2014
DOI: 10.1126/scitranslmed.3010083
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Abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in the gene encoding type VII collagen, resulting in fragile skin and mucous membranes that blister easily in response to mechanical stress. Induced pluripotent stem cells (iPSCs) carry the potential to fundamentally change cell-based therapies for human diseases, in particular for RDEB, for which no effective treatments are available. To provide proof of principle on the applicability of iPSCs for the treatment of RDEB, we developed iPSC… Show more

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Cited by 55 publications
(44 citation statements)
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“…This is because keratinocytes do not directly bind C7 as an adhesive ligand but rather bind with C7 indirectly, through their interaction with laminin 332 (Chen et al, 1999;Rousselle et al, 1997). These studies point to the need for new methods to increase stem cell delivery to the skin, such as the use of induced pluripotent stem cells (Sebastiano et al, 2014;Tolar et al, 2014;Wenzel et al, 2014).…”
Section: Gene Therapy For Rdebmentioning
confidence: 99%
“…This is because keratinocytes do not directly bind C7 as an adhesive ligand but rather bind with C7 indirectly, through their interaction with laminin 332 (Chen et al, 1999;Rousselle et al, 1997). These studies point to the need for new methods to increase stem cell delivery to the skin, such as the use of induced pluripotent stem cells (Sebastiano et al, 2014;Tolar et al, 2014;Wenzel et al, 2014).…”
Section: Gene Therapy For Rdebmentioning
confidence: 99%
“…the seven types of Ehlers-Danlos syndrome 3,4 or dystrophic and acquired forms of epidermolysis bullosa targeting collagen VII. 5,6 Hormonal imbalance (e.g. in Cushing disease, postmenopausal syndrome or locally, during long-term glucocorticoid therapy) may lead to the appearance of skin tears and premature skin ageing, 7,8 whereas other forms of skin fragility may be due to dietary or metabolic causes (e.g.…”
Section: From Pathology To Clinical Classification Of Fragile Skinmentioning
confidence: 99%
“…Gene editing using the CrispR/Cas technology has shown promise in correcting COL7A1 mutations in RDEB keratinocytes (12) and RDEB fibroblasts (13) in vitro and at a preclinical level. Further research strategies encompass approaches with gene-corrected iPS cells (14)(15)(16)(17). A newly introduced technology employs a non-integrating, replication-incompetent herpes simplex virus 1 (HSV-1) vector expressing human collagen VII (www.krystalbio.com).…”
Section: Gene Therapiesmentioning
confidence: 99%