Epidermolysis bullosa

A Bardhan, L Bruckner-Tuderman… - Nature Reviews …, 2020 - nature.com
Epidermolysis bullosa (EB) is an inherited, heterogeneous group of rare genetic dermatoses
characterized by mucocutaneous fragility and blister formation, inducible by often minimal …

The clinical trials of mesenchymal stem cell therapy in skin diseases: an update and concise review

A Golchin, TZ Farahany, A Khojasteh… - Current stem cell …, 2019 - ingentaconnect.com
The skin is one of the crucial body organs with anatomy and physiology linked to various
disorders including congenital and acquired diseases. Nowadays, mesenchymal stem cell …

Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa

SA Hong, SE Kim, AY Lee, GH Hwang, JH Kim… - Molecular Therapy, 2022 - cell.com
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 …

CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells

J Jacków, Z Guo, C Hansen, HE Abaci… - Proceedings of the …, 2019 - National Acad Sciences
Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin disorder
caused by mutations in the COL7A1 gene encoding type VII collagen (C7). The spectrum of …

[HTML][HTML] Base editor correction of COL7A1 in recessive dystrophic epidermolysis bullosa patient-derived fibroblasts and iPSCs

MJ Osborn, GA Newby, AN McElroy, F Knipping… - Journal of Investigative …, 2020 - Elsevier
Genome editing represents a promising strategy for the therapeutic correction of COL7A1
mutations that cause recessive dystrophic epidermolysis bullosa (RDEB). DNA cleavage …

Next generation human skin constructs as advanced tools for drug development

HE Abaci, Z Guo, Y Doucet, J Jackow… - Experimental …, 2017 - journals.sagepub.com
Many diseases, as well as side effects of drugs, manifest themselves through skin
symptoms. Skin is a complex tissue that hosts various specialized cell types and performs …

[HTML][HTML] Gene therapy for epidermolysis bullosa

MP Marinkovich, JY Tang - Journal of Investigative Dermatology, 2019 - Elsevier
Epidermolysis bullosa is a family of diseases characterized by blistering and fragility of the
skin in response to mechanical trauma. Advances in our understanding of epidermolysis …

Epidermolysis bullosa: Advances in research and treatment

C Prodinger, J Reichelt, JW Bauer… - Experimental …, 2019 - Wiley Online Library
Epidermolysis bullosa (EB) is the umbrella term for a group of rare inherited skin fragility
disorders caused by mutations in at least 20 different genes. There is no cure for any of the …

[HTML][HTML] Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa

SM Lwin, F Syed, WL Di, T Kadiyirire, L Liu, A Guy… - JCI insight, 2019 - ncbi.nlm.nih.gov
BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a severe form of skin
fragility disorder due to mutations in COL7A1 encoding basement membrane type VII …

[HTML][HTML] Amlexanox enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive …

VS Atanasova, Q Jiang, M Prisco, C Gruber… - Journal of Investigative …, 2017 - Elsevier
Recessive dystrophic epidermolysis bullosa (RDEB) is a rare monogenic blistering disorder
caused by the lack of functional type VII collagen, leading to skin fragility and subsequent …