Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice / Wei LI in Autism - Open Access, 2-S ([01/12/2012])  

Public ISBD [article]  inAutism - Open Access > 2-S [01/12/2012] . - 7 p. Titre : Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice Type de document : texte imprimé Auteurs : Wei LI, Auteur ; Lucas POZZO-MILLER, Auteur Article en page(s) : 7 p. Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is one of the leading causes of intellectual disabilities in women. In addition to a few autistic features, characteristic symptoms that distinguish from classical autism include stereotypic hand movements, motor coordination deficits, breathing abnormalities, seizures and loss of acquired speech as well as purposeful hand use. RTT is highly associated with MECP2, the gene encoding for the transcription factor that binds methylated Cytosine in C-p-G islands in DNA, controlling gene expression and chromatin remodeling. In this review, we will briefly discuss current perspectives on MeCP2 function, and then will describe in detail novel mouse models of RTT based on loss-of-function of Mecp2 and their use for establishing rescue models, wherein we pay close attention to behavioral and morphological phenotypes. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 [article] Beyond Widespread Mecp2 Deletions to Model Rett Syndrome: Conditional Spatio-Temporal Knockout, Single-Point Mutations and Transgenic Rescue Mice [texte imprimé] / Wei LI, Auteur ; Lucas POZZO-MILLER, Auteur . - 7 p. Langues : Anglais (eng) in Autism - Open Access > 2-S [01/12/2012] . - 7 p. Index. décimale : PER Périodiques Résumé : Rett syndrome (RTT) is one of the leading causes of intellectual disabilities in women. In addition to a few autistic features, characteristic symptoms that distinguish from classical autism include stereotypic hand movements, motor coordination deficits, breathing abnormalities, seizures and loss of acquired speech as well as purposeful hand use. RTT is highly associated with MECP2, the gene encoding for the transcription factor that binds methylated Cytosine in C-p-G islands in DNA, controlling gene expression and chromatin remodeling. In this review, we will briefly discuss current perspectives on MeCP2 function, and then will describe in detail novel mouse models of RTT based on loss-of-function of Mecp2 and their use for establishing rescue models, wherein we pay close attention to behavioral and morphological phenotypes. En ligne : https://dx.doi.org/10.4172/2165-7890.S1-005 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409

Commentary: Childhood chronic neurodevelopmental disorders and the crisis of misaligned research funding / Daniel B. CAMPBELL in Research in Autism, 128 (October 2025)  

Public ISBD [article]  inResearch in Autism > 128 (October 2025) . - p.202715 Titre : Commentary: Childhood chronic neurodevelopmental disorders and the crisis of misaligned research funding Type de document : texte imprimé Auteurs : Daniel B. CAMPBELL, Auteur ; Lucas POZZO-MILLER, Auteur ; Jeremy W. PROKOP, Auteur Article en page(s) : p.202715 Langues : Anglais (eng) Index. décimale : PER Périodiques En ligne : https://doi.org/10.1016/j.reia.2025.202715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570 [article] Commentary: Childhood chronic neurodevelopmental disorders and the crisis of misaligned research funding [texte imprimé] / Daniel B. CAMPBELL, Auteur ; Lucas POZZO-MILLER, Auteur ; Jeremy W. PROKOP, Auteur . - p.202715. Langues : Anglais (eng) in Research in Autism > 128 (October 2025) . - p.202715 Index. décimale : PER Périodiques En ligne : https://doi.org/10.1016/j.reia.2025.202715 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=570

Rett syndrome: On Clinical and Genetic Features, and Experimental Models based on Mecp2 dysfunction / Gaston CALFA

Public ISBD in The Autisms / Craig M. POWELL Titre : Rett syndrome: On Clinical and Genetic Features, and Experimental Models based on Mecp2 dysfunction Type de document : texte imprimé Auteurs : Gaston CALFA, Auteur ; Alan K. PERCY, Auteur ; Lucas POZZO-MILLER, Auteur Année de publication : 2013 Importance : p.57-90 Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189 in The Autisms / Craig M. POWELL Rett syndrome: On Clinical and Genetic Features, and Experimental Models based on Mecp2 dysfunction [texte imprimé] / Gaston CALFA, Auteur ; Alan K. PERCY, Auteur ; Lucas POZZO-MILLER, Auteur . - 2013 . - p.57-90. Langues : Anglais (eng) Index. décimale : SCI-D SCI-D - Neurosciences Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=189

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