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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.

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 study used histopathological and ultrastructural analyses to differentiate between junctional epidermolysis bullosa and dermatomyositis-like disease in two juvenile dogs with skin disorders.

This study found that epidermolysis bullosa simplex keratinocytes had impaired mitochondrial activity and more dispersed mitochondrial distribution compared to normal human keratinocytes.

This study found that loss of integrin-β4 or its ligand, laminin-α3β3ɣ2, in keratinocytes increases differentiation via delamination, and demonstrated a role for hemidesmosomes in epidermal differentiation through both mitotic and non-mitotic mechanisms, influenced by Notch signaling.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

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.

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.

This study found that the distribution of desmogleins is associated with specific types of keratinization and hair anchorage, as well as hypotrichosis.

This correspondence describes two patients with both epidermolysis bullosa simplex, Dowling-Meara type, and loose anagen hair syndrome, an association not previously reported in the literature.

This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.

This study reports that inhibition of Wnt/β-catenin signaling disrupts hemidesmosome organization in keratinocytes by altering the localization of components like plectin and collagen XVII.

A specific gene mutation causes sparse, brittle hair in a family.

This review explores epidermolysis bullosa simplex subtypes caused by mutations in KRT5 or KRT14 and summarizes gene expression patterns and molecular mechanisms, without presenting new experimental results.

This study found that overexpressing Dsg3 in the suprabasal epidermis of transgenic mice resulted in flaking skin and abnormal hair growth, supporting Dsg3's role in regulating epidermal differentiation.

This study provides genetic evidence that desmoglein-1 can compensate for the loss of desmoglein-3 in hair adhesion, supporting the desmoglein compensation hypothesis.

This study found that fatty acid desaturation regulated by SCD1 is crucial for hair growth by maintaining hair follicle stem cell niches, with its absence causing abnormal hair growth in mice.

This study demonstrated that hiPSC-derived hair-bearing skin organoids lacked sufficient type VII collagen at the epidermal-dermal junction, indicating a need for further maturation to model certain forms of epidermolysis bullosa effectively.

KLHL24-mutant stem cells help understand skin and heart disease.

In this study, UVB irradiation increased mast cell degranulation only when skin was innervated, suggesting that the interaction between mast cells and nerve fibres may exacerbate solar elastosis by promoting dysfunctional dermal elastic fiber accumulation, but further research is needed for confirmation.

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.

This study found that knocking out vinculin in mouse skin disrupts bulge stem cell quiescence by impairing force generation and mechanical stability of adherens junctions.

Tissue-engineered skin substitutes can model junctional epidermolysis bullosa and may help develop gene therapy.

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

This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.

This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.

This study demonstrates that human epidermal stem cells can adapt to environmental temperature changes through mTOR signaling, and prolonged inhibition of mTORC1 supports stem cell maintenance, which may be vital for regenerative medicine.

This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.