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.
Unknown etiology is commonly encountered in the kidney pre-transplant routine program. A screening program was performed to detect patients and study recipients that meet the following features: hypertension with no clear etiology and biopsies that do not match with clinical features of classical glomerulopathies.
Bleeding of unknown cause is a group of rare disorders that are still difficult to accurately diagnose. A case report on a patient with hematoma in the perineal region after her first delivery was presented.
Bleeding of unknown cause (BUC) is a diagnosis of exclusion, and it is common for these patients to have congenital platelet function disorders. Whole-exome sequencing may help reach a more accurate diagnosis in these cases.
Inborn errors of immunity comprise a group of several diseases, the most severe of which are immunodeficiency disorders. The latter are characterized by defective T-cell functioning leading to impaired immunity.
