TRanscription and EXport (TREX) is a conserved multisubunit complex essential for
embryogenesis, organogenesis and cellular differentiation throughout life. By linking …

Complex chromosome rearrangements (CCRs) are currently defined as structural genome
variations that involve more than 2 chromosome breaks and result in exchanges of …

Export of mRNA from the cell nucleus to the cytoplasm is essential for protein synthesis, a
process vital to all living eukaryotic cells. mRNA export is highly conserved and ubiquitous …

Despite major advances in genome technology and analysis,> 50% of patients with a
neurodevelopmental disorder (NDD) remain undiagnosed after extensive evaluation. A …

Abstract mRNA is the “hermes” of gene expression as it carries the information of a protein-
coding gene to the ribosome. Already during its synthesis, the mRNA is bound by mRNA …

Background RNA sequencing has been proposed as a means of increasing diagnostic rates
in studies of undiagnosed rare inherited disease. Recent studies have reported diagnostic …

The presence of a nuclear envelope, also known as nuclear membrane, defines the
structural framework of all eukaryotic cells by separating the nucleus, which contains the …

Background Parkinson's disease (PD) is a long-term degenerative disease that is caused by
environmental and genetic factors. The networks of genes and their regulators that control …

We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the
highly-conserved TREX (Tr anscription-Ex port) complex, in a clinically complex …

Ribonucleic acid (RNA) homeostasis is dynamically modulated in response to changing
physiological conditions. Tight regulation of RNA abundance through both transcription and …