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  1. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments.
    Autor*in: Leblond, Claire, ; Nava, Caroline ; Polge, Anne ; Gauthier, Julie ; Huguet, Guillaume ; Lumbroso, Serge ; Giuliano, Fabienne ; Stordeur, Coline ; Depienne, Christel ; Mouzat, Kevin ; Pinto, Dalila ; Howe, Jennifer ; Lemière, Nathalie ; Durand, Christelle, ; Guibert, Jessica ; Ey, Elodie ; Toro, Roberto ; Peyre, Hugo ; Mathieu, Alexandre ; Amsellem, Frédérique ; Rastam, Maria ; Gillberg, Carina, ; Rappold, Gudrun, ; Holt, Richard ; Monaco, Anthony, ; Maestrini, Elena ; Galan, Pilar ; Heron, Delphine ; Jacquette, Aurélia ; Afenjar, Alexandra ; Rastetter, Agnès ; Brice, Alexis ; Devillard, Françoise ; Assouline, Brigitte ; Laffargue, Fanny ; Lespinasse, James ; Chiesa, Jean ; Rivier, Francois ; Bonneau, Dominique ; Regnault, Beatrice ; Zelenika, Diana ; Délépine, Marc ; Lathrop, Mark ; Sanlaville, Damien ; Schluth-Bolard, Caroline ; Edery, Patrick ; Perrin, Laurence ; Tabet, Anne Claude ; Schmeisser, Michael, ; Boeckers, Tobias, ; Coleman, Mary ; Sato, Daisuke ; Szatmari, Peter ; Scherer, Stephen, ; Rouleau, Guy, ; Betancur, Catalina ; Leboyer, Marion ; Gillberg, Christopher ; Delorme, Richard ; Bourgeron, Thomas
    Erschienen: 2014
    Verlag:  HAL CCSD ; Public Library of Science

    International audience ; 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... mehr

     

    International audience ; 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.

     
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    Quelle: BASE Fachausschnitt Germanistik
    Sprache: Englisch
    Medientyp: Aufsatz aus einer Zeitschrift
    Format: Online
    Übergeordneter Titel: ISSN: 1553-7390 ; EISSN: 1553-7404 ; PLoS Genetics ; https://www.hal.inserm.fr/inserm-01061498 ; PLoS Genetics, 2014, 10 (9), pp.e1004580. ⟨10.1371/journal.pgen.1004580⟩
    Schlagworte: [SDV.GEN]Life Sciences [q-bio]/Genetics
    Lizenz:

    info:eu-repo/semantics/OpenAccess
  2. Beginning Visual Web Developer 2005 Express
    from novice to professional
    Autor*in: Sarknas, Paul
    Erschienen: c 2006
    Verlag:  Apress, Berkeley, Calif.

    Standort:
    Technische Informationsbibliothek (TIB) / Leibniz-Informationszentrum Technik und Naturwissenschaften und Universitätsbibliothek
    Signatur:
    T 06 B 1424
    Fernleihe:
    uneingeschränkte Fernleihe, Kopie und Ausleihe
    Link zum Verbundkatalog:
    Gemeinsamer Bibliotheksverbund (GBV)
    Export in Literaturverwaltung   RIS-Format
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    Quelle: Verbundkataloge
    Beteiligt: Delorme, Richard
    Sprache: Englisch
    Medientyp: Buch (Monographie)
    Format: Druck
    ISBN: 1590594827
    Schriftenreihe: The expert's voice in .NET
    Books for professionals by professionals
    Schlagworte: Visual Web Developer 2005 Express Edition;
    Umfang: XVII, 334 S., Ill., graph. Darst.
  3. Beginning Visual Web Developer 2005 Express
    from Novice to Professional
    Autor*in: Sarknas, Paul
    Erschienen: 2006
    Verlag:  Apress, Berkeley, Calif.

    Standort:
    Universitätsbibliothek Bamberg
    Fernleihe:
    uneingeschränkte Fernleihe, Kopie und Ausleihe
    Link zum Verbundkatalog:
    Bibliotheksverbund Bayern (BVB)

    Standort:
    Hochschule München, Bibliothek
    Fernleihe:
    uneingeschränkte Fernleihe, Kopie und Ausleihe
    Link zum Verbundkatalog:
    Bibliotheksverbund Bayern (BVB)

    Standort:
    Universitätsbibliothek Passau
    Fernleihe:
    uneingeschränkte Fernleihe, Kopie und Ausleihe
    Link zum Verbundkatalog:
    Bibliotheksverbund Bayern (BVB)
    Export in Literaturverwaltung   RIS-Format
      BibTeX-Format
    Hinweise zum Inhalt
    Quelle: Verbundkataloge
    Beteiligt: Delorme, Richard (Verfasser)
    Sprache: Englisch
    Medientyp: Ebook
    Format: Online
    ISBN: 9781430201052; 9781590594827
    Weitere Identifier:
    RVK Klassifikation: ST 253
    Schriftenreihe: The experts voice IN.NET
    Schlagworte: Visual Web Developer 2005 Express Edition
    Umfang: 1 Online-Ressource (XVII, 334 S.), Ill., graph. Darst.