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The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.

This review discusses the role of Ysc84/SH3yl1 proteins in linking actin regulation to membrane morphology changes but reports no new experimental results.

This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.

This study found that Mdm2 is critical for limiting p53 activity to maintain normal stem cell function in mouse skin, with impacts on tissue homeostasis and aging.

This study found that two microRNAs, oar-miR-23b and oar-miR-133, inhibit the development of hair follicles in superfine wool sheep by targeting genes involved in key signaling pathways, suggesting their potential use as molecular markers for breeding fine wool sheep.

This study found that the CD301b-expressing subpopulation of macrophages plays a crucial role in promoting reparative processes during the mid-stage of skin wound healing in a mouse model.

Recognizing minor skin lesions can help identify serious cancer syndromes.

This study found that the gene SRD5A1, associated with methylation changes due to early-life environment, may play a role in altering reproductive phenotypes in women by delaying pubertal onset and decreasing ovarian reserve.

In this study, researchers observed that a noncanonical mechanism involving the γ-secretase-dependent, RBPj-independent Notch intracellular domain improves survival in Msx2-Cre mice by delaying hair follicle destruction and reducing disease severity.

This study found that TRM21 acts as a positive regulator of flavonoid biosynthesis at the translational level in Arabidopsis, leading to changes in root hair growth and a decrease in flavonoid content when TRM21 is mutated.

Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.

In this study, researchers found that Gab1 is critical in controlling the hair cycle and the self-renewal of hair follicle stem cells in mice.

This case report of a four-year-old girl with Nicolaides-Baraitser syndrome highlights severe atopic dermatitis and worsening alopecia, suggesting that SMARCA2 dysfunction may impact skin barrier integrity and hair health, necessitating aggressive dermatologic treatment.

This study found that intracrine androgen signaling via 5α-reductase is essential for optimal endometrial decidualization and vascular development during this process in mice.

This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.

This study found that Dock5 plays a crucial role in keratinocyte function and wound healing, with its expression reduced in diabetic models but improving healing when restored.

This study found that ACOD1 deficiency in dermal papilla cells promotes mitochondrial dysfunction and contributes to cellular senescence in androgenetic alopecia, suggesting ACOD1 as a potential therapeutic target and 4-octyl itaconate as a promising treatment option for AGA.

This study concluded that label-retaining cells in mouse epidermis differ in their sensitivity to proliferative stimuli, influencing their division and potential transdifferentiation without consistently depleting their population.

This study found that miR-148a plays a significant role in regulating skin homeostasis and hair follicle cycling, influencing stem cell activity and development in mice.

This study found that miR-150 enhances the resolution ability of endothelial progenitor cells in venous thrombosis by promoting cell differentiation and proliferation through specific gene regulation pathways.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

This study identified increased expression of ACAA1 and its regulation by hsa-miR-1343-3p, linking androgenetic alopecia to lipid metabolism pathways, particularly through PPAR signaling, in scalp tissues.

This study established that the Dct::CreERT2 mouse line is effective for targeting and studying adult melanocyte stem cells, contributing to the understanding of melanocyte biology and hair pigmentation.

This study reports that CD200R expression is significantly reduced in a mouse model of scarring alopecia, suggesting a potential role for this pathway in immune regulation and hair follicle protection.

This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.

This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.

This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.

In this study, deletion of ROBO4 in mice ameliorated hair loss caused by elevated PAF levels, suggesting potential interplay with VLDLR-related pathways.

This study demonstrated that murine monoclonal antibodies can reveal specific patterns of desmosomal cadherin expression, Dsc1 and Dsc3, in human tissues and cultured cells using immunofluorescence microscopy.