September 2016 in “Journal of Dermatological Science” This study found that epidermal-specific deletion of aPKCλ in mice disrupted hair follicle stem cell quiescence and regeneration, leading to abnormal hair cycling and skin changes.
14 citations
,
August 2014 in “The FASEB Journal” 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.
7 citations
,
July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the mutant hairless rhino bald protein in mice interacts with the vitamin D receptor but cannot repress its transactivation and shows abnormal cellular localization.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
7 citations
,
December 2015 in “International Journal of Dermatology” In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.
41 citations
,
December 2011 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reported that deleting the MED1 subunit from the MED complex in keratinocytes resulted in disrupted hair differentiation and cycling, leading to hair loss in mice.
114 citations
,
May 2001 in “Development” This study found that overexpressing the Hoxc13 gene in mice causes hair loss and a skin condition similar to ichthyosis, identifying several gene targets that may regulate hair growth.
32 citations
,
November 1998 in “Journal of Biological Chemistry” This study found that the unique functions of keratin 16 are likely determined by its tail domain, challenging the previous hypothesis about the role of the helix 1B subdomain.
26 citations
,
January 2011 in “Open Journal of Genetics” In this study, researchers identified five unique sequences of the ovine KAP13-3 gene, with potential implications for wool traits due to observed amino acid changes.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
6 citations
,
June 2016 in “Journal of cellular biochemistry” 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.
133 citations
,
June 1993 in “Molecular and Cellular Biology” This study found that a truncated region of the K5 promoter directs expression in stratified epithelia, particularly in epidermis, hair follicles, and tongue, potentially involving specific keratinocyte nuclear proteins in regulation.
94 citations
,
October 1994 in “The Journal of Cell Biology” This study demonstrates that overexpression of K16 in transgenic mice disrupts normal keratinization, leading to hyperkeratosis, acanthosis, and alterations in the skin's epithelial cells.
79 citations
,
June 1993 in “Molecular and Cellular Biology” This study found that as few as 90 base pairs of the K5 promoter directed keratinocyte-preferred expression in stratified epithelia, especially in epidermis, hair follicles, and tongue, showing cell type specificity.
12 citations
,
December 2013 in “Immunological Investigations” This study suggests that the 5’UTR SNP rs6457452 of HSPA1B may be associated with the onset of Alopecia Areata and reduced susceptibility in the Korean population.
3 citations
,
January 2015 in “Sen i Gakkaishi” This study reported that keratin films lacking keratin-associated proteins showed different appearance, structure, and color deposit properties compared to conventional keratin films, suggesting potential for evaluating hair damage.
122 citations
,
June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
January 2011 in “Anhui nongye kexue” This study reports that the recombinant expression vector pcDNA3.1-KK demonstrates specific expression in the skin of newborn mice.
271 citations
,
March 1999 in “Developmental biology” This study reveals that overexpression of Wnt3 in transgenic mouse skin leads to a short-hair phenotype and cyclical balding due to structural defects in hair shafts, highlighting a role for WNT signaling in hair growth regulation.
139 citations
,
February 2014 in “Journal of Advanced Research” This review explores the impact of vitamin D deficiency on the skin from a dermatological perspective, but reports no new clinical results.
44 citations
,
September 2019 in “The EMBO Journal” This study found that lymphatic vessels in mice are important for hair follicle development and organization, as their depletion blocks hair growth.
18 citations
,
June 2012 in “Archives of Dermatological Research” This study found that treatment with vitamin D increased the expression of LL-37 through the vitamin D receptor in cultured sebocytes.
17 citations
,
October 2017 in “Scientific reports” This study found that Super Merino sheep have a higher wool follicle density, finer fleece, and distinct gene expression compared to Small Tail Han sheep, which may inform future breeding and genetic interventions.
14 citations
,
January 2008 in “Dermatology” This review discusses the role of vitamin D metabolism in skin immunity and wound healing but does not present new results, highlighting the need for further research into its therapeutic applications.
10 citations
,
March 2022 in “Communications biology” In this study, researchers found that non-invasive analysis of skin surface lipid RNAs revealed alterations in gene expression patterns associated with atopic dermatitis, suggesting its potential for understanding skin disease pathophysiology.
7 citations
,
March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
2 citations
,
January 2019 in “Medizinische Genetik” Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.
April 2024 in “Nepal journal of dermatology, venereology & leprology” This review highlights that vitamin D is increasingly recognized for its roles in skin health, including treatment of psoriasis, potential applications in conditions like atopic dermatitis, and possible prevention of skin malignancies, as observed in various studies linking low levels to autoimmune skin diseases.
Vitamin D is crucial for skin health and managing skin diseases.