Publications by authors named "N Casadevall"
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.
Background: Erythrocytosis is a hematological disorder usually related to hematopoietic stem cell somatic mutations. However, unexplained erythrocytosis remains frequent. In this study, we evaluated the involvement of IgA1, a regulator of erythropoiesis also implicated in IgA nephropathy (IgAN) pathophysiology, in unexplained polycythemia/erythrocytosis (PE) of IgAN patients.
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- Classical BCR-ABL-negative myeloproliferative neoplasms (MPNs) are disorders caused by mutations in specific genes, primarily affecting hematopoietic stem cells.
- Interferon α (IFNα) has shown potential in inducing remission for MPN patients, and a study involving 48 patients over 5 years assessed its long-term effectiveness by analyzing cell mutations.
- Findings suggest that IFNα is more effective in treating homozygous JAK2V617F mutations and that molecular responses vary with different mutations and dosages of IFNα, indicating a mechanism of HSC exhaustion.
Article Synopsis
- - The study examines how mutations in calreticulin (CALRm) impact patients with essential thrombocythemia and myelofibrosis, showing that these mutations primarily affect blood cells and lead to early clonal dominance in hematopoietic stem and progenitor cells (HSPC).
- - Type 1 CALRm spreads more easily in lymphoid cells than type 2 CALRm and is linked to a greater increase in various blood progenitors, while both types increase megakaryocytic progenitors and show different effects on signaling pathways.
- - Results indicate that CALRm mutations serve as both initial and phenotypic events in the disease progression, with type 1 CALRm exhibiting a stronger influence on blood
This article was originally published without an Open Access but due to the authors final decision to opt for Open Choice this correction was created.
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