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 …

Delivery systems of current biologicals for the treatment of chronic cutaneous wounds and severe burns

M Xue, R Zhao, H Lin, C Jackson - Advanced drug delivery reviews, 2018 - Elsevier
While wound therapy remains a clinical challenge in current medical practice, much effort
has focused on developing biological therapeutic approaches. This paper presents a …

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 …

Cut and paste: efficient homology-directed repair of a dominant negative KRT14 mutation via CRISPR/Cas9 nickases

T Kocher, P Peking, A Klausegger, EM Murauer… - Molecular Therapy, 2017 - cell.com
With the ability to induce rapid and efficient repair of disease-causing mutations,
CRISPR/Cas9 technology is ideally suited for gene therapy approaches for recessively and …

Current knowledge of immunomodulation strategies for chronic skin wound repair

P Heydari, M Kharaziha, J Varshosaz… - … Research Part B …, 2022 - Wiley Online Library
In orchestrating the wound healing process, the immune system plays a critical role. Hence,
controlling the immune system to repair skin defects is an attractive approach. The highly …

Stem cells, niches and scaffolds: applications to burns and wound care

SM Watt, JM Pleat - Advanced drug delivery reviews, 2018 - Elsevier
The importance of skin to survival, and the devastating physical and psychological
consequences of scarring following reparative healing of extensive or difficult to heal human …

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa

J Bischof, OP March, B Liemberger, SA Haas, S Hainzl… - Molecular Therapy, 2022 - cell.com
Junctional epidermolysis bullosa (JEB) is a debilitating hereditary skin disorder caused by
mutations in genes encoding laminin-332, type XVII collagen (C17), and integrin-α6β4 …

[HTML][HTML] Predictable CRISPR/Cas9-mediated COL7A1 reframing for dystrophic epidermolysis bullosa

T Kocher, OP March, J Bischof, B Liemberger… - Journal of Investigative …, 2020 - Elsevier
End-joining‒based gene editing is frequently used for efficient reframing and knockout of
target genes. However, the associated random, unpredictable, and often heterogeneous …

Challenges in treating genodermatoses: new therapies at the horizon

MA Morren, E Legius, F Giuliano… - Frontiers in …, 2022 - frontiersin.org
Genodermatoses are rare inherited skin diseases that frequently affect other organs. They
often have marked effects on wellbeing and may cause early death. Progress in molecular …

Context-dependent strategies for enhanced genome editing of genodermatoses

OP March, T Kocher, U Koller - Cells, 2020 - mdpi.com
The skin provides direct protection to the human body from assault by the harsh external
environment. The crucial function of this organ is significantly disrupted in genodermatoses …