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This pipeline also recurrently identified a few homozygous variants in multiple patients, the majority of which appear in regions poorly covered in large databases, suggesting that these variants are systematically missed when using older analytical tools

Medical applications Anti-inflammation and tissue protection: can reduce cell damage caused by hypoxia, allergies, or inflammatory reactions, and promote tissue repair

These effects are related to its ability to regulate collagen homeostasis and wound re-epithelialization and inhibit TGF- signaling transduction and TM fibrosis

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Kaneko JJ (1980) 4 - Porphyrin, heme, and erythrocyte metabolism: the porphyrias

On the other hand, activated autophagy simultaneously decreases ROS generation through removal of damaged mitochondria and activation of antioxidant transcription factors (e.g., Nrf2) [164, 165]