In this study, researchers found two non-synonymous SNPs in the TERT gene associated with mean wool staple strength in sheep, suggesting TERT as a potential candidate gene for improving wool traits.
July 2024 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a new pathogenic variant, c.1081G>T; p.(Glu361*), in the KRT31 gene as a cause of autosomal-dominant monilethrix, highlighting the role of hair keratin proteins in hair and nail tissue disorders.
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.
January 2017 in “Journal of Chemical Biological and Physical Sciences” This study found that human hair keratin genes contain a few simple sequence repeats, with one repeat in the exon of KRT31 and additional repeats in introns, varying in length compared to their orthologues.
114 citations
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July 2003 in “PubMed” This study found that KSR1 is necessary for v-Ha-ras-mediated skin tumor formation but not for MT-driven mammary cancer, indicating its potential as a therapeutic target in Ras/MAPK signaling-related tumors.
March 2023 in “JAAD case reports” This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.
April 2017 in “Journal of Investigative Dermatology” This study found that a single dose of TRP significantly reduced the number of UV-B-induced actinic keratosis lesions in a mouse model and was associated with improved skin histology and minimal side effects.
46 citations
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May 1995 in “Proceedings of the National Academy of Sciences” This study demonstrated that a specific 9-kbp fragment of the bovine keratin 6 gene effectively directs tissue-specific and inducible expression in transgenic mice, suggesting potential applications for targeted gene therapy in hyperproliferative skin conditions.
6 citations
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February 1997 in “International Journal of Dermatology” In this study, the lack of cathepsin expression in Kaposi's sarcoma lesions suggests a benign hyperplastic origin for these lesions.
29 citations
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October 2010 in “Journal of Investigative Dermatology” This research found that activating a KrasG12D mutation in mice led to skin thickening, papillomas, and hair growth issues, suggesting that even rare KRAS mutations can mimic human RAS/MAPK syndrome symptoms.
This report describes a rare case of kerion in a 6-year-old boy in Ireland, treated with oral Itraconazole and steroids, highlighting the condition's unusual occurrence in the region.
23 citations
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January 2005 in “Nihon Ishinkin Gakkai zasshi” This case study identified Trichophyton rubrum as the cause of trichophytia profunda acuta in a patient using nested PCR, suggesting an alternative diagnostic approach when KOH tests and cultures fail.
January 1999 in “Journal of Investigative Dermatology” 418 citations
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January 2018 in “Journal of Investigative Dermatology” This study identified at least four distinct fibroblast populations in adult human skin, each with unique functional properties, suggesting potential therapeutic applications for wound healing and fibrosis-related diseases.
375 citations
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June 2013 in “Biochimica et biophysica acta. Molecular cell research” This review examines the process of cornification as a mode of programmed cell death and outlines how keratinocytes activate anti-cell death mechanisms to maintain epidermal homeostasis, but reports no new results.
90 citations
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December 2008 in “Journal of Investigative Dermatology” Thyroid-stimulating hormone affects hair follicles but doesn't change hair growth or color.
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.
74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
73 citations
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May 2009 in “Proceedings of the National Academy of Sciences” This study found that disrupting the Sox21 gene in mice led to progressive hair loss and regrowth, identifying Sox21 as a key regulator of hair shaft cuticle differentiation.
68 citations
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August 2014 in “PeerJ” This study found that proteomic analysis can distinguish hair samples across different ethnicities and body regions based on keratin protein levels, which may aid forensic hair identification.
68 citations
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December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study suggests a regulatory model where HOXC13 activates Foxn1, affecting hair and nail differentiation, supported by similarities in Hoxc13(tm1Mrc) and Foxn1(nu) mice phenotypes and gene expression patterns.
65 citations
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November 2013 in “The EMBO Journal” HDAC1 is crucial for skin development and preventing tumors.
56 citations
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July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
50 citations
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March 2018 in “BMC Genomics” This study expands knowledge of non-coding RNAs in goats and other mammals, enhancing understanding of their roles in hair follicle growth and regression.
42 citations
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January 2014 in “BMC Genomics” This study highlights the loss of hair-type keratin genes in cetaceans compared to terrestrial mammals, suggesting a potential adaptive role linked to their hairless phenotype and habitat changes.
41 citations
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July 2016 in “Journal of Investigative Dermatology” This study identified molecular differences between dysplastic nevi and common melanocytic nevi, including altered keratinocyte differentiation, increased hair follicle-related molecule expression, and distinct immune microenvironment characteristics in dysplastic nevi.
39 citations
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January 2020 in “Frontiers in Genetics” This study found that stage-specific epigenetic changes, particularly involving the gene PDGFC, may affect wool fiber development in Zhongwei goats, potentially serving as a biomarker for fur goat selection.
35 citations
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August 2009 in “Differentiation” This study found that transcription factors HOXC13, LEF1, and FOXN1 repress DSG4 transcription, with the Notch pathway possibly involved in maintaining DSG4 expression in hair follicles.
30 citations
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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.
26 citations
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July 2019 in “Dermatology and Therapy” This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.