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.
189 citations
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July 2009 in “The Journal of clinical investigation/The journal of clinical investigation” This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.
26 citations
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June 2004 in “Clinical Genetics” This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
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.