7 citations
,
April 2015 in “Journal of biological chemistry/The Journal of biological chemistry” This study reports the development of a novel protocol to purify human TRPV3 ion channels, revealing functional properties and differences in ligand interactions, enabling further structural and functional research.
April 2018 in “Journal of Investigative Dermatology” In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.
33 citations
,
August 2000 in “Experimental Cell Research”
April 2017 in “Journal of Investigative Dermatology” This study demonstrated that mitochondrial function in keratinocytes is crucial for maintaining skin homeostasis and hair follicle development, as its impairment led to disrupted hair morphogenesis and early death in mice.
475 citations
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October 2006 in “Proceedings of the National Academy of Sciences” This study suggests that folliculin, mutated in Birt–Hogg–Dubé syndrome, and its partner FNIP1 may play a role in energy and nutrient sensing through the AMPK and mTOR pathways.
In this study, introducing the rat OTC gene into spf-ash mice led to increased OTC activity and normalized hair growth and biochemical markers like urinary orotic acid and serum citrulline, partially correcting the symptoms of OTC deficiency.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
113 citations
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June 2010 in “Biological Chemistry” This study found that mice deficient in the enzyme cathepsin L exhibited impaired degradation of autophagolysosomal content, leading to an accumulation of large, abnormal vesicles in various tissues.
75 citations
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September 2007 in “Journal of Heredity” This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.
10 citations
,
April 2020 in “PloS one” This study found that mitochondrial dysfunction due to Crif1 deficiency in hair follicle stem cells significantly slows the hair growth cycle in adult mice but does not impact the maintenance of HFSC populations.
86 citations
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August 2011 in “Toxicological sciences” In this study, researchers found that TCDD exposure accelerated differentiation and altered gene expression in human epidermal cells, indicating the epidermal barrier as a target of TCDD-activated AHR.
28 citations
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February 2010 in “Experimental Dermatology” This study concluded that the frizzy mutation in mice is linked to a T to A transversion in Prss8 and is orthologous to the 'hairless' mutation in rats.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
19 citations
,
September 2010 in “The American journal of pathology” This study demonstrated that elevated glucocorticoid levels in transgenic mice led to pancreatic exocrine cells transforming into hepatocyte-like cells, resulting in pancreatic dysfunction.
13 citations
,
March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
2 citations
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August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
2 citations
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June 2021 in “Research Square (Research Square)” This study identified a novel missense mutation in the FGF5 gene associated with the longhair phenotype in about 3% of Maine Coon cats, suggesting it may be a breed-specific variant.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
341 citations
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November 2009 in “The FASEB Journal” This article reviews the multifunctional roles of calreticulin outside the ER and highlights its impact on wound healing in animal models, but reports no new clinical results.
40 citations
,
July 2019 in “Journal of Investigative Dermatology” In this study, knockout mice lacking the Cyp4f39 gene showed severe skin barrier dysfunction and high early mortality, suggesting its critical role in skin barrier formation and insights into ichthyosis pathogenesis.
January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
13 citations
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November 2018 in “Animal Genetics” This study suggests that a newly identified KRT 71 gene variant may be responsible for curly hair in Curly Coated Retrievers and potentially contributes to follicular dysplasia.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
1 citations
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May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a temperature-sensitive mutation in the FERONIA gene of plants that prevents root hair formation at elevated temperatures, highlighting its role in maintaining root hair growth and response to plant hormones.
21 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
February 2024 in “Skin research and technology” The researchers in this study identified molecular mechanisms involved in frontal fibrosis alopecia, highlighting immune response and fatty acid metabolism, and developed a four-gene diagnostic model showing high accuracy in distinguishing affected individuals from controls.
45 citations
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January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
344 citations
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May 2018 in “EMBO journal” This review discusses the regulation of the MiT-TFE family transcription factors, particularly TFEB, through phosphorylation-mediated subcellular localization and reports no new clinical results.
24 citations
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January 2018 in “Development” This study found that Frizzled genes Fzd3 and Fzd6 are redundantly involved in controlling hair follicle polarity in mice, but operate through distinct mechanisms, highlighting their complex role in hair orientation.