[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 …
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 …
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) …
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 …
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
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 …
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 …
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 …
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 …
unclear how most ASD risk genes influence neurodevelopment and result in similar traits …
The autism-associated gene SYNGAP1 regulates human cortical neurogenesis
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 …
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 …
high heritability and both phenotypic and genetic heterogeneity. To date, mutations in …