4 citations
,
January 2019 in “International journal of molecular sciences” This study suggests that β-catenin plays an important role in wool follicle development in transgenic sheep by enhancing the expression of keratin protein genes.
4 citations
,
September 2016 in “Molecular Medicine Reports” This study identified genes potentially involved in hair and cashmere growth in the Laiwu black goat, highlighting specific gene expression differences between hair-growing and hairless skin.
2 citations
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that skin surface lipids contain measurable mRNAs, providing a non-invasive way to study skin diseases, with specific gene expression changes observed in atopic dermatitis patients.
May 2026 in “Frontiers in Pharmacology” In this study, DOP treatment improved hair regrowth in androgenetic alopecia by altering local steroid metabolism and follicular morphology.
December 2023 in “Communications biology” This study found that inhibiting the HEDGEHOG-GLI1 pathway could reduce keloid size and gene expression, suggesting it as a potential therapeutic target for keloid pathogenesis.
September 2023 in “medRxiv (Cold Spring Harbor Laboratory)” This study found that many conditions in patients with COVID-19 were significantly increased compared to controls, with specific phenotypes identified across different demographic and diagnostic attributes.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
1 citations
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January 2019 in “Advances in Medical Sciences” This study found that a combination of azelaic acid, minoxidil, and caffeine significantly reduced skin flap necrosis in rats, likely by increasing nitric oxide content and iNOS expression, compared to individual treatments.
January 2022 in “Dermatology Review” This case report details an occurrence of PRIDE syndrome accompanied by lumbosacral hypertrichosis.
11 citations
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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.
29 citations
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September 2017 in “Genes” This study found that in Merino-Southdown cross sheep, the presence of the C variant of the KRTAP26-1 gene was associated with higher wool quality, including increased wool yield and staple length.
152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study presents evidence that keratitis–ichthyosis–deafness syndrome is caused by a mutation in the connexin 26 gene, expanding the gene's known involvement in various disorders.
2 citations
,
August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This review discusses the genetic origins of autosomal recessive woolly hair with hypotrichosis and reports no clinical results; it highlights the link to homozygous variants in the K25 keratin gene.
38 citations
,
October 2001 in “British Journal of Dermatology” This study identified a new keratin, K6irs, as a potential histological marker for the inner root sheath of hair follicles in mice and humans, and as a candidate gene for hereditary hair defects.
14 citations
,
December 2016 in “PloS one” This study found that Keratin 26 is expressed differently in hair follicle phases, particularly during catagen and telogen, influencing cashmere growth and interacting antagonistically with the BMP signaling pathway.
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.
50 citations
,
July 2008 in “British Journal of Dermatology” 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.
32 citations
,
January 2020 in “Journal of Molecular Histology” This research identified K31 as a new marker for distinguishing clear secretory cells in human eccrine sweat glands, aiding in differentiating between distinct cell types within these glands.
53 citations
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October 2003 in “Genetics” This study identified a mutation hotspot in the caracul (Ca) locus of mice, implicating the mK6irs1/Krt2-6g gene in hair formation and potentially human hair and skin diseases.
August 2001 in “The Journal of Cell Biology” In this study, the researchers identified a third keratin 6 gene in mice and developed a double knockout model that could aid in hair growth research.
26 citations
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February 1998 in “DNA and Cell Biology” This research identified that the constitutive and inducible expression of the Keratin 6 gene in transgenic mice skin is controlled by multiple regulatory elements spread throughout its 5' flanking region.
94 citations
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October 1994 in “The Journal of Cell Biology” This study demonstrates that overexpression of K16 in transgenic mice disrupts normal keratinization, leading to hyperkeratosis, acanthosis, and alterations in the skin's epithelial cells.
57 citations
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July 2000 in “Toxicology Letters” This study found that the K6/ODC transgenic mouse model is highly sensitive to identifying genotoxic carcinogens, showing 100% concordance with traditional rodent bioassays.
139 citations
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December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
December 2015 in “OPAL (Open@LaTrobe) (La Trobe University)” In human hair follicle keratinocytes, this study found that treatment with the pharmacological inhibitor QLT0267 led to a strong inhibition of proliferation and migration and induced nearly 100% apoptosis.
32 citations
,
April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
119 citations
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September 2000 in “Journal of Biological Chemistry” This study found that the K19 promoter is active in certain gastrointestinal cancer cells and its activity is influenced by the interaction between GKLF and Sp1 transcription factors.