| 1. |
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| 2. |
- Loth, Daan W, et al.
(författare)
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Genome-wide association analysis identifies six new loci associated with forced vital capacity
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 46, s. 669-677
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Tidskriftsartikel (refereegranskat)abstract
- Forced vital capacity (FVC), a spirometric measure of pulmonary function, reflects lung volume and is used to diagnose and monitor lung diseases. We performed genome-wide association study meta-analysis of FVC in 52,253 individuals from 26 studies and followed up the top associations in 32,917 additional individuals of European ancestry. We found six new regions associated at genome-wide significance (P < 5 × 10(-8)) with FVC in or near EFEMP1, BMP6, MIR129-2-HSD17B12, PRDM11, WWOX and KCNJ2. Two loci previously associated with spirometric measures (GSTCD and PTCH1) were related to FVC. Newly implicated regions were followed up in samples from African-American, Korean, Chinese and Hispanic individuals. We detected transcripts for all six newly implicated genes in human lung tissue. The new loci may inform mechanisms involved in lung development and the pathogenesis of restrictive lung disease.
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| 3. |
- Soranno, Patricia A., et al.
(författare)
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LAGOS-NE : A multi-scaled geospatial and temporal database of lake ecological context and water quality for thousands of U.S. lakes
- 2017
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Ingår i: GigaScience. - : Oxford University Press (OUP). - 2047-217X. ; 6:12, s. 1-22
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Tidskriftsartikel (refereegranskat)abstract
- Understanding the factors that affect water quality and the ecological services provided by freshwater ecosystems is an urgent global environmental issue. Predicting how water quality will respond to global changes not only requires water quality data, but also information about the ecological context of individual water bodies across broad spatial extents. Because lake water quality is usually sampled in limited geographic regions, often for limited time periods, assessing the environmental controls of water quality requires compilation of many data sets across broad regions and across time into an integrated database. LAGOS-NE accomplishes this goal for lakes in the northeastern-most 17 US states. LAGOS-NE contains data for 51101 lakes and reservoirs larger than 4 ha in 17 lake-rich US states. The database includes 3 datamodules for: lake location and physical characteristics for all lakes; ecological context (i.e., the land use, geologic, climatic, and hydrologic setting of lakes) for all lakes; and in situmeasurements of lake water quality for a subset of the lakes fromthe past 3 decades for approximately 2600–12 000 lakes depending on the variable. The database contains approximately 150000 measures of total phosphorus, 200 000 measures of chlorophyll, and 900 000 measures of Secchi depth. The water quality data were compiled from87 lake water quality data sets fromfederal, state, tribal, and non-profit agencies, university researchers, and citizen scientists. This database is one of the largest andmost comprehensive databases of its type because it includes both in situmeasurements and ecological context data. Because ecological context can be used to study a variety of other questions about lakes, streams, and wetlands, this database can also be used as the foundation for other studies of freshwaters at broad spatial and ecological scales
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| 4. |
- Henning, Th., et al.
(författare)
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HATS-50b through HATS-53b : Four Transiting Hot Jupiters Orbiting G-type Stars Discovered by the HATSouth Survey
- 2018
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Ingår i: Astronomical Journal. - : American Astronomical Society. - 0004-6256 .- 1538-3881. ; 155:2
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Tidskriftsartikel (refereegranskat)abstract
- We report the discovery of four close-in transiting exoplanets (HATS-50b through HATS-53b), discovered using the HATSouth three-continent network of homogeneous and automated telescopes. These new exoplanets belong to the class of hot Jupiters and orbit G-type dwarf stars, with brightness in the range V = 12.5-14.0 mag. While HATS-53 has many physical characteristics similar to the Sun, the other three stars appear to be metal-rich ([Fe/H]= 0.2-0.3), larger, and more massive. Three of the new exoplanets, namely HATS-50b, HATS-51b, and HATS-53b, have low density (HATS-50b: 0.39 +/- 0.10 M-J, 1.130 +/- 0.075 R-J; HATS-51b: 0.768 +/- 0.045 M-J, 1.41 +/- 0.19 R-J; HATS-53b: 0.595 +/- 0.089 M-J, 1.340 +/- 0.056 R-J) and similar orbital periods (3.8297 days, 3.3489 days, 3.8538 days, respectively). Instead, HATS-52b is more dense (mass 2.24. +/- 0.15 M-J and radius 1.382 +/- 0.086 R-J) and has a shorter orbital period (1.3667 days). It also receives an intensive radiation from its parent star and, consequently, presents a high equilibrium temperature (T-eq = 1834 +/- 73 K). HATS-50 shows a marginal additional transit feature consistent with an ultra-short-period hot super Neptune (upper mass limit 0.16 M-J), which will be able to be confirmed with TESS photometry.
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| 5. |
- Santee, M.L., et al.
(författare)
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Validation of the Aura Microwave Limb Sounder HNO3 Measurements
- 2007
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Ingår i: Journal of Geophysical Research. - 0148-0227 .- 2156-2202. ; 112:D24
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Tidskriftsartikel (refereegranskat)abstract
- [1] We assess the quality of the version 2.2 (v2.2) HNO(3) measurements from the Microwave Limb Sounder (MLS) on the Earth Observing System Aura satellite. The MLS HNO(3) product has been greatly improved over that in the previous version (v1.5), with smoother profiles, much more realistic behavior at the lowest retrieval levels, and correction of a high bias caused by an error in one of the spectroscopy files used in v1.5 processing. The v2.2 HNO(3) data are scientifically useful over the range 215 to 3.2 hPa, with single-profile precision of similar to 0.7 ppbv throughout. Vertical resolution is 3-4 km in the upper troposphere and lower stratosphere, degrading to similar to 5 km in the middle and upper stratosphere. The impact of various sources of systematic uncertainty has been quantified through a comprehensive set of retrieval simulations. In aggregate, systematic uncertainties are estimated to induce in the v2.2 HNO(3) measurements biases that vary with altitude between +/- 0.5 and +/- 2 ppbv and multiplicative errors of +/- 5-15% throughout the stratosphere, rising to similar to +/- 30% at 215 hPa. Consistent with this uncertainty analysis, comparisons with correlative data sets show that relative to HNO(3) measurements from ground- based, balloon- borne, and satellite instruments operating in both the infrared and microwave regions of the spectrum, MLS v2.2 HNO(3) mixing ratios are uniformly low by 10-30% throughout most of the stratosphere. Comparisons with in situ measurements made from the DC-8 and WB-57 aircraft in the upper troposphere and lowermost stratosphere indicate that the MLS HNO(3) values are low in this region as well, but are useful for scientific studies (with appropriate averaging).
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| 6. |
- Li, Jian-Liang, et al.
(författare)
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A genome scan for modifiers of age at onset in Huntington disease : The HD MAPS study.
- 2003
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 73:3, s. 682-7
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Tidskriftsartikel (refereegranskat)abstract
- Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at onset is strongly heritable (h2=0.56), which suggests that other genes modify the age at onset of HD. To identify these modifier loci, we performed a 10-cM density genomewide scan in 629 affected sibling pairs (295 pedigrees and 695 individuals), using ages at onset adjusted for the expanded and normal CAG repeat sizes. Because all those studied were HD affected, estimates of allele sharing identical by descent at and around the HD locus were adjusted by a positionally weighted method to correct for the increased allele sharing at 4p. Suggestive evidence for linkage was found at 4p16 (LOD=1.93), 6p21-23 (LOD=2.29), and 6q24-26 (LOD=2.28), which may be useful for investigation of genes that modify age at onset of HD.
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| 7. |
- Villarroel, Brian, et al.
(författare)
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The VASCO project : 100 red transients and their follow up
- 2020
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Ingår i: Proceedings of the International Astronautical Congress, IAC. - : International Astronautical Federation, IAF.
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Konferensbidrag (refereegranskat)abstract
- The Vanishing & Appearing Sources during a Century of Observations (VASCO) project investigates astronomical surveys spanning a 70 years time interval, searching for unusual and exotic transients. We present herein the VASCO Citizen Science Project, that uses three different approaches to the identification of unusual transients in a given set of candidates: hypothesis-driven, exploratory-driven and machine learning-driven (which is of particular benefit for SETI searches). To address the big data challenge, VASCO combines methods from the Virtual Observatory, a user-aided machine learning and visual inspection through citizen science. In this article, we demonstrate the citizen science project, the new and improved candidate selection process and give a progress report. We also present the VASCO citizen science network led by amateur astronomy associations mainly located in Algeria, Cameroon and Nigeria. At the moment of writing, the citizen science project has carefully examined 12,000 candidate image pairs in the data, and has so far identified 713 objects classified as “vanished”. The most interesting candidates will be followed up with optical and infrared imaging, together with the observations by the most potent radio telescopes.
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| 8. |
- Wright, J. T., et al.
(författare)
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The Exoplanet Orbit Database
- 2011
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Ingår i: Publications of the Astronomical Society of the Pacific. - 0004-6280 .- 1538-3873. ; 123:902, s. 412-422
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Tidskriftsartikel (refereegranskat)abstract
- We present a database of well-determined orbital parameters of exoplanets, and their host stars' properties. This database comprises spectroscopic orbital elements measured for 427 planets orbiting 363 stars from radial velocity and transit measurements as reported in the literature. We have also compiled fundamental transit parameters, stellar parameters, and the method used for the planets discovery. This Exoplanet Orbit Database includes all planets with robust, well measured orbital parameters reported in peer-reviewed articles. The database is available in a searchable, filterable, and sortable form online through the Exoplanets Data Explorer table, and the data can be plotted and explored through the Exoplanet Data Explorer plotter. We use the Data Explorer to generate publication-ready plots, giving three examples of the signatures of exoplanet migration and dynamical evolution: We illustrate the character of the apparent con-elation between mass and period in exoplanet orbits, the different selection biases between radial velocity and transit surveys, and that the multiplanet systems show a distinct semimajor-axis distribution from apparently singleton systems.
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| 9. |
- Djoussé, Luc, et al.
(författare)
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Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16.
- 2004
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Ingår i: Neurogenetics. - : Springer Science and Business Media LLC. - 1364-6745 .- 1364-6753. ; 5:2, s. 109-14
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Tidskriftsartikel (refereegranskat)abstract
- Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. A recent genome scan for genetic modifiers of age at onset of motor symptoms (AO) in HD suggests that one modifier may reside in the region close to the HD gene itself. We used data from 535 HD participants of the New England Huntington cohort and the HD MAPS cohort to assess whether AO was influenced by any of the three markers in the 4p16 region: MSX1 (Drosophila homeo box homologue 1, formerly known as homeo box 7, HOX7), Delta2642 (within the HD coding sequence), and BJ56 ( D4S127). Suggestive evidence for an association was seen between MSX1 alleles and AO, after adjustment for normal CAG repeat, expanded repeat, and their product term (model P value 0.079). Of the variance of AO that was not accounted for by HD and normal CAG repeats, 0.8% could be attributed to the MSX1 genotype. Individuals with MSX1 genotype 3/3 tended to have younger AO. No association was found between Delta2642 (P=0.44) and BJ56 (P=0.73) and AO. This study supports previous studies suggesting that there may be a significant genetic modifier for AO in HD in the 4p16 region. Furthermore, the modifier may be present on both HD and normal chromosomes bearing the 3 allele of the MSX1 marker.
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| 10. |
- Hugot, JP, et al.
(författare)
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Clustering of Crohn's disease within affected sibships
- 2003
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 11:2, s. 179-184
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Tidskriftsartikel (refereegranskat)abstract
- Crohn's disease (CD) is a complex genetic disorder for which aetiology is unknown. Recently, genetic factors for susceptibility have been described. Several genetic loci have been mapped and partially explain the familial aggregations of the disease. However, environmental factors may also contribute to these aggregations. We considered that if the role of non-genetic factors was negligible, CD patients would be randomly distributed in sibships with multiple affected siblings. On the other hand if there was a significant environmental contribution, the siblings would be affected non-randomly over exposure status. In order to test this hypothesis, we studied 102 sibships with two or more affected siblings. A statistical test, named Cluster of Affected Sibling Test or CAST, was developed, based on the exact calculation of the probability of observing a given number of clusters of affected siblings in multiplex families. The null hypothesis of a random distribution of affected siblings was rejected (P=0,005). The observed excess of affected sibling clusters indicates that birth order influences the disease status. Considering that an adjacent order of birth is a global estimate of environmental sharing, this observation strongly suggests that environmental factors contribute to the observed familial aggregations of the disease. This observation provides evidence that familial CD is a relevant tool for further studies of environmental factors and gene-environment interaction. More generally, the CAST statistics may be widely applicable to estimate the involvement of environmental factors in the aetiology of other binary traits which may be observed in multiple members of the same sibship.
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| 11. |
- Nepomuceno, Thales C., et al.
(författare)
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BRCA1 frameshift variants leading to extended incorrect protein C termini
- 2023
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Ingår i: Human Genetics and Genomics Advances. - : Elsevier. - 2666-2477. ; 4:4
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Tidskriftsartikel (refereegranskat)abstract
- Carriers of BRCA1 germline pathogenic variants are at substantially higher risk of developing breast and ovarian cancer than the general population. Accurate identification of at-risk individuals is crucial for risk stratification and the implementation of targeted preventive and therapeutic interventions. Despite significant progress in variant classification efforts, a sizable portion of reported BRCA1 variants remain as variants of uncertain clinical significance (VUSs). Variants leading to premature protein termination and loss of essential functional domains are typically classified as pathogenic. However, the impact of frameshift variants that result in an extended incorrect terminus is not clear. Using validated functional assays, we conducted a systematic functional assessment of 17 previously reported BRCA1 extended incorrect terminus variants (EITs) and concluded that 16 constitute loss-of-function variants. This suggests that most EITs are likely to be pathogenic. However, one variant, c.5578dup, displayed a protein expression level, affinity to known binding partners, and activity in transcription and homologous recombination assays comparable to the wild-type BRCA1 protein. Twenty-three additional carriers of c.5578dup were identified at a US clinical diagnostic lab and assessed using a family history likelihood model providing, in combination with the functional data, a likely benign interpretation. These results, consistent with family history data in the current study and available data from ClinVar, indicate that most, but not all, BRCA1 variants leading to an extended incorrect terminus constitute loss-of-function variants and underscore the need for comprehensive assessment of individual variants.
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| 12. |
- Niu, Shuli, et al.
(författare)
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Thermal optimality of net ecosystem exchange of carbon dioxide and underlying mechanisms.
- 2012
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Ingår i: New Phytologist. - : Wiley. - 1469-8137 .- 0028-646X. ; 194:3, s. 775-783
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Tidskriftsartikel (refereegranskat)abstract
- • It is well established that individual organisms can acclimate and adapt to temperature to optimize their functioning. However, thermal optimization of ecosystems, as an assemblage of organisms, has not been examined at broad spatial and temporal scales. • Here, we compiled data from 169 globally distributed sites of eddy covariance and quantified the temperature response functions of net ecosystem exchange (NEE), an ecosystem-level property, to determine whether NEE shows thermal optimality and to explore the underlying mechanisms. • We found that the temperature response of NEE followed a peak curve, with the optimum temperature (corresponding to the maximum magnitude of NEE) being positively correlated with annual mean temperature over years and across sites. Shifts of the optimum temperature of NEE were mostly a result of temperature acclimation of gross primary productivity (upward shift of optimum temperature) rather than changes in the temperature sensitivity of ecosystem respiration. • Ecosystem-level thermal optimality is a newly revealed ecosystem property, presumably reflecting associated evolutionary adaptation of organisms within ecosystems, and has the potential to significantly regulate ecosystem-climate change feedbacks. The thermal optimality of NEE has implications for understanding fundamental properties of ecosystems in changing environments and benchmarking global models.
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| 13. |
- Buchhave, Lars A., et al.
(författare)
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An abundance of small exoplanets around stars with a wide range of metallicities
- 2012
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 486:7403, s. 375-377
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Tidskriftsartikel (refereegranskat)abstract
- The abundance of heavy elements (metallicity) in the photospheres of stars similar to the Sun provides a 'fossil' record of the chemical composition of the initial protoplanetary disk. Metal-rich stars are much more likely to harbour gas giant planets(1-4), supporting the model that planets form by accumulation of dust and ice particles(5). Recent ground-based surveys suggest that this correlation is weakened for Neptunian-sized planets(4,6-9). However, how the relationship between size and metallicity extends into the regime of terrestrial-sized exoplanets is unknown. Here we report spectroscopic metallicities of the host stars of 226 small exoplanet candidates discovered by NASA's Kepler mission(10), including objects that are comparable in size to the terrestrial planets in the Solar System. We find that planets with radii less than four Earth radii form around host stars with a wide range of metallicities (but on average a metallicity close to that of the Sun), whereas large planets preferentially form around stars with higher metallicities. This observation suggests that terrestrial planets may be widespread in the disk of the Galaxy, with no special requirement of enhanced metallicity for their formation.
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| 14. |
- Dahlin, Andreas, 1980, et al.
(författare)
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Electrochemical plasmonic sensors
- 2012
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Ingår i: Analytical and Bioanalytical Chemistry. - : Springer Science and Business Media LLC. - 1618-2642 .- 1618-2650. ; 402:5, s. 1773-1784
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Forskningsöversikt (refereegranskat)abstract
- The enormous progress of nanotechnology during the last decade has made it possible to fabricate a great variety of nanostructures. On the nanoscale, metals exhibit special electrical and optical properties, which can be utilized for novel applications. In particular, plasmonic sensors including both the established technique of surface plasmon resonance and more recent nanoplasmonic sensors, have recently attracted much attention. However, some of the simplest and most successful sensors, such as the glucose biosensor, are based on electrical readout. In this review we describe the implementation of electrochemistry with plasmonic nanostructures for combined electrical and optical signal transduction. We highlight results from different types of metallic nanostructures such as nanoparticles, nanowires, nanoholes or simply films of nanoscale thickness. We briefly give an overview of their optical properties and discuss implementation of electrochemical methods. In particular, we review studies on how electrochemical potentials influence the plasmon resonances in different nanostructures, as this type of fundamental understanding is necessary for successful combination of the methods. Although several combined platforms exist, many are not yet in use as sensors partly because of the complicated effects from electrochemical potentials on plasmon resonances. Yet, there are clearly promising aspects of these sensor combinations and we conclude this review by discussing the advantages of synchronized electrical and optical readout, illustrating the versatility of these technologies.
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| 15. |
- Fischer, Debra A., et al.
(författare)
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M2K. II. A Triple-Planet System Orbiting Hip 57274
- 2012
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 745:1, s. 21-
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Tidskriftsartikel (refereegranskat)abstract
- Doppler observations from Keck Observatory have revealed a triple-planet system orbiting the nearby K4V star, HIP 57274. The inner planet, HIP 57274b, is a super-Earth with M sin i = 11.6 M-circle plus (0.036 M-Jup), an orbital period of 8.135 +/- 0.004 days, and slightly eccentric orbit e = 0.19 +/- 0.1. We calculate a transit probability of 6.5% for the inner planet. The second planet has M sin i = 0.4 M-Jup with an orbital period of 32.0 +/- 0.02 days in a nearly circular orbit (e = 0.05 +/- 0.03). The third planet has M sin i = 0.53 M-Jup with an orbital period of 432 +/- 8 days (1.18 years) and an eccentricity e = 0.23 +/- 0.03. This discovery adds to the number of super-Earth mass planets with M sin i < 12 M-circle plus that have been detected with Doppler surveys. We find that 56% +/- 18% of super-Earths are members of multi-planet systems. This is certainly a lower limit because of observational detectability limits, yet significantly higher than the fraction of Jupiter mass exoplanets, 20% +/- 8%, that are members of Doppler-detected, multi-planet systems.
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| 16. |
- Howard, Andrew W., et al.
(författare)
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THE NASA-UC ETA-EARTH PROGRAM : I. A SUPER-EARTH ORBITING HD 7924
- 2009
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 696:1, s. 75-83
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Tidskriftsartikel (refereegranskat)abstract
- We report the discovery of the first low-mass planet to emerge from the NASA-UC Eta-Earth Program, a super-Earth orbiting the K0 dwarf HD 7924. Keplerian modeling of precise Doppler radial velocities reveals a planet with minimum mass M-P sin i = 9.26M(circle plus) in a P = 5.398 d orbit. Based on Keck-HIRES measurements from 2001 to 2008, the planet is robustly detected with an estimated false alarm probability of less than 0.001. Photometric observations using the Automated Photometric Telescopes at Fairborn Observatory show that HD 7924 is photometrically constant over the radial velocity period to 0.19 mmag, supporting the existence of the planetary companion. No transits were detected down to a photometric limit of similar to 0.5 mmag, eliminating transiting planets with a variety of compositions. HD 7924b is one of only eight planets detected by the radial velocity technique with M-P sini < 10 M-circle plus and as such is a member of an emerging family of low-mass planets that together constrain theories of planet formation.
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| 17. |
- Prasanna, Pataje G. S., et al.
(författare)
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Synopsis of partial-body radiation diagnostic biomarkers and medical management of radiation injury workshop
- 2010
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Ingår i: Radiation Research. - 0033-7587 .- 1938-5404. ; 173:2, s. 245-53
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Tidskriftsartikel (refereegranskat)abstract
- Radiation exposures from accidents, nuclear detonations or terrorist incidents are unlikely to be homogeneous; however, current biodosimetric approaches are developed and validated primarily in whole-body irradiation models. A workshop was held at the Armed Forces Radiobiology Research Institute in May 2008 to draw attention to the need for partial-body biodosimetry, to discuss current knowledge, and to identify the gaps to be filled. A panel of international experts and the workshop attendees discussed the requirements and concepts for a path forward. This report addresses eight key areas identified by the Workshop Program Committee for future focus: (1) improved cytogenetics, (2) clinical signs and symptoms, (3) cutaneous bioindicators, (4) organ-specific biomarkers, (5) biophysical markers of dose, (6) integrated diagnostic approaches, (7) confounding factors, and (8) requirements for post-event medical follow-up. For each area, the status, advantages and limitations of existing approaches and suggestions for new directions are presented.
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| 18. |
- Villarroel, Beatriz, et al.
(författare)
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Launching the VASCO Citizen Science Project
- 2022
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Ingår i: Universe. - : MDPI AG. - 2218-1997. ; 8:11, s. 561-
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Tidskriftsartikel (refereegranskat)abstract
- The Vanishing & Appearing Sources during a Century of Observations (VASCO) project investigates astronomical surveys spanning a time interval of 70 years, searching for unusual and exotic transients. We present herein the VASCO Citizen Science Project, which can identify unusual candidates driven by three different approaches: hypothesis, exploratory, and machine learning, which is particularly useful for SETI searches. To address the big data challenge, VASCO combines three methods: the Virtual Observatory, user-aided machine learning, and visual inspection through citizen science. Here we demonstrate the citizen science project and its improved candidate selection process, and we give a progress report. We also present the VASCO citizen science network led by amateur astronomy associations mainly located in Algeria, Cameroon, and Nigeria. At the moment of writing, the citizen science project has carefully examined 15,593 candidate image pairs in the data (ca. 10% of the candidates), and has so far identified 798 objects classified as "vanished". The most interesting candidates will be followed up with optical and infrared imaging, together with the observations by the most potent radio telescopes.
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