Matches in SemOpenAlex for { <https://semopenalex.org/work/W3196484924> ?p ?o ?g. }
- W3196484924 abstract "Abstract We utilized forebrain organoids generated from induced pluripotent stem cells of patients with a syndromic form of Autism Spectrum Disorder (ASD) with a homozygous protein-truncating mutation in CNTNAP2 , to study its effects on embryonic cortical development. Patients with this mutation present with clinical characteristics of brain overgrowth. Patient-derived forebrain organoids displayed an increase in volume and total cell number that is driven by increased neural progenitor proliferation. Single-cell RNA sequencing revealed PFC-excitatory neurons to be the key cell types expressing CNTNAP2 . Gene ontology analysis of differentially expressed genes (DEgenes) corroborates aberrant cellular proliferation. Moreover, the DEgenes are enriched for ASD-associated genes. The cell-type-specific signature genes of the CNTNAP2 -expressing neurons are associated with clinical phenotypes previously described in patients. The organoid overgrowth phenotypes were largely rescued after correction of the mutation using CRISPR-Cas9. This CNTNAP2 -organoid model provides opportunity for further mechanistic inquiry and development of new therapeutic strategies for ASD." @default.
- W3196484924 created "2021-09-13" @default.
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- W3196484924 date "2021-09-01" @default.
- W3196484924 modified "2023-10-15" @default.
- W3196484924 title "Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder" @default.
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- W3196484924 doi "https://doi.org/10.1038/s41467-021-24358-4" @default.
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