Filetype
MOTIVATION: Transcription factors (TFs) are key regulators of gene expression, and can activate or repress multiple target genes, forming regulatory units, or regulons. Understanding downstream effects of these regulators includes evaluating how TFs cooperate or compete within regulatory networks. Here we present RTNduals, an R/Bioconductor package that implements a general method for analyzing pa
Genetically determined myoclonus disorders are a result of a large number of genes. They have wide clinical variation and no systematic nomenclature. With next-generation sequencing, genetic diagnostics require stringent criteria to associate genes and phenotype. To improve (future) classification and recognition of genetically determined movement disorders, the Movement Disorder Society Task Forc
Filamentous fungi play a key role as decomposers in Earth’s nutrient cycles. In soils, substrates are heterogeneously distributed in microenvironments. Hence, individual hyphae of a mycelium may experience very different environmental conditions simultaneously. In the current work, we investigated how fungi cope with local environmental variations at single-cell level. We developed a method based
Hurler syndrome (HS) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Hematopoietic stem cell transplantation (HSCT) results in long-term survival, although with significant residual disease burden. How this residual disease affects the health-related quality of life is unknown. Therefore, we conducted a multicenter cohort study on functional and
In this review we explore the similarities between spinocerebellar ataxias and dystonias, and suggest potentially shared molecular pathways using a gene co-expression network approach. The spinocerebellar ataxias are a group of neurodegenerative disorders characterized by coordination problems caused mainly by atrophy of the cerebellum. The dystonias are another group of neurological movement diso
Background: Rare and ultra-rare diseases (URDs) are often chronic and life-threatening conditions that have a profound impact on sufferers and their families, but many are notoriously difficult to detect. Niemann-Pick disease type C (NP-C) serves to illustrate the challenges, benefits and pitfalls associated with screening for ultra-rare inborn errors of metabolism (IEMs). A comprehensive, non-sys
Background: The clinical demarcation of the syndrome progressive myoclonus ataxia is unclear, leading to a lack of recognition and difficult differentiation from other neurological syndromes. Objectives: The objective of this study was to apply a refined definition of progressive myoclonus ataxia and describe the clinical characteristics in patients with progressive myoclonus ataxia and with isola
BACKGROUND AND OBJECTIVES: Human genetic studies support a key role of interleukin-6 (IL-6) in the pathogenesis of ischemic stroke. Still, there are only limited data from observational studies exploring circulating IL-6 levels as a risk factor for ischemic stroke. Here, we set out to perform a systematic review and meta-analysis of aggregate data on cohort studies to determine the magnitude and s
Immune thrombocytopenia (ITP) is an autoimmune bleeding disorder. The pathophysiological mechanisms leading to low platelet levels in ITP have not been resolved, but at least involve autoantibody-dependent and/or cytotoxic T cell mediated platelet clearance and impaired megakary-opoiesis. In addition, T cell imbalances involving T regulatory cells (Tregs) also appear to play an important role. Int
Background: The COVID-19 pandemic presents great challenges on transmission prevention, and rapid diagnosis is essential to reduce the disease spread. Various diagnostic methods are available to identify an ongoing infection by nasopharyngeal (NPH) swab sampling. However, the procedure requires handling by health care professionals, and therefore limits the application in household and community s
Context. We present a systematic X-ray spectral-timing study of the recently discovered, exceptionally bright black hole X-ray binary system MAXI J1820+070. Our analysis focuses on the first part of the 2018 outburst, covering the rise throughout the hard state, the bright hard and hard-intermediate states, and the transition to the soft-intermediate state. Aims. We address the issue of constraini
Some of the most fundamental chemical building blocks of life on Earth are the metal elements. X-ray absorption spectroscopy (XAS) is an element-specific technique that can analyse the local atomic and electronic structure of, for example, the active sites in catalysts and energy materials and allow the metal sites in biological samples to be identified and understood. A microfluidic device capabl
Addressing how ecosystem services (ES) are distributed among groups of people is critical for making conservation and environmental policy-making more equitable. Here, we evaluate the distribution and equity of changes in ES benefits across demographic and socioeconomic groups in the United States (US) between 2020 and 2100. Specifically, we use land cover and population projections to model poten
Mild cognitive impairment (MCI) can be an early manifestation of Alzheimer's disease (AD) pathology, other pathologic entities [e.g., cerebrovascular disease, Lewy body disease, LATE (limbic-predominant age-related TDP-43 encephalopathy)], or mixed pathologies, with concomitant AD- and non-AD pathology being particularly common, albeit difficult to identify, in living MCI patients. The National In
We consider the problem of outsourcing computation on data authenticated by different users. Our aim is to describe and implement the simplest possible solution to provide data integrity in cloud-based scenarios. Concretely, our multi-key linearly homomorphic signature scheme (MKLHS) allows users to upload signed data on a server, and at any later point in time any third party can query the server
We report on the commissioning of an ultrafast timing diagnostic for measuring a time-offset signal between two different synchronized ultrashort light pulses. The method is based on sum-frequency generation in a nonlinear crystal. The setup is similar to an auto/cross-correlator setup. In this case, one of the beams is a relatively weak diagnostic beam of visible light from a bending magnet at Fe
Arabinoxylan (AX) with varying arabinose to xylose (A/X) ratios of 0.85, 0.57 and 0.39 was extracted from wheat bran, and the conformations of the AX polysaccharides dispersed in water were investigated using small-angle X-ray scattering. The persistence length (Lp) and the conformation statistics (expressed by the Flory exponent v or the mass fractal) of the AX varied with their A/X ratios. The L
Manganese tetra-pyridyl-porphyrins are found to self-organize in an ordered monolayer on graphene. Moreover, post deposition of cobalt ad-atoms steers the geometric reordering of the layer, yielding the formation of a self-assembled bimetallic network, where both Mn and Co are tetra-coordinated with nitrogen. While manganese shifts from Mn(ii) towards the +2/+3 oxidation state range, depending on
Activation functions are fundamental components in neural networks, enabling non-linear transformations essential for tasks like signal processing, control systems, image analysis, economics, and robotics. They play a crucial role in facilitating processes such as noise reduction, segmentation, and decision-making across various applications. Splines offer an alternative approach to traditional ac
