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.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
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.
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.
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.
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.
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.
28 citations
,
June 2012 in “International Journal of Molecular Medicine” This study observed that while X-ray radiation did not alter major hair keratin composition in mice, it decreased hair follicle stem cell markers and increased Krt5, suggesting potential as a radiation biomarker.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
95 citations
,
March 2009 in “Differentiation” Gene expression in wool follicles changes with growth cycles, offering insights into wool and human hair growth.
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
,
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.
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.
87 citations
,
September 2012 in “Journal of Cell Science” This review discusses the role of keratins in providing mechanical resilience to epithelial tissues and highlights recent therapeutic approaches for keratin diseases, but reports no new experimental findings.
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.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
33 citations
,
September 2017 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes woolly hair and hair loss.
27 citations
,
November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
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.
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.
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.
1 citations
,
October 2017 in “Frontiers in Physiology” This article proposes a hypothesis that KRT75, a protein found in hair follicles, was evolutionarily co-opted by ameloblasts during the development of prismatic enamel in synapsids, but reports no new results.
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.
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.
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.
June 2026 in “Communications Biology” In this study, researchers found that the cornification process in the nuptial pads of Xenopus frogs involves the expression of the type II hair keratin homolog, krt59, and is regulated by the transcription factor hoxc13, showing similarities to mammalian hair evolution.
January 2012 in “Zhongguo shouyi xuebao” In this study, significant differences in the expression of type I IRS keratin genes were observed in the groins of three sheep breeds during wool growth, related to hair follicle density.
October 2023 in “International Journal of Cosmetic Science” In this study, researchers developed WS Biotin, a new water-soluble form of biotin, and found that it significantly improves water solubility compared to free biotin and enhances hair-related keratin expression, gene activity for hair growth in vitro, while also reducing melanin content in skin cells.
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.