119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
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February 2016 in “Veterinary pathology” Progeroid mouse models show signs of early aging similar to humans, helping us understand aging better.
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November 2005 in “Endocrinology” Hairless protein can block vitamin D activation in skin cells.
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September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
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December 2015 in “Nature Genetics” Mutations in TBX3 cause horses to have more even hair color instead of Dun camouflage.
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February 2012 in “The American Journal of Human Genetics” A specific ATR gene mutation is linked to a hereditary oropharyngeal cancer syndrome.
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April 2010 in “Clinical ophthalmology” Bimatoprost is effective for growing longer, thicker, and darker eyelashes.
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December 1990 in “The journal of cell biology/The Journal of cell biology” Researchers found genes for cysteine-rich proteins that form the protective layer of hair in humans and sheep.
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May 2009 in “Dermato-endocrinology” Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
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April 2009 in “Differentiation” SDF-1/CXCL12 and its receptor CXCR4 are crucial for melanocyte movement in mouse hair follicles.
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September 2020 in “Frontiers in Immunology” Loss of OGG1 increases skin inflammation and auto-antibodies in lupus.
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June 2015 in “American Journal Of Pathology” Diabetes causes lasting cell dysfunctions, leading to serious complications even after blood sugar is controlled.
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May 2013 in “The journal of investigative dermatology/Journal of investigative dermatology” Significant progress was made in understanding PXE, but effective treatments are still needed.
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April 2013 in “Proceedings of the National Academy of Sciences of the United States of America” FGF13 gene changes cause excessive hair growth in a rare condition.
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December 2006 in “The American journal of pathology” Edar signaling is crucial for controlling hair growth and regression.
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February 2021 in “Translational research” Non-coding RNAs could help detect and treat radiation damage.
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January 2017 in “PPAR Research” PPAR-γ helps control skin oil glands and inflammation, and its disruption can cause hair loss diseases.
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April 2018 in “Journal of Allergy and Clinical Immunology” A mutation in the IKZF1 gene causes immune system overactivity, linked to autoimmune diseases like lupus.
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November 2017 in “Medical Sciences” Melanoma's complexity requires personalized treatments due to key genetic mutations and tumor-initiating cells.
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February 2007 in “Journal of biological chemistry/The Journal of biological chemistry” The vitamin D receptor can work without its usual activating molecule.
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July 2020 in “American journal of human genetics” Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
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June 2005 in “Developmental dynamics” Runx3 helps determine hair shape.
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April 2019 in “Journal of Cutaneous Pathology” Hair becomes gray and thin as we age, and while most hair loss in older people is due to genetics, there's a chance for gray hair to regain color under certain conditions.
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October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
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April 2000 in “Journal of histochemistry and cytochemistry/The journal of histochemistry and cytochemistry” ICAM-1 helps regulate hair growth cycles and skin remodeling.
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June 2022 in “Developmental cell” Overactivating Hedgehog signaling makes hair follicle cells in mice grow hair faster and create more follicles.
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April 2017 in “PloS one” Certain genetic variations in the FST gene are linked to better wool quality in Chinese Merino sheep.
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April 2013 in “PLOS ONE” TNFα, IFNγ, and Substance P significantly affect prolactin levels in human skin, suggesting new treatments for skin and hair conditions.