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This chapter reviews the recent understanding of carbonic anhydrase VI's functions, including its role in biological processes, but presents no new experimental results.

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 study found that the vitamin D receptor in lampreys, which lack bones and hair, binds 1,25-dihydroxyvitamin D3 and may function to induce enzymes for detoxifying substances.

This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.

This study reports that Abelson Interactor 1 (ABI1) regulates androgen receptor transcription in prostate cancer, identifying it as a potential target for new therapies addressing treatment resistance.

In this study, a specific SNP in the A2M gene of Murrah buffaloes was significantly associated with increased fat production and higher fat and protein percentages in milk.

In this study, the disruption of Gh/tissue transglutaminase in mice did not affect viability but reduced thymocyte viability and fibroblast adhesion, suggesting its role in cell stabilization and extracellular matrix interactions.

This study identified and sequenced several keratin cDNA clones showing distinct expression patterns in mouse epithelia, with in situ hybridization highlighting differences in keratin distribution between normal and hyperproliferative tissues.

This study found that mice lacking the 1αOHase enzyme, which is responsible for producing a key vitamin D metabolite, showed impaired epidermal differentiation and delayed recovery of skin barrier function after disruption.

This study identified a novel homozygous EDNRA variant linked to Oro-Oto-Cardiac Syndrome and showed that EDNRA signaling is essential for normal craniofacial and cardiovascular development.

This study found that a newly produced version of KGF-1 with 135 residues maintained biological activity and could serve as an alternative to the standard 140-residue KGF-1.

Collagen XVIII is crucial for maintaining tissue structure and function in the brain, kidneys, and hair.

This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.

This study determined that the human steroid 5α-reductase enzymes localize to the endoplasmic reticulum in HeLa cells, with protein tagging affecting expression and inducing protein aggregates for some isoforms.

This review discusses the biochemical properties and clinical significance of 5 alpha-reductase isozymes and reports no new clinical results.

This chapter discusses androgen receptors and protein synthesis in the prostate, reporting that DHT-dependent receptor protein translocation increases protein-synthesizing activity after androgen injection in rat models.

This study found that 2MbisP increases epidermal thickening more rapidly than atRA in rhino mice, while both compounds similarly reduce utricle size.

This study found that cPPARγ and dnPPARγ isoforms are differentially expressed in healthy human skin, suggesting that PPARγ modulators may have compartment-specific effects depending on isoform presence.

hHb1, hHb3, and hHb6 mRNAs start expressing at the same time in hair follicles.

The researchers concluded that blocking α1-integrin altered adhesion and enhanced migration in adult fibroblasts, suggesting its potential as a target for therapies aimed at reducing fibrosis.

This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.

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 study suggests that the residues Val-889 and Arg-752 in the androgen receptor steroid binding domain are crucial for the intermolecular interaction necessary for receptor dimerization and function.

This study found that arginine vasotocin is evolutionarily conserved across diverse taxa and may play roles in neuroendocrine, immune, and stress signaling, with potential antimicrobial applications.

This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.

The researchers reported that introduction of SOX9 in ischemic heart tissues is linked to cardiac fibrosis, marking it as a potential target for future therapeutic strategies.

This study found that c-Jun is essential for vitamin D receptor expression, and the vitamin D receptor inhibits c-Jun-dependent cell death through non-classical mechanisms independent of vitamin D3.

In this study, a genetic analysis identified a pathogenic variant in the ALOXE3 gene associated with non-bullous congenital ichthyosiform erythroderma, and the patient's response to antifungal treatment highlights the risk of cutaneous fungal infections.

This study found that in rodent models, the ability of D1 dopamine receptor activation to impair sensory gating is facilitated by 5α-reductase type 1, which produces allopregnanolone.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.