[article] 
inMolecular Autism > (April 2014) . - p.1-14

Titre :	Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice
Type de document :	Texte imprimé et/ou numérique
Auteurs :	Xiaoming WANG, Auteur ; Qiong XU, Auteur ; Alexandra L. BEY, Auteur ; Yoonji LEE, Auteur ; Yong-hui JIANG, Auteur
Article en page(s) :	p.1-14
Langues :	Anglais (eng)
Index. décimale :	PER Périodiques
Résumé :	Considerable clinical heterogeneity has been well documented amongst individuals with autism spectrum disorders (ASD). However, little is known about the biological mechanisms underlying phenotypic diversity. Genetic studies have established a strong causal relationship between ASD and molecular defects in the SHANK3 gene. Individuals with various defects of SHANK3 display considerable clinical heterogeneity. Different lines of Shank3 mutant mice with deletions of different portions of coding exons have been reported recently. Variable synaptic and behavioral phenotypes have been reported in these mice, which makes the interpretations for these data complicated without the full knowledge of the complexity of the Shank3 transcript structure.
En ligne :	http://dx.doi.org/10.1186/2040-2392-5-30
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276

[article] Transcriptional and functional complexity of Shank3 provides a molecular framework to understand the phenotypic heterogeneity of SHANK3 causing autism and Shank3 mutant mice [Texte imprimé et/ou numérique] / Xiaoming WANG, Auteur ; Qiong XU, Auteur ; Alexandra L. BEY, Auteur ; Yoonji LEE, Auteur ; Yong-hui JIANG, Auteur . - p.1-14.
Langues : Anglais (eng)
in Molecular Autism > (April 2014) . - p.1-14

Index. décimale :	PER Périodiques
Résumé :	Considerable clinical heterogeneity has been well documented amongst individuals with autism spectrum disorders (ASD). However, little is known about the biological mechanisms underlying phenotypic diversity. Genetic studies have established a strong causal relationship between ASD and molecular defects in the SHANK3 gene. Individuals with various defects of SHANK3 display considerable clinical heterogeneity. Different lines of Shank3 mutant mice with deletions of different portions of coding exons have been reported recently. Variable synaptic and behavioral phenotypes have been reported in these mice, which makes the interpretations for these data complicated without the full knowledge of the complexity of the Shank3 transcript structure.
En ligne :	http://dx.doi.org/10.1186/2040-2392-5-30
Permalink :	https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276