"15","author":"M Thomas","year":"2019","unstructured":"Thomas M, Burgio G. Collateral damage and CRISPR genome editing. PLoS Genet. 2019;15(3):e1007994.","journal-title":"PLoS Genet"},{"key":"561_CR58","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1016\/j.omtn.2019.09.011","volume":"18","author":"T Kocher","year":"2019","unstructured":"Kocher T, et al. Improved double-nicking strategies for COL7A1-editing by homologous recombination. Mol Ther Nucleic Acids. 2019;18:496\u2013507.","journal-title":"Mol Ther Nucleic Acids"},{"issue":"12","key":"561_CR59","doi-asserted-by":"publisher","first-page":"2614","DOI":"10.1038\/sj.jid.5700435","volume":"126","author":"M Goto","year":"2006","unstructured":"Goto M, et al. Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients. J Investig Dermatol. 2006;126(12):2614\u201320.","journal-title":"J Investig Dermatol"},{"issue":"12","key":"561_CR60","doi-asserted-by":"publisher","first-page":"2387","DOI":"10.1016\/j.jid.2016.07.029","volume":"136","author":"S Turczynski","year":"2016","unstructured":"Turczynski S, et al. Targeted exon skipping restores type VII collagen expression and anchoring fibril formation in an in vivo RDEB model. J Investig Dermatol. 2016;136(12):2387\u201395.","journal-title":"J Investig Dermatol"},{"issue":"10","key":"561_CR61","doi-asserted-by":"publisher","first-page":"e379","DOI":"10.1038\/mtna.2016.87","volume":"5","author":"J Bremer","year":"2016","unstructured":"Bremer J, et al. Antisense oligonucleotide-mediated exon skipping as a systemic therapeutic approach for recessive dystrophic epidermolysis bullosa. Mol Ther Nucleic Acids. 2016;5(10):e379.","journal-title":"Mol Ther Nucleic Acids"},{"issue":"7","key":"561_CR62","doi-asserted-by":"publisher","first-page":"1302","DOI":"10.1038\/mt.2016.92","volume":"24","author":"O Bornert","year":"2016","unstructured":"Bornert O, et al. Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy. Mol Ther. 2016;24(7):1302\u201311.","journal-title":"Mol Ther"},{"key":"561_CR63","doi-asserted-by":"crossref","unstructured":"Marinkovich MP. 306 Topical QR-313, an antisense oligonucleotide, in the treatment of dystrophic epidermolysis bullosa. In: Society for Investigative Dermatology (SID) 2020 Meeting Abstract Supplement. J Investig Dermatol. 2020;140(7):S37.","DOI":"10.1016\/j.jid.2020.03.312"},{"key":"561_CR64","doi-asserted-by":"publisher","first-page":"883","DOI":"10.1016\/j.jid.2020.08.018","volume":"141","author":"O Bornert","year":"2020","unstructured":"Bornert O, et al. QR-313, an antisense oligonucleotide, shows therapeutic efficacy for treatment of\u00a0dominant and recessive dystrophic epidermolysis bullosa: a preclinical study. J Investig Dermatol. 2020;141:883\u201393.","journal-title":"J Investig Dermatol"},{"key":"561_CR65","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1016\/j.omtn.2019.09.009","volume":"18","author":"J Bremer","year":"2019","unstructured":"Bremer J, et al. Natural exon skipping sets the stage for exon skipping as therapy for dystrophic epidermolysis bullosa. Mol Ther Nucleic Acids. 2019;18:465\u201375.","journal-title":"Mol Ther Nucleic Acids"},{"issue":"3","key":"561_CR66","doi-asserted-by":"publisher","first-page":"651","DOI":"10.1083\/jcb.152.3.651","volume":"152","author":"T Cao","year":"2001","unstructured":"Cao T, et al. An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy. J Cell Biol. 2001;152(3):651\u20136.","journal-title":"J Cell Biol"},{"issue":"44","key":"561_CR67","doi-asserted-by":"publisher","first-page":"30248","DOI":"10.1074\/jbc.M109.045294","volume":"284","author":"A Fritsch","year":"2009","unstructured":"Fritsch A, et al. Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII. J Biol Chem. 2009;284(44):30248\u201356.","journal-title":"J Biol Chem"},{"issue":"6","key":"561_CR68","doi-asserted-by":"publisher","first-page":"1741","DOI":"10.1038\/jid.2012.11","volume":"132","author":"V Pendaries","year":"2012","unstructured":"Pendaries V, et al. siRNA-mediated allele-specific inhibition of mutant type VII collagen in dominant dystrophic epidermolysis bullosa. J Investig Dermatol. 2012;132(6):1741\u20133.","journal-title":"J Investig Dermatol"},{"issue":"12","key":"561_CR69","doi-asserted-by":"publisher","first-page":"2793","DOI":"10.1038\/jid.2013.241","volume":"133","author":"CP Morgan","year":"2013","unstructured":"Morgan CP, et al. A mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa. J Investig Dermatol. 2013;133(12):2793\u20136.","journal-title":"J Investig Dermatol"},{"issue":"10","key":"561_CR70","doi-asserted-by":"publisher","first-page":"2079","DOI":"10.1038\/jid.2011.169","volume":"131","author":"SD Atkinson","year":"2011","unstructured":"Atkinson SD, et al. Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex. J Investig Dermatol. 2011;131(10):2079\u201386.","journal-title":"J Investig Dermatol"},{"key":"561_CR71","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1007\/978-1-62703-227-8_30","volume":"961","author":"JW Bauer","year":"2013","unstructured":"Bauer JW, et al. RNA trans-splicing for genodermatoses. Methods Mol Biol. 2013;961:441\u201355.","journal-title":"Methods Mol Biol"},{"issue":"2","key":"561_CR72","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1046\/j.1523-1747.2000.115002332.x","volume":"115","author":"G Dallinger","year":"2000","unstructured":"Dallinger G, et al. Collagen 17A1 gene correction using spliceosome mediated RNA trans-splicing (SMaRTtrade mark) technology. J Investig Dermatol. 2000;115(2):332.","journal-title":"J Investig Dermatol"},{"issue":"3","key":"561_CR73","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1038\/sj.jid.5701152","volume":"128","author":"V Wally","year":"2008","unstructured":"Wally V, et al. 5\u2019 trans-splicing repair of the PLEC1 gene. J Investig Dermatol. 2008;128(3):568\u201374.","journal-title":"J Investig Dermatol"},{"issue":"23","key":"561_CR74","doi-asserted-by":"publisher","first-page":"4715","DOI":"10.1093\/hmg\/ddq405","volume":"19","author":"V Wally","year":"2010","unstructured":"Wally V, et al. K14 mRNA reprogramming for dominant epidermolysis bullosa simplex. Hum Mol Genet. 2010;19(23):4715\u201325.","journal-title":"Hum Mol Genet"},{"issue":"1","key":"561_CR75","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1038\/jid.2010.249","volume":"131","author":"EM Murauer","year":"2011","unstructured":"Murauer EM, et al. Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa. J Investig Dermatol. 2011;131(1):74\u201383.","journal-title":"J Investig Dermatol"},{"key":"561_CR76","doi-asserted-by":"publisher","first-page":"e287","DOI":"10.1038\/mtna.2016.3","volume":"5","author":"P Peking","year":"2016","unstructured":"Peking P, et al. A gene gun-mediated nonviral RNA trans-splicing strategy for Col7a1 repair. Mol Ther Nucleic Acids. 2016;5:e287.","journal-title":"Mol Ther Nucleic Acids"},{"issue":"1","key":"561_CR77","doi-asserted-by":"publisher","first-page":"4","DOI":"10.1093\/bmb\/ldaa028","volume":"136","author":"EM Hong","year":"2020","unstructured":"Hong EM, Ingemarsdotter CK, Lever AML. Therapeutic applications of trans-splicing. Br Med Bull. 2020;136(1):4\u201320.","journal-title":"Br Med Bull"},{"issue":"9","key":"561_CR78","doi-asserted-by":"publisher","first-page":"2127","DOI":"10.1111\/jdv.16332","volume":"34","author":"R Mittwollen","year":"2020","unstructured":"Mittwollen R, et al. Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa. J Eur Acad Dermatol Venereol. 2020;34(9):2127\u201334.","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"9","key":"561_CR79","doi-asserted-by":"publisher","first-page":"1879","DOI":"10.1111\/jdv.16859","volume":"34","author":"DF Murrell","year":"2020","unstructured":"Murrell DF, Uitto J. Splicing of the cake can affect the severity of epidermolysis bullosa. J Eur Acad Dermatol Venereol. 2020;34(9):1879\u201380.","journal-title":"J Eur Acad Dermatol Venereol"},{"issue":"7","key":"561_CR80","doi-asserted-by":"publisher","first-page":"693","DOI":"10.1038\/nm1063","volume":"10","author":"DT Woodley","year":"2004","unstructured":"Woodley DT, et al. Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa. Nat Med. 2004;10(7):693\u20135.","journal-title":"Nat Med"},{"issue":"7","key":"561_CR81","doi-asserted-by":"publisher","first-page":"1910","DOI":"10.1038\/jid.2013.10","volume":"133","author":"DT Woodley","year":"2013","unstructured":"Woodley DT, et al. Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa. J Investig Dermatol. 2013;133(7):1910\u20133.","journal-title":"J Investig Dermatol"},{"issue":"1","key":"561_CR82","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1038\/mt.2008.234","volume":"17","author":"J Remington","year":"2009","unstructured":"Remington J, et al. Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa. Mol Ther. 2009;17(1):26\u201333.","journal-title":"Mol Ther"},{"key":"561_CR83","unstructured":"Bruckner AL, et al. Interim update from a Phase 1\/2 trial examining the safety and tolerability of PTR-01, a collagen 7 protein replacement therapy, in patients with recessive dystrophic epidermolysis bullosa. Poster presented at: Society of Pediatric Dermatology Virtual Meeting July 2020. https:\/\/phoenixtissuerepair.com\/wp-content\/uploads\/SPD_Poster_FINAL-.pdf. Accessed 5 May 2021"},{"issue":"2","key":"561_CR84","doi-asserted-by":"publisher","first-page":"e0192994","DOI":"10.1371\/journal.pone.0192994","volume":"13","author":"PC van den Akker","year":"2018","unstructured":"van den Akker PC, et al. A \u201clate-but-fitter revertant cell\u201d explains the high frequency of revertant mosaicism in epidermolysis bullosa. PLoS ONE. 2018;13(2):e0192994.","journal-title":"PLoS ONE"},{"issue":"5","key":"561_CR85","doi-asserted-by":"publisher","first-page":"1240","DOI":"10.1172\/JCI30465","volume":"117","author":"AM Pasmooij","year":"2007","unstructured":"Pasmooij AM, et al. Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3. J Clin Investig. 2007;117(5):1240\u20138.","journal-title":"J Clin Investig"},{"issue":"10","key":"561_CR86","doi-asserted-by":"publisher","first-page":"2093","DOI":"10.1016\/j.jid.2016.05.109","volume":"136","author":"S Suzuki","year":"2016","unstructured":"Suzuki S, et al. Revertant mosaicism in ichthyosis with confetti caused by a frameshift mutation in KRT1. J Invest Dermatol. 2016;136(10):2093\u20135.","journal-title":"J Invest Dermatol"},{"issue":"7","key":"561_CR87","doi-asserted-by":"publisher","first-page":"1937","DOI":"10.1038\/jid.2010.64","volume":"130","author":"N Almaani","year":"2010","unstructured":"Almaani N, et al. Revertant mosaicism in recessive dystrophic epidermolysis bullosa. J Invest Dermatol. 2010;130(7):1937\u201340.","journal-title":"J Invest Dermatol."},{"issue":"5","key":"561_CR88","doi-asserted-by":"publisher","first-page":"1374","DOI":"10.1038\/jid.2011.477","volume":"132","author":"AM Pasmooij","year":"2012","unstructured":"Pasmooij AM, et al. Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations. J Investig Dermatol. 2012;132(5):1374\u201383.","journal-title":"J Investig Dermatol"},{"issue":"1","key":"561_CR89","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1016\/j.jaad.2013.08.052","volume":"70","author":"A Gosty\u0144ski","year":"2014","unstructured":"Gosty\u0144ski A, Pasmooij AM, Jonkman MF. Successful therapeutic transplantation of revertant skin in epidermolysis bullosa. J Am Acad Dermatol. 2014;70(1):98\u2013101.","journal-title":"J Am Acad Dermatol"},{"issue":"10","key":"561_CR90","doi-asserted-by":"publisher","first-page":"2115","DOI":"10.1016\/j.jid.2019.03.1155","volume":"139","author":"W Matsumura","year":"2019","unstructured":"Matsumura W, et al. Cultured epidermal autografts from clinically revertant skin as a potential wound treatment for recessive dystrophic epidermolysis bullosa. J Investig Dermatol. 2019;139(10):2115-2124.e11.","journal-title":"J Investig Dermatol"},{"issue":"2","key":"561_CR91","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1111\/j.1365-2133.2009.09118.x","volume":"161","author":"A Gostynski","year":"2009","unstructured":"Gostynski A, et al. Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy. Br J Dermatol. 2009;161(2):444\u20137.","journal-title":"Br J Dermatol"},{"issue":"6","key":"561_CR92","doi-asserted-by":"publisher","first-page":"1247","DOI":"10.1111\/bjd.17943","volume":"181","author":"K Twaroski","year":"2019","unstructured":"Twaroski K, et al. Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2019;181(6):1247\u201353.","journal-title":"Br J Dermatol"},{"issue":"5","key":"561_CR93","doi-asserted-by":"publisher","first-page":"1021","DOI":"10.1046\/j.1523-1747.2003.12571.x","volume":"121","author":"DT Woodley","year":"2003","unstructured":"Woodley DT, et al. Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone. J Investig Dermatol. 2003;121(5):1021\u20138.","journal-title":"J Investig Dermatol"},{"issue":"5","key":"561_CR94","doi-asserted-by":"publisher","first-page":"1669","DOI":"10.1172\/JCI34292","volume":"118","author":"A Fritsch","year":"2008","unstructured":"Fritsch A, et al. A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy. J Clin Investig. 2008;118(5):1669\u201379.","journal-title":"J Clin Investig"},{"issue":"2","key":"561_CR95","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1172\/JCI200317193","volume":"111","author":"S Ortiz-Urda","year":"2003","unstructured":"Ortiz-Urda S, et al. Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue. J Clin Investig. 2003;111(2):251\u20135.","journal-title":"J Clin Investig"},{"issue":"9","key":"561_CR96","doi-asserted-by":"publisher","first-page":"2179","DOI":"10.1038\/jid.2008.78","volume":"128","author":"T Wong","year":"2008","unstructured":"Wong T, et al. Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. J Investig Dermatol. 2008;128(9):2179\u201389.","journal-title":"J Investig Dermatol"},{"issue":"8","key":"561_CR97","doi-asserted-by":"publisher","first-page":"1771","DOI":"10.1038\/jid.2011.85","volume":"131","author":"N Nagy","year":"2011","unstructured":"Nagy N, et al. HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis bullosa. J Investig Dermatol. 2011;131(8):1771\u20134.","journal-title":"J Investig Dermatol"},{"issue":"5","key":"561_CR98","doi-asserted-by":"publisher","first-page":"1025","DOI":"10.1111\/bjd.12599","volume":"169","author":"G Petrof","year":"2013","unstructured":"Petrof G, et al. Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. Br J Dermatol. 2013;169(5):1025\u201333.","journal-title":"Br J Dermatol"},{"issue":"6","key":"561_CR99","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1016\/j.jaad.2013.08.014","volume":"69","author":"SS Venugopal","year":"2013","unstructured":"Venugopal SS, et al. A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 2013;69(6):898-908.e7.","journal-title":"J Am Acad Dermatol"},{"issue":"3","key":"561_CR100","doi-asserted-by":"publisher","first-page":"429","DOI":"10.3109\/14653241003587637","volume":"12","author":"P Conget","year":"2010","unstructured":"Conget P, et al. Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa. Cytotherapy. 2010;12(3):429\u201331.","journal-title":"Cytotherapy"},{"issue":"9","key":"561_CR101","doi-asserted-by":"publisher","first-page":"2319","DOI":"10.1038\/jid.2015.158","volume":"135","author":"G Petrof","year":"2015","unstructured":"Petrof G, et al. Potential of systemic allogeneic mesenchymal stromal cell therapy for children with recessive dystrophic epidermolysis bullosa. J Investig Dermatol. 2015;135(9):2319\u201321.","journal-title":"J Investig Dermatol"},{"issue":"11","key":"561_CR102","doi-asserted-by":"publisher","first-page":"e126243","DOI":"10.1172\/jci.insight.126243","volume":"4","author":"SM Lwin","year":"2019","unstructured":"Lwin SM, et al. Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa. JCI Insight. 2019;4(11):e126243.","journal-title":"JCI Insight"},{"issue":"11","key":"561_CR103","doi-asserted-by":"publisher","first-page":"604","DOI":"10.1016\/j.molmed.2014.09.003","volume":"20","author":"VP Mauro","year":"2014","unstructured":"Mauro VP, Chappell SA. A critical analysis of codon optimization in human therapeutics. Trends Mol Med. 2014;20(11):604\u201313.","journal-title":"Trends Mol Med"},{"key":"561_CR104","unstructured":"Marinkovich MP. P123: a phase 1\/2 study of genetically corrected, collagen VII expressing autologous human dermal fibroblasts injected into the skin of patients with recessive dystrophic epidermolysis bullosa (RDEB). In: EB2020 1st world congress on epidermolysis bullosa, January 19\u201323, 2020, London, UK. Acta Derm Venereol. 2020;100(220):75."},{"key":"561_CR105","unstructured":"Roop D. OP26: state of the art IPSCs and alternative methods for delivering cells derived from gene-edited IPSCs. In: EB2020 1st world congress on epidermolysis bullosa, January 19\u201323, 2020, London, UK. Acta Derm Venereol. 2020;100(220):11."},{"issue":"10","key":"561_CR106","doi-asserted-by":"publisher","first-page":"1741","DOI":"10.1038\/mt.2014.140","volume":"22","author":"J Cogan","year":"2014","unstructured":"Cogan J, et al. Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. Mol Ther. 2014;22(10):1741\u201352.","journal-title":"Mol Ther"},{"issue":"4","key":"561_CR107","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1172\/JCI7866","volume":"104","author":"ER Barton-Davis","year":"1999","unstructured":"Barton-Davis ER, et al. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Investig. 1999;104(4):375\u201381.","journal-title":"J Clin Investig"},{"issue":"11","key":"561_CR108","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1016\/j.tig.2008.08.010","volume":"24","author":"L Linde","year":"2008","unstructured":"Linde L, Kerem B. Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet. 2008;24(11):552\u201363.","journal-title":"Trends Genet"},{"issue":"8","key":"561_CR109","doi-asserted-by":"publisher","first-page":"3028","DOI":"10.1172\/JCI92707","volume":"127","author":"DT Woodley","year":"2017","unstructured":"Woodley DT, et al. Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients. J Clin Investig. 2017;127(8):3028\u201338.","journal-title":"J Clin Investig"},{"issue":"5","key":"561_CR110","doi-asserted-by":"publisher","first-page":"1327","DOI":"10.1016\/j.ymthe.2020.03.006","volume":"28","author":"A Kwong","year":"2020","unstructured":"Kwong A, et al. Gentamicin induces laminin 332 and improves wound healing in junctional epidermolysis bullosa patients with nonsense mutations. Mol Ther. 2020;28(5):1327\u201338.","journal-title":"Mol Ther"},{"issue":"3","key":"561_CR111","doi-asserted-by":"publisher","first-page":"e82","DOI":"10.1111\/1346-8138.15230","volume":"47","author":"Y Li","year":"2020","unstructured":"Li Y, et al. Gentamicin induces COL17A1 nonsense mutation readthrough in junctional epidermolysis bullosa. J Dermatol. 2020;47(3):e82\u20133.","journal-title":"J Dermatol"},{"key":"561_CR112","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1111\/ceo.13912","volume":"49","author":"JH Hung","year":"2021","unstructured":"Hung JH, et al. Topical gentamicin ointment induces LAMB3 nonsense mutation readthrough and improves corneal erosions in a patient with junctional epidermolysis bullosa. Clin Exp Ophthalmol. 2021;49:309\u201312.","journal-title":"Clin Exp Ophthalmol"},{"issue":"4","key":"561_CR113","doi-asserted-by":"publisher","first-page":"315","DOI":"10.1159\/000499906","volume":"235","author":"J Hammersen","year":"2019","unstructured":"Hammersen J, et al. Attenuation of severe generalized junctional epidermolysis bullosa by systemic treatment with gentamicin. Dermatology. 2019;235(4):315\u201322.","journal-title":"Dermatology"},{"key":"561_CR114","unstructured":"Hao M, et al. Intravenous gentamicin therapy for epidermolysis bullosa. In: AAD 2020 virtual meeting late-breaking research. 2020. https:\/\/aad.wistia.com\/medias\/lh2wwwc7pc. Accessed 1 May 2021."},{"key":"561_CR115","doi-asserted-by":"publisher","first-page":"3692","DOI":"10.1093\/nar\/gkab194","volume":"49","author":"A Baradaran-Heravi","year":"2021","unstructured":"Baradaran-Heravi A, et al. Effect of small molecule eRF3 degraders on premature termination codon readthrough. Nucleic Acids Res. 2021;49:3692\u2013708.","journal-title":"Nucleic Acids Res"},{"issue":"9","key":"561_CR116","doi-asserted-by":"publisher","first-page":"1842","DOI":"10.1016\/j.jid.2017.05.011","volume":"137","author":"VS Atanasova","year":"2017","unstructured":"Atanasova VS, et al. Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa. J Investig Dermatol. 2017;137(9):1842\u20139.","journal-title":"J Investig Dermatol"},{"issue":"1","key":"561_CR117","doi-asserted-by":"publisher","first-page":"58","DOI":"10.1186\/1750-1172-7-58","volume":"7","author":"S Gonzalez-Hilarion","year":"2012","unstructured":"Gonzalez-Hilarion S, et al. Rescue of nonsense mutations by amlexanox in human cells. Orphanet J Rare Dis. 2012;7(1):58.","journal-title":"Orphanet J Rare Dis"},{"issue":"7","key":"561_CR118","doi-asserted-by":"publisher","first-page":"e67609","DOI":"10.1371\/journal.pone.0067609","volume":"8","author":"JW Bauer","year":"2013","unstructured":"Bauer JW, et al. Specialized yeast ribosomes: a customized tool for selective mRNA translation. PLoS ONE. 2013;8(7):e67609.","journal-title":"PLoS ONE"},{"key":"561_CR119","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000513260","volume":"34","author":"A Rathner","year":"2021","unstructured":"Rathner A, et al. Drug development for target ribosomal protein rpL35\/uL29 for repair of LAMB3R635X in rare skin disease epidermolysis bullosa. Skin Pharmacol Physiol. 2021;34:1\u201316.","journal-title":"Skin Pharmacol Physiol"},{"issue":"1","key":"561_CR120","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1186\/s13023-021-01811-7","volume":"16","author":"JY Tang","year":"2021","unstructured":"Tang JY, et al. A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa. Orphanet J Rare Dis. 2021;16(1):175.","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"561_CR121","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1007\/s40291-020-00466-7","volume":"24","author":"C Has","year":"2020","unstructured":"Has C, South A, Uitto J. Molecular therapeutics in development for epidermolysis bullosa: update 2020. Mol Diagn Ther. 2020;24(3):299\u2013309.","journal-title":"Mol Diagn Ther"},{"issue":"1","key":"561_CR122","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1186\/s13023-020-01443-3","volume":"15","author":"C Prodinger","year":"2020","unstructured":"Prodinger C, et al. Profiling trial burden and patients\u2019 attitudes to improve clinical research in epidermolysis bullosa. Orphanet J Rare Dis. 2020;15(1):182.","journal-title":"Orphanet J Rare Dis"},{"issue":"6","key":"561_CR123","doi-asserted-by":"publisher","first-page":"1238","DOI":"10.1111\/bjd.17858","volume":"181","author":"CL Ebens","year":"2019","unstructured":"Ebens CL, McGrath JA. Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts. Br J Dermatol. 2019;181(6):1238\u201346.","journal-title":"Br J Dermatol"},{"issue":"2","key":"561_CR124","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1111\/dth.12305","volume":"29","author":"M El-Darouti","year":"2016","unstructured":"El-Darouti M, et al. Treatment of dystrophic epidermolysis bullosa with bone marrow non-hematopoeitic stem cells: a randomized controlled trial. Dermatol Ther. 2016;29(2):96\u2013100.","journal-title":"Dermatol Ther"},{"issue":"2","key":"561_CR125","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1016\/j.jaad.2019.11.038","volume":"83","author":"E Rashidghamat","year":"2020","unstructured":"Rashidghamat E, et al. Phase I\/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa. J Am Acad Dermatol. 2020;83(2):447\u201354.","journal-title":"J Am Acad Dermatol"},{"key":"561_CR126","doi-asserted-by":"publisher","DOI":"10.1002\/stem.3356","author":"J Riedl","year":"2021","unstructured":"Riedl J, et al. ABCB5+ dermal mesenchymal stromal cells with favorable skin homing and local immunomodulation for recessive dystrophic epidermolysis bullosa treatment. Stem Cells. 2021. https:\/\/doi.org\/10.1002\/stem.3356.","journal-title":"Stem Cells"},{"issue":"2","key":"561_CR127","doi-asserted-by":"publisher","first-page":"e143606","DOI":"10.1172\/jci.insight.143606","volume":"6","author":"SE Lee","year":"2021","unstructured":"Lee SE, et al. Intravenous allogeneic umbilical cord blood-derived mesenchymal stem cell therapy in recessive dystrophic epidermolysis bullosa patients. JCI Insight. 2021;6(2):e143606.","journal-title":"JCI Insight"}],"container-title":["Dermatology and Therapy"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13555-021-00561-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s13555-021-00561-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s13555-021-00561-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T20:28:30Z","timestamp":1675456110000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s13555-021-00561-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,10]]},"references-count":127,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,8]]}},"alternative-id":["561"],"URL":"https:\/\/doi.org\/10.1007\/s13555-021-00561-5","relation":{},"ISSN":["2193-8210","2190-9172"],"issn-type":[{"value":"2193-8210","type":"print"},{"value":"2190-9172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,6,10]]},"assertion":[{"value":"8 April 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2021","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}