Adherens junction-associated protein 1 (AJAP1) is a transmembrane protein that inhibits tumor cell migration and is a susceptibility gene for migraine. Recent hypotheses have pointed toward the potential involvement of AJAP1 in epilepsy and other neurological disorders.
Epithelial ovarian cancer (EOC) is the most predominant histologic type of ovarian cancer, with about 55% of patients at an advanced stage when diagnosed; overall survival remains poor.
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.
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.
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.
The export of RNA from the cell nucleus is a key mechanism in the cell and during developmental stages. The pathway involving NTF2-related export protein 1 (NXT1) and nuclear RNA export factor 1 (NXF1) mediates bulk polyA mRNA through the nuclear pores.
One in every 500 newborns worldwide are affected by nonsyndromic hearing loss (NSHL). Whole-exome sequencing may help in identifying the genetic cause of NSHL.
Recent findings discovered a mutation in the METTL23 gene, which encodes methyltransferase-like protein 23, in a pedigree of normal-tension glaucoma (NTG). The aim of researchers from the Institute for Vision Research, The University of Iowa Roy J and Lucille A Carver College of Medicine was to confirm an association of mutations in this gene with NTG.
Steroid-resistant nephrotic syndrome (SRNS) is a disease characterized by hypoalbuminemia, proteinuria, edema and hyperlipidemia, and a cause of chronic kidney disease in the pediatric population.
