79 citations
,
August 1998 in “The Journal of Cell Biology” In a transgenic mouse model, this study found that overexpression of keratin 16 in skin keratinocytes led to hyperkeratosis and increased EGF receptor signaling, altering skin cell behavior and structure.
January 2024 in “Animals” This study suggests that the transcription factors SP1 and KROX20 regulate CUX1 gene's effect on the proliferation of ovine dermal papilla cells in vitro.
4 citations
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October 2021 in “Scientific Reports” This study found that NKIRAS2 expression affects skin tumor suppression and HRAS-driven transformation in mice, indicating its role in carcinogenesis depends on expression level and cellular context.
26 citations
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October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
7 citations
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January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study shows that NIPP1 deficiency in mouse epidermis leads to hyperproliferation, hair loss, and chronic skin inflammation, which can be partially alleviated by dexamethasone treatment.
This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.
10 citations
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January 2004 in “Journal of Investigative Dermatology” Krt6a-Cre transgenic mice help study gene effects on hair follicle development and tumor suppression.
5 citations
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October 2024 in “International Journal of Biological Sciences” This study found that a specific fragment of AIMP1, secreted by hair follicle stem cells, activated dermal papilla cells, leading to enhanced hair regrowth and maintenance in mice.
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.
16 citations
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June 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that DHHC13 is crucial for hair anchoring and skin barrier function, with its deficiency in Zdhhc13(skc4) mice leading to cyclic alopecia and skin abnormalities due to cornifelin deficiencies.
56 citations
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December 2011 in “The Plant Journal” AGD1 is important for root hair development in Arabidopsis, working with phosphoinositide signaling and the actin cytoskeleton.
12 citations
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January 2014 in “Cell structure and function” This study suggests that specific combinations of human type I and II hair keratins, particularly K35-K85 and K36-K81, have distinct in vitro assembly properties that are significant for macrofibril formation.
132 citations
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February 2002 in “Journal of Biological Chemistry” This study demonstrated that HOXC13 directly influences hair keratin gene expression by binding to specific DNA motifs, suggesting its role in early hair follicle differentiation.
August 2020 in “Pakistan Journal of Zoology” This study identified a novel genetic mutation, c.429delC in the hairless gene, associated with atrichia with papular lesions in two Pakistani families.
1 citations
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January 2023 in “Biochemical and biophysical research communications” This study found that hepatic KRT79 expression is regulated by PPARA and is significantly associated with liver stress, suggesting it may serve as a diagnostic marker for liver diseases.
1 citations
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April 2016 in “Journal of lipid research” This study suggests that lipin-1 plays a crucial role in keratinocyte differentiation by modulating protein kinase C activity through diacylglycerol levels, with implications for skin biology.
29 citations
,
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.
3 citations
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July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
1 citations
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August 2025 in “Epigenetics & Chromatin” This study explored the role of the histone modification H3K4me3 in cashmere goat dermal papilla cells, finding that increased levels enhanced cell proliferation and activated Wnt signaling genes, suggesting H3K4me3's involvement in hair follicle development through regulation of the gene RSPO3.
79 citations
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February 2009 in “Human Genetics”
36 citations
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October 2000 in “British Journal of Dermatology” This study identified a distinct gene near the hairless locus on chromosome 8p that is responsible for hereditary Marie Unna type hypotrichosis in a German family.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
75 citations
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October 1999 in “Differentiation” This study suggests that mouse keratin 6 isoforms, K6a and K6b, have overlapping but distinct expression profiles, differing notably in their expression in suprabasal cells and response to phorbol esters.
29 citations
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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.
January 2000 in “Acta Academiae Medicine Militaris Tertiae” This study found that the distribution of hair keratin family proteins varies in normal scalp hair follicles, which may aid in identifying the origin of hair neoplasms.
21 citations
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April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
49 citations
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August 2004 in “The FASEB Journal” This study found that transgenic mice expressing human keratin K8 in the epidermis showed increased progression of skin lesions toward malignancy, suggesting a role for K8 in the development of invasive skin cancer.
This research investigated the role of EphA1 in embryonic and adult tissues, generating mouse models suggesting potential links to skin and colon cancer, sepsis, and post-traumatic injury.
33 citations
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October 2005 in “Journal of Investigative Dermatology” A specific gene mutation causes sparse, brittle hair in a family.
25 citations
,
September 1995 in “Biochemistry and Cell Biology” This study found that high levels of human cytokeratin 16 expression in transgenic mice lead to skin lesions and altered keratinocyte structure, suggesting potential implications for human skin disorders and wound healing.