Introduction Cardiomyopathy, a disease of cardiac dysfunction, is the worldwide leading cause of sudden death in young people, including children (Rizzo et al, 2019). Muscle fiber contractions in the heart are synchronized through cell adhesion and …
Introduction Idiopathic pulmonary fibrosis (IPF) is a chronic lung disease with a median survival of 2–3 yr (1) characterised by thickening of the alveolar walls and extracellular matrix (ECM) deposition in the distal part of the lung (2). The current …
Introduction Lying at the interface between the genome and the environment, the epigenome modulates transcriptional programs during development and throughout the life of an organism, in response to endogenous and exogenous cues. Epigenetic changes, …
Abstract Ubiquitin-like with PHD and RING finger domains 1 (UHRF1) is a protein essential for the maintenance of DNA methylation in somatic cells. However, UHRF1 is predominantly localized in the cytoplasm of mouse oocytes and preimplantation embryos, …
Introduction The mechanistic target of rapamycin (mTOR) is a serine/threonine protein kinase that serves as the catalytic subunit of two important regulatory protein complexes, mTORC1 and mTORC2 (Saxton & Sabatini, 2017). Although many factors …
CHARGE syndrome is a neural crest-related disorder mainly caused by mutation of the chromatin remodeler-coding gene CHD7. Alternative causes include mutation of other chromatin and/or splicing factors. One of these additional players is the poorly …
Introduction Microorganisms such as eukaryotic microalgae, bacteria, viruses, fungi, and archaea are the most abundant life forms on Earth. Their symbioses with multicellular hosts can improve host uptake of nutrients (McFall-Ngai et al, 2013), vitamins, …
Introduction Over the last decade, single-cell RNA sequencing (scRNA-seq) has exploded in popularity as a species agnostic tool for studying gene expression at the level of individual cells (Klein et al, 2015; Macosko et al, 2015; Villani et al, 2017; Han …
Introduction The nuclear protein, special AT-rich binding protein 1 (SATB1), functions as a genome organizer and regulates highly ordered chromatin structures by tethering specialized AT-rich genomic regions, such as base unpairing regions (1, 2). SATB1 …
Introduction Colorectal cancer (CRC) is one of the most commonly diagnosed malignant tumors of the digestive tract, characterized by high morbidity and mortality, and currently ranks third in incidence and second in mortality among all malignant tumors ( …
Introduction Apart from harboring and organizing the genome, the cell nucleus plays a crucial role in integrating intra and extracellular mechanical cues to generate an appropriate cellular response. The linker of cytoskeleton and nucleoskeleton (LINC) is …
Introduction The 26S proteasome is the central protein degradation complex in the cytoplasm and nucleus of eukaryotic cells. It consists of the 20S core particle (CP) and one or two copies of the 19S regulator (Wehmer et al, 2017). The three proteolytic …
Introduction Epidermal growth factor receptor (EGFR) is a receptor tyrosine kinase (RTK) that is overexpressed, mutated or otherwise dysregulated in a large fraction of human cancers (Mitsudomi & Yatabe, 2010). On ligand binding, EGFR assumes an active …
Introduction Transposable elements make up a large part of the eukaryotic genome and come in a multitude of variants. They have been shown to drive gene regulation and to exhibit sophisticated ways of selective insertion in the genome (Bourque et al, 2018 …
Introduction The discovery of the Zα domain in the p150 isoform of the dsRNA-editing enzyme ADAR1 (encoded by ADAR), along with genetic studies in both humans (Herbert, 2020a) and mice (de Reuver et al, 2022; Hubbard et al, 2022; Jiao et al, 2022), has …
Introduction Receptor-type transmembrane proteins at the plasma membrane and ligand-type secretory proteins are crucial for intercellular communication. These proteins reach their destination only after productive folding-mediated maturation in the ER. …
Glaucoma is a common neurodegenerative disorder characterized by retinal ganglion cell death, astrocyte reactivity in the optic nerve, and vision loss. Currently, lowering the intraocular pressure (IOP) is the first-line treatment, but adjuvant …
Introduction The cohesin complex has long been the focus of significant attention because of its tight association with eukaryotic genomes’ structure, function, and segregation. Its interaction with chromatin is critical for loop–extrusion-mediated …
Introduction High-quality assemblies are an essential part of many biological projects. For most well-studied organisms, high-quality references are available and large consortia work on improving them further, for example, the Telomere-to-Telomere (T2T) …
Introduction The retinal pigment epithelium (RPE) is a single layer of pigmented cells with a cobblestone-like appearance and resides between retinal photoreceptor cells and the choroid of the eye (Strauss, 2005). The RPE directly contacts with …
