Modeling Epidermolysis Bullosa Simplex With Cardiomyopathy Using KLHL24-Mutant Pluripotent Stem Cells

This study identified that dominant mutations in the KLHL24 gene cause epidermolysis bullosa through dysregulated autoubiquitination, leading to excessive degradation of keratin 14.

This study constructed a comprehensive atlas of prenatal human skin, revealing that innate immune cells, such as macrophages, play a crucial role in skin morphogenesis by interacting with non-immune cells, influencing hair follicle formation and angiogenesis beyond their traditional immune functions.

This study reported that human induced pluripotent stem cell-derived skin organoids, used to model epidermolysis bullosa, have an epidermal-dermal junction largely lacking type VII collagen, which is important for skin structure.

This report details a case of dystrophic epidermolysis bullosa in a 37-year-old male with a recessive mutation in the CLO7A1 gene, affecting type VII collagen.

This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.