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This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.

This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

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 observed that POMP is strongly expressed in the root sheath hair follicles of Liaoning Cashmere goats and its expression can be regulated by certain factors, which may influence cashmere growth.

This study characterized the intron-exon organization of human keratin 15 and keratin 19 genes to aid future mutation detection analyses related to potential genetic disorders of keratinization.

This study found that EDA and EDAR are expressed throughout cashmere goat fetal development and play a critical role in hair follicle formation by influencing gene expression in fibroblasts and epithelial cells.

This study found that overexpressing the gene OsPRX83 in rice plants enhanced osmotic and oxidative stress tolerance compared to wild-type and mutant rice, showing potential for engineering drought-resistant rice varieties through ABA-dependent pathways and ROS scavenging.

In this study, sequences upstream of the TGM3 gene were found to regulate epithelial-specific gene expression in keratinocytes, suggesting potential applications in gene therapy.

In this study, the reconstructed skin epidermal model derived from hair follicles showed gene expression and enzyme functionality consistent with native human skin, suggesting its viability for studying skin metabolism and potential toxicity of dermo-cosmetic ingredients.

This study found thousands of differentially expressed genes and proteins that may be associated with wool growth, suggesting potential gene families involved in hair growth regulation.

This study found that elevated TSPEAR expression in colorectal cancer was associated with poor overall prognosis and correlated with tumor infiltrating immune cells, suggesting its potential as a predictive biomarker.

This research identified that the constitutive and inducible expression of the Keratin 6 gene in transgenic mice skin is controlled by multiple regulatory elements spread throughout its 5' flanking region.

This study analyzed gene expression in Pashmina goats and identified key biological processes and molecular functions involved in long-fibre production, suggesting potential pathways for enhancing this trait in other goat breeds.

This study found that PRC1 plays crucial roles in skin epithelial stem cell regulation, with catalytic and non-catalytic functions impacting epidermal integrity, hair development, and Merkel cell dynamics in murine models.

This study identifies SOX9 as a critical downstream effector of ERG in TMPRSS2:ERG fusion-positive prostate cancer, indicating its role in tumor invasion and growth.

This study found that mrp/plf-mRNA expression in murine skin increases in response to different tumor promoters, suggesting its potential as a short-term biomarker for chemical carcinogenesis.

PRDX5 enzyme may contribute to alopecia areata by affecting oxidative stress and autoimmunity.

This study investigated key genes associated with hair follicle cycle regulation and environmental adaptation in Xinjiang goats, highlighting ELOVL3's role in promoting dermal papilla cell proliferation under varying climates, potentially aiding in cashmere quality improvement and stress-resistant breeding.

This study found that EPHA4 and Ephrin A3 genes are differentially expressed during hair follicle development in fine-wool sheep, suggesting roles in follicle regeneration and density.

This case report of an infant with IPEX syndrome highlights the importance of early recognition and treatment, as the patient experienced severe symptoms and succumbed before stem cell transplantation.

This study found that TAp63 and ΔNp63 isoforms in the p63 family interact with different transcription factors to regulate distinct transcriptional programs, affecting various biological functions like metabolic pathways, oxidative stress response, and epithelial morphogenesis in mouse epidermal cells.

This study found that exposure to sex steroid biosynthesis inhibitors increases the expression of piRNA pathway genes in frog larvae, suggesting these genes play a role in gonadal sex differentiation.

This study found that mice with a mutant CDP/Cux protein lacking the homeodomain showed severely impaired growth, high postnatal mortality, and reduced fertility, highlighting CDP/Cux's role in developmental regulation.

Overexpressing the epigen gene in mice leads to enlarged sebaceous glands and greasy fur.

In this study, researchers created a mutant mouse lacking the first cut repeat in the Cux/CDP protein, resulting in curly vibrissae and wavy hair, supporting the role of Cux/CDP's DNA binding domains in gene regulation during development.

In this study, whole-genome sequencing of Lanping black-boned sheep identified ERBB4 and ROR1 genes as potentially important in their distinctive hyperpigmentation, enhancing understanding of their genetic evolution from Lanping normal sheep.

This study identified novel isoforms of the PADI2 and PADI3 proteins, showing that PADI2β inhibits oligodendrocyte differentiation, possibly by opposing the effect of canonical PADI2, while PADI3β modulates the activity of PADI3α, suggesting new regulatory mechanisms of citrullination in tissue development.

This study found that regulatory sequences crucial for inducing K6a expression in response to epidermal injury are located in specific upstream regions of the K6a gene in transgenic mice.