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Détail de l'auteur
Auteur Jun NOMURA |
Documents disponibles écrits par cet auteur (2)
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A 15q11–q13 Duplication Mouse Model of Autism Spectrum Disorders / Toru TAKUMI
Titre : A 15q11–q13 Duplication Mouse Model of Autism Spectrum Disorders Type de document : Texte imprimé et/ou numérique Auteurs : Toru TAKUMI, Auteur ; Keita FUKUMOTO, Auteur ; Jun NOMURA, Auteur Année de publication : 2013 Importance : p.401-408 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Autism spectrum disorders (ASD) are developmental brain disorders manifested by abnormal social behavior. Recent human genetic studies have revealed various copy number variations in ASD. Duplication of human chromosome 15q11–q13 is known to be most frequently associated with cytogenetic abnormality in ASD. Human chromosome 15q11–q13, also known to include imprinted genes, is well conserved to mouse chromosome 7. By a chromosome-engineering technique, we developed a mouse model for 15q11–q13 duplication. Paternally derived duplication (patDp/+) mice show abnormal behavior including abnormal social interaction, alteration in the developmental course of ultrasonic vocalizations, and resistance to change in reversal learning. Reduced serotonin (5-HT) is observed in the brain of patDp/+ mice during development, suggesting that this abnormal 5-HT level may affect social behavior. A 15q11–q13 duplication model mouse will facilitate future studies in genetics of developmental brain disorders and serve as an invaluable tool for therapeutic development. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 A 15q11–q13 Duplication Mouse Model of Autism Spectrum Disorders [Texte imprimé et/ou numérique] / Toru TAKUMI, Auteur ; Keita FUKUMOTO, Auteur ; Jun NOMURA, Auteur . - 2013 . - p.401-408.
Langues : Anglais (eng)
Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Autism spectrum disorders (ASD) are developmental brain disorders manifested by abnormal social behavior. Recent human genetic studies have revealed various copy number variations in ASD. Duplication of human chromosome 15q11–q13 is known to be most frequently associated with cytogenetic abnormality in ASD. Human chromosome 15q11–q13, also known to include imprinted genes, is well conserved to mouse chromosome 7. By a chromosome-engineering technique, we developed a mouse model for 15q11–q13 duplication. Paternally derived duplication (patDp/+) mice show abnormal behavior including abnormal social interaction, alteration in the developmental course of ultrasonic vocalizations, and resistance to change in reversal learning. Reduced serotonin (5-HT) is observed in the brain of patDp/+ mice during development, suggesting that this abnormal 5-HT level may affect social behavior. A 15q11–q13 duplication model mouse will facilitate future studies in genetics of developmental brain disorders and serve as an invaluable tool for therapeutic development. Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire Germ-cell-specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in autism spectrum disorders / Sawako Furukawa in Autism Research, 16-6 (June 2023)
[article]
Titre : Germ-cell-specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Sawako Furukawa, Auteur ; Jun NOMURA, Auteur ; Hiroaki Hanafusa, Auteur ; Hiroko Maegawa, Auteur ; Toru TAKUMI, Auteur Article en page(s) : p.1101-1110 Langues : Anglais (eng) Mots-clés : autism spectrum disorder bioinformatics copy number variants embryonic stem cells germ cells single-cell analysis Index. décimale : PER Périodiques Résumé : Abstract Accumulating epidemiological studies have suggested a positive association between advanced paternal age at conception and the increased risk of neurodevelopmental outcomes such as autism spectrum disorder (ASD) in their children. Recent biological studies using human sperm have identified increased de novo mutations in aged fathers, and hyper- or hypomethylation has been identified in the sperm from aged rodents. Dysregulation of DNA methylation in sperm may explain the transgenerational effects on the pathogenesis of ASD. However, compared to these epigenetic changes in the sperm of aged males, the effects of inherited predisposition from germ cells are largely unknown. Here, we use single-cell transcriptome data sets from 13 cell lines, including 12 ASD-associated CNVs models and control, that are performed neural differentiation from mouse embryonic stem cells. This study performed comprehensive bioinformatic analyses such as gene ontology (GO), network, pathway, and upstream regulator analyses. Through these analyses, we identify several susceptible pathways, such as chromatin and ubiquitin, in addition to translational and oxidative phosphorylation. Our results suggest that dysregulation of epigenetic chromosome remodeling and ubiquitin-proteasome pathway in the germ cell is a possible modulator for subsequent differentiated cells, sperm, and egg, as a risk factor for the neurodevelopmental disorder. En ligne : https://doi.org/10.1002/aur.2939 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=507
in Autism Research > 16-6 (June 2023) . - p.1101-1110[article] Germ-cell-specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in autism spectrum disorders [Texte imprimé et/ou numérique] / Sawako Furukawa, Auteur ; Jun NOMURA, Auteur ; Hiroaki Hanafusa, Auteur ; Hiroko Maegawa, Auteur ; Toru TAKUMI, Auteur . - p.1101-1110.
Langues : Anglais (eng)
in Autism Research > 16-6 (June 2023) . - p.1101-1110
Mots-clés : autism spectrum disorder bioinformatics copy number variants embryonic stem cells germ cells single-cell analysis Index. décimale : PER Périodiques Résumé : Abstract Accumulating epidemiological studies have suggested a positive association between advanced paternal age at conception and the increased risk of neurodevelopmental outcomes such as autism spectrum disorder (ASD) in their children. Recent biological studies using human sperm have identified increased de novo mutations in aged fathers, and hyper- or hypomethylation has been identified in the sperm from aged rodents. Dysregulation of DNA methylation in sperm may explain the transgenerational effects on the pathogenesis of ASD. However, compared to these epigenetic changes in the sperm of aged males, the effects of inherited predisposition from germ cells are largely unknown. Here, we use single-cell transcriptome data sets from 13 cell lines, including 12 ASD-associated CNVs models and control, that are performed neural differentiation from mouse embryonic stem cells. This study performed comprehensive bioinformatic analyses such as gene ontology (GO), network, pathway, and upstream regulator analyses. Through these analyses, we identify several susceptible pathways, such as chromatin and ubiquitin, in addition to translational and oxidative phosphorylation. Our results suggest that dysregulation of epigenetic chromosome remodeling and ubiquitin-proteasome pathway in the germ cell is a possible modulator for subsequent differentiated cells, sperm, and egg, as a risk factor for the neurodevelopmental disorder. En ligne : https://doi.org/10.1002/aur.2939 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=507