Skin basement membrane: the foundation of epidermal integrity—BM functions and diverse roles of bridging molecules nidogen and perlecan

D Breitkreutz, I Koxholt, K Thiemann… - BioMed research …, 2013 - Wiley Online Library
The epidermis functions in skin as first defense line or barrier against environmental
impacts, resting on extracellular matrix (ECM) of the dermis underneath. Both compartments …

Basement membrane collagens and disease mechanisms

A Gatseva, YY Sin, G Brezzo… - Essays in …, 2019 - portlandpress.com
Basement membranes (BMs) are specialised extracellular matrix (ECM) structures and
collagens are a key component required for BM function. While collagen IV is the major BM …

Innovations in the treatment of dystrophic epidermolysis bullosa (DEB): current landscape and prospects

PC Hou, N Del Agua, SM Lwin, CK Hsu… - … and Clinical Risk …, 2023 - Taylor & Francis
Dystrophic epidermolysis bullosa (DEB) is one of the major types of EB, a rare hereditary
group of trauma-induced blistering skin disorders. DEB is caused by inherited pathogenic …

Targeting RNA splicing for disease therapy

MA Havens, DM Duelli… - Wiley Interdisciplinary …, 2013 - Wiley Online Library
Splicing of pre‐messenger RNA into mature messenger RNA is an essential step for the
expression of most genes in higher eukaryotes. Defects in this process typically affect …

Investigational treatments for epidermolysis bullosa

PC Hou, HT Wang, S Abhee, WT Tu… - American Journal of …, 2021 - Springer
Epidermolysis bullosa (EB) is a heterogeneous group of rare inherited blistering skin
disorders characterized by skin fragility following minor trauma, usually present since birth …

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa

E Rashidghamat, JA McGrath - Intractable & Rare Diseases …, 2017 - jstage.jst.go.jp
Epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of inherited
blistering diseases that affects~ 500,000 people worldwide. Clinically, individuals with EB …

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 …

COL7A1 editing via CRISPR/Cas9 in recessive dystrophic epidermolysis bullosa

S Hainzl, P Peking, T Kocher, EM Murauer, F Larcher… - Molecular Therapy, 2017 - cell.com
Designer nucleases allow specific and precise genomic modifications and represent
versatile molecular tools for the correction of disease-associated mutations. In this study, we …

Dystrophic epidermolysis bullosa: a review

S Shinkuma - Clinical, cosmetic and investigational dermatology, 2015 - Taylor & Francis
Dystrophic epidermolysis bullosa is a rare inherited blistering disorder caused by mutations
in the COL7A1 gene encoding type VII collagen. The deficiency and/or dysfunction of type …

[HTML][HTML] Efficient gene reframing therapy for recessive dystrophic epidermolysis bullosa with CRISPR/Cas9

S Takashima, S Shinkuma, Y Fujita, T Nomura… - Journal of Investigative …, 2019 - Elsevier
The clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 system
induces site-specific double-strand breaks, which stimulate cellular DNA repair through …