December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
October 2021 in “Research Square (Research Square)” This study found that gene expression patterns can effectively distinguish the cashmere growth cycle stages and highlight molecular pathways, suggesting melatonin's role in regulating cashmere growth in Inner Mongolian goats.
June 2021 in “Research Square (Research Square)” This study reports that melatonin influences gene expression related to cashmere growth cycles in Inner Mongolian cashmere goats, potentially aiding in understanding and enhancing cashmere yield through molecular regulation.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that genetic ablation of Tet genes in mice led to changes in hair structure and keratin gene expression, indicating a role for Tet-mediated 5hmC DNA oxidation in hair follicle development and cycling.
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that hair-type tissues in hedgehogs show higher enrichment of immune-related genes compared to spine-type tissues, suggesting that spines evolved to protect against injuries and infections.
May 2020 in “Research Square (Research Square)” This study used cashmere goats to reveal distinct intermediate states of dermal papilla cells, each with specific roles in hair growth, shedding, and regeneration.
This Ph.D. project aims to evaluate the self-assembling potential of hair keratin extracts and study the cellular response to both crude and purified keratins, highlighting their potential applications from biomedical to water remediation.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” This source reports findings from a case study detailing hair loss in two female patients, published in the JDDG: Journal der Deutschen Dermatologischen Gesellschaft, emphasizing that specific diagnostic outcomes or treatment results are not included in the summary.
April 2019 in “Journal of Investigative Dermatology” In this study, researchers found that canonical Wnt/β-catenin signaling and Wnt-ligand expression are distinctly regulated during wound healing across different cell populations and immunity conditions, particularly under type 2 immunity.
April 2019 in “Journal of Investigative Dermatology” This study found that activating the Sonic hedgehog pathway in scarring wounds can redirect wound repair to favor hair follicle regeneration instead of fibrosis.
April 2019 in “Journal of Investigative Dermatology” In this pilot study, combined platelet-rich plasma therapies showed potential benefits for improving skin elasticity and vascular network density in morphea patients, but the small sample size limits definitive conclusions.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
April 2018 in “D-Scholarship@Pitt (University of Pittsburgh)” This study found that keratin-75, discovered in enamel tissue, is secreted by ameloblasts using an unconventional pathway involving the ER-Golgi-Intermediate-Compartment and Golgi, differing from typical cytokeratin localization.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel mechanism by which dsRNA-induced TLR3 activation and retinoic acid pathways contribute to new hair follicle formation after deep wounds in mice and suggested a similar potential in humans.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that topical bortezomib increased cell proliferation in hair follicles and sebaceous glands in mice and may activate hair keratin gene expression through GATA-3 transcription factors.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The researchers reported that disrupting the RPGRIP1L gene in mice impaired desmosome function, causing skin blistering, and their findings suggest that PKCβII inhibition could help treat pemphigus.
April 2016 in “Journal of Investigative Dermatology” This study provides a comprehensive platform to explore stem cell interactions regulating hair follicle growth, revealing key signaling pathways in epithelial-mesenchymal interactions using advanced RNA sequencing and transgenic reporters.
April 2016 in “Journal of Investigative Dermatology” This study found that gypenosides from Gynostemma pentaphyllum increased procollagen synthesis in vitro and reduced periorbital wrinkles by about 14% in a clinical trial with 24 women.
April 2016 in “Journal of Investigative Dermatology” This study suggests that lithocholic acid may enhance hair regeneration in alopecia by activating vitamin D receptors in human dermal papilla cells.
This study reported that high cholesterol levels were linked to increased prostate cancer risk, while selenium supplementation affected gene expression, suggesting nutritional and clinical factors might influence prostate cancer risk and biology.
February 2010 in “ePrints Soton (University of Southampton)” This research found that androgen bioactivity plays a role in normal female sexual differentiation, suggesting females develop within a significant androgenic environment, with implications for understanding conditions like congenital adrenal hyperplasia.
February 2020 in “Definitions” This abstract reviews the role of the human KRT 16 wild-type allele in skin and hair development and its association with certain genetic skin disorders, without presenting new findings.
18 citations
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January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
2 citations
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May 2024 in “BMC Genomics” This study analyzed the genetics of the patchiness phenotype in New Zealand rabbits and found that the gene KRT82, with identified SNPs in its promoter, may serve as a potential biomarker for breeding these rabbits.
4 citations
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May 2024 in “Genes” Among Merino × Southdown cross sheep, this study found that certain variants of the KRT81 gene were associated with differences in fleece weight, but not with staple length or fibre diameter traits.
13 citations
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November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
In this study, researchers identified the c.296C>T (p.T99I) variant in the KRT32 gene, which co-segregates with loose anagen hair syndrome, and found it decreases binding affinity to KRT82, potentially weakening hair anchorage.