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.
July 2024 in “Journal of Investigative Dermatology” This study found that inhibiting the enzyme PDE8A can promote adipocyte differentiation and enhance hair growth in an animal model of androgenetic alopecia, suggesting PDE8A as a potential therapeutic target for restoring dermal adipogenesis and hair cycling.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that TSPyV T antigens can disrupt normal cell differentiation and proliferation in hair follicles and interfollicular epidermis, possibly contributing to trichodysplasia spinulosa pathology.
13 citations
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December 2020 in “PLoS ONE” This study found dependencies between genetic variants and various phenotypes related to fetal and early childhood growth and neurological development in healthy infants, suggesting significant gene candidates for further investigation.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the Polycomb Repressive Complex 2, particularly its component Ezh2, is crucial in regulating dermal fibroblast differentiation and epidermal keratinocyte proliferation during murine skin development.
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.
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.
3 citations
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August 2012 in “Nature Cell Biology” This study found that the Wnt-β-catenin pathway directly promotes TERT expression in both stem and cancer cells, highlighting a mechanistic link between tumorigenesis and pluripotency.
1 citations
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May 2004 in “Biochemical and Biophysical Research Communications” This study identified nine novel KRTAP5 family genes associated with human hair formation, demonstrating preferential expression in hair roots and suggesting their role in hair development.
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.
This study found that the NuMA protein's microtubule-binding domain is essential for proper spindle orientation and differentiation in keratinocytes, affecting skin and hair development in mice.
19 citations
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March 2016 in “Frontiers in Plant Science” This study identified that spermidine-mediated activation of eIF5A by hypusination plays a significant role in Arabidopsis thaliana growth, flowering time, stress adaptation, and development, including changing root and aerial architecture.
11 citations
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August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
6 citations
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October 2012 in “Journal of Heredity” This study identified the Itpr3 gene as responsible for the tufted hair loss phenotype in the BTBR mouse strain.
August 2024 in “American Journal of Medical Genetics Part A” In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.
In this study on Drosophila embryos, researchers observed that the Slit/Robo signaling pathway is crucial for the collective migration and proper positioning of Posterior Signaling Center cells within the hematopoietic niche, highlighting its role in niche assembly and cellular organization.
26 citations
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March 1995 in “Differentiation” This study isolated and sequenced the complete gene rKAP4L1, which encodes a cysteine-rich hair keratin-associated protein in rabbit hair follicles.
May 2025 in “BMC Genomics” This study found that circ 0020938 suppresses hair follicle stem cell proliferation by interacting with the miR-142-5p/DSG4 axis, which aids in the hair follicle cycle's proper progression.
100 citations
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December 2002 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a domain on human chromosome 21q22.1 containing various high glycine-tyrosine and high sulfur keratin-associated protein genes, revealing their diverse expression in hair-forming cells.
November 2020 in “UNC Libraries” In this study, researchers identified seven new genetic loci associated with prostate cancer susceptibility through a multi-stage genome-wide association study.
January 2026 in “Human Mutation” This study reports that a clinical prognostic model based on immune-related genes improved survival prediction for patients with clear cell renal cell carcinoma, also identifying potential drugs targeting the gene DOCK8.
14 citations
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April 2019 in “Genes” This study identified a genetic locus associated with coat type in domestic dogs, showing certain variants linked to single-coated breeds and suggesting potential regulatory roles.
14 citations
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September 1999 in “Mammalian genome” In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.
11 citations
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December 2017 in “Orphanet Journal of Rare Diseases” This study found a previously unreported ST14 gene mutation in a patient with ichthyosis-hypotrichosis syndrome, highlighting novel skin and hair characteristics and emphasizing the critical role of the Asp482 amino acid in matriptase activation.
1 citations
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October 2023 in “BMC Genomics” This study identified miRNAs within the Dlk1-Gtl2 region on chromosome 18 as potential epigenetic regulators of lamb fur traits, with possible implications for the PI3K-AKT signaling pathway.
November 2022 in “Journal of Investigative Dermatology” This study found that in mouse melanocytes, the cytoplasmic dynein complex component Dynlt3 is necessary for proper melanosome transport, acidity regulation, and effective transfer to keratinocytes, linking it to skin pigmentation processes.
18 citations
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January 2013 in “PLoS ONE” This study identified several significant genetic variants associated with alopecia universalis, including a novel association with HLA-DRB5, which may play a hidden role in the disease.
74 citations
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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.