Altered microRNA (miRNA) expression is a common feature of Huntington’s disease (HD) and could participate in disease onset and progression. However, little is known about the underlying causes of miRNA disruption in HD. We and others have previously shown that mutant Huntingtin binds to Ago2, a central component of miRNA biogenesis, and disrupts mature miRNA levels. In this study, we sought to de

Hybridization can result in novel allelic combinations which can impact the hybrid phenotype through changes in gene expression. While misexpression in F1 hybrids is well documented, how gene expression evolves in stabilized hybrid taxa remains an open question. As gene expression evolves in a stabilizing manner, break-up of co-evolved cis- and trans-regulatory elements could lead to transgressive

Currently, there is a need for diagnostic markers in Lewy body disorders (LBD). α-synuclein (αSyn) RT-QuIC has emerged as a promising assay to detect misfolded αSyn in clinically or neuropathologically established patients with various synucleinopathies. In this study, αSyn RT-QuIC was used to analyze lumbar CSF in a clinical cohort from the Swedish BioFINDER study and postmortem ventricular CSF i

Our current view of the evolutionary history, coding and adaptive capacities of Apicomplexa, protozoan parasites of a wide range of metazoan, is currently strongly biased toward species infecting humans, as data on early diverging apicomplexan lineages infecting invertebrates is extremely limited. Here, we characterized the genome of the marine eugregarine Porospora gigantea, intestinal parasite o

Background: Only few studies have compared environmental pesticide air concentrations with specific urinary metabolites to evaluate pathways of exposure. Therefore, we compared pyrimethanil and chlorpyrifos concentrations in air with urinary 4-hydroxypyrimethanil (OHP, metabolite of pyrimethanil) and 3,5,6-trichloro-2-pyridinol (TCPy, metabolite of chlorpyrifos) among pregnant women from the Infan

Background: Delineation of organs at risk (OAR) for anal cancer radiation therapy treatment planning is a manual and time-consuming process. Deep learning-based methods can accelerate and partially automate this task. The aim of this study was to develop and evaluate a deep learning model for automated and improved segmentations of OAR in the pelvic region. Methods: A 3D, deeply supervised U-Net a

BACKGROUND: Coarctation of the aorta coexists with other cardiac anomalies and has long-term complications, including recoarctation, which may require intervention after the primary coarctation repair. This study aims to clarify the prevalence of and risk factors for interventions related to the coarctation complex as well as late mortality in a large contemporary patient population. METHODS AND R

Astrocytes are emerging key players in neurological disorders. However, their role in disease etiology is poorly understood owing to inaccessibility of primary human astrocytes. Pluripotent stem cell-derived cells fail to mimic age and due to their clonal origin do not mimic genetic heterogeneity of patients. In contrast, direct conversion constitutes an attractive approach to generate human astro

Context: It is unclear to what extent the plasma proteome of abdominal fat distribution differs from that of body mass index, and whether the differences have clinical implications. Objective: To evaluate the difference between the plasma proteomic profiles of body mass index (BMI) and waist-to-hip ratio (WHR), and then examine the identified BMI- or WHR-specific proteins in relation to incidence

It is reported that the China–Pakistan Economic Corridor has been affected by extreme precipitation events. Since the 20th century, extreme weather events have occurred frequently, and the damage and loss caused by them have increased. In particular, the flood disaster caused by excessive extreme precipitation seriously hindered the development of the human society. Based on CRiteria Importance Th

Fast transient events, such as the disintegration of liquid bodies or chemical reactions between radical species, involve various processes that may occur at different time scales. Currently, there are two alternatives for monitoring such events: burst- or high-speed imaging. Burst imaging at ultrahigh speeds (∼100 MHz to THz) allows for the capture of nature's fastest processes but only for a nar

This paper presents a novel enterprise architecture concept for mapping business capabilities called the Milky Way. It aims to create an anchoring image that can be used to communicate with various stakeholders. We look at examples from research data management and student administration. All the presented projects, from different universities, were highly successful in achieving stakeholder buy-iThis paper presents a novel enterprise architecture concept for mapping businesscapabilities called the Milky Way. It aims to create an anchoring image that can be used to communicate with various stakeholders. We look at examples from research data management and student administration. All the presented projects, from different universities, were highly successful in achieving stakeholder buy-in

Arctic and subarctic areas have experienced a rapid warming and substantial increases in precipitation in recent decades. The frequency and intensity of some extreme events, such as fires, winter warming events, extreme rainfall, and droughts, has also increased. These climatic changes and other anthropogenic factors have caused profound changes in arctic and subarctic ecosystems with important im