10 citations
,
January 2003 in “Dermatology” This study describes a Japanese family with monilethrix and found no clear genotype/phenotype correlation in cases with the E413K mutation in hHb6.
September 2023 in “Journal of the American Academy of Dermatology”
54 citations
,
January 2013 in “Journal of Biological Macromolecules” This study proposes a new method to selectively isolate keratin-associated proteins and keratin from human hair, suggesting that KAPs may support keratin fibers in hair structure.
9 citations
,
February 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the complexity and genetic organization of human keratin gene clusters and addresses the ongoing need for an updated unified naming system; it reports no new clinical results.
11 citations
,
November 2011 in “The Journal of Dermatology” This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.
117 citations
,
August 1999 in “Nature Genetics” 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.
January 2002 in “Proceedings of The Japanese Society of Animal Models for Human Diseases” In this study, researchers observed distinct morphological differences in hair follicles of mutant mouse genotypes, influenced by the expression levels of keratin2-6g, which is essential for proper hair follicle development.
1 citations
,
April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
18 citations
,
June 2017 in “Proceedings of the National Academy of Sciences of the United States of America” In this mouse study, hair growth defects associated with the Gk5 null allele were partially alleviated by simvastatin treatment, suggesting GK5 plays a key role in skin-specific cholesterol regulation.
7 citations
,
March 2022 in “Frontiers in Genetics” This study identified genetic loci and pathways associated with long hair growth in the Tianzhu white yak, providing new insights into the genetic mechanisms of this trait.
3 citations
,
March 2019 in “European Journal of Dermatology” A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.
39 citations
,
January 2019 in “Journal of Dermatological Treatment” This review found topical ketoconazole to be highly effective against Malassezia-related skin conditions, though other treatments may outperform it for Tinea and Candida infections.
26 citations
,
January 2011 in “Open Journal of Genetics” In this study, researchers identified five unique sequences of the ovine KAP13-3 gene, with potential implications for wool traits due to observed amino acid changes.
April 2026 in “Amino Acids” This study reviews prior research using transgenic K6/ODC mice and demonstrates that elevated polyamines in epithelial cells contribute significantly to skin tumor development and progression by stimulating proliferation, altering cell signaling and chromatin remodeling, and affecting immune functionality, amongst other mechanisms.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that topical bortezomib increased cell proliferation in hair follicles and sebaceous glands in mice and may activate hair keratin gene expression through GATA-3 transcription factors.
January 2019 in “Proceedings for Annual Meeting of The Japanese Pharmacological Society” In this study, injecting Nε-(carboxymethyl) lysine into skin tissue weakened hair shaft and follicle formation, likely by inhibiting cell proliferation and migration needed for hair follicle morphogenesis.
22 citations
,
February 2012 in “Journal of Investigative Dermatology” A specific gene mutation causes severe skin and nail issues and hair loss.
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.
4 citations
,
November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
7 citations
,
January 2021 in “Frontiers in genetics” This study suggests an association between DNA methylation changes in hair follicles and inherited color dilution in Rex rabbits, contributing to a deeper understanding of epigenetic influences on rabbit pigmentation.
March 2026 in “Zenodo (CERN European Organization for Nuclear Research)” This bibliography catalogues 335+ publications produced using the N-K Model over 13 months and reports no new scientific results.
92 citations
,
April 1999 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests that keratin 9 expression in nonpalmoplantar keratinocytes can be induced by signals from palmoplantar fibroblasts, potentially enabling the use of nonpalmoplantar epidermis to treat palmoplantar wounds.
This study analyzed the genetic variations of the KAP20-1 gene in Chinese Tan sheep lambs and found that the G variant was linked to an increased mean fibre curvature in their fine wool fibres, potentially influencing breeding strategies for this wool trait.
3 citations
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December 2021 in “Recent patents on anti-cancer drug discovery” This review examines the role of SET7/9 in non-histone methylation and its implications in various diseases, including cancer, but presents no new clinical results.
September 2022 in “Research Square (Research Square)” This study found that a specific gene mutation was identified in a family with monilethrix, and treatment with 5% minoxidil liniment improved hair quality in the proband without adverse events.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
November 2022 in “Journal of Investigative Dermatology” Among men with androgenetic alopecia, this study found that taking 5 mg of KX-826 twice daily significantly increased hair count compared to a placebo, with the treatment being well-tolerated and no serious adverse effects reported.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
4 citations
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July 2024 in “Animals” In this study on Chinese Tan sheep, researchers discovered a variant of the KRTAP19-5 gene associated with decreased curvature of fine wool fibres, highlighting potential genetic markers for improving wool quality.