16 citations
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September 2015 in “International Journal of Molecular Sciences” A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
11 citations
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April 2022 in “Biophysical Journal” Disulfide bonds in keratin fibers break more easily under stress, especially when wet, affecting fiber strength.
37 citations
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January 2006 in “Carcinogenesis” Antizyme slows skin tumor growth by reducing cell growth in mice.
2 citations
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January 1960 in “Australian Journal of Biological Sciences” The Naked gene in mice causes abnormal sebaceous glands and disrupts hair follicle organization.
2 citations
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August 2023 in “Development” Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
16 citations
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August 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” MED1 is essential for normal hair growth and maintaining hair follicle stem cells.
9 citations
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November 2013 in “Journal of Investigative Dermatology” Overexpressing CtBP1 in skin cells causes skin and hair problems.
April 2016 in “Journal of Investigative Dermatology” SOX4 is crucial for the development of melanoma.
37 citations
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August 1999 in “Journal of Investigative Dermatology” A specific gene mutation causes complete hair loss without other health issues.
75 citations
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January 2004 in “Molecular and Cellular Biology” XEDAR deficiency prevents muscle degeneration in EDA-A2 transgenic mice.
29 citations
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February 2001 in “Proceedings of the National Academy of Sciences” A specific DNA region controls skin cell gene expression by working with certain proteins.
9 citations
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January 1975 in “PubMed” Nude mice are hairless due to a shared defect affecting both skin and thymus, not just thymic issues.
May 2000 in “Journal of Investigative Dermatology” Hedgehog signaling is crucial for hair development, cadherins affect cell adhesion, neutrophils play a role in skin lesions, and BP230 autoantibodies impact skin stability.
August 2024 in “Plant Signaling & Behavior” OsPRX83 helps rice survive stress by improving stress response and antioxidant activity.
451 citations
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March 2005 in “Endocrine Reviews” The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
9 citations
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July 2022 in “Cell reports” Sox2 controls hair color by affecting pigment production in hair follicles.
36 citations
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February 2016 in “British journal of pharmacology” Sirtuin 1 could be a potential drug target for treating hypertrophic scars.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
A new genetic mutation was found causing hair and eye issues in a boy.
21 citations
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August 2007 in “Experimental Dermatology” Overexpression of hurpin in mice leads to abnormal skin and higher skin cancer risk.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
February 2024 in “Pediatric Dermatology” A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
February 2020 in “Definitions” Mutations in the KRT16 gene can cause skin and nail disorders.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
3 citations
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April 2012 in “Cancer research” Mouse skin cancer progression involves a unique group of cells marked by ABCG2 and MTS24.
48 citations
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April 2008 in “Human Molecular Genetics” Progerin affects cell shape but not hair or skin in mice.
12 citations
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February 1998 in “Gene” The B2 genes are crucial for hair growth in rats.
2 citations
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April 2010 in “The Open Dermatology Journal” Corneodesmosin is essential for skin and hair health, and its dysfunction can lead to skin and hair disorders.