Mouse Models of 22q11.2-Associated Autism Spectrum Disorder / Noboru HIROI in Autism - Open Access, 2-S ([01/12/2012])  

Public ISBD [article]  inAutism - Open Access > 2-S [01/12/2012] . - 9 p. Titre : Mouse Models of 22q11.2-Associated Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Noboru HIROI, Auteur ; Takeshi HIRAMOTO, Auteur ; Kathryn M. HARPER, Auteur ; Go SUZUKI, Auteur ; Shuken BOKU, Auteur Article en page(s) : 9 p. Langues : Anglais (eng) Mots-clés : Tbx1  Sept5  22q11.2  Syndromic ASD  Copy number variation Index. décimale : PER Périodiques Résumé : Copy number variation (CNV) of human chromosome 22q11.2 is associated with an elevated rate of autism spectrum disorder (ASD) and represents one of syndromic ASDs with rare genetic variants. However, the precise genetic basis of this association remains unclear due to its relatively large hemizygous and duplication region, including more than 30 genes. Previous studies using genetic mouse models suggested that although not all 22q11.2 genes contribute to ASD symptomatology, more than one 22q11.2 genes have distinct phenotypic targets for ASD symptoms. Our data show that deficiency of the two 22q11.2 genes Tbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Mouse Models of 22q11.2-Associated Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Noboru HIROI, Auteur ; Takeshi HIRAMOTO, Auteur ; Kathryn M. HARPER, Auteur ; Go SUZUKI, Auteur ; Shuken BOKU, Auteur . - 9 p. Langues : Anglais (eng) in Autism - Open Access > 2-S [01/12/2012] . - 9 p. Mots-clés : Tbx1  Sept5  22q11.2  Syndromic ASD  Copy number variation Index. décimale : PER Périodiques Résumé : Copy number variation (CNV) of human chromosome 22q11.2 is associated with an elevated rate of autism spectrum disorder (ASD) and represents one of syndromic ASDs with rare genetic variants. However, the precise genetic basis of this association remains unclear due to its relatively large hemizygous and duplication region, including more than 30 genes. Previous studies using genetic mouse models suggested that although not all 22q11.2 genes contribute to ASD symptomatology, more than one 22q11.2 genes have distinct phenotypic targets for ASD symptoms. Our data show that deficiency of the two 22q11.2 genes Tbx1 and Sept5 causes distinct phenotypic sets of ASD symptoms. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-001 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

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