Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis / Sek KONG in Molecular Autism, (February 2014)  

Public ISBD [article]  inMolecular Autism > (February 2014) Titre : Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis Type de document : Texte imprimé et/ou numérique Auteurs : Sek KONG, Auteur ; Mustafa SAHIN, Auteur ; Christin COLLINS, Auteur ; Mary WERTZ, Auteur ; Malcolm CAMPBELL, Auteur ; Jarrett LEECH, Auteur ; Dilja D. KRUEGER, Auteur ; Mark F. BEAR, Auteur ; Louis KUNKEL, Auteur ; Isaac KOHANE, Auteur Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders may converge at a molecular level through the dysfunction of activity-dependent synaptic plasticity. To explore the characteristics of transcriptomic changes in these monogenic disorders, we profiled genome-wide gene expression levels in cerebellum and blood from murine models of fragile X syndrome and tuberous sclerosis. Differentially expressed genes and enriched pathways were distinct for the two murine models examined, with the exception of immune response-related pathways. In the cerebellum of the Fmr1 knockout (Fmr1-KO) model, the neuroactive ligand receptor interaction pathway and gene sets associated with synaptic plasticity such as long-term potentiation, gap junction, and axon guidance were the most significantly perturbed pathways. The phosphatidylinositol signaling pathway was significantly dysregulated in both cerebellum and blood of Fmr1-KO mice. In Tsc2 heterozygous (+/) mice, immune system-related pathways, genes encoding ribosomal proteins, and glycolipid metabolism pathways were significantly changed in both tissues. Our data suggest that distinct molecular pathways may be involved in ASD with known but different genetic causes and that blood gene expression profiles of Fmr1-KO and Tsc2+/ mice mirror some, but not all, of the perturbed molecular pathways in the brain. En ligne : http://dx.doi.org/10.1186/2040-2392-5-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227 [article] Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis [Texte imprimé et/ou numérique] / Sek KONG, Auteur ; Mustafa SAHIN, Auteur ; Christin COLLINS, Auteur ; Mary WERTZ, Auteur ; Malcolm CAMPBELL, Auteur ; Jarrett LEECH, Auteur ; Dilja D. KRUEGER, Auteur ; Mark F. BEAR, Auteur ; Louis KUNKEL, Auteur ; Isaac KOHANE, Auteur. Langues : Anglais (eng) in Molecular Autism > (February 2014) Index. décimale : PER Périodiques Résumé : Fragile X syndrome and tuberous sclerosis are genetic syndromes that both have a high rate of comorbidity with autism spectrum disorder (ASD). Several lines of evidence suggest that these two monogenic disorders may converge at a molecular level through the dysfunction of activity-dependent synaptic plasticity. To explore the characteristics of transcriptomic changes in these monogenic disorders, we profiled genome-wide gene expression levels in cerebellum and blood from murine models of fragile X syndrome and tuberous sclerosis. Differentially expressed genes and enriched pathways were distinct for the two murine models examined, with the exception of immune response-related pathways. In the cerebellum of the Fmr1 knockout (Fmr1-KO) model, the neuroactive ligand receptor interaction pathway and gene sets associated with synaptic plasticity such as long-term potentiation, gap junction, and axon guidance were the most significantly perturbed pathways. The phosphatidylinositol signaling pathway was significantly dysregulated in both cerebellum and blood of Fmr1-KO mice. In Tsc2 heterozygous (+/) mice, immune system-related pathways, genes encoding ribosomal proteins, and glycolipid metabolism pathways were significantly changed in both tissues. Our data suggest that distinct molecular pathways may be involved in ASD with known but different genetic causes and that blood gene expression profiles of Fmr1-KO and Tsc2+/ mice mirror some, but not all, of the perturbed molecular pathways in the brain. En ligne : http://dx.doi.org/10.1186/2040-2392-5-16 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=227

Social anxiety in adult males with autism spectrum disorders / Debbie SPAIN in Research in Autism Spectrum Disorders, 32 (December 2016)  

Public ISBD [article]  inResearch in Autism Spectrum Disorders > 32 (December 2016) . - p.13-23 Titre : Social anxiety in adult males with autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Debbie SPAIN, Auteur ; Francesca HAPPE, Auteur ; Patrick JOHNSTON, Auteur ; Malcolm CAMPBELL, Auteur ; Jacqueline SIN, Auteur ; Eileen DALY, Auteur ; Christine ECKER, Auteur ; Martin ANSON, Auteur ; Eddie CHAPLIN, Auteur ; Karen GLASER, Auteur ; Andreina MENDEZ, Auteur ; Karina LOVELL, Auteur ; Declan G. MURPHY, Auteur Article en page(s) : p.13-23 Langues : Anglais (eng) Mots-clés : Autism spectrum  Social anxiety  Social phobia  Adults  Self-report questionnaires Index. décimale : PER Périodiques Résumé : AbstractBackground Psychiatric conditions, notably anxiety, commonly co-occur with autism spectrum disorders (ASD). Method This study investigated self-reported behavioural, cognitive and affective symptoms of social anxiety (SA) in 50 adult males with ASD. Associations between SA, core ASD symptoms and facets of neuropsychological functioning were also examined. Results Twenty-six participants (52%) endorsed levels of SA that exceeded the suggested caseness threshold for social anxiety disorder. Categorical and dimensional data analyses indicated that there were no relationships between SA symptoms, present-state or childhood ASD symptom-severity, or measures of socio-emotional processing in this sample. Conclusions Study findings suggest that severity of SA is not merely a reflection of ASD symptom-severity. Further research is needed to ascertain the prevalence of SA in adult ASD epidemiological samples, and identify causal and maintaining mechanisms for these co-morbid symptoms. En ligne : http://dx.doi.org/10.1016/j.rasd.2016.08.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=296 [article] Social anxiety in adult males with autism spectrum disorders [Texte imprimé et/ou numérique] / Debbie SPAIN, Auteur ; Francesca HAPPE, Auteur ; Patrick JOHNSTON, Auteur ; Malcolm CAMPBELL, Auteur ; Jacqueline SIN, Auteur ; Eileen DALY, Auteur ; Christine ECKER, Auteur ; Martin ANSON, Auteur ; Eddie CHAPLIN, Auteur ; Karen GLASER, Auteur ; Andreina MENDEZ, Auteur ; Karina LOVELL, Auteur ; Declan G. MURPHY, Auteur . - p.13-23. Langues : Anglais (eng) in Research in Autism Spectrum Disorders > 32 (December 2016) . - p.13-23 Mots-clés : Autism spectrum  Social anxiety  Social phobia  Adults  Self-report questionnaires Index. décimale : PER Périodiques Résumé : AbstractBackground Psychiatric conditions, notably anxiety, commonly co-occur with autism spectrum disorders (ASD). Method This study investigated self-reported behavioural, cognitive and affective symptoms of social anxiety (SA) in 50 adult males with ASD. Associations between SA, core ASD symptoms and facets of neuropsychological functioning were also examined. Results Twenty-six participants (52%) endorsed levels of SA that exceeded the suggested caseness threshold for social anxiety disorder. Categorical and dimensional data analyses indicated that there were no relationships between SA symptoms, present-state or childhood ASD symptom-severity, or measures of socio-emotional processing in this sample. Conclusions Study findings suggest that severity of SA is not merely a reflection of ASD symptom-severity. Further research is needed to ascertain the prevalence of SA in adult ASD epidemiological samples, and identify causal and maintaining mechanisms for these co-morbid symptoms. En ligne : http://dx.doi.org/10.1016/j.rasd.2016.08.002 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=296

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