{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:35:05Z","timestamp":1792154105726,"version":"4.4.0"},"reference-count":48,"publisher":"American Society for Clinical Investigation","issue":"21","license":[{"start":{"date-parts":[[2020,11,5]],"date-time":"2020-11-05T00:00:00Z","timestamp":1604534400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the National Key Research and Development Program of China","award":["2016YFC0905100"],"award-info":[{"award-number":["2016YFC0905100"]}]},{"name":"Foundation of Shanghai Municipal Commission of Health and Family Planning","award":["GDEK201701"],"award-info":[{"award-number":["GDEK201701"]}]},{"DOI":"10.13039\/501100010167","name":"Shanghai Shen Kang Hospital Development Center","doi-asserted-by":"crossref","award":["SHDC12017110"],"award-info":[{"award-number":["SHDC12017110"]}],"id":[{"id":"10.13039\/501100010167","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"crossref","award":["31625013,91732302,81471484"],"award-info":[{"award-number":["31625013,91732302,81471484"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Shanghai Brain-Intelligence Project from STCSM","award":["16JC1420501"],"award-info":[{"award-number":["16JC1420501"]}]},{"name":"Strategic Priority Research Program of the Chinese Academy of Sciences","award":["XDBS01060200"],"award-info":[{"award-number":["XDBS01060200"]}]},{"name":"Program of Shanghai Academic Research Leader, the Open Large Infrastructure Research of Chinese Academy of Sciences, and the Shanghai Municipal Science and Technology Major Project","award":["2018SHZDZX05"],"award-info":[{"award-number":["2018SHZDZX05"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,11,5]]},"abstract":"<jats:p>\n                    Mutations of\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    were associated with myelination disorders, suggesting the role of\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    in myelination processes. Whether\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    may have a role in early cortical neuronal development is largely unknown. In this study, we identified 4 compound heterozygous mutations of\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    in 2 Chinese families. Using mouse models, we found that\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    is highly expressed in neurons and is located predominantly in MAP2\n                    <jats:sup>+<\/jats:sup>\n                    neurons during the early developmental stage. Importantly,\n                    <jats:italic>Cntnap1<\/jats:italic>\n                    deficiency results in aberrant dendritic growth and spine development in vitro and in vivo, and it delayed migration of cortical neurons during early development. Finally, we found that the number of parvalbumin\n                    <jats:sup>+<\/jats:sup>\n                    neurons in the cortex and hippocampus of\n                    <jats:italic>Cntnap1<\/jats:italic>\n                    <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    mice is strikingly increased by P15, suggesting that excitation\/inhibition balance is impaired. Together, this evidence elucidates a critical function of\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    in cortical development, providing insights underlying molecular and circuit mechanisms of\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    -related disease.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.135697","type":"journal-article","created":{"date-parts":[[2020,11,4]],"date-time":"2020-11-04T11:01:18Z","timestamp":1604487678000},"source":"Crossref","is-referenced-by-count":20,"title":["Mutations of CNTNAP1 led to defects in neuronal development"],"prefix":"10.1172","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0806-0377","authenticated-orcid":true,"given":"Wanxing","family":"Li","sequence":"first","affiliation":[{"name":"Division of Neonatology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Yang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects,"},{"name":"Division of Endocrinology, Genetics and Metabolic Disease, and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuanqing","family":"Tang","sequence":"additional","affiliation":[{"name":"Stem Cell Research Center, Institute of Pediatrics, Children\u2019s Hospital, Fudan University, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaiyi","family":"Liu","sequence":"additional","affiliation":[{"name":"Division of Neonatology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4941-5736","authenticated-orcid":true,"given":"Yulan","family":"Lu","sequence":"additional","affiliation":[{"name":"Division of Neonatology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9992-6457","authenticated-orcid":true,"given":"Huijun","family":"Wang","sequence":"additional","affiliation":[{"name":"Key Laboratory of Birth Defects,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kai","family":"Yan","sequence":"additional","affiliation":[{"name":"Division of Neonatology,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zilong","family":"Qiu","sequence":"additional","affiliation":[{"name":"Institute of Neuroscience, State Key Laboratory of Neuroscience,"},{"name":"CAS Center for Excellence in Brain Science and Intelligence Technology,"},{"name":"Shanghai Center for Brain Science and Brain-Inspired Intelligence Technology,"},{"name":"Chinese Academy of Sciences, and"},{"name":"National Clinical Research Center for Aging and Medicine, Huashan Hospital, Fudan University, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenhao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Division of Neonatology,"},{"name":"Key Laboratory of Birth Defects,"},{"name":"Key Laboratory of Neonatal Diseases, Ministry of Health, Children\u2019s Hospital of Fudan University, Shanghai, China."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"232","published-online":{"date-parts":[[2020,11,5]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(98)01267-3"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)00294-X"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200305018"},{"key":"B4","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.5225-09.2010"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.23197"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1016\/j.conb.2010.08.009"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2011.08.040"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1216398109"},{"key":"B9","doi-asserted-by":"crossref","DOI":"10.1016\/j.nbd.2019.104486","article-title":"The critical role of ASD-related gene CNTNAP3 in regulating synaptic development and social behavior in mice","volume":"130","author":"Tong","year":"2019","journal-title":"Neurobiol Dis"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1089\/scd.2014.0261"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1038\/nature13248"},{"issue":"2","key":"B12","first-page":"1369","article-title":"Caspr Controls the Temporal Specification of Neural Progenitor Cells through Notch Signaling in the Developing Mouse Cerebral Cortex","volume":"27","author":"Wu","year":"2017","journal-title":"Cereb Cortex"},{"key":"B13","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200309147"},{"key":"B14","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/16.5.978"},{"key":"B15","doi-asserted-by":"publisher","DOI":"10.1038\/nn.4594"},{"key":"B16","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1111\/j.1471-4159.2005.03507.x","article-title":"Molecular characterization and comparison of the components and multiprotein complexes in the postsynaptic proteome","volume":"97 Suppl 1","author":"Collins","year":"2006","journal-title":"J Neurochem"},{"key":"B17","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.5657-09.2010"},{"key":"B18","doi-asserted-by":"publisher","DOI":"10.1016\/S1044-7431(02)00014-3"},{"key":"B19","doi-asserted-by":"crossref","DOI":"10.3389\/fnmol.2018.00422","article-title":"Contactin-1\/F3 Regulates Neuronal Migration and Morphogenesis Through Modulating RhoA Activity","volume":"11","author":"Chen","year":"2018","journal-title":"Front Mol Neurosci"},{"key":"B20","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2017.07.019"},{"issue":"Pt 16","key":"B21","doi-asserted-by":"crossref","first-page":"3456","DOI":"10.1242\/jcs.03094","article-title":"Competition and cooperation between tenascin-R, lecticans and contactin 1 regulate neurite growth and morphology","volume":"119","author":"Zacharias","year":"2006","journal-title":"J Cell Sci"},{"key":"B22","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.4149-12.2013"},{"key":"B23","doi-asserted-by":"publisher","DOI":"10.1177\/0883073818776157"},{"issue":"5","key":"B24","doi-asserted-by":"crossref","first-page":"E28","DOI":"10.1002\/mus.26658","article-title":"CNTNAP1 mutations in an adult with Charcot Marie Tooth disease","volume":"60","author":"Freed","year":"2019","journal-title":"Muscle Nerve"},{"key":"B25","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000144"},{"key":"B26","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.02.006"},{"issue":"9","key":"B27","doi-asserted-by":"crossref","first-page":"2279","DOI":"10.1093\/hmg\/ddt618","article-title":"Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects","volume":"23","author":"Laqu\u00e9rriere","year":"2014","journal-title":"Hum Mol Genet"},{"key":"B28","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2018.12.014"},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0110-x"},{"key":"B30","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25416"},{"key":"B31","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.142"},{"key":"B32","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlw093"},{"key":"B33"},{"key":"B34","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-198805000-00003"},{"key":"B35","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.19-17-07516.1999"},{"key":"B36","doi-asserted-by":"publisher","DOI":"10.1016\/j.neures.2018.05.006"},{"key":"B37","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2004.05.001"},{"key":"B38","doi-asserted-by":"publisher","DOI":"10.1016\/S0248-4900(02)00006-0"},{"key":"B39","doi-asserted-by":"publisher","DOI":"10.2741\/1214"},{"key":"B40","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)81126-5"},{"key":"B41","unstructured":"Harris B, et al. Shambling 5 Jackson: a new mutation in Cntnap1. MGI Direct Data Submiss. 2012. http:\/\/www.informatics.jax.org\/reference\/J:181679 MGI website. Accessed 10\/13\/20"},{"key":"B42","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2008.04.001"},{"key":"B43","doi-asserted-by":"publisher","DOI":"10.1093\/cercor\/10.10.981"},{"key":"B44"},{"key":"B45","doi-asserted-by":"publisher","DOI":"10.1038\/nn1132"},{"key":"B46","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2006.276"},{"key":"B47","doi-asserted-by":"publisher","DOI":"10.1038\/cr.2017.81"},{"key":"B48","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2016.04.032"}],"container-title":["JCI Insight"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/insight.jci.org\/articles\/view\/135697\/files\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T00:50:48Z","timestamp":1779151848000},"score":1,"resource":{"primary":{"URL":"https:\/\/insight.jci.org\/articles\/view\/135697"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,5]]},"references-count":48,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2020,11,5]]},"published-print":{"date-parts":[[2020,11,5]]}},"alternative-id":["10.1172\/jci.insight.135697"],"URL":"https:\/\/doi.org\/10.1172\/jci.insight.135697","relation":{},"ISSN":["2379-3708"],"issn-type":[{"value":"2379-3708","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11,5]]},"article-number":"e135697"}}