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This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.

This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.

This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.

This study identified a new transcriptional repressor, Zfp157, as a target of Stat6 in the mammary gland, expressing in various tissues during mouse embryogenesis and adulthood.

This study found that a mutation in the Tmprss6 gene disrupts hepcidin regulation, leading to iron deficiency and alopecia in mice, highlighting TMPRSS6's vital role in iron absorption.

This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.

This study found that the catalytically inactive serine protease CAP1/Prss8 can still induce skin disorders in mice and is subject to inhibition by nexin-1, independent of its catalytic activity.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

In this study, researchers at Johns Hopkins University found that Keratin 17 plays a signaling role in cell growth during a wound response by aiding mTOR pathway activation, beyond its structural functions.

This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.

This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.

In this study, researchers found that SIRT7 activates quiescent hair follicle stem cells to promote hair growth in mice by triggering the telogen-to-anagen cycle transition, with potential implications for age-related hair loss.

The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.

This study found that mutations in the TMPRSS6 gene affect the ability of matriptase-2 to inhibit hepcidin, which may impact the molecular pathogenesis of iron-refractory iron-deficiency anemia.

This study found that DNA methylation may regulate the differential expression of the BMP7 gene in Hu sheep lamb skin of different patterns, and it influences the proliferation and cell cycle of dermal papilla cells, with demethylation treatment increasing BMP7 expression and cell proliferation.

This study identified a human sequence likely coding for a new ultra-high sulphur protein, which may aid in understanding hair differentiation and the molecular basis of human trichothiodystrophy.

This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.

In this study, elevated mRNA levels for serine-rich ultra high sulfur proteins were observed during active hair growth phases in mice, particularly in the forming hair structures and upper skin layers.

This research reexamined transcriptomic data to study stem and progenitor cell proliferation in psoriasis, finding that the number of committed progenitor cells increased eight-fold in psoriatic skin without altering stem cell numbers, potentially identifying new therapeutic targets.

This study found that in hidradenitis suppurativa, the proteins SERPINB3/B4 and S100A7/A8/A9 were significantly overexpressed in lesional skin compared to nonlesional skin, suggesting new pathways in the disease's pathogenesis.

In this study, PKC ε transgenic mice exposed to ultraviolet radiation showed increased hair follicle stem cell frequency and altered gene expression compared to wild-type mice, suggesting a potential role in skin cancer susceptibility.

This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.

This study found that the protein p63 requires morphogenetic signals to regulate gene expression effectively during skin cell differentiation, highlighting its complex role in therapeutic reprogramming for conditions like epidermolysis bullosa.

This study found that the wavy coat trait in Nakano cataract mice is polygenic, involving major and minor genes, and resembles human curly scalp hair associated with the PRSS53 gene alteration.

This study found that the serine protease BSSP is strongly expressed in mouse skin during carcinogenesis and is upregulated independently of c-Fos and unaffected by glucocorticoids.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This study found that serine 44 in the N-terminal head domain of keratin 17 is phosphorylated in response to various stimuli affecting skin keratinocyte growth, linking K17 up-regulation with growth and stress responses in skin epithelium.

This study found that PTEN regulates the number and genomic stability of hair follicle stem cells in the skin, with its deficiency leading to increased stem cell accumulation and senescence through interactions with BMAL1 and BMI-1.