Publications by authors named "Marine Delamare"
Hereditary congenital erythrocytosis results from constitutive activation of the hypoxia pathway. This pathway is controlled by regulation of the α isoforms of the hypoxia-inducible factor α/β heterodimer, notably via hydroxylation by prolyl hydroxylase domain 2 (PHD2). Mutations affecting PHD2 are involved in Type 3 erythrocytosis.
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- 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.