25 citations
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September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
March 2026 in “Adipocyte” Spt4 and Spt6 are essential for fat cell development.
January 2014 in “eScholarship (California Digital Library)” Toll-like receptor 3 helps repair the skin barrier after UV damage.
June 2026 in “Strathprints: The University of Strathclyde institutional repository (University of Strathclyde)” Topical IKKα inhibitors may help prevent CCS tumours.
3 citations
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January 2020 in “Indian Journal of Dermatology” Certain gene variations in the Vitamin D Receptor are linked to higher risk of female hair loss.
August 2019 in “Journal of Invertebrate Pathology” Thymosin beta 4 protects cells from damage by blocking a harmful microRNA and boosting a protective gene.
January 2022 in “International journal of dermatology and venereology” A Chinese man with KID syndrome had a new mutation in the GJB2 gene.
16 citations
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September 2020 in “Animals” circRNA-1926 helps goat stem cells turn into hair follicles by affecting miR-148a/b-3p and CDK19.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
January 2013 in “edoc (University of Basel)” TRF1 is crucial for creating and maintaining stem cells and marks both pluripotent and adult stem cells.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
114 citations
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May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
October 2014 in “Cancer research” Blocking mTORC1 reduces skin tumor growth in mice.
694 citations
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April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
1 citations
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April 2021 in “IntechOpen eBooks” The PCR technique can identify genetic differences in a wool-related gene among different sheep breeds, which may help improve wool and pelt quality.
22 citations
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September 2011 in “Journal of Investigative Dermatology” TCF/Lef1 is essential for skin barrier function by regulating lipid metabolism.
19 citations
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May 2006 in “Clinical and Experimental Dermatology” Researchers found a new mutation causing total hair loss from birth.
95 citations
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February 2019 in “The New England Journal of Medicine” Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
22 citations
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December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” A mouse gene mutation increases the risk of skin cancer.
1 citations
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April 2023 in “International journal of molecular sciences” Certain skin proteins can form anchoring structures without the protein AMACO.
12 citations
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January 1987 in “Carcinogenesis” TCDD changes skin cell growth and keratin production in mice.
9 citations
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November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
3 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
18 citations
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February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
December 2020 in “Innovation in aging” Rapamycin treatment helps reduce brain inflammation and symptoms of mitochondrial disease by blocking specific pathways in mice.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
137 citations
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January 2006 in “Frontiers in bioscience” CRH in the skin acts like the body's stress response system, affecting cell behavior and immune activity.
January 1999 in “Praxis sociológica” Melanocyte stem cells can become melanoma, resembling human melanoma.