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This study found that strontium ranelate may promote cartilage regeneration by enhancing chondrogenic differentiation and inhibiting the Wnt/β-catenin signaling pathway in rat models of cartilage defects.

This study suggests that in human osteoblast-like cells, the 5alpha-reductase type 1 isozyme predominantly catalyzes the conversion of testosterone to DHT, which may play a role in bone homeostasis.

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.

In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.

This review discusses the role of 5α-reductase in prostate development and BPH, and reports no new clinical results; ongoing trials are exploring dual isozyme inhibitors for improved treatment efficacy.

In this study, Swedish men carrying the AR haplotype H2 were found to have a significantly lower risk of prostate cancer compared to those with the more common H1 variant.

This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.

In this case report, a four-year-old girl was diagnosed with vitamin D-dependent rickets type II, manifesting as diffuse alopecia, frontal bossing, hypoplastic teeth, and skin-colored papules, due to a genetic mutation causing resistance to 1.25-dihydroxy vitamin D.

This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.

This study found that stem cells derived from spinal and bulbar muscular atrophy patients exhibited reduced androgen receptor levels and HDAC6, providing potential insights into the disease mechanism for future therapies.

This study developed a novel monoclonal antibody, TYHF-1, which specifically reacts with hair keratins but not with epidermal keratins or various other tissue cells.

This study found that prepubertal Hispanic girls with idiopathic premature adrenarche did not show differences in 5 alpha-reductase or 11 beta-hydroxysteroid dehydrogenase activities compared to controls.

This study found that novel compound heterozygous mutations in the desmoplakin gene lead to hair shaft abnormalities and can result in lethal cardiomyopathy.

Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.

This study identified and characterized a murine type II hair keratin, demonstrating its presence in specific cells of hair and tongue tissues.

This case study reports that a heterozygous missense GJA1 mutation, p.Gly138Ser, in a 2-year-old boy with oculodentodigital syndrome primarily resulted in syndactyly, fifth finger hypoplasia, and hypotrichosis, without neurological or craniofacial abnormalities.

This report presents a rare case of suspected 3β HSD deficiency in an adult female with symptoms like male pattern hair loss and low testosterone, suggesting a non-classical presentation.

This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

This study identified a novel human type I hair keratin, hHa3-II, as an isoform of a previously described hHa3 keratin, with distinct sequence differences indicating separate gene encoding.

In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.

This study demonstrated that methylation of the 5-alpha reductase type 2 (5-AR2) promoter is linked to reduced expression of the 5-AR2 protein, possibly explaining resistance to Finasteride in some BPH patients.

This study found mutations in the P2RY5 gene that are linked to autosomal recessive woolly hair in Pakistani families, implicating it in hair texture determination.

This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.

This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.