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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
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November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
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November 2010 in “Journal of Allergy and Clinical Immunology” The L412F variant of TLR3 is linked to skin infections, more viral infections, and autoimmune issues.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
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January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
January 2025 in “PLoS ONE” ING5 is crucial for stem cell maintenance and preventing certain cancers.
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September 2022 The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
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April 2016 in “Journal of The American Academy of Dermatology” A patient with advanced kidney cancer and no hepatitis C developed skin inflammation due to a drug called interferon alpha-2a.
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May 2001 in “Development” Overexpression of Hoxc13 in hair cells causes hair loss and skin issues.
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January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
April 2017 in “Journal of Investigative Dermatology” The protein CTCF is essential for skin development, maintaining hair follicles, and preventing inflammation.
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December 2004 in “Developmental biology” cDermo-1 causes dense skin, feathers, and scales in chickens.
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August 2023 in “The EMBO Journal” Kdm6b is crucial for skin cell differentiation.
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October 2020 in “Nature Communications” AP-1 and TGFß work together to drive resistance in basal cell carcinoma, suggesting new treatment options.
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January 2021 in “The journal of gene medicine” Certain genetic differences may affect how likely someone is to get COVID-19 and how severe it might be.
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September 2003 in “Journal of Investigative Dermatology” A missing mK6irs1 gene causes hair loss in mice.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” KIF18B is important for correctly positioning cell division machinery in skin cells, affecting hair follicle development.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” Stress can cause a type of hair loss in mice lacking the CCHCR1 gene.
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May 2019 in “Journal of Clinical Oncology” Some breast cancer treatments cause hair loss similar to male pattern baldness, which can be improved with minoxidil.
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April 2018 in “Journal of Investigative Dermatology” PRC1 is essential for proper skin development and stem cell formation by controlling gene activity.
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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.
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September 2014 in “Nature reviews. Drug discover/Nature reviews. Drug discovery” Specific immune cells cause alopecia areata and blocking certain proteins can prevent it.
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April 2019 in “Bioscience Reports” Certain genetic variations in the RAB5B gene are linked to a higher risk of polycystic ovary syndrome in Chinese Han women.
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August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
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October 1989 in “Genomics” Type I keratin genes are closely linked to the rex locus on mouse chromosome 11, affecting hair development.
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April 2008 in “Developmental biology” Ectodysplasin inhibits Wnt signaling to help form hair follicles.
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
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July 2019 in “PLoS ONE” Deleting podoplanin in mice promotes hair growth by enhancing cell migration.