[引用][C] Investigation into the autism-associated gene SHANK3 in human stem cell derived neurons and the impact of its deletion on synapses
SE Taylor - 2019 - King's College London
Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development
Background One of the causal mechanisms underlying neurodevelopmental disorders
(NDDs) is chromatin modification and the genes that regulate chromatin. AT-rich interactive …
(NDDs) is chromatin modification and the genes that regulate chromatin. AT-rich interactive …
[PDF][PDF] SHANK1 deletions in males with autism spectrum disorder
Recent studies have highlighted the involvement of rare (< 1% frequency) copy-number
variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); …
variations and point mutations in the genetic etiology of autism spectrum disorder (ASD); …
Regulatory genes and pathways disrupted in autism spectrum disorders
F Ayhan, G Konopka - Progress in Neuro-Psychopharmacology and …, 2019 - Elsevier
Autism spectrum disorder (ASD) is a highly prevalent and complex genetic disorder. The
complex genetic make-up of ASD has been extensively studied and both common and rare …
complex genetic make-up of ASD has been extensively studied and both common and rare …
The emerging picture of autism spectrum disorder: genetics and pathology
JA Chen, O Peñagarikano, TG Belgard… - Annual Review of …, 2015 - annualreviews.org
Autism spectrum disorder (ASD) is defined by impaired social interaction and
communication accompanied by stereotyped behaviors and restricted interests. Although …
communication accompanied by stereotyped behaviors and restricted interests. Although …
[PDF][PDF] Lost in translation: traversing the complex path from genomics to therapeutics in autism spectrum disorder
N Sestan - Neuron, 2018 - cell.com
Recent progress in the genomics of non-syndromic autism spectrum disorder (nsASD)
highlights rare, large-effect, germline, heterozygous de novo coding mutations. This …
highlights rare, large-effect, germline, heterozygous de novo coding mutations. This …
Genetic etiologies of autism: Unpacking pathogenic mechanisms and characteristics
This chapter provides an overview of historical and modern approaches for understanding
genetic causes of autism spectrum disorder (ASD), thought to account for≥ 10%–30% of …
genetic causes of autism spectrum disorder (ASD), thought to account for≥ 10%–30% of …
Reflections on the genetics-first approach to advancements in molecular genetic and neurobiological research on neurodevelopmental disorders
Abstract Background Neurodevelopmental disorders (NDDs), including autism spectrum
disorder (ASD) and intellectual disability (ID), are common diagnoses with highly …
disorder (ASD) and intellectual disability (ID), are common diagnoses with highly …
ASH1L is Necessary for Normal Development of Upper Layer Cortical Neurons
KP Toolan - 2024 - deepblue.lib.umich.edu
Over 100 genes have been implicated in the genetic etiology of autism spectrum disorder
(ASD). Many high confidence ASD genes are involved in chromatin remodeling, histone …
(ASD). Many high confidence ASD genes are involved in chromatin remodeling, histone …
Criss‐crossing autism spectrum disorder and adult neurogenesis
F Bicker, L Nardi, J Maier, V Vasic… - Journal of …, 2021 - Wiley Online Library
Autism spectrum disorder (ASD) comprises a group of multifactorial neurodevelopmental
disorders primarily characterized by deficits in social interaction and repetitive behavior …
disorders primarily characterized by deficits in social interaction and repetitive behavior …