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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.
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August 2021 in “Journal of biological chemistry/The Journal of biological chemistry” Retinoic acid affects male and female muscle energy use and function differently.
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November 2024 in “Orphanet Journal of Rare Diseases” Changes in genes FGA, VWF, and ACTG1 may contribute to pemphigus vulgaris.
The 1298CC genotype in RA patients leads to higher methotrexate toxicity, while the 1298AA genotype results in better treatment response.
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November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
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July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.
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July 2013 in “British Journal of Dermatology” High MUC-18/MCAM levels in blood indicate a worse outlook for melanoma patients.
October 2022 in “The American journal of gastroenterology” Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
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January 2005 in “Experimental Dermatology” MC-1R in skin cells may influence inflammation and collagen production.