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Sökning: WFRF:(Maier Wolfgang)

  • Resultat 1-10 av 29
  • [1]23Nästa
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1.
  • de Jong, Simone, et al. (författare)
  • Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder
  • 2018
  • Ingår i: Communications Biology. - Nature Publishing Group. - 2399-3642. ; 1
  • Tidskriftsartikel (refereegranskat)abstract
    • Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generations. This may explain the observation of anticipation in mood disorders, whereby onset is earlier and the severity increases over the generations of a family. Joint analyses of rare and common variation may be a powerful way to understand the familial genetics of psychiatric disorders.
2.
  • Seddah, Djamé, et al. (författare)
  • Overview of the SPMRL 2013 Shared Task : A Cross-Framework Evaluation of Parsing Morphologically Rich Languages
  • 2013
  • Ingår i: Proceedings of the Fourth Workshop on Statistical Parsing of Morphologically Rich Languages. - Association for Computational Linguistics. - 978-1-937284-97-8 ; s. 146-182
  • Konferensbidrag (övrigt vetenskapligt)abstract
    • This paper reports on the first shared task on statistical parsing of morphologically rich languages (MRLs). The task features data sets from nine languages, each available both in constituency and dependency annotation. We report on the preparation of the data sets, on the proposed parsing scenarios, and on the evaluation metrics for parsing MRLs given different representation types. We present and analyze parsing results obtained by the task participants, and then provide an analysis and comparison of the parsers across languages and frameworks, reported for gold input as well as more realistic parsing scenarios.
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3.
  • Agarwal, Girish, et al. (författare)
  • Light, the universe and everything-12 Herculean tasks for quantum cowboys and black diamond skiers
  • 2018
  • Ingår i: Journal of Modern Optics. - 0950-0340. ; 65:11, s. 1261-1308
  • Tidskriftsartikel (refereegranskat)abstract
    • The Winter Colloquium on the Physics of Quantum Electronics (PQE) has been a seminal force in quantum optics and related areas since 1971. It is rather mind-boggling to recognize how the concepts presented at these conferences have transformed scientific understanding and human society. In January 2017, the participants of PQE were asked to consider the equally important prospects for the future, and to formulate a set of questions representing some of the greatest aspirations in this broad field. The result is this multi-authored paper, in which many of the world's leading experts address the following fundamental questions: (1) What is the future of gravitational wave astronomy? (2) Are there new quantum phases of matter away from equilibrium that can be found and exploited - such as the time crystal? (3) Quantum theory in uncharted territory: What can we learn? (4) What are the ultimate limits for laser photon energies? (5) What are the ultimate limits to temporal, spatial and optical resolution? (6) What novel roles will atoms play in technology? (7) What applications lie ahead for nitrogen-vacancy centres in diamond? (8) What is the future of quantum coherence, squeezing and entanglement for enhanced super-resolution and sensing? (9) How can we solve (some of) humanity's biggest problems through new quantum technologies? (10) What new understanding of materials and biological molecules will result from their dynamical characterization with free-electron lasers? (11) What new technologies and fundamental discoveries might quantum optics achieve by the end of this century? (12) What novel topological structures can be created and employed in quantum optics?
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4.
  • Bajbouj, Malek, et al. (författare)
  • Two-year outcome of vagus nerve stimulation in treatment-resistant depression
  • 2010
  • Ingår i: Journal of Clinical Psychopharmacology. - Lippincott Williams & Wilkins. - 0271-0749. ; 30:3, s. 273-281
  • Tidskriftsartikel (refereegranskat)abstract
    • One of the major goals of antidepressant treatment is a sustained response and remission of depressive symptoms. Some of the previous studies of vagus nerve stimulation (VNS) have suggested antidepressant effects. Our naturalistic study assessed the efficacy and the safety of VNS in 74 European patients with therapy-resistant major depressive disorder. Psychometric measures were obtained after 3, 12, and 24 months of VNS. Mixed-model repeated-measures analysis of variance revealed a significant reduction (P < or = 0.05) at all the 3 time points in the 28-item Hamilton Rating Scale for Depression (HRSD28) score, the primary outcome measure. After 2 years, 53.1% (26/49) of the patients fulfilled the response criteria (> or =50% reduction in the HRSD28 scores from baseline) and 38.9% (19/49) fulfilled the remission criteria (HRSD28 scores < or = 10). The proportion of patients who fulfilled the remission criteria remained constant as the duration of VNS treatment increased. Voice alteration, cough, and pain were the most frequently reported adverse effects. Two patients committed suicide during the study; no other deaths were reported. No statistically significant differences were seen in the number of concomitant antidepressant medications. The results of this 2-year open-label trial suggest a clinical response and a comparatively benign adverse effect profile among patients with treatment-resistant depression.
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5.
  • Begerow, D., et al. (författare)
  • Current state and perspectives of fungal DNA barcoding and rapid identification procedures
  • 2010
  • Ingår i: Applied Microbiology and Biotechnology. - 0175-7598. ; 87:1, s. 99-108
  • Forskningsöversikt (refereegranskat)abstract
    • Fungal research is experiencing a new wave of methodological improvements that most probably will boost mycology as profoundly as molecular phylogeny has done during the last 15 years. Especially the next generation sequencing technologies can be expected to have a tremendous effect on fungal biodiversity and ecology research. In order to realise the full potential of these exciting techniques by accelerating biodiversity assessments, identification procedures of fungi need to be adapted to the emerging demands of modern large-scale ecological studies. But how should fungal species be identified in the near future? While the answer might seem trivial to most microbiologists, taxonomists working with fungi may have other views. In the present review, we will analyse the state of the art of the so-called barcoding initiatives in the light of fungi, and we will seek to evaluate emerging trends in the field. We will furthermore demonstrate that the usability of DNA barcoding as a major tool for identification of fungi largely depends on the development of high-quality sequence databases that are thoroughly curated by taxonomists and systematists.
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6.
  • Bjärnborg, Karolina, et al. (författare)
  • Geochronology and geochemical evidence for a magmatic arc setting for the Ni-Cu mineralised 1.79Ga Kleva gabbro-diorite intrusive complex, southeast Sweden
  • 2015
  • Ingår i: GFF. - Taylor & Francis. - 2000-0863. ; 137:2, s. 83-101
  • Tidskriftsartikel (refereegranskat)abstract
    • Magmatic Ni-Cu sulphide deposits are commonly associated with mafic rocks within the marginal areas of Archean or Proterozoic cratons. The Kleva Ni-Cu sulphide deposit in southeast Sweden is hosted by gabbro-diorite rocks and is sandwiched between two Palaeoproterozoic magmatic arcs: the Transscandinavian Igneous Belt (TIB) and the Oskarshamn-Jonkoping Belt (OJB). Major and trace element data corroborate an arc origin for the Kleva intrusive complex. The variety of rocks and geochemical signatures suggest that it formed from several magmatic pulses. Despite the occurrence of supracrustal xenoliths, there is a lack of trace element evidence for significant assimilation. Mafic intrusions are abundant in southeast Sweden and are generally inferred to be synchronous with the TIB. Of these, Kleva is the only known Ni-Cu deposit, and it is unclear if it is associated with the OJB or TIB. Here, we present zircon and baddeleyite U-Pb dates of 1788 +/- 4Ma, 1788 +/- 5Ma and 1792 +/- 3Ma. We interpret a 1790Ma date to be the best estimate of the crystallisation age of the Kleva intrusive complex, indicating that the emplacement of mafic magma is coeval with the voluminous arc-related TIB magmatism in the area.
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7.
  • Bjärnborg, Karolina, et al. (författare)
  • The age of the Kleva intrusion, southeast Sweden
  • 2013
  • Ingår i: Mineral deposit research for a high-tech world : Proceedings of the 12th Biennial SGA Meeting, 12-15 August 2013, Uppsala, Sweden. - SGU. - 978-91-7403-207-9 ; s. 1647-1649
  • Konferensbidrag (refereegranskat)abstract
    • The Kleva nickel-copper mineralization is situated within a gabbro-diorite intrusion on the border between the late Svecofennian rocks of the Oskarshamn-Jonkoping belt and rocks of the slightly younger Transscandinavian Igneous Belt (TIB). The sulphides present in the mafic intrusion are pyrrhotite, chalcopyrite, pentlandite and pyrite, occurring as massive mineralization, disseminations and thin, predominantly chalcopyrite-bearing veins. Age determinations of the gabbro-diorite were conducted to determine the age of the mineralization and its regional context. U-Pb analyses of baddeleyite (TIMS) and zircon (SIMS) from the gabbro-diorite and related rocks indicate an age of c. 1.79 Ga for the Kleva intrusion, broadly coeval with the TIB-rocks in the area, but younger than the late Svecofennian rocks. Further studies will help to constrain whether the sulphide mineralization was modified during later alteration, regional tectonism and metamorphism.
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8.
  • Bos, Isabelle, et al. (författare)
  • The frequency and influence of dementia risk factors in prodromal Alzheimer's disease
  • 2017
  • Ingår i: Neurobiology of Aging. - Elsevier. - 0197-4580. ; 56, s. 33-40
  • Tidskriftsartikel (refereegranskat)abstract
    • We investigated whether dementia risk factors were associated with prodromal Alzheimer's disease (AD) according to the International Working Group-2 and National Institute of Aging-Alzheimer's Association criteria, and with cognitive decline. A total of 1394 subjects with mild cognitive impairment from 14 different studies were classified according to these research criteria, based on cognitive performance and biomarkers. We compared the frequency of 10 risk factors between the subgroups, and used Cox-regression to examine the effect of risk factors on cognitive decline. Depression, obesity, and hypercholesterolemia occurred more often in individuals with low-AD-likelihood, compared with those with a high-AD-likelihood. Only alcohol use increased the risk of cognitive decline, regardless of AD pathology. These results suggest that traditional risk factors for AD are not associated with prodromal AD or with progression to dementia, among subjects with mild cognitive impairment. Future studies should validate these findings and determine whether risk factors might be of influence at an earlier stage (i.e., preclinical) of AD.
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9.
  • Carolina Dalmasso, Maria, et al. (författare)
  • Transethnic meta-analysis of rare coding variants in PLCG2, ABI3, and TREM2 supports their general contribution to Alzheimer's disease
  • 2019
  • Ingår i: Translational Psychiatry. - NATURE PUBLISHING GROUP. - 2158-3188 .- 2158-3188. ; 9
  • Tidskriftsartikel (refereegranskat)abstract
    • Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.
10.
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