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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.
January 2024 in “Archives of Endocrinology and Metabolism” A new gene mutation causes insulin resistance in a girl and her mother.
243 citations
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October 2003 in “Developmental biology” Ectodin integrates BMP, SHH, and FGF signals in developing ectodermal organs.
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October 2006 in “Journal of Cell Science” Keratin 10 end domains may increase skin cancer risk by reducing cell death.
February 2025 in “PubMed” CS12192 effectively treats alopecia areata with better safety than current options.
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January 2022 in “PloS one” Deleting the p63 gene in certain cells causes problems in thymus development and severe hair loss in mice.
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September 2023 in “Journal of the American Academy of Dermatology” CTP-543 effectively promotes hair regrowth in adults with moderate to severe alopecia areata.
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June 2013 in “Genes & development” Cav1.2 affects hair growth and could be a target for hair loss treatments.
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June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A boy's skin fragility and sparse hair were caused by a genetic mutation affecting skin cell adhesion.
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January 2016 in “Journal of Investigative Dermatology” Mice without the IL-6 gene had more hair growth after injury due to higher activity of a related protein, Stat3.
January 2026 in “Current Issues in Molecular Biology” miR-5110 affects alpaca pigmentation by altering specific gene expressions.
February 2016 in “Science” Foxc1 and COL17A1 are crucial for maintaining healthy hair follicles and preventing hair loss.
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September 2015 in “Orphanet Journal of Rare Diseases” Revertant cell therapy could be a future treatment for Ichthyosis with confetti.
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August 1998 in “The Journal of Cell Biology” Keratin 16 delays skin maturation and affects skin and hair development in mice.
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January 2012 in “The journal of investigative dermatology/Journal of investigative dermatology” Chemokine signaling is important for hair development.
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April 2008 in “Toxicologic Pathology” CI-1033 causes skin lesions in rats, similar to humans, due to EGF receptor inhibition.
April 2017 in “Journal of Investigative Dermatology” Eating a lot of fat increases PKCβ and inflammation in skin fat cells, which affects skin and hair health.
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July 2017 in “Scientific Reports” JMJD3 and NF-κB activate Notch1, which is essential for skin cell movement and wound healing.
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
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December 2012 in “Current opinion in cell biology” Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
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December 2021 in “Frontiers in Cell and Developmental Biology” BBS7 is essential for healthy gums by supporting cell function and blood flow.
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June 2023 in “Journal of cell science” Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
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April 2025 in “Science Advances” Loss of Ten1 in mice causes telomere shortening and symptoms similar to human dyskeratosis congenita.
January 2024 in “The journal of investigative dermatology/Journal of investigative dermatology” AP-2α and AP-2β are crucial for healthy skin and hair.
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October 2007 in “Journal of Investigative Dermatology” Delta1 is crucial for controlling skin cell growth and preventing tumors in mice.
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January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
January 2012 in “Durham e-Theses (Durham University)” Keratin 15 affects cell behavior and characteristics in skin cells.
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April 2010 in “Developmental Cell” β-catenin in the dermal papilla is crucial for normal hair growth and repair.