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Repurposing diacerein for the treatment of chronic wounds in recessive-dystrophic epidermolysis bullosa patients by modulating matrix metalloproteinase-9 expression.
J Dermatol
January 2025
Department of Dermatology and Allergology, EB House Austria, Research Program for Molecular Therapy of Genodermatoses, University Hospital of the Paracelsus Medical University Salzburg, Salzburg, Austria.
Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in COL7A1, leading to loss or dysfunction of type-VII collagen (C7), a protein essential for skin stability. Clinically, patients suffer from severe skin blistering, chronic or recurrent wounds, and scarring, which predispose to early onset of aggressive squamous cell carcinoma. Previous studies showed that RDEB-keratinocytes (RDEB-KC) express high levels of matrix-metalloproteinase 9 (MMP-9), a molecule known to play a crucial role in wound chronification if dysregulated.
View Article and Find Full Text PDFGuanidyl-rich highly branched poly(β-amino ester)s for the delivery of dual CRISPR ribonucleoprotein for efficient large DNA fragment deletion.
J Control Release
January 2025
Charles Institute of Dermatology, School of Medicine, University College Dublin, Dublin, Ireland. Electronic address:
Gene editing technologies, particularly clustered regularly interspersed short palindromic repeats (CRISPR) and CRISPR-associated (Cas) proteins, have revolutionized the ability to modify gene sequences in living cells for therapeutic purposes. Delivery of CRISPR/Cas ribonucleoprotein (RNP) is preferred over its DNA and RNA formats in terms of gene editing effectiveness and low risk of off-target events. However, the intracellular delivery of RNP poses significant challenges and necessitates the development of non-viral vectors.
View Article and Find Full Text PDFLived experiences of patients with epidermolysis bullosa: A rare genetic skin disease.
Health SA
December 2024
Department of Clinical Psychology, Faculty of Health Sciences, Greys Hospital, Pietermaritzburg, South Africa.
Background: Epidermolysis bullosa (EB) is a rare genodermatosis that results in extreme skin fragility, for which there is no cure and may be fatal. The quality of life of patients affected may be greatly impacted.
Aim: This study aims to understand the lived experiences of patients with EB.
Long-term safety and efficacy of Oleogel-S10 (birch bark extract) in epidermolysis bullosa: 24-month results from the Phase III EASE Study.
Br J Dermatol
January 2025
The School of Translational Medicine, Monash University and Alfred Health, Melbourne VIC, Australia.
Background: Epidermolysis bullosa (EB) is a group of rare, severe, genetic disorders characterised by persistent skin fragility and open wounds. EB manifests as cutaneous and mucosal blistering, erosions and impaired wound healing.
Objectives: To determine the long-term efficacy, tolerability and safety of Oleogel-S10 (birch bark extract) in dystrophic (DEB) and junctional (JEB) EB in the 24-months open-label phase (OLP) of the EASE study.
Colchicine as a treatment option for inherited epidermolysis bullosa.
Clin Exp Dermatol
January 2025
Department of Dermatology, St George Hospital, Sydney, NSW, Australia.
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