{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T03:49:05Z","timestamp":1793245745911,"version":"4.5.0"},"reference-count":55,"publisher":"National Academy of Sciences","issue":"42","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2014,10,21]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>\n                    Truncating mutation of chromodomain helicase DNA-binding protein 8 (\n                    <jats:italic>CHD8<\/jats:italic>\n                    ) represents one of the strongest known risk factors for autism spectrum disorder (ASD). We mimicked the effects of such heterozygous loss-of-function mutations in neural progenitor cells and integrated RNA sequencing with genome-wide delineation of CHD8 binding. Our results reveal that the molecular mechanism by which\n                    <jats:italic>CHD8<\/jats:italic>\n                    alters neurodevelopmental pathways may involve both direct and indirect effects, the latter involving down-regulation following\n                    <jats:italic>CHD8<\/jats:italic>\n                    suppression. We also find that\n                    <jats:italic>chd8<\/jats:italic>\n                    suppression in zebrafish results in macrocephaly, consistent with observations in patients harboring loss-of-function mutations. We show that reduced expression of\n                    <jats:italic>CHD8<\/jats:italic>\n                    impacts a variety of other functionally distinct ASD-associated genes, suggesting that the diverse functions of ASD risk factors may constitute multiple means of triggering a smaller number of final common pathways.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1405266111","type":"journal-article","created":{"date-parts":[[2014,10,7]],"date-time":"2014-10-07T22:52:51Z","timestamp":1412722371000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":359,"title":["<i>CHD8<\/i>\n                    regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors"],"prefix":"10.1073","volume":"111","author":[{"given":"Aarathi","family":"Sugathan","sequence":"first","affiliation":[{"name":"Molecular Neurogenetics Unit and"},{"name":"Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114;"},{"name":"Departments of cNeurology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Biagioli","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit and"},{"name":"Departments of cNeurology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Golzio","sequence":"additional","affiliation":[{"name":"Center for Human Disease Modeling and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serkan","family":"Erdin","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit and"},{"name":"Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ian","family":"Blumenthal","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit and"},{"name":"Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Poornima","family":"Manavalan","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Ragavendran","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit and"},{"name":"Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Harrison","family":"Brand","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit and"},{"name":"Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114;"},{"name":"Departments of cNeurology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Lucente","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Miles","sequence":"additional","affiliation":[{"name":"Departments of ePediatrics,"},{"name":"Medical Genetics, and"},{"name":"Pathology, The Thompson Center for Autism and Neurodevelopmental Disorders, University of Missouri Hospitals and Clinics, Columbia, MO 65201;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven D.","family":"Sheridan","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit and"},{"name":"Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114;"},{"name":"Departments of cNeurology and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexei","family":"Stortchevoi","sequence":"additional","affiliation":[{"name":"Molecular Neurogenetics Unit and"},{"name":"Psychiatric and Neurodevelopmental Genetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, MA 02114;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manolis","family":"Kellis","sequence":"additional","affiliation":[{"name":"Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, MA 02139; 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