Publications by authors named "V Ernest"
Background: Although heritability of venous thromboembolism (VTE) is high, the thrombophilia screening appears to be positive only in a minority of VTE patients. Adding rare variants screening to identify VTE missing heritability still requires further assessment.
Objective: We report the results of a panel strategy after 3 years of application.
Article Synopsis
- The thrombomodulin (TM) variant c.1611C>A causes the production of a truncated protein (TM536) lacking a cytoplasmic tail and with a shorter transmembrane domain, but little is known about how it is released from cells.
- Research using different endothelial cells showed that TM536 is released through a unique mechanism involving its insertion into the endoplasmic reticulum, where it escapes and enters the typical secretory pathway without being broken down.
- This abnormal release process leads to a soluble TM536 that is less effective at performing its role in activating protein C and is also retained in the early secretory pathway, making it more susceptible to degradation and reducing its presence on the cell surface
Introduction: Dominant-negative effects have been described for 10 F11 variants in the literature.
Aim: The current study aimed at identifying putative dominant-negative F11 variants.
Material And Methods: This research consisted in a retrospective analysis of routine laboratory data.
-negative myeloproliferative neoplasms (MPNs) include three major subgroups-polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF)-which are characterized by aberrant hematopoietic proliferation with an increased risk of leukemic transformation. Besides the driver mutations, which are , more than twenty additional mutations have been identified through the use of next-generation sequencing (NGS), which can be involved with pathways that regulate epigenetic modifications, RNA splicing, or DNA repair. The aim of this short review is to highlight the impact of molecular biology on the diagnosis, prognosis, and therapeutic management of patients with PV, ET, and PMF.
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