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Auteur Alejandro LÓPEZ-TOBÓN |
Documents disponibles écrits par cet auteur (1)
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The sociability spectrum: evidence from reciprocal genetic copy number variations / Alejandro LÓPEZ-TOBÓN in Molecular Autism, 11 (2020)
[article]
Titre : The sociability spectrum: evidence from reciprocal genetic copy number variations Type de document : Texte imprimé et/ou numérique Auteurs : Alejandro LÓPEZ-TOBÓN, Auteur ; Sebastiano TRATTARO, Auteur ; Giuseppe TESTA, Auteur Article en page(s) : 50 p. Langues : Anglais (eng) Mots-clés : 7dupASD 7q11.23 Autism spectrum disorders Hypersociability Sociability William-Beuren syndrome iPSCs Index. décimale : PER Périodiques Résumé : Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species-specific. There is an ever-growing accumulation of molecular associations to autism spectrum disorders (ASD), from causative genes to endophenotypes across multiple functional layers; these however, have rarely been put in context with the opposite manifestation featured in hypersociability syndromes. Genetic copy number variations (CNVs) allow to investigate the relationships between gene dosage and its corresponding phenotypes. In particular, CNVs of the 7q11.23 locus, which manifest diametrically opposite social behaviors, offer a privileged window to look into the molecular substrates underlying the developmental trajectories of the social brain. As by definition sociability is studied in humans postnatally, the developmental fluctuations causing social impairments have thus far remained a black box. Here, we review key evidence of molecular players involved at both ends of the sociability spectrum, focusing on genetic and functional associations of neuroendocrine regulators and synaptic transmission pathways. We then proceed to propose the existence of a molecular axis centered around the paradigmatic dosage imbalances at the 7q11.23 locus, regulating networks responsible for the development of social behavior in humans and highlight the key role that neurodevelopmental models from reprogrammed pluripotent cells will play for its understanding. En ligne : http://dx.doi.org/10.1186/s13229-020-00347-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 50 p.[article] The sociability spectrum: evidence from reciprocal genetic copy number variations [Texte imprimé et/ou numérique] / Alejandro LÓPEZ-TOBÓN, Auteur ; Sebastiano TRATTARO, Auteur ; Giuseppe TESTA, Auteur . - 50 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 50 p.
Mots-clés : 7dupASD 7q11.23 Autism spectrum disorders Hypersociability Sociability William-Beuren syndrome iPSCs Index. décimale : PER Périodiques Résumé : Sociability entails some of the most complex behaviors processed by the central nervous system. It includes the detection, integration, and interpretation of social cues and elaboration of context-specific responses that are quintessentially species-specific. There is an ever-growing accumulation of molecular associations to autism spectrum disorders (ASD), from causative genes to endophenotypes across multiple functional layers; these however, have rarely been put in context with the opposite manifestation featured in hypersociability syndromes. Genetic copy number variations (CNVs) allow to investigate the relationships between gene dosage and its corresponding phenotypes. In particular, CNVs of the 7q11.23 locus, which manifest diametrically opposite social behaviors, offer a privileged window to look into the molecular substrates underlying the developmental trajectories of the social brain. As by definition sociability is studied in humans postnatally, the developmental fluctuations causing social impairments have thus far remained a black box. Here, we review key evidence of molecular players involved at both ends of the sociability spectrum, focusing on genetic and functional associations of neuroendocrine regulators and synaptic transmission pathways. We then proceed to propose the existence of a molecular axis centered around the paradigmatic dosage imbalances at the 7q11.23 locus, regulating networks responsible for the development of social behavior in humans and highlight the key role that neurodevelopmental models from reprogrammed pluripotent cells will play for its understanding. En ligne : http://dx.doi.org/10.1186/s13229-020-00347-0 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427