51 research outputs found
A glassy contribution to the heat capacity of hcp He solids
We model the low-temperature specific heat of solid He in the hexagonal
closed packed structure by invoking two-level tunneling states in addition to
the usual phonon contribution of a Debye crystal for temperatures far below the
Debye temperature, . By introducing a cutoff energy in the
two-level tunneling density of states, we can describe the excess specific heat
observed in solid hcp He, as well as the low-temperature linear term in the
specific heat. Agreement is found with recent measurements of the temperature
behavior of both specific heat and pressure. These results suggest the presence
of a very small fraction, at the parts-per-million (ppm) level, of two-level
tunneling systems in solid He, irrespective of the existence of
supersolidity.Comment: 11 pages, 4 figure
A LOW COST PHYSICS AND ENGINEERING TRAINING REACTOR. Reactor Design and Feasibility Study
The conceptual design of a low cost training reactor for the instruction of physicists and engineers is covered. It is conceived as an instructional tool for a course such as that given at the Oak Ridge School of Reactor Technology. The reactor is of a modified pool type, and is designed for a maximum power level of one Mw. This arrangement will accommodate engineering experiments, shielding experiments, and critical experiments as well as being useful as a neutron and gamma source. (auth
The meanings of genomics: a focus group study of “interested” and lay classifications of salmon genomics
Effects of eight neuropsychiatric copy number variants on human brain structure
peer reviewedMany copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions. © 2021, The Author(s)
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A LOW COST PHYSICS AND ENGINEERING TRAINING REACTOR. Reactor Design and Feasibility Study
The conceptual design of a low cost training reactor for the instruction of physicists and engineers is covered. It is conceived as an instructional tool for a course such as that given at the Oak Ridge School of Reactor Technology. The reactor is of a modified pool type, and is designed for a maximum power level of one Mw. This arrangement will accommodate engineering experiments, shielding experiments, and critical experiments as well as being useful as a neutron and gamma source. (auth
Variants in the 3' untranslated region of the <em>KCNQ1</em>-encoded K<sub>v</sub>7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.
Aims Heterozygous mutations in KCNQ1 cause type 1 long QT syndrome (LQT1), a disease characterized by prolonged heart rate-corrected QT interval (QTc) and life-threatening arrhythmias. It is unknown why disease penetrance and expressivity is so variable between individuals hosting identical mutations. We aimed to study whether this can be explained by single nucleotide polymorphisms (SNPs) in KCNQ1's 3' untranslated region (3'UTR). Methods and results This study was performed in 84 LQT1 patients from the Academic Medical Center in Amsterdam and validated in 84 LQT1 patients from the Mayo Clinic in Rochester. All patients were genotyped for SNPs in KCNQ1's 3'UTR, and six SNPs were found. Single nucleotide polymorphisms rs2519184, rs8234, and rs10798 were associated in an allele-specific manner with QTc and symptom occurrence. Patients with the derived SNP variants on their mutated KCNQ1 allele had shorter QTc and fewer symptoms, while the opposite was also true: patients with the derived SNP variants on their normal KCNQ1 allele had significantly longer QTc and more symptoms. Luciferase reporter assays showed that the expression of KCNQ1's 3'UTR with the derived SNP variants was lower than the expression of the 3'UTR with the ancestral SNP variants. Conclusion Our data indicate that 3'UTR SNPs potently modify disease severity in LQT1. The allele-specific effects of the SNPs on disease severity and gene expression strongly suggest that they are functional variants that directly alter the expression of the allele on which they reside, and thereby influence the balance between proteins stemming from either the normal or the mutant KCNQ1 allele
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