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
,
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.
3 citations
,
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.
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.
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
,
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
,
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.
4 citations
,
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.
2 citations
,
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.
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
,
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
,
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.
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.
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.
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
,
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.
95 citations
,
March 2009 in “Differentiation” Gene expression in wool follicles changes with growth cycles, offering insights into wool and human hair growth.
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.
49 citations
,
November 2013 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that 1,25-dihydroxyvitamin D3/VDR inhibits β-catenin's role in keratinocyte proliferation but enhances its role in hair follicle differentiation.
30 citations
,
June 2022 in “Animals” This study found that certain genes were significantly associated with hair length in Inner Mongolia cashmere goats, potentially serving as molecular markers for different hair types.
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.
26 citations
,
April 2019 in “Genes” In this study, researchers identified novel long non-coding RNAs related to cashmere fineness in goats, highlighting a potential regulatory network involving lncRNA XLOC_008679 and its target gene KRT35.