35 citations
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November 2021 in “Journal of Animal Science and Biotechnology/Journal of animal science and biotechnology” This study identified dynamic changes in DNA methylation associated with different growth stages in Tan sheep, which may offer insights to retain their valuable curly fleece as they age.
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.
January 2023 in “Pesquisa Veterinária Brasileira” This study reports that hypotrichosis congenita in Hereford cattle is associated with a KRT71 mutation, leading to color dilution follicular dysplasia.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.
September 2024 in “Journal of the American Academy of Dermatology” 133 citations
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June 1993 in “Molecular and Cellular Biology” This study found that a truncated region of the K5 promoter directs expression in stratified epithelia, particularly in epidermis, hair follicles, and tongue, potentially involving specific keratinocyte nuclear proteins in regulation.
8 citations
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August 1987 in “The Journal of Dermatology” This study reports that the monoclonal antibody BKN-1 specifically stained basal cell epithelioma cells and certain normal skin structures, indicating a similarity in keratin expression between the tumor and follicular epithelium below the isthmus portion.
87 citations
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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.
1 citations
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December 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that manipulating Wnt/β-catenin signaling in embryonic mammary glands impacted their development, with high activity levels hindering branching and potentially redirecting cells toward hair follicle identity instead of mammary tissue.
October 2018 in “Deep Blue (University of Michigan)” This study found that matrix progenitor cell differentiation in hair growth has distinct early and late phases, and generated a mouse model to explore the hair follicle's role in harlequin ichthyosis.
December 2023 in “Sains Malaysiana” In this study, researchers used in silico mutagenesis to identify key calcium-binding sites influencing the stability of Rand protease from Bacillus subtilis, potentially enhancing its application in industries like leather dehairing by improving stability and eliminating the need for additional metal ions during the process.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
14 citations
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November 2024 in “International Journal of Molecular Sciences” This review summarizes existing evidence on how YAP and TAZ proteins are activated in epidermal keratinocytes and their role in coordinating with other signaling molecules to control transcription and influence epidermal cell fate, highlighting their importance beyond the Hippo pathway.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)”
24 citations
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April 2005 in “The Journal of Dermatology” This study found that 2% ketoconazole solution stimulated hair growth significantly in a mouse model, suggesting potential benefits for male pattern hair loss.
September 2023 in “Zenodo (CERN European Organization for Nuclear Research)” The document's conclusion cannot be determined because the content is not available.
26 citations
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October 2018 in “Cancer Management and Research” This study suggests that elevated DKK1 expression, influenced by promoter methylation, is a significant prognostic biomarker for patients with head and neck squamous cell carcinoma.
15 citations
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies KLK14 as a significant factor contributing to hair defects and skin inflammation in a mouse model of Netherton syndrome.
July 2024 in “Journal of Investigative Dermatology” In these two clinical trials, DS-2325a, a KLK5 inhibitor, was found to be generally safe and well tolerated in healthy volunteers, with mild and non-serious adverse events, suggesting its potential for further development as a treatment for Netherton Syndrome.
May 2023 in “Pharmaceuticals” In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.
July 2025 in “International Journal of Molecular Sciences” This genetic study identified four new keratin-associated protein genes in sheep, revealing significant sequence variation and suggesting complex evolutionary dynamics, with unique variants in some sheep breeds linking them to Romanov sheep ancestry.
3 citations
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January 2025 in “Animal Genetics” In this study, researchers conducting a genome-wide association study on 263 adult female goats identified significant genomic variants linked to coarse hair diameter, particularly emphasizing a crucial region on Chromosome 10. These findings enhance understanding of the genetic factors influencing fiber diameter in goats.
65 citations
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September 2014 in “BMC genomics” This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.
9 citations
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December 2022 in “Genes” This study conducted a genome-wide analysis in Tianzhu white yaks, identifying differential genes associated with hair growth between long-haired and normal-haired individuals.
32 citations
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November 1998 in “Journal of Biological Chemistry” This study found that the unique functions of keratin 16 are likely determined by its tail domain, challenging the previous hypothesis about the role of the helix 1B subdomain.
2 citations
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March 2012 in “Hiroshima University Acedemic Information Repository (Hiroshima University)” This article discusses the emergence of "Kainar syndrome" among residents near a nuclear test site in Kazakhstan and names brucellosis combined with vitamin deficiency as the suspected cause, without attributing it to nuclear tests.
49 citations
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March 1996 in “Experimental Brain Research”
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
3 citations
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November 2024 in “Egyptian Journal of Medical Human Genetics” This bibliometric analysis identified SGK1 as a key factor in cancer, showing that its dysregulation can lead to tumor growth and treatment resistance. The authors highlighted SGK1's potential as a therapeutic target, but note that further research is needed to develop effective treatment strategies.
70 citations
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February 2007 in “Journal of Investigative Dermatology” K39 and K40 are the last keratins expressed in hair development, completing the hair keratin catalog.