dystrophic epidermolysis bullosa
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Hong, Sung-Ah | - |
dc.contributor.author | Kim, Song-Ee | - |
dc.contributor.author | Lee, A-Young | - |
dc.contributor.author | Hwang, Gue-Ho | - |
dc.contributor.author | Kim, Jong Hoon | - |
dc.contributor.author | Iwata, Hiroaki | - |
dc.contributor.author | Kim, Soo-Chan | - |
dc.contributor.author | Bae, Sangsu | - |
dc.contributor.author | Lee, Sang Eun | - |
dc.date.accessioned | 2022-10-25T07:44:09Z | - |
dc.date.available | 2022-10-25T07:44:09Z | - |
dc.date.created | 2022-10-06 | - |
dc.date.issued | 2022-08 | - |
dc.identifier.issn | 1525-0016 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/hanyang/handle/2021.sw.hanyang/172588 | - |
dc.description.abstract | Recessive dystrophic epidermolysis bullosa (RDEB) is a severe skin fragility disorder caused by loss-of-function mutations in the COL7A1 gene, which encodes type VII collagen (C7), a protein that functions in skin adherence. From 36 Korean RDEB patients, we identified a total of 69 pathogenic mutations (40 variants without recurrence), including point mutations (72.5%) and insertion/deletion mutations (27.5%). For fibroblasts from two patients (Pat1 and Pat2), we applied adenine base editors (ABEs) to correct the pathogenic mutation of COL7A1 or to bypass a premature stop codon in Pat1-derived primary fibroblasts. To expand the targeting scope, we also utilized prime editors (PEs) to correct the COL7A1 mutations in Pat1- and Pat2-derived fibroblasts. Ultimately, we found that transfer of edited patient-derived skin equivalents (i.e., RDEB keratinocytes and PE-corrected RDEB fibroblasts from the RDEB patient) into the skin of immunodeficient mice led to C7 deposition and anchoring fibril formation within the dermal-epidermal junction, suggesting that base editing and prime editing could be feasible strategies for ex vivo gene editing to treat RDEB. | - |
dc.language | 영어 | - |
dc.language.iso | en | - |
dc.publisher | CELL PRESS | - |
dc.title | dystrophic epidermolysis bullosa | - |
dc.type | Article | - |
dc.contributor.affiliatedAuthor | Bae, Sangsu | - |
dc.identifier.doi | 10.1016/j.ymthe.2022.06.005 | - |
dc.identifier.scopusid | 2-s2.0-85132865274 | - |
dc.identifier.wosid | 000842995100005 | - |
dc.identifier.bibliographicCitation | MOLECULAR THERAPY, v.30, no.8, pp.2664 - 2679 | - |
dc.relation.isPartOf | MOLECULAR THERAPY | - |
dc.citation.title | MOLECULAR THERAPY | - |
dc.citation.volume | 30 | - |
dc.citation.number | 8 | - |
dc.citation.startPage | 2664 | - |
dc.citation.endPage | 2679 | - |
dc.type.rims | ART | - |
dc.type.docType | Article | - |
dc.description.journalClass | 1 | - |
dc.description.isOpenAccess | Y | - |
dc.description.journalRegisteredClass | scie | - |
dc.description.journalRegisteredClass | scopus | - |
dc.relation.journalResearchArea | Biotechnology & Applied Microbiology | - |
dc.relation.journalResearchArea | Genetics & Heredity | - |
dc.relation.journalResearchArea | Research & Experimental Medicine | - |
dc.relation.journalWebOfScienceCategory | Biotechnology & Applied Microbiology | - |
dc.relation.journalWebOfScienceCategory | Genetics & Heredity | - |
dc.relation.journalWebOfScienceCategory | Medicine, Research & Experimental | - |
dc.subject.keywordPlus | FIBROBLAST CELL THERAPY | - |
dc.subject.keywordPlus | VII COLLAGEN | - |
dc.subject.keywordPlus | GENE-THERAPY | - |
dc.subject.keywordPlus | GENOMIC DNA | - |
dc.subject.keywordPlus | BONE-MARROW | - |
dc.subject.keywordPlus | BASE | - |
dc.subject.keywordPlus | SKIN | - |
dc.subject.keywordPlus | CRISPR/CAS9 | - |
dc.subject.keywordPlus | INTEGRATION | - |
dc.subject.keywordPlus | OUTCOMES | - |
dc.subject.keywordAuthor | base editing | - |
dc.subject.keywordAuthor | COL7A1 | - |
dc.subject.keywordAuthor | CRISPR | - |
dc.subject.keywordAuthor | genome editing | - |
dc.subject.keywordAuthor | prime editing | - |
dc.subject.keywordAuthor | recessive dystrophic epidermolysis bullosa | - |
dc.subject.keywordAuthor | type VII collagen | - |
dc.identifier.url | https://linkinghub.elsevier.com/retrieve/pii/S1525001622003653 | - |
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