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This study found that SZ95 sebocytes and HaCaT keratinocytes exhibit distinct enzyme expressions and activities, implicating their different roles in androgen metabolism and homeostasis in vitro.

This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

This study developed a new method to analyze Cantú syndrome mutations in KATP channels, finding that while Kir6.1 mutations increase sensitivity to potassium channel openers, SUR2B mutations show reduced sensitivity, but both result in marked hyperpolarization compared to wild-type channels under basal conditions.

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.

This study used whole-genome sequence data to identify numerous putative causal variants and genes affecting key wool traits and skin wrinkle in Merino sheep, highlighting their polygenic and pleiotropic nature.

This study found that SK2 channels in sensory terminals of rat muscle spindles and hair follicles may play a crucial role in modulating mechanosensory transduction by influencing receptor potentials through Ca2+-activated K+ currents.

This study found that CTHRC1 is crucial for sweat gland function and vascular network integrity in mice, and its administration improved sweat gland performance by reconstructing nearby blood vessels.

This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.

This study identified a high-risk allele in the PLCD1 gene associated with hereditary trichilemmal cyst formation, proposing a monoallelic two-hit mechanism as the underlying genetic pathogenesis.

This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.

This study found that overexpression of the intercellular adhesion protein Necl2 in hair follicle stem cells was associated with reduced cell proliferation and delayed wound healing in both cultured cells and transgenic mice.

This commentary discusses the crucial role of the alternative splicing factor Esrp1 in maintaining skin barrier function and its association with skin diseases like atopic dermatitis and psoriasis, but reports no new clinical results.

In this study, molecular docking simulations and cell-based assays suggested that certain analogues of cepharanthine might possess anti-SARS-CoV-2 activity.

In this study, Sept4 knockout mice showed improved wound healing and hair follicle regeneration compared to wild-type controls, suggesting potential therapeutic uses for SEPT4 inhibition.

The Celsr1 gene is crucial for normal hair patterning in mice.

This study reports that the nuclear receptor co-repressor 1 (NCoR1) inhibits cardiac hypertrophy by stabilizing the MEF2 and class II HDACs complex, potentially offering a target for new therapies.

This review discusses the evidence for using oral medications to treat central serous chorioretinopathy, highlighting eplerenone as having the most support despite a lack of robust efficacy across studies.

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 study presents the crystal structure of human SRD5A2 with finasteride and reveals insights into its enzyme catalysis and inhibition mechanisms, which may inform drug development.

This study identified a 195 bp duplication in crested chickens that causes large crest feathers and can be associated with cerebral hernia in some breeds, but not all.

This study found that low temperatures and nitrogen deficiency trigger root hair elongation through a molecular mechanism involving the receptor kinase FERONIA and the TOR Complex 1.

This study found that HERC6 and its neighboring genes play a significant role in the cellular response of human skin to CO2 laser therapy, highlighting key biological processes related to gene expression changes post-treatment.

This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.

This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.

This study demonstrated that CEP may effectively treat pulmonary fibrosis by inhibiting fibroblast activation through regulating macrophage M2 polarization and decreasing fibrosis-associated factors, suggesting a new avenue for future research in this area.

In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.

In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.