42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.
24 citations
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April 2017 in “Oncology Reports” In this study, full-size KRT81 was expressed in both normal breast epithelial and breast cancer cells, and contributed to the migration and invasion abilities of breast cancer cells.
15 citations
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June 2012 in “British Journal of Dermatology” This study identified a novel KRT86 mutation associated with autosomal dominant monilethrix, expanding understanding of its genetic basis beyond known motifs.
9 citations
,
February 2022 in “Nature communications” This study identified KRT82 as a significant Alopecia Areata risk gene, finding that rare damaging variants are linked to elevated immune cell infiltration around hair follicles in affected individuals.
5 citations
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March 2017 in “Gene” This study found that the transcription factor CAP1 negatively regulates KRT83 expression in Tan sheep, possibly influencing their curly hair phenotype.
4 citations
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August 2013 in “Chinese Medical Journal” This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
3 citations
,
January 2011 in “生物医学研究杂志:英文版” In this study, a novel heterozygous transition mutation in the KRT86 gene was identified, which may be pathogenic for monilethrix in a Chinese family.
2 citations
,
May 2023 in “Cancer medicine” This review reports that KRT80 is overexpressed in various cancers, enhancing cancer cell proliferation, invasiveness, and migration, suggesting it as a potential therapeutic target, though more clinical studies are needed to fully understand its role in cancer prognosis.
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.
This study found that expression and variants of the KRT84 gene are associated with important wool traits in Gansu Alpine Fine-wool sheep, suggesting its potential use as a genetic marker for wool trait selection.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that rare damaging variants in the KRT82 gene, which affect hair shaft integrity, may contribute to the risk of alopecia areata.
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.
1 citations
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August 2024 in “Animals” This study suggests that variations in α-keratin proteins influence the structure and characteristics of wool fibers, indicating that keratin genes could serve as useful markers for identifying different wool traits.
April 2024 in “Anais Brasileiros de Dermatologia” 83 citations
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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.
30 citations
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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.
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
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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
,
November 2017 in “Asian-Australasian journal of animal sciences” This study found that mutations in certain keratin genes significantly affect wool traits in Chinese Merino sheep, suggesting these genes could be important for sheep breeding to improve wool quality.
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.
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.
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.
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
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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
,
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.
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.