Publications by authors named "Amandine Le Roy"
Article Synopsis
- Hereditary erythrocytosis is a rare condition with excessive red blood cell production, and a study involved 2,160 patients across Europe focusing on the EGLN1 gene.
- Researchers identified 39 mutations in the EGLN1 gene, including one deletion, which encodes the PHD2 enzyme that regulates the hypoxia-inducible factor.
- The study assessed the effects of these mutations through various methods, identifying 16 as pathogenic, and highlighted the importance of collaborative research in addressing rare genetic disorders.
Article Synopsis
- * Conducted a study to determine the pathogenic role of these genetic variants, leading to the classification of 11 mutations as pathogenic in specific patients and relatives.
- * Highlighted the discovery of new mutations affecting erythrocytosis and the potential for targeted treatment with HIF-2α inhibitors, marking it as a significant step for clinical management of the condition.
Background & Aims: Faecalibacterium prausnitzii, a member of the Clostridium IV group of the Firmicutes phylum that is abundant in the intestinal microbiota, has anti-inflammatory effects. The relative level of F prausnitzii is decreased in fecal samples from patients with inflammatory bowel diseases (IBDs) compared with healthy individuals. Reduced F prausnitzii was correlated with relapse of Crohn's disease after surgery.
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