Planar Cell Polarity Gene Mutations in Autism Spectrum Disorder, Intellectual Disabilities, and Related Deletion/Duplication Syndromes / Nathalie SANS  

Public ISBD in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Titre : Planar Cell Polarity Gene Mutations in Autism Spectrum Disorder, Intellectual Disabilities, and Related Deletion/Duplication Syndromes Type de document : Texte imprimé et/ou numérique Auteurs : Nathalie SANS, Auteur ; Jérôme EZAN, Auteur ; Maïté M. MOREAU, Auteur ; Mireille MONTCOUQUIOL, Auteur Année de publication : 2016 Importance : p.189-219 Langues : Anglais (eng) Mots-clés : Autism  Developmental delay  Gene network  Intellectual disabilities  NTD  PCP  Scribble Index. décimale : SCI-D SCI-D - Neurosciences Résumé : In this chapter, we focus on inherited or de novo human mutations associated with autism spectrum disorder (ASD) or intellectual disability (ID) disorder, which involve members of the noncanonical planar cell polarity (PCP) pathway(s). Although most of these gene mutations give rise to multisystemic phenotypes, some mutations are involved in monogenic disorders. In the past 15 years, whereas they have been studied mostly in invertebrates, the involvement of PCP genes in numerous functions in mammals has been identified. Planar cell polarity genes have been implicated in brain development, sensory functions, synaptic plasticity, learning and memory, and social behavior, to cite a few. Thus, it is not surprising, given their impact on many crucial cellular functions, that by sequencing the exomes of ASD patients and their parents for studies of single nucleotide polymorphism association, global rare copy number variation, rare de novo variants, or de novo mutations, some PCP genes have emerged as susceptibility genes in ASD or ID syndromes and related pathologies. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00013-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA Planar Cell Polarity Gene Mutations in Autism Spectrum Disorder, Intellectual Disabilities, and Related Deletion/Duplication Syndromes [Texte imprimé et/ou numérique] / Nathalie SANS, Auteur ; Jérôme EZAN, Auteur ; Maïté M. MOREAU, Auteur ; Mireille MONTCOUQUIOL, Auteur . - 2016 . - p.189-219. Langues : Anglais (eng) Mots-clés : Autism  Developmental delay  Gene network  Intellectual disabilities  NTD  PCP  Scribble Index. décimale : SCI-D SCI-D - Neurosciences Résumé : In this chapter, we focus on inherited or de novo human mutations associated with autism spectrum disorder (ASD) or intellectual disability (ID) disorder, which involve members of the noncanonical planar cell polarity (PCP) pathway(s). Although most of these gene mutations give rise to multisystemic phenotypes, some mutations are involved in monogenic disorders. In the past 15 years, whereas they have been studied mostly in invertebrates, the involvement of PCP genes in numerous functions in mammals has been identified. Planar cell polarity genes have been implicated in brain development, sensory functions, synaptic plasticity, learning and memory, and social behavior, to cite a few. Thus, it is not surprising, given their impact on many crucial cellular functions, that by sequencing the exomes of ASD patients and their parents for studies of single nucleotide polymorphism association, global rare copy number variation, rare de novo variants, or de novo mutations, some PCP genes have emerged as susceptibility genes in ASD or ID syndromes and related pathologies. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00013-3 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301

Exemplaires

Code-barres	Cote	Support	Localisation	Section	Disponibilité
aucun exemplaire

---

1 (1 - 1 / 1)