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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
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February 2019 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” AKR1D1 controls glucocorticoid levels and receptor activity in liver cells.
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August 1998 in “Journal of Investigative Dermatology” μ-opiate receptors in skin cells may affect skin health and healing.
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
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November 2024 in “Cell Biology and Toxicology” Blocking certain receptors in the lungs might help treat a specific type of asthma.