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  • 13 TA Science Translational Medicine PG 321fs1 321fs1 VI 8 IP 321 4099 http stm sciencemag org content 8 321 321fs1 short 4100 http stm sciencemag org content 8 321 321fs1 full AB A well powered clinical trial that failed

    Original URL path: http://stm.sciencemag.org/highwire/citation/199407/medlars (2016-02-10)
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  • Medicine YR 2016 FD American Association for the Advancement of Science VO 8 IS 321 SP 321fs1 OP 321fs1 DO 10 1126 scitranslmed aad9874 UL http stm sciencemag org content 8 321 321fs1 abstract AB A well powered clinical trial

    Original URL path: http://stm.sciencemag.org/highwire/citation/199407/refworks (2016-02-10)
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  • Epigenetic Modification of the FMR1 Gene in Fragile X Syndrome Is Associated with Differential Response to the mGluR5 Antagonist AFQ056 | Science Translational Medicine
    Talita Hilse Find this author on Google Scholar Find this author on PubMed Search for this author on this site Annette Floesser Find this author on Google Scholar Find this author on PubMed Search for this author on this site Janice Branson Find this author on Google Scholar Find this author on PubMed Search for this author on this site Graeme Bilbe Find this author on Google Scholar Find this author on PubMed Search for this author on this site Donald Johns Find this author on Google Scholar Find this author on PubMed Search for this author on this site Baltazar Gomez Mancilla Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF You are currently viewing the abstract View Full Text As a service to the community AAAS Science has made this article free with registration Username Enter your Sciencemag org username Password Enter the password that accompanies your username Forgot your username or password Log in Register for Free Join Subscribe Recommend a subscription to your library Help for librarians Abstract Fragile X syndrome FXS is an X linked condition associated with intellectual disability and behavioral problems It is caused by expansion of a CGG repeat in the 5 untranslated region of the fragile X mental retardation 1 FMR1 gene This mutation is associated with hypermethylation at the FMR1 promoter and resultant transcriptional silencing FMR1 silencing has many consequences including up regulation of metabotropic glutamate receptor 5 mGluR5 mediated signaling mGluR5 receptor antagonists have shown promise in preclinical FXS models and in one small open label study of FXS We examined whether a receptor subtype selective inhibitor of mGluR5 AFQ056 improves the behavioral symptoms of FXS in a randomized double blind two treatment two period crossover study of 30 male FXS patients aged 18 to 35 years We detected no significant effects of treatment on the primary outcome measure the Aberrant Behavior Checklist Community Edition ABC C score at day 19 or 20 of treatment In an exploratory analysis however seven patients with full FMR1 promoter methylation and no detectable FMR1 messenger RNA improved as measured with the ABC C significantly more after AFQ056 treatment than with placebo P 0 001 We detected no response in 18 patients with partial promoter methylation Twenty four patients experienced an adverse event which was mostly mild to moderately severe fatigue or headache If confirmed in larger and longer term studies these results suggest that blockade of the mGluR5 receptor in patients with full methylation at the FMR1 promoter may show improvement in the behavioral attributes of FXS Footnotes These authors contributed equally to this work Citation S Jacquemont A Curie V des Portes M G Torrioli E Berry Kravis R J Hagerman F J Ramos K Cornish Y He C Paulding G Neri F Chen N Hadjikhani D Martinet J Meyer J S Beckmann K Delange A Brun G Bussy F Gasparini T Hilse A Floesser

    Original URL path: http://stm.sciencemag.org/content/3/64/64ra1 (2016-02-10)
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  • Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials | Science Translational Medicine
    on Google Scholar Find this author on PubMed Search for this author on this site Liansheng Zhu Integrated Quantitative Science Global Development Novartis Pharmaceuticals Corporation East Hanover NJ 07936 1080 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Gottfried Maria Barth Department of Child and Adolescent Psychiatry University Hospital of Tübingen 72076 Tübingen Baden Württemberg Germany Find this author on Google Scholar Find this author on PubMed Search for this author on this site Thomas Jaecklin Neuroscience Development Novartis Pharma AG CH 4056 Basel Switzerland Find this author on Google Scholar Find this author on PubMed Search for this author on this site George Apostol Neuroscience Development Novartis Pharma AG CH 4056 Basel Switzerland Find this author on Google Scholar Find this author on PubMed Search for this author on this site Florian von Raison Neuroscience Development Novartis Pharma AG CH 4056 Basel Switzerland Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF You are currently viewing the abstract View Full Text Username Enter your Sciencemag org username Password Enter the password that accompanies your username Forgot your username or password Log in Join Subscribe Purchase Article Activate Member Account Renew Subscription Recommend a subscription to your library Help for librarians The mGluR theory of fragile X put to the test People with the genetic disorder fragile X syndrome exhibit a variable constellation of debilitating physical and cognitive problems Promising evidence from mouse models had raised hopes that an overactive glutamate signaling pathway mGluR was a smoking gun at the heart of the disease and that it could be successfully repaired A pilot study in patients supported the mouse work Down regulation of mGluR improved behavioral problems at least in patients carrying a certain genetic methylation marker Here in a larger well powered clinical trial these results are put to the test and come up short In adolescent or adult fragile X patients whether they have the methylation marker or not the glutamate antagonist mavoglurant had no effect on patient behavior The authors discuss what further trials will be required however before permanently putting the mGluR theory of fragile X syndrome out to pasture Abstract Fragile X syndrome FXS the most common cause of inherited intellectual disability and autistic spectrum disorder is typically caused by transcriptional silencing of the X linked FMR1 gene Work in animal models has described altered synaptic plasticity a result of the up regulation of metabotropic glutamate receptor 5 mGluR5 mediated signaling as a putative downstream effect Post hoc analysis of a randomized placebo controlled crossover phase 2 trial suggested that the selective mGluR5 antagonist mavoglurant improved behavioral symptoms in FXS patients with completely methylated FMR1 genes We present the results of two phase 2b multicenter randomized double blind placebo controlled parallel group studies of mavoglurant in FXS designed to confirm this result in adults n 175 aged 18

    Original URL path: http://stm.sciencemag.org/content/8/321/321ra5 (2016-02-10)
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  • Probing the Brain of Comorbidity | Science Translational Medicine
    Medicine Finland FIMM P O Box 20 FI 00014 University of Helsinki Helsinki Finland Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA 02142 USA Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital Boston MA 02114 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF You are currently viewing the View Full Text Username Enter your Sciencemag org username Password Enter the password that accompanies your username Forgot your username or password Log in Join Subscribe Purchase Article Activate Member Account Renew Subscription Recommend a subscription to your library Help for librarians Science Translational Medicine Vol 5 Issue 183 01 May 2013 Table of Contents Article Tools Email Thank you for your interest in spreading the word about Science Translational Medicine NOTE We only request your email address so that the person you are recommending the page to knows that you wanted them to see it and that it is not junk mail We do not capture any email address Your Email Your Name Send To Enter multiple addresses on separate lines or separate them with commas You are going to email the following Probing the Brain of Comorbidity Message Subject Your Name has forwarded a page to you from Science Translational Medicine Message Body Your Name thought you would like to see this page from the Science Translational Medicine web site Your Personal Message Send Message Download Powerpoint Print Save to my folders User Name Password Remember my user name password Submit Alerts Please log in to add an alert for this article Username Enter your Sciencemag org username Password Enter the password that accompanies your username Log in Request Permissions Citation tools Probing

    Original URL path: http://stm.sciencemag.org/content/5/183/183fs15.figures-only (2016-02-10)
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  • Probing the Brain of Comorbidity | Science Translational Medicine
    USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF Article Information vol 5 no 183 183fs15 DOI http dx doi org 10 1126 scitranslmed 3006229 PubMed 23636091 Published By American Association for the Advancement of Science Print ISSN 1946 6234 Online ISSN 1946 6242 History Copyright Usage Copyright 2013 American Association for the Advancement of Science Author Information Aarno Palotie 1 2 3 Mikko Kallela 4 and Verneri Anttila 2 3 5 1 Wellcome Trust Sanger Institute Wellcome Trust Genome Campus Hinxton Cambridge CB10 1SA UK 2 Institute for Molecular Medicine Finland FIMM P O Box 20 FI 00014 University of Helsinki Helsinki Finland 3 Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA 02142 USA 4 Department of Neurology 00029 Helsinki University Central Hospital Helsinki Finland 5 Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital Boston MA 02114 USA Corresponding author E mail ap8 at sanger ac uk AltMetrics No Altmetric data available for this article Article usage Abstract Full PDF May 2013 4558 184 171 Jun 2013 374 17 27 Jul 2013 168 7 12 Aug 2013 139 2 4 Sep 2013 85 5 6 Oct 2013 112 2 6 Nov 2013 109 4 10 Dec 2013 54 2 3 Jan 2014 96 3 4 Feb 2014 70 3 5 Mar 2014 64 4 4 Apr 2014 84 3 4 May 2014 37 1 2 Jun 2014 45 2 5 Jul 2014 53 1 6 Aug 2014 53 2 8 Sep 2014 49 1 0 Oct 2014 55 1 0 Nov 2014 42 4 4 Dec 2014 61 0 2 Jan 2015 72 7 8 Feb 2015 16 0 0 Mar 2015 29 0 2 Apr 2015 27 0 0 May 2015 40 1 3 Jun 2015 25 1 4 Jul 2015 22 0 2 Aug 2015 40 0 0 Sep 2015 180 1 2 Oct 2015 21 1 3 Nov 2015 22 1 1 Dec 2015 26 1 0 Jan 2016 117 6 14 Feb 2016 15 1 0 View Full Text Science Translational Medicine Vol 5 Issue 183 01 May 2013 Table of Contents Article Tools Email Thank you for your interest in spreading the word about Science Translational Medicine NOTE We only request your email address so that the person you are recommending the page to knows that you wanted them to see it and that it is not junk mail We do not capture any email address Your Email Your Name Send To Enter multiple addresses on separate lines or separate them with commas You are going to email the following Probing the Brain of Comorbidity Message Subject Your Name has forwarded a page to you from Science Translational Medicine Message Body Your Name thought you would like to see this page from the Science Translational Medicine web site Your Personal Message Send Message Download Powerpoint Print Save to

    Original URL path: http://stm.sciencemag.org/content/5/183/183fs15.article-info (2016-02-10)
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  • Probing the Brain of Comorbidity | Science Translational Medicine
    University Central Hospital Helsinki Finland Find this author on Google Scholar Find this author on PubMed Search for this author on this site Verneri Anttila Institute for Molecular Medicine Finland FIMM P O Box 20 FI 00014 University of Helsinki Helsinki Finland Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA 02142 USA Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital Boston MA 02114 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF Submit a Response to This Article Compose eLetter Title Contents More information about text formats Plain text Plain text No HTML tags allowed Web page addresses and e mail addresses turn into links automatically Lines and paragraphs break automatically Upload Tables and Figures Attach tables e g doc and figures jpg gif tif by choosing the desired file and then uploading them below Add a new file Upload Files must be less than 100 MB Allowed file types doc jpg jpeg gif tif pdf File names can only contain the following characters A Z a z 0 9 Author Information Contributors First name and middle name First or given name e g Peter Last Name Your last or family name e g MacMoody Email Your email address e g higgs boson gmail com Role Occupation Your role and or occupation e g Orthopedic Surgeon Affiliation Your organization or institution if applicable e g Royal Free Hospital Add another contributor optional Statement of Competing Interests Competing interests Yes No Please describe the competing interests Highwire Comment Subject Apath Vertical Tabs Submit No eLetters have been published for this article View Full Text Science Translational Medicine Vol 5 Issue 183 01 May 2013 Table of Contents Article Tools Email Thank you for your interest in spreading the word about Science Translational Medicine NOTE We only request your email address so that the person you are recommending the page to knows that you wanted them to see it and that it is not junk mail We do not capture any email address Your Email Your Name Send To Enter multiple addresses on separate lines or separate them with commas You are going to email the following Probing the Brain of Comorbidity Message Subject Your Name has forwarded a page to you from Science Translational Medicine Message Body Your Name thought you would like to see this page from the Science Translational Medicine web site Your Personal Message Send Message Download Powerpoint Print Save to my folders User Name Password Remember my user name password Submit Alerts Please log in to add an alert for this article Username Enter your Sciencemag org username Password Enter the password that accompanies your username Log in Request Permissions Citation tools Probing the Brain of Comorbidity By Aarno Palotie Mikko Kallela Verneri Anttila Science Translational Medicine 01 May 2013 183fs15 Inherited sleep disorders might provide insights for migraine pathophysiology Citation

    Original URL path: http://stm.sciencemag.org/content/5/183/183fs15.e-letters (2016-02-10)
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  • Probing the Brain of Comorbidity | Science Translational Medicine
    Box 20 FI 00014 University of Helsinki Helsinki Finland Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA 02142 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Mikko Kallela Department of Neurology 00029 Helsinki University Central Hospital Helsinki Finland Find this author on Google Scholar Find this author on PubMed Search for this author on this site Verneri Anttila Institute for Molecular Medicine Finland FIMM P O Box 20 FI 00014 University of Helsinki Helsinki Finland Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA 02142 USA Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital Boston MA 02114 USA Find this author on Google Scholar Find this author on PubMed Search for this author on this site Article Figures Data Info Metrics eLetters PDF Log in to view full text Username Enter your Sciencemag org username Password Enter the password that accompanies your username Forgot your username or password Log in Join Subscribe Purchase Article Activate Member Account Renew Subscription Recommend a subscription to your library Help for librarians Science Translational Medicine Vol 5 Issue 183 01 May 2013 Table of Contents Article Tools Email Thank you for your interest in spreading the word about Science Translational Medicine NOTE We only request your email address so that the person you are recommending the page to knows that you wanted them to see it and that it is not junk mail We do not capture any email address Your Email Your Name Send To Enter multiple addresses on separate lines or separate them with commas You are going to email the following Probing the Brain of Comorbidity Message Subject Your Name has forwarded a page to you from Science Translational Medicine Message Body Your Name thought you would like to see this page from the Science Translational Medicine web site Your Personal Message Send Message Download Powerpoint Print Save to my folders User Name Password Remember my user name password Submit Alerts Please log in to add an alert for this article Username Enter your Sciencemag org username Password Enter the password that accompanies your username Log in Request Permissions Citation tools Probing the Brain of Comorbidity By Aarno Palotie Mikko Kallela Verneri Anttila Science Translational Medicine 01 May 2013 183fs15 Inherited sleep disorders might provide insights for migraine pathophysiology Citation Manager Formats BibTeX Bookends EasyBib EndNote tagged EndNote 8 xml Medlars Mendeley Papers RefWorks Tagged Ref Manager RIS Zotero Share Probing the Brain of Comorbidity By Aarno Palotie Mikko Kallela Verneri Anttila Science Translational Medicine 01 May 2013 183fs15 Inherited sleep disorders might provide insights for migraine pathophysiology Permalink Copy Related Content Research Article Casein Kinase Iδ Mutations in Familial Migraine and Advanced Sleep Phase Research Article Disruption of the Sleep Wake Cycle and Diurnal Fluctuation of β Amyloid in Mice with Alzheimer s Disease Pathology Research Article Chronic Traumatic Encephalopathy in Blast Exposed Military Veterans

    Original URL path: http://stm.sciencemag.org/content/5/183/183fs15.full (2016-02-10)
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