[图书][B] Novel Roles for ANKS1B in the Pathogenesis of Neurodevelopmental Disorders

AU Carbonell - 2020 - search.proquest.com
Neurodevelopmental disorders, including autism spectrum disorder (ASD), have complex
polygenic and environmental etiologies. Single-gene mutations in patients can help define …

[HTML][HTML] Haploinsufficiency in the ANKS1B gene encoding AIDA-1 leads to a neurodevelopmental syndrome

AU Carbonell, CH Cho, JO Tindi, PA Counts… - Nature …, 2019 - nature.com
Neurodevelopmental disorders, including autism spectrum disorder, have complex
polygenic etiologies. Single-gene mutations in patients can help define genetic factors and …

[HTML][HTML] ANKS1B encoded AIDA-1 regulates social behaviors by controlling oligodendrocyte function

CH Cho, IV Deyneko, D Cordova-Martinez… - Nature …, 2023 - nature.com
Heterozygous deletions in the ANKS1B gene cause ANKS1B neurodevelopmental
syndrome (ANDS), a rare genetic disease characterized by autism spectrum disorder (ASD) …

[HTML][HTML] Autism-associated ANK2 regulates embryonic neurodevelopment

S Kawano, M Baba, H Fukushima, D Miura… - Biochemical and …, 2022 - Elsevier
Autism spectrum disorder (ASD) is a neurodevelopmental condition characterized by altered
social communication, restricted interests, and stereotypic behaviors. Although the …

[PDF][PDF] Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders

G Pintacuda, YHH Hsu, K Tsafou, KW Li, JM Martín… - Cell Genomics, 2023 - cell.com
Autism spectrum disorders (ASDs) have been linked to genes with enriched expression in
the brain, but it is unclear how these genes converge into cell-type-specific networks. We …

Outlining the Diverse Etiologies of Autism Spectrum Disorder

AD Munoz-Valverde - 2022 - escholarship.org
Autism Spectrum Disorder (ASD) is a disorder defined by the heterogeneity of its
presentations, making diagnosis and treatment for those who need it difficult. Here I examine …

[HTML][HTML] Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism

SC Dhamne, JL Silverman, CE Super, SHT Lammers… - Molecular autism, 2017 - Springer
Background Autism spectrum disorder (ASD) is a clinically and biologically heterogeneous
condition characterized by social, repetitive, and sensory behavioral abnormalities. No …

Autism genetics perturb prenatal neurodevelopment through a hierarchy of broadly-expressed and brain-specific genes

A Chiang - 2020 - augusta.elsevierpure.com
Numerous genes are associated with autism spectrum disorder (ASD); however, it remains
unclear how most ASD risk genes influence neurodevelopment and result in similar traits …

The autism-associated gene SYNGAP1 regulates human cortical neurogenesis

G Quadrato, M Birtele, A Del Dosso, T Xu, T Nguyen… - 2022 - researchsquare.com
Autism spectrum disorder (ASD) is a genetically heterogeneous disorder linked with rare,
inherited and de novo mutations occurring in two main functional gene categories: gene …

Current perspectives in autism spectrum disorder: from genes to therapy

M Chahrour, BJ O'Roak, E Santini… - Journal of …, 2016 - Soc Neuroscience
Autism spectrum disorder (ASD) is a constellation of neurodevelopmental presentations with
high heritability and both phenotypic and genetic heterogeneity. To date, mutations in …