Centre d'Information et de documentation du CRA Rhône-Alpes
CRA
Informations pratiques
-
Adresse
Centre d'information et de documentation
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexHoraires
Lundi au Vendredi
9h00-12h00 13h30-16h00Contact
Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Détail de l'auteur
Auteur Silven READ |
Documents disponibles écrits par cet auteur (2)
Faire une suggestion Affiner la recherche
AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism / Bernard CRESPI in Autism Research and Treatment, 2019 (2019)
[article]
Titre : AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism Type de document : Texte imprimé et/ou numérique Auteurs : Bernard CRESPI, Auteur ; Silven READ, Auteur ; Amy LY, Auteur ; Peter HURD, Auteur Année de publication : 2019 Article en page(s) : 6 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences inthe expression of autism-associated traits found in typical populations. 'e theory is supported by extensive phenotypicevidence, but no genes have yet been described with properties that fit its predictions. 'e autophagy-associated geneAMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differentialexpression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. Wegenotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expressionof autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase inscore for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typicalpopulations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associatedphenotype. 'ese findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects canmediate aspects of risk for autism. En ligne : https://doi.org/10.1155/2019/1968580 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Autism Research and Treatment > 2019 (2019) . - 6 p.[article] AMBRA1, Autophagy, and the Extreme Male Brain Theory of Autism [Texte imprimé et/ou numérique] / Bernard CRESPI, Auteur ; Silven READ, Auteur ; Amy LY, Auteur ; Peter HURD, Auteur . - 2019 . - 6 p.
Langues : Anglais (eng)
in Autism Research and Treatment > 2019 (2019) . - 6 p.
Index. décimale : PER Périodiques Résumé : The extreme male brain theory of autism posits that its male bias is mediated by exaggeration of male-biased sex differences inthe expression of autism-associated traits found in typical populations. 'e theory is supported by extensive phenotypicevidence, but no genes have yet been described with properties that fit its predictions. 'e autophagy-associated geneAMBRA1 represents one of the top genome-wide “hits” in recent GWAS studies of schizophrenia, shows sex-differentialexpression, and has been linked with autism risk and traits in humans and mice, especially or exclusively among females. Wegenotyped the AMBRA1 autism-risk SNP in a population of typical humans who were scored for the dimensional expressionof autistic and schizotypal traits. Females, but not males, homozygous for the GG genotype showed a significant increase inscore for the single trait, the Autism Quotient-Imagination subscale, that exhibits a strong, significant male bias in typicalpopulations. As such, females with this genotype resembled males for this highly sexually dimorphic, autism-associatedphenotype. 'ese findings support the extreme male brain hypothesis and indicate that sex-specific genetic effects canmediate aspects of risk for autism. En ligne : https://doi.org/10.1155/2019/1968580 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population / Christina MANNING in Autism Research and Treatment, 2021 (2021)
[article]
Titre : SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population Type de document : Texte imprimé et/ou numérique Auteurs : Christina MANNING, Auteur ; Peter L. HURD, Auteur ; Silven READ, Auteur ; Bernard CRESPI, Auteur Article en page(s) : 6634584 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan–McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan–McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan–McDermid syndrome. En ligne : https://doi.org/10.1155/2021/6634584 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=460
in Autism Research and Treatment > 2021 (2021) . - 6634584[article] SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population [Texte imprimé et/ou numérique] / Christina MANNING, Auteur ; Peter L. HURD, Auteur ; Silven READ, Auteur ; Bernard CRESPI, Auteur . - 6634584.
Langues : Anglais (eng)
in Autism Research and Treatment > 2021 (2021) . - 6634584
Index. décimale : PER Périodiques Résumé : Mutations affecting the synaptic-scaffold gene SHANK3 represent the most common genetic causes of autism with intellectual disability, accounting for about 1-2% of cases. Rare variants of this gene have also been associated with schizophrenia, and its deletion results in the autistic condition known as Phelan–McDermid syndrome. Despite the importance of SHANK3 as a paradigmatic gene mediating neurodevelopmental disorders, its psychological effects in nonclinical populations have yet to be studied. We genotyped the nonsynonymous, functional SHANK3 SNP rs9616915 in a large population of typical individuals scored for autism spectrum traits (the Autism Quotient, AQ) and schizotypy spectrum traits (the Schizotypal Personality Questionnaire, SPQ-BR). Males, but not females, showed significant genotypic effects for the SPQ-BR subscale associated with speech and language: Odd Speech. These findings, in conjunction with animal model studies showing vocalization and auditory effects of SHANK3 mutations, and studies indicating severe language alterations and speech-associated white matter tract abnormalities in Phelan–McDermid syndrome, suggest that SHANK3 differentially affects the development and expression of human language and speech. Imaging genetic and speech-language studies of typical individuals carrying different genotypes of rs9616915 should provide novel insights into the neurological and psychological bases of speech and language alterations among individuals with SHANK3 mutations and Phelan–McDermid syndrome. En ligne : https://doi.org/10.1155/2021/6634584 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=460