83 citations
,
May 2011 in “Experimental Dermatology” In this study, researchers identified nine new sheep keratin genes, highlighting species-specific differences in the expression and compartmentalization of wool-related keratin genes compared to humans.
74 citations
,
January 2020 in “Frontiers in Genetics” In this study, the researchers identified key genes with differential m6A methylation involved in cashmere fiber growth, suggesting these modifications may play a significant role in this process.
41 citations
,
July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.
36 citations
,
September 2011 in “British Journal of Dermatology” This study found that white hair exhibits increased expression of genes and proteins linked to active hair growth compared to black hair, suggesting that hair greying is associated with enhanced hair growth activity.
30 citations
,
January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
29 citations
,
October 2017 in “Journal of proteomics” This study found that specific proteins associated with fiber structure, hair growth, and fatty acid synthesis, including the DSC2 gene, may influence wool and hair characteristics in sheep and goats.
29 citations
,
July 2015 in “Journal of Medical Genetics” This study identified a new gene involved in woolly hair by linking a homozygous variant in KRT25 to autosomal recessive woolly hair in two Pakistani families.
18 citations
,
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.
17 citations
,
May 2018 in “BMC genomics” This study found that miR-432 inhibits KRT83 expression, revealing potential molecular mechanisms for the formation of curly fleece in Tan sheep and suggesting implications for understanding curly hair formation in humans.
17 citations
,
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.
16 citations
,
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
,
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
,
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.
9 citations
,
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
,
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
,
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
,
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.
7 citations
,
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
,
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
,
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
,
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
,
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
,
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
,
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
,
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.
1 citations
,
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
,
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.
December 2025 in “Frontiers in Veterinary Science” In this study, researchers explored hair follicle development in Qianhua Mutton Merino sheep, identifying key genes like KRT27 and IGF-2 that impact this process, with findings suggesting significant molecular changes as sheep mature from newborn to one year old.
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.