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This study identified three new mutations in the VDR ligand-binding domain that may cause dysfunction, and noted that oral calcium and calcidol treatment was effective, but only one patient experienced hair growth.

This study identified a mutation in the steroid-binding domain of the androgen receptor gene associated with complete androgen insensitivity syndrome, impairing male sexual development due to altered androgen receptor protein function.

This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.

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 study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.

This study identifies novel genetic variants in the NOTCH3 and HTRA1 genes associated with CADASIL and CARASIL, highlighting their potential in supporting clinical diagnosis and informing treatment strategies.

This review discusses the structure, expression, regulation, and potential functions of the nuclear receptor coactivator NcoA4 in cancerous and non-cancerous pathologies, but reports no new results.

In this study, mutations in the vitamin D receptor were identified in Brazilian children with rickets and alopecia, leading to impaired receptor activation and reduced 24-hydroxylase expression.

This review summarizes the proposed model that describes how different shapes of 1alpha,25(OH)2D3 ligands interact with the vitamin D receptor to mediate genomic and rapid responses in cells.

This case report describes a 16-year-old liver transplant patient with previous chicken pox infection experiencing disseminated varicella zoster virus infection with pneumonia, highlighting the importance of early acyclovir treatment in immunocompromised patients.

This study observed that patients with acne vulgaris had significantly lower serum vaspin levels and higher insulin resistance, suggesting a potential role of vaspin in the disease's pathogenesis.

The study reports that the AVET system showed higher efficiency in transfecting cultured human keratinocytes compared to SuperFect and PrimeFector, with AVET reaching levels of enzyme activity similar to normal cells in keratinocytes from lamellar ichthyosis patients.

This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.

This study assessed the physical and mental health-related quality of life in patients undergoing either open surgical repair or endovascular aneurysm repair for abdominal aortic aneurysm using the SF-36 tool.

This case report describes a middle-aged woman whose scalp condition, cutis verticis gyrata, was an early sign of systemic amyloidosis that went undiagnosed until after she experienced a stroke.

In this study, the ACE1 rs1799752 polymorphism was not found to predispose COVID-19 survivors to long-COVID symptoms, supporting previous findings that ACE2 and TMPRSS2 variants also do not influence post-COVID conditions.

In this study, researchers found that the AIRE G961C variant is a significant risk factor for severe alopecia areata and early-onset cases, particularly in patients with alopecia universalis.

This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.

This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.

This study found that the protein C4BPA may link insulin resistance and acne vulgaris by influencing lipid metabolism and inflammatory pathways, suggesting it as a potential mediator in the pathogenesis of both conditions.

This case report identified two new SLC39A4 mutations in twin patients with acrodermatitis enteropathica, suggesting that different mutations in this gene may lead to varying clinical manifestations of the disorder.

This report describes a unique case of hereditary vitamin D-resistant rickets (HVDRR) in a dog, caused by a VDR gene mutation resulting in severe hypocalcemia and bone issues, which presented with symptoms similar to those observed in humans.

This study found that specific polymorphisms in the VDR gene, Taq1, and Cdx1, were significantly associated with increased risk of chronic telogen effluvium in women.

This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.

In this study, ALRV5XR treatment significantly increased terminal hair density in men with androgenetic alopecia after 24 weeks, while also decreasing vellus hair density, and was well tolerated without adverse events, suggesting its potential efficacy over standard therapies.

This study found that the vitamin D-VDR system is crucial for mineral and bone metabolism post-weaning and identified missense mutations in 1alpha-hydroxylase causing type I rickets.

Acyclovir can prevent rejection of skin grafts in herpes-related lip leucoderma.

In this study, the researchers cloned and analyzed the CRABP I gene in Inner Mongolian cashmere goats, finding its highest mRNA expression at 90 days in embryo skin compared to later stages.

This article reports a case of a 14-month-old child with a constriction ring syndrome caused by tightly wrapped hair, highlighting the importance of early recognition and treatment to prevent serious complications.