| http://purl.uniprot.org/citations/34471112 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/34471112 | http://www.w3.org/2000/01/rdf-schema#comment | "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."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.org/dc/terms/identifier | "doi:10.1038/s41467-021-24358-4"xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Sun Y."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Xu B."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Zhu H."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Brigatti K.W."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Javitch J.A."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Markx S."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Corneo B."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Kellendonk C."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Kushner S.A."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Tomer R."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Genestine M."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Cortese G.P."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Strauss K."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Provenzano F."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Llapashtica C."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Brundu F."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "Migliori B."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/author | "de Jong J.O."xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/date | "2021"xsd:gYear |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/name | "Nat Commun"xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/pages | "4087"xsd:string |
| http://purl.uniprot.org/citations/34471112 | http://purl.uniprot.org/core/title | "Cortical overgrowth in a preclinical forebrain organoid model of CNTNAP2-associated autism spectrum disorder."xsd:string |