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   Articles with "rdeb" as a keyword



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

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

SG05 (P074) Milestone events in recessive dystrophic epidermolysis bullosa: findings from a prospective register study

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recommendations! Published in 2024 at "British Journal of Dermatology"

DOI: 10.1093/bjd/ljae090.387

Abstract: All forms of the genetic skin fragility disorder recessive dystrophic epidermolysis bullosa (RDEB) are characterized by mucocutaneous blistering healing with scarring, although subtype severity, distribution and associated features correlate to the underlying collagen VII genotype.… read more here.

Keywords: rdeb; rdeb inv; history; rdeb rdeb ... See more keywords
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Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing.

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recommendations! Published in 2021 at "Experimental dermatology"

DOI: 10.1111/exd.14481

Abstract: Chronic wounds present a major disease burden in people with recessive dystrophic epidermolysis bullosa (RDEB), an inherited blistering skin disorder caused by mutations in COL7A1 encoding type VII collagen, the major component of anchoring fibrils… read more here.

Keywords: wound healing; recessive dystrophic; rdeb; dystrophic epidermolysis ... See more keywords

T‐cell activation and bacterial infection in skin wounds of recessive dystrophic epidermolysis bullosa patients

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recommendations! Published in 2022 at "Experimental Dermatology"

DOI: 10.1111/exd.14615

Abstract: Recessive dystrophic epidermolysis bullosa (RDEB) patients develop poorly healing skin wounds that are frequently colonized with microbiota. Because T cells play an important role in clearing such pathogens, we aimed to define the status of… read more here.

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

Pain in recessive dystrophic epidermolysis bullosa (RDEB): findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study (PEBLES)

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recommendations! Published in 2024 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-024-03349-w

Abstract: Pain is common in the genetic skin fragility disorder epidermolysis bullosa (EB), from skin and mucosal injury and inflammation as well as extra-mucocutaneous sites. Individuals living with EB have identified pain as a priority for… read more here.

Keywords: rdeb; epidermolysis bullosa; pain; longitudinal evaluation ... See more keywords

Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand.

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recommendations! Published in 2018 at "Acta dermato-venereologica"

DOI: 10.2340/00015555-2781

Abstract: We investigate the epidemiology and outcomes of squamous cell carcinoma (SCC) in recessive dystrophic epidermolysis bullosa (RDEB) from the Australasian EB registry cohort. Seventeen out of 49 (34.6%) RDEB patients developed at least one SCC.… read more here.

Keywords: rdeb; cell carcinoma; squamous cell; scc ... See more keywords

Immune Disregulation in Cutaneous Squamous Cell Carcinoma of Patients with Recessive Dystrophic Epidermolysis Bullosa: A Single Pilot Study

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recommendations! Published in 2022 at "Life"

DOI: 10.3390/life12020213

Abstract: Background: Cutaneous squamous cell carcinoma (cSCC) is one of the most devastating complications of recessive dystrophic epidermolysis bullosa (RDEB). We recently demonstrated a reduction in immune cell peritumoral infiltration in RDEB patients with cSCC, together… read more here.

Keywords: cell; rdeb patients; cscc; squamous cell ... See more keywords