[article]
| Titre : |
Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Agnese DI NAPOLI, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur |
| Article en page(s) : |
p.1-7 |
| Langues : |
Anglais (eng) |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Autism Spectrum Conditions (ASC) are neurodevelopmental conditions characterized by difficulties in communication and social interaction, alongside unusually repetitive behaviours and narrow interests. Asperger Syndrome (AS) is one subgroup of ASC and differs from classic autism in that in AS there is no language or general cognitive delay. Genetic, epigenetic and environmental factors are implicated in ASC and genes involved in neural connectivity and neurodevelopment are good candidates for studying the susceptibility to ASC. The aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to hypoxia. A mutation in this gene has been identified in individuals with ASC and single nucleotide polymorphisms (SNPs) have been nominally associated with AS and autistic traits in previous studies. |
| En ligne : |
http://dx.doi.org/10.1186/s13229-015-0009-0 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 |
in Molecular Autism > (February 2015) . - p.1-7
[article] Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome [Texte imprimé et/ou numérique] / Agnese DI NAPOLI, Auteur ; Varun WARRIER, Auteur ; Simon BARON-COHEN, Auteur ; Bhismadev CHAKRABARTI, Auteur . - p.1-7. Langues : Anglais ( eng) in Molecular Autism > (February 2015) . - p.1-7
| Index. décimale : |
PER Périodiques |
| Résumé : |
Autism Spectrum Conditions (ASC) are neurodevelopmental conditions characterized by difficulties in communication and social interaction, alongside unusually repetitive behaviours and narrow interests. Asperger Syndrome (AS) is one subgroup of ASC and differs from classic autism in that in AS there is no language or general cognitive delay. Genetic, epigenetic and environmental factors are implicated in ASC and genes involved in neural connectivity and neurodevelopment are good candidates for studying the susceptibility to ASC. The aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2) gene encodes a transcription factor involved in neurodevelopmental processes, neuronal connectivity and cellular responses to hypoxia. A mutation in this gene has been identified in individuals with ASC and single nucleotide polymorphisms (SNPs) have been nominally associated with AS and autistic traits in previous studies. |
| En ligne : |
http://dx.doi.org/10.1186/s13229-015-0009-0 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=277 |
|
Genetic variant rs17225178 in the ARNT2 gene is associated with Asperger Syndrome in Molecular Autism, (February 2015)
