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This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.

This research reports that the polyG fragment within the Hoxc13 protein alters its gene regulatory functions, which could have influenced mammalian hair evolution by affecting pathways related to hair follicle development.

This study suggests that inhibiting PKC, similar to rapamycin treatment, can extend lifespan and reduce neurological symptoms and inflammation in mice with mitochondrial dysfunction, potentially involving the mTORC2 pathway.

This study found that serum apelin-13 levels were significantly higher in patients with moderate to severe psoriasis vulgaris compared to healthy controls.

This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.

This study found that specific CYP19A1 gene SNPs were significantly associated with female pattern hair loss risk in a Chinese Han population.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

This study found that keratin 17 expression is initially down-regulated and later strongly up-regulated by ionizing radiation in a rat model, with p53 repressing early transcription.

This study found that overexpression and knockdown of DKK4 influence genes involved in hair follicle growth and development in Angora rabbits and identified specific SNPs in DKK4 associated with wool quality, notably showing that the TT/GG haplotype combination relates to higher fibre diameters.

This study reported that UVR induced PKCε phosphorylation of Stat3 in transgenic mice, suggesting a role in enhancing sensitivity to UVR-related skin cancer development.

Hoxc13 is important for hair and tongue development by controlling hair keratin genes.

Martin-Perez et al. show that rapamycin's beneficial effects in a mouse model of Leigh syndrome are linked to the downregulation of protein kinase C.

This study identified two novel genes, pmg-1 and pmg-2, expressed in various skin and gland tissues and potentially involved in the differentiation of epithelial cells in epidermal appendages.

This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.

This study identified and characterized a gene called 4C32, which is expressed in the periderm of embryonic mouse skin and has a structure similar to keratin-associated proteins.

This study showed that knocking out the Ppp2ca gene in the epidermis of mice led to significant hair loss and disrupted hair follicle morphogenesis and regeneration.

This study found that higher expression of the Hoxc13 gene in specific areas of hair follicles is associated with longer wool length in Gansu alpine fine-wool sheep.

In this study, Akt2 and the oncogenic protein Tcl1 were found to be essential for early blastomere proliferation and embryo development in preimplantation mouse embryos.

This study found that bisindolylmaleimide PKC inhibitors increased DNA synthesis in mouse hair follicles, suggesting that PKC may inhibit hair follicle proliferation.

This article describes a method using the CUBIC protocol to clarify and visualize molecular and cellular interactions in mouse skin biopsies at single cell resolution, but does not provide new biological findings.

This study found that inhibiting the PI3Kδ enzyme in murine models of cutaneous chronic graft-versus-host disease (cGVHD) reduced skin scores and fibrosis, prevented pathogenic lymphoid structures, and improved survival, suggesting it as a promising therapeutic approach to address the disease's hypoxic pathophysiology.

This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.

This study found that cupric chloride treatment may partially correct delayed maturation and abnormal arborization of Purkinje cells in the cerebellum of hemizygous brindled mice, a model for Kinky hair disease.

This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.

In this study, researchers found that inhibiting IKKα in patient-derived CCS tumour models reduces tumour viability, supporting the potential for topical IKKα inhibitors as a treatment for CCS.

ZPK helps skin cells mature and may affect skin health.

This study shows that NIPP1 deficiency in mouse epidermis leads to hyperproliferation, hair loss, and chronic skin inflammation, which can be partially alleviated by dexamethasone treatment.

This study suggests that BTP levels in cerebrospinal fluid might help diagnose CIDP and predict therapy response but require validation in larger cohorts.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.