17 citations
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February 2015 in “Experimental Dermatology” This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
17 citations
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March 2012 in “Journal of biological chemistry/The Journal of biological chemistry” In this study, researchers found that overexpression of the hairless protein in Hr mutant mice disrupts inner root sheath formation by downregulating Dlx3 and associated keratins in hair follicle development.
16 citations
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November 2022 in “eLife” This study found that specific genetic changes in both coding and noncoding regions may have independently driven the evolution of hairlessness in various mammalian species through accelerated evolution.
9 citations
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November 2022 in “Biology” This study identified key genes and pathways related to wool follicle development in coarse wool lambs, suggesting epigenetic factors may influence wool sheep domestication and breeding.
9 citations
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May 2021 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” This study suggests that topical minoxidil may be a promising treatment for isolated autosomal recessive woolly hair due to LIPH mutations, although effective treatments are not yet established.
7 citations
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May 2025 in “Journal of Biomedical Science” This study found that KRT6A expression increases after epidermal barrier disruption, worsening skin inflammation in disease conditions, and suggests that targeting KRT6A could offer a new treatment approach for inflammatory skin diseases linked to epidermal dysfunction.
7 citations
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August 2020 in “Genes” This study mapped gene expression in different skin structures of dogs, finding similarities to humans that support using dogs as models for human skin diseases.
4 citations
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June 2021 in “Dermatology” This study validated the HS 3D-SeboSkin model as a reliable tool for preclinical research, effectively preserving the structure and biomarker expression of lesional and perilesional HS skin ex vivo.
4 citations
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April 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study developed a mouse model lacking keratin 16 to replicate palmoplantar lesions, which may help uncover the molecular mechanisms driving these lesions in pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma.
4 citations
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January 2009 in “PubMed” In this study, researchers identified an autosomal dominant mutation (E402K) in exon 7 of the KRT86 gene as a cause of Monilethrix in a large family from Turkey.
2 citations
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November 2022 in “Skin research and technology” This study found that the p.E402K mutation in the KRT86 gene is a hotspot in Chinese patients with monilethrix, and treatment with 5% topical minoxidil significantly improved hair density and quality.
2 citations
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March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers used an evolutionary-rate-based method to identify genetic elements associated with reduced hair in mammals, finding a dichotomy between accelerated coding sequences and noncoding regulatory elements influencing hair growth.
1 citations
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January 2015 in “China Animal Husbandry & Veterinary Medicine” This study identified four keratin genes associated with hair follicle development that were expressed more highly in super fine wool Xinji sheep compared to fine wool sheep.
1 citations
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January 2012 in “International journal of trichology” This study found that keratinocytes derived from the germinative epithelium of ovine hair follicles have extensive in vitro growth potential, challenging the idea that these cells are solely transit-amplifying.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
November 2025 in “Journal of Investigative Dermatology” Hair follicle stem cells help maintain skin health after injury.
November 2025 in “BMC Genomics” This study identified genetic differences between Australian White Sheep and Hu Sheep that may explain their distinct pelage types, with a focus on subcutaneous adiposity and immunoregulation. The findings suggest potential targets for breeding climate-resilient sheep, enhancing our understanding of heat tolerance in these breeds.
This study found significant differences in cashmere fiber diameters between two groups of cashmere goats and identified 211 genes and 50 metabolites related to hair follicle growth and cellular functions, suggesting potential pathways to improve cashmere quality.
February 2025 in “BMC Veterinary Research” This study examined proteomic changes in Inner Mongolia cashmere goat skin, finding 631 proteins differentially regulated during hair growth stages; key keratin proteins, crucial for hair follicle development, were localized in secondary hair follicles.
November 2024 in “Biochemical and Biophysical Research Communications” In this study, researchers observed that mutant mice with a genetic hair loss condition exhibited significant differential expression of genes related to keratinization and hair follicle formation, providing insights into potential strategies for understanding and treating alopecia.
July 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers observed that spontaneously mutated mice with a hair loss phenotype exhibited significant differential expression of genes related to keratinization and hair follicle formation, suggesting these mice could model human alopecia for future research and treatment development.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, the ablation of Tet2/Tet3 genes in mouse skin epithelial cells led to altered hair shape and length, highlighting their role in regulating hair follicle gene expression and chromatin structure.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that conditional deletion of CD271 in mouse epidermis led to significant disorganization and increased thickness, suggesting CD271's crucial role in regulating skin differentiation and structure.
September 2022 in “JAAD case reports” This case study of a 45-year-old man from Tonga describes the identification of pachyonychia congenita through genetic testing, revealing a mutation in the keratin gene KRT16, associated with chronic painful skin and nail conditions.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrated that Tet2 and Tet3 enzymes are crucial for controlling gene expression related to hair differentiation in mice, suggesting DNA demethylation could be a new method for managing hair growth.
This study identified genetic regions evolving at different rates in hairless mammals, suggesting that specific genomic changes may contribute to the evolution of hairlessness across various species.
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.
September 2016 in “Journal of dermatological science” This study found that adult dermal papilla cells guided high-passage adult keratinocytes to produce new hair fibers, suggesting potential for large-scale hair follicle bioengineering.
October 2022 in “International Journal of Molecular Sciences” This study found that collagen peptides from Mozambique tilapia significantly promoted hair regrowth and increased the proliferation of hair growth factors in vitro and in vivo, suggesting potential as supplements for hair loss prevention.
September 2022 in “Research Square (Research Square)” This study found that a specific gene mutation was identified in a family with monilethrix, and treatment with 5% minoxidil liniment improved hair quality in the proband without adverse events.