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.
15 citations
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May 2014 in “Journal of Biological Chemistry” In this study, targeting the expression of a keratin KRT5/KRT8 chimeric cDNA in keratin-deficient mice partially restored structural defects in epidermal cells, but did not fully normalize skin health.
11 citations
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September 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a missense mutation in the keratin 71 gene as the cause of autosomal dominant woolly hair/hypotrichosis in a Japanese family, marking the first human mutation in KRT71 linked to a hair disorder.
7 citations
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December 2021 in “In Vivo” In this study, researchers found that hTERT/SV40 immortalization of human dermal fibroblasts up-regulates skin cell markers and highlights the SIRT1 and miR-93 pathways' roles in maintaining fibroblast proliferation, potentially benefiting developments in the cosmetic industry.
7 citations
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September 2017 in “Scientific Reports” This study found that overexpression of sPLA2-IIA in homozygous mice resulted in cyclic alopecia, a halt in hair follicle cycling, and impaired wound healing due to complete loss of hair follicle stem cells.
6 citations
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January 2022 in “Gene” This study identified 53 keratins in the yak genome, predicting diverse phosphorylation sites and subcellular localizations, and highlighted strong gene expression correlations during the yak hair follicle development cycle.
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.
3 citations
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January 2023 in “Science advances” This study found that ablation of Tet2/Tet3 genes in skin epithelial cells altered hair shape and length, leading to hair loss, by affecting chromatin accessibility and gene expression related to hair follicle regulation.
2 citations
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November 2024 in “PeerJ” This study identified a wide range of differentially expressed lncRNAs and mRNAs in the hair follicles of Hetian sheep, which may be useful for further research on improving carpet wool quality.
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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September 2022 in “Frontiers in genetics” This study found that cashmere has a significantly smaller mean fiber diameter compared to sheep and goat wool, and identified key proteins that may influence this difference.
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.
2 citations
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September 2017 in “Biotechniques/BioTechniques” This study developed a stable cell line model to evaluate hair differentiation activity, offering a new tool for screening drugs that promote hair growth using mouse iPS cell-derived systems.
1 citations
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December 2025 in “Scientific Reports” In this study, researchers developed a predictive model for the onset of alopecia areata by analyzing six datasets to identify key feature genes and employing various machine learning algorithms, ultimately finding the XGBoost model most effective for clinical application.
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.
May 2026 in “Frontiers in Pharmacology” In this study, DOP treatment improved hair regrowth in androgenetic alopecia by altering local steroid metabolism and follicular morphology.
February 2026 in “bonndoc (University of Bonn)” This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.
October 2025 in “Frontiers in Veterinary Science” This study found that the finer fibers of Alpas cashmere, compared to ordinary cashmere, are associated with the down-regulation of specific keratins and keratin-associated proteins, suggesting a molecular target for breeding cashmere goats with improved fiber quality.
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.
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.
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.
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.
This study reported that genome sequencing and analysis of mink hair keratin genes reveal the amino acid composition of key proteins and offer insights into fur biosynthesis, potentially aiding conservation efforts through transgenic animal design to produce mink fur and help save endangered mink species.
November 2023 in “Advanced Science” A specific hair protein variant increases the spread of breast cancer and is linked to worse survival rates.
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.
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.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers created a comprehensive transcriptome map of human hair follicle compartments, identifying compartment-specific genes and providing a resource for potential therapeutic interventions.
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.
January 2020 in “Columbia Academic Commons (Columbia University)” This study utilized targeted genomic sequencing and whole exome sequencing to identify novel common and rare genetic variants in Alopecia Areata, revealing potential mechanisms contributing to disease susceptibility.