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- Thompson, Paul M., et al.
(författare)
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The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data
- 2014
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Ingår i: BRAIN IMAGING BEHAV. - : Springer Science and Business Media LLC. - 1931-7557 .- 1931-7565. ; 8:2, s. 153-182
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Tidskriftsartikel (refereegranskat)abstract
- The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
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| 5. |
- Bersten, Melina C., et al.
(författare)
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THE TYPE IIb SUPERNOVA 2011dh FROM A SUPERGIANT PROGENITOR
- 2012
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 757:1
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Tidskriftsartikel (refereegranskat)abstract
- A set of hydrodynamical models based on stellar evolutionary progenitors is used to study the nature of SN 2011dh. Our modeling suggests that a large progenitor star-with R similar to 200 R-circle dot-is needed to reproduce the early light curve (LC) of SN 2011dh. This is consistent with the suggestion that the yellow super-giant star detected at the location of the supernova (SN) in deep pre-explosion images is the progenitor star. From the main peak of the bolometric LC and expansion velocities, we constrain the mass of the ejecta to be approximate to 2 M-circle dot, the explosion energy to be E = (6-10) x 10(50) erg, and the Ni-56 mass to be approximately 0.06 M-circle dot. The progenitor star was composed of a helium core of 3-4 M-circle dot and a thin hydrogen-rich envelope of approximate to 0.1M(circle dot) with a main-sequence mass estimated to be in the range of 12-15 M-circle dot. Our models rule out progenitors with helium-core masses larger than 8 M-circle dot, which correspond to M-ZAMS greater than or similar to 25M(circle dot). This suggests that a single star evolutionary scenario for SN 2011dh is unlikely.
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- Ekström, Axel G., et al.
(författare)
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Phonetic correlates of hominin evolution in the late Pliocene and Pleistocene epochs : Becoming pre-adapted for speech
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Annan publikation (övrigt vetenskapligt/konstnärligt)abstract
- Despite decades of research, the field of language evolution lacks a cohesive integrative account, capable of explicating possible linguistic evolution throughout the development of modern humans. We review archaeological findings in search of a timeline during which features of the modern human articulatory morphology emerged. Rudimentary systems of speech may have driven selection for a vocal tract “optimal” for speech in early humans. However, a range of other factors have also enacted substantial morphological changes to the would-be speech articulators. The incorporation of processed and (ultimately) cooked food in the Homo lineage likely facilitated significant reduction of mandible and masticatory muscles, decreased the time spent masticating, and may have been maintainable in the lineage because food processing had already been outsourced to the hands and rudimentary stone tools (reducing selection pressure for robust jaws). The articulatory anatomy of early human ancestors is limited with regard to human speech sounds, but theoretically allows for a greater range of sounds than are observed in nature. We suggest that with decreased pressure to maintain anatomical elements required for mastication of foods that are mechanically challenging to eat, the would-be articulatory complex of human ancestors may have become pre-adapted for the development toward fully modern human speech.
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| 7. |
- Grundy, Myriam M.L., et al.
(författare)
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INFOGEST inter-laboratory recommendations for assaying gastric and pancreatic lipases activities prior to in vitro digestion studies
- 2021
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Ingår i: Journal of Functional Foods. - : Elsevier BV. - 1756-4646. ; 82
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Tidskriftsartikel (refereegranskat)abstract
- In vitro digestion studies often use animal digestive enzyme extracts as substitutes of human gastric and pancreatic secretions. Pancreatin from porcine origin is thus commonly used to provide relevant pancreatic enzymes such as proteases, amylase and lipase. Rabbit gastric extracts (RGE) have been recently introduced to provide gastric lipase in addition to pepsin. Before preparing simulated gastric and pancreatic extracts with targeted enzyme activities as described in in vitro digestion protocols, it is important to determine the activities of enzyme preparations using validated methods. The purpose of this inter-laboratory study within the INFOGEST network was to test the repeatability and reproducibility of lipase assays using the pH-stat technique for measuring the activities of gastric and pancreatic lipases from various sources. Twenty-one laboratories having different pH-stat devices received the same protocol with identical batches of RGE and two pancreatin sources. Lipase assays were performed using tributyrin as a substrate and three different amounts (50, 100 and 200 µg) of each enzyme preparation. The repeatability results within individual laboratories were satisfactory with coefficients of variation (CVs) ranging from 4 to 8% regardless of the enzyme amount tested. However, the inter-laboratory variability was high (CV > 15%) compared to existing standards for bioanalytical assays. We identified and weighted the contributions to inter-laboratory variability of several parameters associated with the various pH-stat equipment used in this study (e.g. reaction vessel volume and shape, stirring mode and rate, burette volume for the automated delivery of sodium hydroxide). Based on this, we established recommendations for improving the reproducibility of lipase assays using the pH-stat technique. Defining accurate and complete recommendations on how to correctly quantify activity levels of enzyme preparations is a gateway to promising comparison of in vitro data obtained from different laboratories following the same in vitro digestion protocol.
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- Mann, J. K., et al.
(författare)
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Opportunities in nanometer sized Si wires for PV applications
- 2013
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Ingår i: Progress in Materials Science. - : Elsevier BV. - 0079-6425. ; 58:8, s. 1361-1387
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Forskningsöversikt (refereegranskat)abstract
- Quantum-confined silicon material has been a very active field of research in the years 1990-2000 with the rapid development of opto-electronics. The main application targeted by this research was a light-emitting device (either LED, or laser). In the years 2000-2010, with the emerging need for efficient and cheap photovoltaic devices, new materials, and in particular new silicon-based materials trigger again a special interest. In particular, all-crystalline-Si tandem solar cells where the high-bandgap material is provided by the 2D confinement of excitons in nm-sized nanowires could provide the high-efficiency potential of a tandem device, while taking benefit of the decade-long buildup of knowhow of crystalline silicon material technology (both science and processing). In a first part of this review, we summarize the features described in the relevant literature for the functioning of a photovoltaic device based on Si NWs. This literature shows that from the conceptual point of view such an all-crystalline-Si-tandem solar cell using quantum confined nanowires should be feasible to produce in order to achieve the goal of inexpensive high efficiency (>30%) Si-based solar cells. Keeping the fabrication of efficient photovoltaic devices as driving theme, we review the dense literature of Si nanowires. The literature on the fabrication of nanometer-sized Si nanowires is reviewed in the second part.
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| 11. |
- Zheng, Hou-Feng, et al.
(författare)
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Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture
- 2015
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 526:7571, s. 112-
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Tidskriftsartikel (refereegranskat)abstract
- The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF <= 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants(1-8), as well as rare, population specific, coding variants(9). Here we identify novel non-coding genetic variants with large effects on BMD (n(total) = 53,236) and fracture (n(total) = 508,253) in individuals of European ancestry from the general population. Associations for BMD were derived from whole-genome sequencing (n = 2,882 from UK10K (ref. 10); a population-based genome sequencing consortium), whole-exome sequencing (n = 3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n = 26,534), and de novo replication genotyping (n = 20,271). We identified a low-frequency non-coding variant near a novel locus, EN1, with an effect size fourfold larger than the mean of previously reported common variants for lumbar spine BMD8 (rs11692564(T), MAF51.6%, replication effect size510.20 s.d., P-meta = 2 x 10(-14)), which was also associated with a decreased risk of fracture (odds ratio = 0.85; P = 2 x 10(-11); ncases = 98,742 and ncontrols = 409,511). Using an En1cre/flox mouse model, we observed that conditional loss of En1 results in low bone mass, probably as a consequence of high bone turnover. We also identified a novel low frequency non-coding variant with large effects on BMD near WNT16 (rs148771817(T), MAF = 1.2%, replication effect size +10.41 s.d., P-meta = 1 x 10(-11)). In general, there was an excess of association signals arising from deleterious coding and conserved non-coding variants. These findings provide evidence that low-frequency non-coding variants have large effects on BMD and fracture, thereby providing rationale for whole-genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population.
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