| 1. |
- Arndt, D. S., et al.
(författare)
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STATE OF THE CLIMATE IN 2017
- 2018
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Ingår i: Bulletin of The American Meteorological Society - (BAMS). - : American Meteorological Society. - 0003-0007 .- 1520-0477. ; 99:8, s. S1-S310
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Forskningsöversikt (refereegranskat)
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| 2. |
- Blauw, Hylke M, et al.
(författare)
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A large genome scan for rare CNVs in amyotrophic lateral sclerosis
- 2010
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Ingår i: Human Molecular Genetics. - : Oxford Journals. - 0964-6906 .- 1460-2083. ; 19:20, s. 4091-4099
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Tidskriftsartikel (refereegranskat)abstract
- Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease selectively affecting motor neurons in the brain and spinal cord. Recent genome-wide association studies (GWASs) have identified several common variants which increase disease susceptibility. In contrast, rare copy-number variants (CNVs), which have been associated with several neuropsychiatric traits, have not been studied for ALS in well-powered study populations. To examine the role of rare CNVs in ALS susceptibility, we conducted a CNV association study including over 19,000 individuals. In a genome-wide screen of 1875 cases and 8731 controls, we did not find evidence for a difference in global CNV burden between cases and controls. In our association analyses, we identified two loci that met our criteria for follow-up: the DPP6 locus (OR = 3.59, P = 6.6 × 10(-3)), which has already been implicated in ALS pathogenesis, and the 15q11.2 locus, containing NIPA1 (OR = 12.46, P = 9.3 × 10(-5)), the gene causing hereditary spastic paraparesis type 6 (HSP 6). We tested these loci in a replication cohort of 2559 cases and 5887 controls. Again, results were suggestive of association, but did not meet our criteria for independent replication: DPP6 locus: OR = 1.92, P = 0.097, pooled results: OR = 2.64, P = 1.4 × 10(-3); NIPA1: OR = 3.23, P = 0.041, pooled results: OR = 6.20, P = 2.2 × 10(-5)). Our results highlight DPP6 and NIPA1 as candidates for more in-depth studies. Unlike other complex neurological and psychiatric traits, rare CNVs with high effect size do not play a major role in ALS pathogenesis.
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| 3. |
- Buehlmann, Cornelia, et al.
(författare)
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Impact of central complex lesions on innate and learnt visual navigation in ants
- 2023
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Ingår i: Journal of Comparative Physiology A: Neuroethology, Sensory, Neural, and Behavioral Physiology. - : Springer Science and Business Media LLC. - 0340-7594. ; 209:4, s. 737-746
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Tidskriftsartikel (refereegranskat)abstract
- Wood ants are excellent navigators, using a combination of innate and learnt navigational strategies to travel between their nest and feeding sites. Visual navigation in ants has been studied extensively, however, we have little direct evidence for the underlying neural mechanisms. Here, we perform lateralized mechanical lesions in the central complex (CX) of wood ants, a midline structure known to allow an insect to keep track of the direction of sensory cues relative to its own orientation and to control movement. We lesioned two groups of ants and observed their behaviour in an arena with a large visual landmark present. The first group of ants were naïve and when intact such ants show a clear innate attraction to the conspicuous landmark. The second group of ants were trained to aim to a food location to the side of the landmark. The general heading of naïve ants towards a visual cue was not altered by the lesions, but the heading of ants trained to a landmark adjacent food position was affected. Thus, CX lesions had a specific impact on learnt visual guidance. We also observed that lateralised lesions altered the fine details of turning with lesioned ants spending less time turning to the side ipsilateral of the lesion. The results confirm the role of the CX in turn control and highlight its important role in the implementation of learnt behaviours that rely on information from other brain regions.
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| 4. |
- Christensson, Anders, et al.
(författare)
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Association of cancer with moderately impaired renal function at baseline in a large, representative, population-based cohort followed for up to 30 years.
- 2013
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Ingår i: International Journal of Cancer. - : Wiley. - 0020-7136. ; 133:6, s. 1452-1458
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Tidskriftsartikel (refereegranskat)abstract
- Patients with chronic renal failure show a greater incidence of malignancies. We evaluated whether moderately impaired renal function at baseline influenced risk of all cancers during long-term follow in young persons. Our cohort included 33,346 subjects, aged 26-61 years at baseline, in a representative, population-based study enrolling subjects from 1974 to 1992. Median follow-up time was 28 years. Plasma creatinine was analysed as a single measure at baseline. Incident cases of cancer were identified from the Swedish Cancer Registry. We studied 24,552 subjects from the cohort. To account for the unique sampling design, participants were divided by sex and age at baseline into 1,132 older men (age 60), 14,254 younger men (age 40-52), 7,498 older women (age 47-57) and 1,688 younger women (age 35-43). Glomerular filtration rate (GFR) was estimated using the CKD-EPI formula. Patients were classified as having either normal to mildly impaired kidney function (eGFR≥60 mL/min/1.73m(2) ), or moderate kidney dysfunction (eGFR<60 mL/min/1.73m(2) ). We calculated the risk of all cancers using competing risks regression. Overall, 6,595 participants were diagnosed with cancer, and 854 subjects (3.5%) had moderately impaired renal dysfunction at baseline. There was a significant association between moderately decreased GFR and subsequent risk of kidney cancer in younger men (hazard ratio, 3.38; 95% CI, 1.48 to 7.71; P=0.004). However, we found no association with overall long-term cancer risk. Our confirmation of an association between moderately impaired renal function and risk of kidney cancer in younger men requires further exploration of high-risk groups and biological mechanisms. © 2013 Wiley Periodicals, Inc.
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| 5. |
- Cronin, Meghan F., et al.
(författare)
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Air-sea fluxes with a focus on heat and momentum
- 2019
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Ingår i: Frontiers in Marine Science. - : Frontiers Media SA. - 2296-7745. ; 6
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Tidskriftsartikel (refereegranskat)abstract
- © 2019 Cronin, Gentemann, Edson, Ueki, Bourassa, Brown, Clayson, Fairall, Farrar, Gille, Gulev, Josey, Kato, Katsumata, Kent, Krug, Minnett, Parfitt, Pinker, Stackhouse, Swart, Tomita, Vandemark, Weller, Yoneyama, Yu and Zhang. Turbulent and radiative exchanges of heat between the ocean and atmosphere (hereafter heat fluxes), ocean surface wind stress, and state variables used to estimate them, are Essential Ocean Variables (EOVs) and Essential Climate Variables (ECVs) influencing weather and climate. This paper describes an observational strategy for producing 3-hourly, 25-km (and an aspirational goal of hourly at 10-km) heat flux and wind stress fields over the global, ice-free ocean with breakthrough 1-day random uncertainty of 15 W m-2 and a bias of less than 5 W m-2. At present this accuracy target is met only at OceanSITES reference station moorings and research vessels (RVs) that follow best practices. To meet these targets globally, in the next decade, satellite-based observations must be optimized for boundary layer measurements of air temperature, humidity, sea surface temperature, and ocean wind stress. In order to tune and validate these satellite measurements, a complementary global in situ flux array, built around an expanded OceanSITES network of time series reference station moorings, is also needed. The array would include 500 - 1000 measurement platforms, including autonomous surface vehicles, moored and drifting buoys, RVs, the existing OceanSITES network of 22 flux sites, and new OceanSITES expanded in 19 key regions. This array would be globally distributed, with 1 - 3 measurement platforms in each nominal 10° by 10° boxes. These improved moisture and temperature profiles and surface data, if assimilated into Numerical Weather Prediction (NWP) models, would lead to better representation of cloud formation processes, improving state variables and surface radiative and turbulent fluxes from these models. The in situ flux array provides globally distributed measurements and metrics for satellite algorithm development, product validation, and for improving satellite-based, NWP and blended flux products. In addition, some of these flux platforms will also measure direct turbulent fluxes, which can be used to improve algorithms for computation of air-sea exchange of heat and momentum in flux products and models. With these improved air-sea fluxes, the ocean's influence on the atmosphere will be better quantified and lead to improved long-term weather forecasts, seasonal-interannual-decadal climate predictions, and regional climate projections.
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| 6. |
- Neely, G Gregory, et al.
(författare)
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A Genome-wide Drosophila Screen for Heat Nociception Identifies alpha 2 delta 3 as an Evolutionarily Conserved Pain Gene
- 2010
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Ingår i: Cell. - : Elsevier Science B.V., Amsterdam.. - 0092-8674 .- 1097-4172. ; 143:4, s. 628-638
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Tidskriftsartikel (refereegranskat)abstract
- Worldwide, acute, and chronic pain affects 20% of the adult population and represents an enormous financial and emotional burden. Using genome-wide neuronal-specific RNAi knockdown in Drosophila, we report a global screen for an innate behavior and identify hundreds of genes implicated in heat nociception, including the alpha 2 delta family calcium channel subunit straightjacket (stj). Mice mutant for the stj ortholog CACNA2D3 (alpha 2 delta 3) also exhibit impaired behavioral heat pain sensitivity. In addition, in humans, alpha 2 delta 3 SNP variants associate with reduced sensitivity to acute noxious heat and chronic back pain. Functional imaging in alpha 2 delta 3 mutant mice revealed impaired transmission of thermal pain-evoked signals from the thalamus to higher-order pain centers. Intriguingly, in alpha 2 delta 3 mutant mice, thermal pain and tactile stimulation triggered strong cross-activation, or synesthesia, of brain regions involved in vision, olfaction, and hearing.
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| 7. |
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| 8. |
- Van Es, Michael A, et al.
(författare)
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Analysis of FGGY as a risk factor for sporadic amyotrophic lateral sclerosis
- 2009
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Ingår i: Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders. - : Informa UK Limited. - 1466-0822 .- 1743-4483. ; 10:5-6, s. 441-447
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Tidskriftsartikel (refereegranskat)abstract
- A genome-wide association study (GWAS) using pooled DNA samples from 386 sporadic ALS patients and 542 controls from the USA, identified genetic variation in FGGY (FLJ10986) as a risk factor, as well as 66 additional candidate SNPs. Considering the large number of hypotheses that are tested in GWAS, independent replication of associations is crucial for identifying true-positive genetic risk factors for disease. The primary aim of this study was to study the association between FGGY and sporadic ALS in large, homogeneous populations from northern Europe. Genotyping experiments were performed using Illumina Beadchips, Sequenom iPLEX assays and Taqman technology on large case-control series from The Netherlands, Belgium, Sweden and Ireland (total: 1883 sporadic ALS patients and 2063 controls). No significant association between sporadic ALS and the six previously reported associated SNPs in FGGY was observed: rs6700125 (p =0.56), rs6690993 (p =0.30), rs10493256 (p =0.68), rs6587852 (p =0.64), rs1470407 (p =0.28) and rs333662 (p =0.44). Screening of the additional candidate loci did not yield significant associations either, with the lowest p-value in joint analysis for rs7772593 (p =0.14). We concluded that common genetic variation in FGGY is not associated with susceptibility to sporadic ALS in genetically homogeneous populations from northern Europe.
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| 9. |
- van Es, Michael A, et al.
(författare)
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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
- 2009
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 41:10, s. 1083-1087
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Tidskriftsartikel (refereegranskat)abstract
- We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 x 10(-4) in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 x 10(-9). This SNP showed robust replication in the second cohort (P = 1.86 x 10(-6)), and a combined analysis over the two stages yielded P = 2.53 x 10(-14). The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 x 10(-9), and rs3849942, with P = 1.01 x 10(-8)) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
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| 10. |
- Wang, Page I., et al.
(författare)
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Perfusion-weighted MR Imaging in Cerebral Lupus Erythematosus
- 2012
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Ingår i: Academic Radiology. - : Elsevier BV. - 1878-4046 .- 1076-6332. ; 19:8, s. 965-970
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Tidskriftsartikel (refereegranskat)abstract
- Rationale and Objective: Neuropsychiatric systemic lupus erythematosus (NPSLE) is a diagnostically challenging, severe, and life-threatening condition, which is currently lacking a "gold standard." Our aim with this study is to look for magnetic resonance (MR) perfusion differences in NPSLE, SLE, and healthy control (HC) patients and correlate our findings with clinical parameters. Materials and Methods: Twenty-four NPSLE patients, 21 SLE patients, and 21 HC underwent dynamic susceptibility contrast enhanced MR perfusion using a 3-T scanner. Nine prospectively selected intracranial regions of interest were placed in white and gray matter and the cerebral blood flow (CBF), cerebral blood volume (CBV), and mean transit time (MU) values were calculated. Subjects underwent clinical evaluation with SLEDAI and serum antibodies. Results: The SLE patients had higher CBF and CBV compared to the HC overall (P =.01) and in specific areas (P =.03-.048). SLE patients with signs of active disease (elevated SLEDAI and anti-double-stranded DNA) had significantly elevated CBV, CBF, and MU in the posterior cingulate gyrus (P =.01-.02). No significant difference was seen in the magnetic resonance perfusion measurements of NPSLE patients compared to SLE and HC, although the NPSLE patients also showed higher CBV variability compared to the SLE (P =.0004) and HC cohort (P <.0001). Conclusion: SLE patients have increased CBV and CBF compared to healthy controls. The SLE patients with clinical markers for active disease have elevated CBV, CBF, and MU in the posterior cingulate gyrus. NPSLE patients show increased variability in perfusion measurements, which may explain why susceptibility contrast enhanced MRI has not yet provided a specific target for NPSLE.
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