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January 2020 in “Cell Transplantation” Targeting ACE2 and TMPRSS2 may help prevent or treat COVID-19 in cancer patients.
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June 2019 in “Endocrine Related Cancer” Mutations in certain receptors can cause diseases and offer new treatment options.
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
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October 1980 in “Gastroenterology” The report described a unique case of Cronkhite-Canada syndrome with unusual polyps and an association with multiple myeloma.
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April 2021 in “NAR Genomics and Bioinformatics” PolyQ repeats in neural proteins evolve together, affecting brain function and disease.
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July 2017 in “Cancer Research” Overexpressing NSD3 in mice causes breast cancer-like tumors and gland abnormalities.
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October 2013 in “Molecular Biology of the Cell” The protein CCN2 controls hair growth by affecting hair follicle formation and stem cell activity in mice.
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
October 2017 in “The American Journal of Gastroenterology” Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
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January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
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July 2007 in “Circulation Research” Defects in certain proteins cause major heart abnormalities during early development.
July 1997 in “Clinical Orthopaedics and Related Research” The woman had a benign bone tumor removed from her leg and remained healthy with no issues 8 years later.
April 2018 in “Journal of Investigative Dermatology” Basonuclin 1 (BNC1) helps skin cells multiply and move, which is crucial for wound healing.
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May 1998 in “PubMed” The Bsk mutation doesn't involve keratin gene recombination and its cause is unknown.
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February 2000 in “Journal of Investigative Dermatology” Type VII collagen absence helps skin development by allowing tissue remodeling.
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August 2024 in “Current Issues in Molecular Biology” Keratins 6, 16, and 17 increase in damaged or diseased skin and may help diagnose skin issues.
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May 2005 in “The American journal of dermatopathology/American journal of dermatopathology” The hair defect is due to abnormal inner root sheath keratinization.
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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.
The naked mutation in mice causes hair loss and helps identify keratin genes.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
January 2023 in “Pesquisa Veterinária Brasileira” A KRT71 mutation in Hereford cattle in Uruguay causes thin, curly hair and scaly skin.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A gene variant causes patched hair loss in mice, similar to alopecia areata in humans.
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June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
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