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   Articles with "dystrophic epidermolysis" as a keyword



Novel biallelic variants in COL7A1 cause recessive dystrophic epidermolysis bullosa

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recommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1347

Abstract: Abstract Background Autosomal recessive dystrophic epidermolysis bullosa (RDEB) is an incurable and severe inherited skin disorder characterized by recurrent blistering at the sublamina densa beneath the cutaneous basement membrane. It is caused by biallelic loss‐of‐function… read more here.

Keywords: variants col7a1; dystrophic epidermolysis; recessive dystrophic; epidermolysis bullosa ... See more keywords

Long-Term Safety and Tolerability of Beremagene Geperpavec-svdt (B-VEC) in an Open-Label Extension Study of Patients with Dystrophic Epidermolysis Bullosa

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recommendations! Published in 2025 at "American Journal of Clinical Dermatology"

DOI: 10.1007/s40257-025-00942-y

Abstract: Patients with dystrophic epidermolysis bullosa have pathogenic variants in COL7A1, leading to skin fragility. Beremagene geperpavec-svdt (B-VEC) is a modified, herpes simplex virus type 1-based gene therapy vector that topically delivers COL7A1 to dystrophic epidermolysis… read more here.

Keywords: dystrophic epidermolysis; treatment; epidermolysis bullosa; label extension ... See more keywords

Recessive Dystrophic Epidermolysis Bullosa and Pregnancy.

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recommendations! Published in 2019 at "Actas dermo-sifiliograficas"

DOI: 10.1016/j.ad.2017.06.024

Abstract: Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis bullosa) is characterized by the absence or considerably reduced expression of type VII collagen,… read more here.

Keywords: epidermolysis bullosa; pregnancy; dystrophic epidermolysis; recessive dystrophic ... See more keywords

A Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.

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recommendations! Published in 2019 at "Journal of the American Academy of Dermatology"

DOI: 10.1016/j.jaad.2019.11.038

Abstract: BACKGROUND Recessive dystrophic epidermolysis bullosa (RDEB) is a hereditary blistering disorder due to lack of type VII collagen (C7). At present, treatment is mainly supportive. OBJECTIVE To determine whether intravenous allogeneic bone marrow-derived mesenchymal stromal/stem… read more here.

Keywords: intravenous allogeneic; label; recessive dystrophic; dystrophic epidermolysis ... See more keywords

A scalable and cGMP-compatible autologous organotypic cell therapy for Dystrophic Epidermolysis Bullosa

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recommendations! Published in 2024 at "Nature Communications"

DOI: 10.1038/s41467-024-49400-z

Abstract: We present Dystrophic Epidermolysis Bullosa Cell Therapy (DEBCT), a scalable platform producing autologous organotypic iPS cell-derived induced skin composite (iSC) grafts for definitive treatment. Clinical-grade manufacturing integrates CRISPR-mediated genetic correction with reprogramming into one step,… read more here.

Keywords: dystrophic epidermolysis; cell; epidermolysis bullosa; cgmp compatible ... See more keywords

In vivo topical gene therapy for recessive dystrophic epidermolysis bullosa: a phase 1 and 2 trial.

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recommendations! Published in 2022 at "Nature medicine"

DOI: 10.1038/s41591-022-01737-y

Abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is a lifelong genodermatosis associated with blistering, wounding, and scarring caused by mutations in COL7A1, the gene encoding the anchoring fibril component, collagen VII (C7). Here, we evaluated beremagene geperpavec… read more here.

Keywords: rdeb; recessive dystrophic; epidermolysis bullosa; dystrophic epidermolysis ... See more keywords

Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa

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recommendations! Published in 2024 at "Scientific Reports"

DOI: 10.1038/s41598-024-67398-8

Abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disease caused by loss of function mutations in the gene coding for collagen VII (C7) due to deficient or absent C7 expression. This disrupts structural and… read more here.

Keywords: dystrophic epidermolysis; readthrough activity; recessive dystrophic; epidermolysis bullosa ... See more keywords

Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa

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recommendations! Published in 2024 at "EMBO Molecular Medicine"

DOI: 10.1038/s44321-024-00048-8

Abstract: Recessive dystrophic epidermolysis bullosa (RDEB) is a rare inherited skin disease characterized by defects in type VII collagen leading to a range of fibrotic pathologies resulting from skin fragility, aberrant wound healing, and altered dermal… read more here.

Keywords: dystrophic epidermolysis; rdeb; recessive dystrophic; epidermolysis bullosa ... See more keywords

Fibrosis as a Risk Factor for Cutaneous Squamous Cell Carcinoma in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review

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recommendations! Published in 2022 at "Journal of Pediatric Genetics"

DOI: 10.1055/s-0043-1763257

Abstract: Abstract Recessive dystrophic epidermolysis bullosa (RDEB) is a severe subtype of epidermolysis bullosa caused by changes in collagen VII with a high risk of early development of cutaneous squamous cell carcinoma (cSCC). This review aimed… read more here.

Keywords: fibrosis; epidermolysis bullosa; dystrophic epidermolysis; recessive dystrophic ... See more keywords

Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosa

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recommendations! Published in 2024 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2401781121

Abstract: Significance Recessive dystrophic epidermolysis bullosa (RDEB) is a rare and severe genetic disease caused by variants in COL7A1 encoding type VII collagen (C7). Patients develop recurrent blistering and erosions of the skin and mucosae leading… read more here.

Keywords: dystrophic epidermolysis; recessive dystrophic; epidermolysis bullosa; deep intronic ... See more keywords

Safe and Efficacious Permanent Removal of Large COL7A1 Exons for Gene Reframing as a Reliable Therapeutic Strategy for Recessive Dystrophic Epidermolysis Bullosa.

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recommendations! Published in 2025 at "Human gene therapy"

DOI: 10.1089/hum.2024.238

Abstract: Mutations leading to premature termination codons in COL7A1 are commonly associated with severe generalized recessive dystrophic epidermolysis bullosa (RDEB). Previous research, including our own, has indicated that removing mutated COL7A1 exons along with the consequent… read more here.

Keywords: dystrophic epidermolysis; recessive dystrophic; epidermolysis bullosa; col7a1 exons ... See more keywords