43 research outputs found

    Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach

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    Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene and genome-wide association studies (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) and both parents from 412 families (some probands were siblings). We assessed 75 single nucleotide polymorphisms (SNPs) in 465 parent–child trios; 117 additional SNPs in 211 trios; and 4 additional SNPs in 254 trios. We performed SNP and gene-based transmission disequilibrium tests and compared nominally significant SNP results with those from a large independent case–control cohort. After quality control 71 SNPs were available in 371 trios; 112 SNPs in 179 trios; and 3 SNPs in 192 trios. 17 were candidate SNPs implicated in TS and 2 were implicated in obsessive–compulsive disorder (OCD) or autism spectrum disorder (ASD); 142 were tagging SNPs from eight monoamine neurotransmitter-related genes (including dopamine and serotonin); 10 were top SNPs from TS GWAS; and 13 top SNPs from attention-deficit/hyperactivity disorder, OCD, or ASD GWAS. None of the SNPs or genes reached significance after adjustment for multiple testing. We observed nominal significance for the candidate SNPs rs3744161 (TBCD) and rs4565946 (TPH2) and for five tagging SNPs; none of these showed significance in the independent cohort. Also, SLC1A1 in our gene-based analysis and two TS GWAS SNPs showed nominal significance, rs11603305 (intergenic) and rs621942 (PICALM). We found no convincing support for previously implicated genetic polymorphisms. Targeted re-sequencing should fully appreciate the relevance of candidate genes

    Kaon properties in (proto)neutron stars

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    The modification on kaon and antikaon properties of in the interior of (proto-)neutron stars is investigated using a chiral SU(3) model. The parameters of the model are fitted to nuclear matter saturation properties, baryon octet vacuum masses, hyperon optical potentials and low energy a kaon-nucleon scattering lengths. We study the kaon/antikaon medium modification and explore the possibility of antikaon condensation in (proto-)neutron star matter at zero as well as finite temperature/entropy and neutrino content. The effect of hyperons on kaon and antikaon optical potentials is also investigated at different stages of the neutron star evolution.Comment: 17 pages including 4 figure

    Phylogenomic analysis of a 55.1 kb 19-gene dataset resolves a monophyletic Fusarium that includes the Fusarium solani Species Complex

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    Scientific communication is facilitated by a data-driven, scientifically sound taxonomy that considers the end-user¿s needs and established successful practice. In 2013, the Fusarium community voiced near unanimous support for a concept of Fusarium that represented a clade comprising all agriculturally and clinically important Fusarium species, including the F. solani species complex (FSSC). Subsequently, this concept was challenged in 2015 by one research group who proposed dividing the genus Fusarium into seven genera, including the FSSC described as members of the genus Neocosmospora, with subsequent justification in 2018 based on claims that the 2013 concept of Fusarium is polyphyletic. Here, we test this claim and provide a phylogeny based on exonic nucleotide sequences of 19 orthologous protein-coding genes that strongly support the monophyly of Fusarium including the FSSC. We reassert the practical and scientific argument in support of a genus Fusarium that includes the FSSC and several other basal lineages, consistent with the longstanding use of this name among plant pathologists, medical mycologists, quarantine officials, regulatory agencies, students, and researchers with a stake in its taxonomy. In recognition of this monophyly, 40 species described as genus Neocosmospora were recombined in genus Fusarium, and nine others were renamed Fusarium. Here the global Fusarium community voices strong support for the inclusion of the FSSC in Fusarium, as it remains the best scientific, nomenclatural, and practical taxonomic option availabl

    Human subcortical brain asymmetries in 15,847 people worldwide reveal effects of age and sex

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    The two hemispheres of the human brain differ functionally and structurally. Despite over a century of research, the extent to which brain asymmetry is influenced by sex, handedness, age, and genetic factors is still controversial. Here we present the largest ever analysis of subcortical brain asymmetries, in a harmonized multi-site study using meta-analysis methods. Volumetric asymmetry of seven subcortical structures was assessed in 15,847 MRI scans from 52 datasets worldwide. There were sex differences in the asymmetry of the globus pallidus and putamen. Heritability estimates, derived from 1170 subjects belonging to 71 extended pedigrees, revealed that additive genetic factors influenced the asymmetry of these two structures and that of the hippocampus and thalamus. Handedness had no detectable effect on subcortical asymmetries, even in this unprecedented sample size, but the asymmetry of the putamen varied with age. Genetic drivers of asymmetry in the hippocampus, thalamus and basal ganglia may affect variability in human cognition, including susceptibility to psychiatric disorders

    Hydrogenated amorphous silicon germanium by Hot Wire CVD as an alternative for microcrystalline silicon in tandem and triple junction solar cells

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    We study hydrogenated amorphous silicon germanium (a-SiGe:H) deposited by HWCVD for the use as low band gap absorber in multijunction junction solar cells. We deposited layers with Tauc optical band gaps of 1.21 to 1.56 eV and studied the hydrogen bonding with FTIR for layers that were deposited at several reaction pressures. For our reaction conditions, we found an optimal reaction pressure of 38 µbar. The material that is obtained under these conditions does not meet all device quality requirements for a-SiGe:H, which is, as we hypothesize, caused by the presence of He that is used to dilute the GeH4 source gas. We present an initial single junction n-i-p solar cell with a Tauc optical band gap of 1.45 eV and a short circuit current density of 18.7 mA/cm2
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