Publications by authors named "Nicolas Poret"

RhoH is an unusual member of the Rho family of small GTP-binding proteins in that it lacks GTPase activity. Since the RhoH protein is constantly bound by GTP, it is constitutively active and controlled predominantly by changes in quantitative expression. Abnormal levels of gene transcripts have been linked to a range of malignancies including acute myeloid leukemia (AML).

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Approximately 30% of the patients who fulfil the criteria of Waldenström's macroglobulinemia (WM) are diagnosed while asymptomatic (indolent), and will not require immediate therapy. Conversely, patients with a disease-related event will be considered for therapy. The physiopathology of these 2 groups remains unclear, and the mechanisms of progression from indolent to symptomatic WM have yet to be fully understood.

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Hairy cell leukemia (HCL) is characterized by underexpression of the intracellular signaling molecule RhoH. Reconstitution of RhoH expression limits HCL pathogenesis in a mouse model, indicating this could represent a new therapeutic strategy. However, while RhoH reconstitution is theoretically possible as a therapy, it is technically immensely challenging as an appropriately functional RhoH protein needs to be specifically targeted.

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Article Synopsis
  • Acquired α-thalassemia myelodysplastic syndrome (ATMDS) is linked to mutations in the ATRX gene and occurs in patients with myelodysplastic syndromes (MDS), with a reported incidence below 0.5% in general MDS cases.
  • This study specifically examined MDS patients experiencing unexplained microcytosis—small red blood cells not caused by iron deficiency or inherited conditions—and found a higher frequency of ATRX mutations (43% among those cases).
  • The research also identified four new mutations in the ATRX gene and emphasizes the role of microcytosis as a useful indicator for detecting these mutations in MDS patients.
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