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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 found that VDAC2 promotes apoptosis in secondary hair follicle stem cells of Albas cashmere goats by activating the P53 signaling pathway, with knockdown of VDAC2 reducing apoptosis and a P53 inhibitor partially rescuing VDAC2-induced apoptosis.

This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.

This article reviews extensive genetic polymorphisms in the keratin-associated proteins of human hair, indicating complexity but reporting no new clinical results and calls for further research on their potential impact on hair structure.

In this study, water-soluble recombinant keratins, specifically RK81, were developed and used in microneedles to investigate their effect on hair growth, discovering that more than 40% of the hair follicles responded, demonstrating the potential for hair growth promotion.

This study found two recurrent missense mutations in the hHb6 gene associated with monilethrix in families from Russia and Colombia, supporting their role in this hair disorder worldwide.

In this study, the researchers successfully cloned and sequenced the hairless gene cDNA of Kunming mice, revealing high conservation and functional significance among various mammalian species.

This report describes siblings with vitamin D-dependent rickets type 2, characterized by growth retardation, alopecia totalis, and low 25(OH)D3 levels, highlighting its autosomal recessive pattern and distinction from other rickets types.

This study reports a case of fatal HHV-6 encephalitis and vasculitis in a previously healthy 49-year-old male, highlighting the occurrence of this condition even in individuals without typical risk factors, such as immunocompromised status.

This study found that the SVpgC2a keratinocyte cell line, used as a model for dysplastic epithelium, showed increased apoptosis, proliferation, and aberrant keratin expression compared to normal keratinocytes from buccal mucosa.

In this study, two novel clusters of keratin-associated protein genes on human chromosome 11 were analyzed, suggesting their products are crucial for hair formation due to preferential expression in hair roots.

This study found that ketoconazole-loaded solid lipid nanoparticles significantly improved skin permeation and retention compared to a drug suspension and marketed product, demonstrating enhanced delivery into deeper skin layers.

In this study, keratin‐based hydrogels incorporating calcium ions were developed to effectively deliver atorvastatin, showing potential for localized anti‐fibrotic therapy through controlled drug release and maintaining drug bioactivity in vitro, supported by thorough physicochemical and mechanical characterization.

This study revealed that human keratin-associated protein genes are expressed in specific patterns in hair fiber regions and vary in size, with some variations distinct across different populations.

This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.

This study examined human hair follicles exposed to different artificial media and found that Dimephosphone solution better preserved the potassium-sodium ion balance, suggesting its potential advantage for short-term graft storage compared to standard saline, which caused significant potassium "washout.

Ruxolitinib may help treat hair loss and symptoms in patients with chronic graft-versus-host disease.

This study demonstrated that VD3 significantly enhanced the proliferation and differentiation of epidermal stem cells in a murine skin defect model, leading to improved wound healing, potentially through activation of the PI3K signaling pathway.

In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.

This research highlights the potential of non-coding RNAs as biomarkers and therapeutic targets in dermatology, while experimental studies on a unique GVM case suggest CCM2L may modulate disease severity, advancing understanding of genetic mechanisms in rare skin disorders.

This case report on a 17-year-old with Vogt-Koyanagi-Harada syndrome found that while steroid treatments improved vision during uveitis episodes, recurring ocular issues led to significant long-term visual impairment.

This study found that treating hair with aqueous KCN converts disulfide bonds to monosulfide crosslinks, affecting the elasticity and crosslink distribution in hair microstructures.

KAP8.1 protein is crucial for hair structure and interacts with keratin 85.

This study observed wide clinical diversity among five patients with the same VDR gene mutation causing vitamin D-dependent rickets type II, suggesting involvement of a nuclear accessory factor and a nongenomic action of the vitamin.

This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.

This study found that DermaCult™ Keratinocyte Expansion Medium allows for significantly extended growth of human epidermal keratinocytes while maintaining their differentiation potential.

This article reviews the importance of quality control and quality assurance in hair transplant practice and emphasizes their potential to improve procedural outcomes, yet it reports no new clinical data.