There is growing evidence of the role of soluble endoglin in the biology of platelets, including thrombosis. French researchers have investigated the role of genetic variants in the gene encoding endoglin, ENG, and the risk of venous thrombosis development.
Senescence is a hallmark of aging, and senescent cells have a reputation to match. They are ‘zombie cells,’ sort of dead themselves but alive enough to poison their surroundings through senescence-associated secretory phenotype (SASP). The reality, though, is more complex.
Angiogenesis plays a crucial role in multiple myeloma and its prognosis, with the success of antiangiogenic therapies being limited. Exosomes mediate cell-to-cell cross talk during the progression of cancer by transporting their molecular cargo, which include long non-coding RNAs (lncRNAs); their role in multiple myeloma was investigated.
Inflammatory bowel disease (IBD) is sometimes associated with spondyloarthritis (SpA) and it highly impacts patients’ quality of life. It is crucial to understand the pro-inflammatory processes that take place during the pathogenesis of IBD-associated SpA.
Variants in several subunits of the Mediator protein complex are responsible for MEDopathies, which present variable clinical manifestations and modes of inheritance. Researchers from Université de Paris Cité have investigated the role of MED16, a subunit of the evolutionary-conserved Mediator complex, in MEDopathies.
Atrial septal defect (ASD) is a congenital heart condition where the formation of the connection between the atrial chambers is defective, thus allowing left-to-right shunting and the consequent risk of atrial fibrillation, stroke and heart failure, among others.
It is known that >70% of the genes involved in pathogenic hearing loss are involved in autosomal recessive nonsyndromic hearing loss (ARNSHL), which accounts for 1 case for every 166 individuals in Iran due to the high rate of consanguineous marriage in the country.
Genetic variants in core-spliceosome components are tied to a variety of aberrant splicing-driven inherited disorders. CWF19-like protein 2 (CWF19L2) is such a key component located in the spliceosome complex in charge of maturing pre-RNA. No disease-phenotype has been established for CWF19L2.
Scientists at de Duve Institute focused on the genetic causes of vascular anomalies, more specifically on capillary malformation with dilated veins (CMDV).
Researchers from Charité University Hospital Berlin and affiliated organizations presented data from a study that linked variants in ANO4 to different types of epilepsy.
RSS
