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5 lip 2023 · Recent breakthroughs in gene therapy continue to transform the landscape of therapies for epidermolysis bullosa (EB), offering encouraging outcomes for patients suffering from this severe blistering skin disease.
2 sie 2024 · Epidermolysis bullosa (EB) comprises rare genetic disorders characterized by skin and mucosal membrane blistering induced by mechanical trauma. Molecularly, pathogenic variants affect genes encoding proteins crucial for epidermal–dermal adhesion and stability.
23 kwi 2020 · Epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by fragility of the skin and mucosal membranes. The molecular basis involves pathogenic variants in genes encoding structural proteins of the dermal–epidermal junction zone (DEJZ) [1].
2 mar 2024 · Epidermolysis bullosa (EB) is a rare genetic dermatosis characterized by skin fragility and blister formation. With a wide phenotypic spectrum and potential extracutaneous manifestations, EB poses significant morbidity and mortality risks.
The causative gene mutations of most EB types are known. The current international consensus classification contains four main types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome (KS). The classification is based on the morphological level of blister formation.
14 gru 2022 · A new trial of gene therapy for dystrophic epidermolysis bullosa is notable for its context: the treatment of a skin disorder through topical application. This article describes the science...
7 lut 2024 · CRISPR/Cas9-based targeted genome editing for correction of recessive dystrophic epidermolysis bullosa using iPS cells
