PTPN4 germline variants result in aberrant neurodevelopment and growth

Protein-tyrosine phosphatases (PTPs) are pleomorphic regulators of eukaryotic cellular responses to extracellular signals that function by modulating the phosphotyrosine of specific proteins. A handful of PTPs have been implicated in germline and somatic human disease. Using exome sequencing, we identified missense and truncating variants i

Coarse-grained meandering distributive fluvial system of the Basal Cedar mountain formation, U.S.A.

Funding Information: We thank the following for reviews of this manuscript: Associate Editor Tobi Payenberg, Matt Joeckel, two anonymous reviewers, and John Southard. This work was funded by the SAFARI group. We are deeply grateful to Joe Phillips, Sean Kelly, James Mullins, Ryan King, and Jostein Myking Kjærefjord for help in the field.Peer reviewedPostprin

Evolution of foreland basin fluvial systems in the mid-Cretaceous of Utah, USA (upper Cedar Mountain and Naturita formations)

ACKNOWLEDGEMENTS This work was funded by the SAFARI group. We are deeply grateful to Joe Phillips, Sean Kelly, James Mullins, Ryan King and Jostein Myking Kjærefjord for help in the field. We would also like to thank Associate Editor, Christopher Fielding, for handling the review of this paper. Additionally we thank reviewers Benjamin Cardenas and Brian Currie for their comments and suggested revisions which have greatly enhanced this paper. Open Access via the Jisc Wiley AgreementPeer reviewedPublisher PD

Equid herpesvirus type 1 (EHV-1) disrupt actin cytoskeleton during productive infection in equine leukocytes

Equid herpesvirus type 1 (EHV-1) is a prevalent causative agent of equine diseases worldwide. After primary replication in the respiratory epithelium the virus disseminates systemically through a peripheral blood mononuclear cell (PBMC)-associated viraemia. EHV-1 is the only alphaherpes-virus known so far which is capable of establishing latent infection not only in neurons but also in immune system cells (mainly in lymphocytes and macrophages). Since leukocytes are not the target cells for viral replication but are used to transport EHV-1 to the internal organs, the question remains how the virus avoids the immune response and whether it could potentially be associated with virus-induced cytoskeletal rearrangements. Therefore, the aim of this study was to investigate the progress of EHV-1 replication in leukocytes stimulated by phytohemagglutinin and the impact of EHV-1 infection on the actin cytoskeleton. Using the real-time PCR method we evaluated the quantity of viral DNA from samples collected at indicated time points post infection. In order to examine possible changes in actin cytoskeleton organization due to EHV-1 infection, we performed immunofluorescent staining using TRITC-phalloidin conjugate. The results showed that EHV-1 replicates in leukocytes at a restricted level but with the accompaniment of chromatin degradation. Simultaneously, infection with EHV-1 caused disruption of the actin cytoskeleton; this was particularly apparent in further stages of infection. Disruption of the actin cytoskeleton may lead to the limited release of the virus from the cells, but may be also beneficial for the virus, since at the same time it potentially impairs the immune function of leukocytes

Temporal and spatiotemporal autocorrelation of daily concentrations of Alnus, Betula, and Corylus pollen in Poland

The aim of the study was to determine the characteristics of temporal and space–time autocorrelation of pollen counts of Alnus, Betula, and Corylus in the air of eight cities in Poland. Daily average pollen concentrations were monitored over 8 years (2001–2005 and 2009–2011) using Hirst-designed volumetric spore traps. The spatial and temporal coherence of data was investigated using the autocorrelation and cross-correlation functions. The calculation and mathematical modelling of 61 correlograms were performed for up to 25 days back. The study revealed an association between temporal variations in Alnus, Betula, and Corylus pollen counts in Poland and three main groups of factors such as: (1) air mass exchange after the passage of a single weather front (30–40 % of pollen count variation); (2) long-lasting factors (50–60 %); and (3) random factors, including diurnal variations and measurements errors (10 %). These results can help to improve the quality of forecasting models

Negative parity bands in 100Ru and 150Sm and the interacting boson approximation

Ground-state band members up to Jπ = 10+ in 100Ru and up to 14+ in 150Sm and odd-spin negative parity states up to 15− in both nuclei have been identified from (α, 4n) in-beam γ-ray and conversion electron spectra. The data are interpreted in terms of interacting quadrupole and octupole bosons

Considerations for a European animal welfare standard to evaluate adverse phenotypes in teleost fish

No abstract available

Dysregulation of synaptic pruning as a possible link between intestinal microbiota dysbiosis and neuropsychiatric disorders

The prenatal and early postnatal stages represent a critical time window for human brain development. Interestingly, this window partly overlaps with the maturation of the intestinal flora (microbiota) that play a critical role in the bidirectional communication between the central and the enteric nervous systems (microbiota-gut-brain axis). The microbial composition has important influences on general health and the development of several organ systems, such as the gastrointestinal tract, the immune system, and also the brain. Clinical studies have shown that microbiota alterations are associated with a wide range of neuropsychiatric disorders including autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, and bipolar disorder. In this review, we dissect the link between these neuropsychiatric disorders and the intestinal microbiota by focusing on their effect on synaptic pruning, a vital process in the maturation and establishing efficient functioning of the brain. We discuss in detail how synaptic pruning is dysregulated differently in the aforementioned neuropsychiatric disorders and how it can be influenced by dysbiosis and/or changes in the intestinal microbiota composition. We also review that the improvement in the intestinal microbiota composition by a change in diet, probiotics, prebiotics, or fecal microbiota transplantation may play a role in improving neuropsychiatric functioning, which can be at least partly explained via the optimization of synaptic pruning and neuronal connections. Altogether, the demonstration of the microbiota's influence on brain function via microglial-induced synaptic pruning addresses the possibility that the manipulation of microbiota-immune crosstalk represents a promising strategy for treating neuropsychiatric disorders

Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.

We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease