Publications by authors named "Matthieu Mosca"
Article Synopsis
- 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
Heat shock protein 27 (HSP27/HSPB1) is a stress-inducible chaperone that facilitates cancer development by its proliferative and anti-apoptotic functions. The OGX-427 antisense oligonucleotide against HSP27 has been reported to be beneficial against idiopathic pulmonary fibrosis. Here we show that OGX-427 is effective in two murine models of thrombopoietin- and JAKV617F-induced myelofibrosis.
View Article and Find Full Text PDFIdentification of R102P Mutation in Hereditary Thrombocytosis.
Front Endocrinol (Lausanne)
September 2017
The molecular basis of hereditary thrombocytosis is germline mutations affecting the thrombopoietin (TPO)/TPO receptor (MPL)/JAK2 signaling axis. Here, we report one family presenting two cases with a mild thrombocytosis. By sequencing and coding exons, we identified a germline R102P heterozygous mutation in the proband and his daughter.
View Article and Find Full Text PDFGenetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.
Front Endocrinol (Lausanne)
September 2017
Article Synopsis
- * Abnormalities in this signaling pathway can lead to thrombocytosis (high platelet count) or thrombocytopenia (low platelet count), both of which can arise from genetic mutations affecting the MPL signaling.
- * Thrombocytosis may be caused by mutations that enhance MPL signaling or alter TPO levels, while thrombocytopenia can result from failures in MPL trafficking, TPO interaction, or TPO production.
BIOLOGICAL ASPECTS OF JAK/STAT SIGNALING IN BCR-ABL-NEGATIVE MYELOPROLIFERATIVE NEOPLASMS: Myeloproliferative disorders more recently named Myeloproliferative neoplasms (MPN) display several clinical entities: chronic myeloid leukemia (CML), the classical MPN including polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) and atypical and unclassifiable NMP. The term MPN is mostly used for classical BCR-ABL-negative (myeloproliferative disorder) (ET, PV, PMF). These are clonal diseases resulting from the transformation of an hematopoietic stem cell and leading to an abnormal production of myeloid cells.
View Article and Find Full Text PDF