Institution
University of Gothenburg
Education•Gothenburg, Sweden•
About: University of Gothenburg is a education organization based out in Gothenburg, Sweden. It is known for research contribution in the topics: Population & Poison control. The organization has 23855 authors who have published 65241 publications receiving 2606327 citations. The organization is also known as: Göteborg University & Gothenburg University.
Topics: Population, Poison control, Health care, Implant, Dementia
Papers published on a yearly basis
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Paris Diderot University1, University of Paris2, Icahn School of Medicine at Mount Sinai3, The Centre for Applied Genomics4, École Normale Supérieure5, Pasteur Institute6, Lund University7, University of Gothenburg8, Heidelberg University9, Wellcome Trust Centre for Human Genetics10, University of Bologna11, Pierre-and-Marie-Curie University12, University of Montpellier13, French Institute of Health and Medical Research14, University of Ulm15, Montreal Neurological Institute and Hospital16, University College London17
TL;DR: Mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment and the clinical relevance of these genes remains to be ascertained.
Abstract: SHANK genes code for scaffold proteins located at the post-synaptic density of glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the induction and maturation of dendritic spines, whereas SHANK1 induces the enlargement of spine heads. Mutations in SHANK genes have been associated with autism spectrum disorders (ASD), but their prevalence and clinical relevance remain to be determined. Here, we performed a new screen and a meta-analysis of SHANK copy-number and coding-sequence variants in ASD. Copy-number variants were analyzed in 5,657 patients and 19,163 controls, coding-sequence variants were ascertained in 760 to 2,147 patients and 492 to 1,090 controls (depending on the gene), and, individuals carrying de novo or truncating SHANK mutations underwent an extensive clinical investigation. Copy-number variants and truncating mutations in SHANK genes were present in ∼1% of patients with ASD: mutations in SHANK1 were rare (0.04%) and present in males with normal IQ and autism; mutations in SHANK2 were present in 0.17% of patients with ASD and mild intellectual disability; mutations in SHANK3 were present in 0.69% of patients with ASD and up to 2.12% of the cases with moderate to profound intellectual disability. In summary, mutations of the SHANK genes were detected in the whole spectrum of autism with a gradient of severity in cognitive impairment. Given the rare frequency of SHANK1 and SHANK2 deleterious mutations, the clinical relevance of these genes remains to be ascertained. In contrast, the frequency and the penetrance of SHANK3 mutations in individuals with ASD and intellectual disability-more than 1 in 50-warrant its consideration for mutation screening in clinical practice.
452 citations
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VU University Amsterdam1, University of Sheffield2, University of Gothenburg3, University of Copenhagen4, Ohio State University5, University of Alberta6, University of Minnesota7, King's College London8, University of British Columbia9, Marine Biological Laboratory10, Aberystwyth University11, University of Alaska Fairbanks12, University of Alaska Anchorage13
TL;DR: Cornelissen et al. as discussed by the authors showed that lichen decline in arctic ecosystems is a function of increases in vascular plant biomass, and proposed a global change and arctic ecology model.
Abstract: Cornelissen, J. H. C., Callaghan, T. V., Alatalo, J. M., Michelsen, A., Graglia, E., Hartley, A. E., Hik, D. S., Hobbie, S. E., Press, M. C., Robinson, C. H., Henry, G. H. R. (2001). Global change and arctic ecosystems: is lichen decline a function of increases in vascular plant biomass. Journal of Ecology, 89, (6), 984-994. Sponsorship: Swedish Natural Science Research Council (NFR)/Swedish Environmental Protection Agency (two grants)/ US National Science Foundation (four grants)/ the Danish Natural Science Research Council (two grants)/ NASA (Global Change Fellowship), NSERC (Canada, two grants)/the Natural Environment Research Council (UJ, two grants)/ the 'Stiftelse for Oscar & Lilli Lamms Minne' (Sweden) / ESRC (Global Change Research Council).
452 citations
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Russian Academy of Sciences1, Cardiff University2, University of Turku3, University of Gothenburg4, Uppsala University5, Moscow State University6, University of Helsinki7, University of Glasgow8, Umeå University9, University of Alcalá10, Spanish National Research Council11, Eötvös Loránd University12, Bangor University13
TL;DR: Trends in spring temperature varied markedly between study sites, and across populations the advancement of laying date was stronger in areas where the spring temperatures increased more, giving support to the theory that climate change causally affects breeding date advancement.
Abstract: Advances in the phenology of organisms are often attributed to climate change, but alternatively, may reflect a publication bias towards advances and may be caused by environmental factors unrelated to climate change. Both factors are investigated using the breeding dates of 25 long-term studied populations of Ficedula flycatchers across Europe. Trends in spring temperature varied markedly between study sites, and across populations the advancement of laying date was stronger in areas where the spring temperatures increased more, giving support to the theory that climate change causally affects breeding date advancement.
452 citations
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TL;DR: In this article, a survey of recent research focusing on core biomarker candidates for early diagnosis, classification, progression, and prediction of Alzheimer's disease (AD) is presented. But, the most promising biomarkers derived from structural and functional neuroimaging and those measured in cerebrospinal fluid (CSF) and plasma show the greatest promise.
Abstract: Background In the earliest clinical stages of Alzheimer’s disease (AD) when symptoms are mild, clinical diagnosis can be difficult. AD pathology most likely precedes symptoms. Biomarkers can serve as early diagnostic indicators or as markers of preclinical pathologic change. Candidate biomarkers derived from structural and functional neuroimaging and those measured in cerebrospinal fluid (CSF) and plasma show the greatest promise. Unbiased exploratory approaches, eg, proteomics or cortical thickness analysis, could yield novel biomarkers. The objective of this article was to review recent progress in selected imaging and neurochemical biomarkers for early diagnosis, classification, progression, and prediction of AD. Methods We performed a survey of recent research, focusing on core biomarker candidates in AD. Results A number of in vivo neurochemistry and neuroimaging techniques, which can reliably assess aspects of physiology, pathology, chemistry, and neuroanatomy, hold promise as biomarkers. These neurobiologic measures appear to relate closely to pathophysiologic, neuropathologic, and clinical data, such as hyperphosphorylation of tau, amyloid beta (Aβ) metabolism, lipid peroxidation, pattern and rate of atrophy, loss of neuronal integrity, functional and cognitive decline, as well as risk of future decline. Current advances in the neuroimaging of mediotemporal, neocortical, and subcortical areas of the brain of mild cognitive impairment (MCI) and AD subjects are presented. CSF levels of Aβ42, tau, and hyperphosphorylated tau protein (p-tau) can distinguish subjects with MCI who are likely to progress to AD. They also show preclinical alterations that predict later development of early AD symptoms. Studies on plasma Aβ are not entirely consistent, but recent findings suggest that decreased plasma Aβ42 relative to Aβ40 might increase the risk of AD. Increased production of Aβ in aging is suggested by elevation of BACE1 protein and enzyme activity in the brain and CSF of subjects with MCI. CSF tau and p-tau are increased in MCI as well and show predictive value. Other biomarkers might indicate components of a cascade initiated by Aβ, such as oxidative stress or inflammation. These merit further study in MCI and earlier. Conclusions A number of neuroimaging candidate markers are promising, such as hippocampus and entorhinal cortex volumes, basal forebrain nuclei, cortical thickness, deformation-based and voxel-based morphometry, structural and effective connectivity by using diffusion tensor imaging, tractography, and functional magnetic resonance imaging. CSF Aβ42, BACE1, total tau, and p-tau are substantially altered in MCI and clinical AD. Other interesting novel marker candidates derived from blood are being currently proposed (phase I). Biomarker discovery through proteomic approaches requires further research. Large-scale international controlled multicenter trials (such as the U.S., European, Australian, and Japanese Alzheimer’s Disease Neuroimaging Initiative and the German Dementia Network) are engaged in phase III development of the core feasible imaging and CSF biomarker candidates in AD. Biomarkers are in the process of implementation as primary outcome variables into regulatory guideline documents regarding study design and approval for compounds claiming disease modification.
452 citations
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TL;DR: Results indicate that a low melatonin level, caused by a primary deficit in ASMT activity, is a risk factor for autism spectrum disorders and support ASMT as a susceptibility gene for ASD and highlight the crucial role of melatonin in human cognition and behavior.
Abstract: Melatonin is produced in the dark by the pineal gland and is a key regulator of circadian and seasonal rhythms. A low melatonin level was reported in individuals with autism spectrum disorders (ASD), but the underlying cause of this deficit was unknown. The ASMT gene, encoding the last enzyme of melatonin synthesis, is located on the pseudo-autosomal region 1 of the sex chromosomes, deleted in several individuals with ASD. In this study, we sequenced all ASMT exons and promoters in individuals with ASD (n=250) and compared the allelic frequencies with controls (n=255). Non-conservative variations of ASMT were identified, including a splicing mutation present in two families with ASD, but not in controls. Two polymorphisms located in the promoter (rs4446909 and rs5989681) were more frequent in ASD compared to controls (P=0.0006) and were associated with a dramatic decrease in ASMT transcripts in blood cell lines (P=2×10−10). Biochemical analyses performed on blood platelets and/or cultured cells revealed a highly significant decrease in ASMT activity (P=2×10−12) and melatonin level (P=3×10−11) in individuals with ASD. These results indicate that a low melatonin level, caused by a primary deficit in ASMT activity, is a risk factor for ASD. They also support ASMT as a susceptibility gene for ASD and highlight the crucial role of melatonin in human cognition and behavior.
451 citations
Authors
Showing all 24120 results
Name | H-index | Papers | Citations |
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Peter J. Barnes | 194 | 1530 | 166618 |
Luigi Ferrucci | 193 | 1601 | 181199 |
Richard H. Friend | 169 | 1182 | 140032 |
Napoleone Ferrara | 167 | 494 | 140647 |
Timothy A. Springer | 167 | 669 | 122421 |
Anders Björklund | 165 | 769 | 84268 |
Hua Zhang | 163 | 1503 | 116769 |
Kaj Blennow | 160 | 1845 | 116237 |
Leif Groop | 158 | 919 | 136056 |
Tomas Hökfelt | 158 | 1033 | 95979 |
Johan G. Eriksson | 156 | 1257 | 123325 |
Naveed Sattar | 155 | 1326 | 116368 |
Paul Elliott | 153 | 773 | 103839 |
Claude Bouchard | 153 | 1076 | 115307 |
Hakon Hakonarson | 152 | 968 | 101604 |