September 2019 in “Journal of Investigative Dermatology” This study found that using human induced pluripotent stem cells (iPSC) carrying the causal mutation of Epidermolysis Bullosa simplex provides a robust model for understanding its molecular mechanisms and testing potential therapeutic targets.
44 citations
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January 2017 in “Journal of Investigative Dermatology” This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.
April 2017 in “Journal of Investigative Dermatology” This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.
3 citations
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July 2024 in “Frontiers in Medicine” This study reports that analyzing the clinical manifestations of different genetic variants in EBS families helps predict disease progression and severity, guide complication risk assessment, and plan necessary medical care.
August 2022 in “Tissue Engineering Part A” This study observed that using ex vivo gene therapy to modify skin cells in a pre-graft model improved dermal-epidermal junction adhesion strength and maintained collagen production over time, suggesting a potential treatment approach for recessive dystrophic epidermolysis bullosa skin wounds.
