Introduction Exome sequencing (ES) has significantly contributed to the understanding of genetic causes in Mendelian disorders (Bamshad et al, 2011; Tennessen et al, 2012). However, ES has been less powerful in detecting structural variations (SVs) that …
Introduction NF2 (moesin–ezrin–radixin-like [MERLIN] tumor suppressor) is a member of the band 4.1 superfamily of proteins and is closely related to ezrin–radixin–moesin (ERM) proteins, which functions as links between the cell membrane and actin filaments …
Introduction Coronavirus disease (COVID-19) is caused by SARS-CoV-2, which emerged in late 2019 to cause a pandemic in 2020, with millions of cases of critical disease and death. SARS-CoV-2 infects primarily cells in the respiratory tract to cause a broad …
Introduction Over the past few decades, nonalcoholic fatty liver disease (NAFLD) has become the most common chronic liver disease (worldwide prevalence: ∼25% of the adult population) and is now known to be associated with the components of metabolic …
The survival of a host during infection relies on its ability to rapidly sense the invading pathogen and mount an appropriate response. The bacterivorous nematode Caenorhabditis elegans lacks most of the traditional pattern recognition mechanisms. In this …
Introduction Drosophila melanogaster is a well-known model organism with highly tractable genetics for gaining insight into human metabolism. It contains the counterparts of various essential human systems such as the central nervous system, …
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 Human primordial germ cells (PGCs) are among the first lineages to emerge in the developing gastrulating peri-implantation embryo at weeks 2–3, eventually developing into sperm or eggs. The parental gametes generate the totipotent state at …
Introduction Influenza viruses and coronaviruses (CoV) are major respiratory pathogens with pandemic potential. Influenza A viruses (IAV) and influenza B viruses cause acute respiratory disease (flu) that results in 3–5 million cases of severe respiratory …
Introduction Cilia are structurally and functionally distinct cellular projections, consisting of a microtubule-based axoneme extending from a centriole-derived basal body anchored at the plasma membrane. Cilia consist of multiple sub-compartments (basal …
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 DNA damage caused by ionizing radiation (IR) can induce cell cycle arrest, senescence, differentiation, or cell death, all of which affect tissue homeostasis. It has been estimated that somewhere between a 1,000 to a million DNA damage repair …
Abstract Connexin37-mediated regulation of cell cycle modulators and, consequently, growth arrest lack mechanistic understanding. We previously showed that arterial shear stress up-regulates Cx37 in endothelial cells and activates a Notch/Cx37/p27 …
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 …
