{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:32:50Z","timestamp":1791289970884,"version":"4.3.0"},"reference-count":50,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2016,9,3]],"date-time":"2016-09-03T00:00:00Z","timestamp":1472860800000},"content-version":"vor","delay-in-days":368,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Cell Stem Cell"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1016\/j.stem.2015.07.017","type":"journal-article","created":{"date-parts":[[2015,8,13]],"date-time":"2015-08-13T18:29:16Z","timestamp":1439490556000},"page":"316-328","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":217,"title":["Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1"],"prefix":"10.1016","volume":"17","author":[{"given":"ChangHui","family":"Pak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamas","family":"Danko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yingsha","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason","family":"Aoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Garret","family":"Anderson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Maxeiner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fei","family":"Yi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marius","family":"Wernig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas\u00a0C.","family":"S\u00fcdhof","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.stem.2015.07.017_bib1","doi-asserted-by":"crossref","first-page":"18120","DOI":"10.1073\/pnas.1216398109","article-title":"Candidate autism gene screen identifies critical role for cell-adhesion molecule CASPR2 in dendritic arborization and spine development","volume":"109","author":"Anderson","year":"2012","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2015.07.017_bib2","doi-asserted-by":"crossref","first-page":"2525","DOI":"10.1073\/pnas.0611003104","article-title":"Deletion of CASK in mice is lethal and impairs synaptic function","volume":"104","author":"Atasoy","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2015.07.017_bib3","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1038\/nrm3448","article-title":"Induced\u00a0pluripotent stem cells: the new patient?","volume":"13","author":"Bellin","year":"2012","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.stem.2015.07.017_bib4","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1002\/ajmg.b.32148","article-title":"Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature","volume":"162B","author":"B\u00e9na","year":"2013","journal-title":"Am. J. Med. Genet. B. Neuropsychiatr. Genet."},{"key":"10.1016\/j.stem.2015.07.017_bib5","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/nbt.1529","article-title":"Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling","volume":"27","author":"Chambers","year":"2009","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.stem.2015.07.017_bib6","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1002\/ajmg.b.31063","article-title":"Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders","volume":"153B","author":"Ching","year":"2010","journal-title":"Am. J. Med. Genet. B. Neuropsychiatr. Genet."},{"key":"10.1016\/j.stem.2015.07.017_bib7","doi-asserted-by":"crossref","first-page":"52","DOI":"10.3389\/fnhum.2014.00052","article-title":"Balance within the Neurexin Trans-Synaptic Connexus Stabilizes Behavioral Control","volume":"8","author":"Clarke","year":"2014","journal-title":"Front. Hum. Neurosci."},{"key":"10.1016\/j.stem.2015.07.017_bib8","doi-asserted-by":"crossref","first-page":"103","DOI":"10.1111\/j.1399-0004.2011.01773.x","article-title":"Recent genomic advances in schizophrenia","volume":"81","author":"Doherty","year":"2012","journal-title":"Clin. Genet."},{"key":"10.1016\/j.stem.2015.07.017_bib9","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/ajmg.b.32204","article-title":"Sequence analysis of 17 NRXN1 deletions","volume":"165B","author":"Enggaard Hoeffding","year":"2014","journal-title":"Am. J. Med. Genet. B. Neuropsychiatr. Genet."},{"key":"10.1016\/j.stem.2015.07.017_bib10","doi-asserted-by":"crossref","first-page":"17998","DOI":"10.1073\/pnas.0910297106","article-title":"Mouse neurexin-1\u03b1 deletion causes correlated electrophysiological and behavioral changes consistent with cognitive impairments","volume":"106","author":"Etherton","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2015.07.017_bib11","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1038\/nature12929","article-title":"De novo mutations in schizophrenia implicate synaptic networks","volume":"506","author":"Fromer","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.stem.2015.07.017_bib12","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1007\/s00439-011-0975-z","article-title":"Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia","volume":"130","author":"Gauthier","year":"2011","journal-title":"Hum. Genet."},{"key":"10.1016\/j.stem.2015.07.017_bib13","doi-asserted-by":"crossref","first-page":"4557","DOI":"10.1172\/JCI66031","article-title":"The genomics of schizophrenia: update and implications","volume":"123","author":"Giusti-Rodr\u00edguez","year":"2013","journal-title":"J.\u00a0Clin. Invest."},{"key":"10.1016\/j.stem.2015.07.017_bib14","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1038\/ejhg.2009.220","article-title":"CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes","volume":"18","author":"Hackett","year":"2010","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.stem.2015.07.017_bib15","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1016\/j.neuron.2011.05.003","article-title":"Constructing and deconstructing stem cell models of neurological disease","volume":"70","author":"Han","year":"2011","journal-title":"Neuron"},{"key":"10.1016\/j.stem.2015.07.017_bib16","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/j.cell.2010.10.008","article-title":"Pluripotency and cellular reprogramming: facts, hypotheses, unresolved issues","volume":"143","author":"Hanna","year":"2010","journal-title":"Cell"},{"key":"10.1016\/j.stem.2015.07.017_bib17","doi-asserted-by":"crossref","first-page":"2488","DOI":"10.1523\/JNEUROSCI.16-08-02488.1996","article-title":"CASK: a novel dlg\/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins","volume":"16","author":"Hata","year":"1996","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.stem.2015.07.017_bib18","doi-asserted-by":"crossref","first-page":"6537","DOI":"10.1073\/pnas.1103388108","article-title":"Genetic correction and analysis of induced pluripotent stem cells from a patient with gyrate atrophy","volume":"108","author":"Howden","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2015.07.017_bib19","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1111\/jnc.12625","article-title":"Modeling human neurological disorders with induced pluripotent stem cells","volume":"129","author":"Imaizumi","year":"2014","journal-title":"J.\u00a0Neurochem."},{"key":"10.1016\/j.stem.2015.07.017_bib20","doi-asserted-by":"crossref","first-page":"3225","DOI":"10.1073\/pnas.0808387106","article-title":"A\u00a0rosette-type, self-renewing human ES cell-derived neural stem cell with potential for in\u00a0vitro instruction and synaptic integration","volume":"106","author":"Koch","year":"2009","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2015.07.017_bib21","doi-asserted-by":"crossref","first-page":"e3","DOI":"10.1093\/nar\/gnh009","article-title":"Facile methods for generating human somatic cell gene knockouts using recombinant adeno-associated viruses","volume":"32","author":"Kohli","year":"2004","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.stem.2015.07.017_bib22","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/j.schres.2011.08.007","article-title":"The putative functional rs1045881 marker of neurexin-1 in schizophrenia and clozapine response","volume":"132","author":"Lett","year":"2011","journal-title":"Schizophr. Res."},{"key":"10.1016\/j.stem.2015.07.017_bib23","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1016\/j.neuron.2005.09.006","article-title":"Autonomous function of synaptotagmin 1 in triggering synchronous release independent of asynchronous release","volume":"48","author":"Maximov","year":"2005","journal-title":"Neuron"},{"key":"10.1016\/j.stem.2015.07.017_bib24","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1038\/nature01755","article-title":"\u03b1-neurexins couple Ca2+ channels to synaptic vesicle exocytosis","volume":"423","author":"Missler","year":"2003","journal-title":"Nature"},{"key":"10.1016\/j.stem.2015.07.017_bib25","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1016\/j.gde.2013.02.003","article-title":"Recent developments in the genetics of autism spectrum disorders","volume":"23","author":"Murdoch","year":"2013","journal-title":"Curr. Opin. Genet. Dev."},{"key":"10.1016\/j.stem.2015.07.017_bib26","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1038\/ng.194","article-title":"Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum","volume":"40","author":"Najm","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.stem.2015.07.017_bib27","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1038\/nature11011","article-title":"Patterns and rates of exonic de novo mutations in autism spectrum disorders","volume":"485","author":"Neale","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.stem.2015.07.017_bib28","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1038\/nature10989","article-title":"Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations","volume":"485","author":"O\u2019Roak","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.stem.2015.07.017_bib29","doi-asserted-by":"crossref","first-page":"33930","DOI":"10.1074\/jbc.M110.150151","article-title":"Calmodulin suppresses synaptotagmin-2 transcription in cortical neurons","volume":"285","author":"Pang","year":"2010","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.stem.2015.07.017_bib30","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature10202","article-title":"Induction of human neuronal cells by defined transcription factors","volume":"476","author":"Pang","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.stem.2015.07.017_bib31","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1038\/nature12975","article-title":"A polygenic burden of rare disruptive mutations in schizophrenia","volume":"506","author":"Purcell","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.stem.2015.07.017_bib32","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1038\/nature08129","article-title":"Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells","volume":"460","author":"Raya","year":"2009","journal-title":"Nature"},{"key":"10.1016\/j.stem.2015.07.017_bib33","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1192\/bjp.bp.113.131052","article-title":"Analysis of copy number variations at 15 schizophrenia-associated loci","volume":"204","author":"Rees","year":"2014","journal-title":"Br. J. Psychiatry"},{"key":"10.1016\/j.stem.2015.07.017_bib34","doi-asserted-by":"crossref","first-page":"a005702","DOI":"10.1101\/cshperspect.a005702","article-title":"Short-term presynaptic plasticity","volume":"4","author":"Regehr","year":"2012","journal-title":"Cold Spring Harb. Perspect. Biol."},{"key":"10.1016\/j.stem.2015.07.017_bib35","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1016\/S0896-6273(00)80146-4","article-title":"Definition of the readily releasable pool of vesicles at hippocampal synapses","volume":"16","author":"Rosenmund","year":"1996","journal-title":"Neuron"},{"key":"10.1016\/j.stem.2015.07.017_bib36","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1006\/geno.2002.6734","article-title":"Analysis of the human neurexin genes: alternative splicing and the generation of protein diversity","volume":"79","author":"Rowen","year":"2002","journal-title":"Genomics"},{"key":"10.1016\/j.stem.2015.07.017_bib37","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1038\/nature10945","article-title":"De novo mutations revealed by whole-exome sequencing are strongly associated with autism","volume":"485","author":"Sanders","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.stem.2015.07.017_bib38","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1002\/hup.1146","article-title":"Influence of neurexin 1 (NRXN1) polymorphisms in clozapine response","volume":"25","author":"Souza","year":"2010","journal-title":"Hum. Psychopharmacol."},{"key":"10.1016\/j.stem.2015.07.017_bib39","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1038\/nature07456","article-title":"Neuroligins and neurexins link synaptic function to cognitive disease","volume":"455","author":"S\u00fcdhof","year":"2008","journal-title":"Nature"},{"key":"10.1016\/j.stem.2015.07.017_bib40","doi-asserted-by":"crossref","first-page":"849","DOI":"10.1006\/geno.2002.6780","article-title":"Structure and evolution of neurexin genes: insight into the mechanism of alternative splicing","volume":"79","author":"Tabuchi","year":"2002","journal-title":"Genomics"},{"key":"10.1016\/j.stem.2015.07.017_bib41","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.schres.2014.02.023","article-title":"Incomplete penetrance of NRXN1 deletions in families with schizophrenia","volume":"155","author":"Todarello","year":"2014","journal-title":"Schizophr. Res."},{"key":"10.1016\/j.stem.2015.07.017_bib42","doi-asserted-by":"crossref","first-page":"E1291","DOI":"10.1073\/pnas.1403244111","article-title":"Cartography of neurexin alternative splicing mapped by single-molecule long-read mRNA sequencing","volume":"111","author":"Treutlein","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2015.07.017_bib43","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1016\/0896-6273(95)90306-2","article-title":"Cartography of neurexins: more than 1000 isoforms generated by alternative splicing and expressed in distinct subsets of neurons","volume":"14","author":"Ullrich","year":"1995","journal-title":"Neuron"},{"key":"10.1016\/j.stem.2015.07.017_bib44","doi-asserted-by":"crossref","first-page":"6410","DOI":"10.1073\/pnas.90.14.6410","article-title":"Neurexin III \u03b1: extensive alternative splicing generates membrane-bound and soluble forms","volume":"90","author":"Ushkaryov","year":"1993","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2015.07.017_bib45","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1126\/science.1621094","article-title":"Neurexins: synaptic cell surface proteins related to the \u03b1-latrotoxin receptor and laminin","volume":"257","author":"Ushkaryov","year":"1992","journal-title":"Science"},{"key":"10.1016\/j.stem.2015.07.017_bib46","doi-asserted-by":"crossref","first-page":"13821","DOI":"10.1073\/pnas.0706199104","article-title":"Integrative genomic and functional analyses reveal neuronal subtype differentiation bias in human embryonic stem cell lines","volume":"104","author":"Wu","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.stem.2015.07.017_bib47","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1016\/j.neuron.2011.12.036","article-title":"Distinct neuronal coding schemes in memory revealed by selective erasure of fast synchronous synaptic transmission","volume":"73","author":"Xu","year":"2012","journal-title":"Neuron"},{"key":"10.1016\/j.stem.2015.07.017_bib48","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1038\/nbt1201-1129","article-title":"In\u00a0vitro differentiation of transplantable neural precursors from human embryonic stem cells","volume":"19","author":"Zhang","year":"2001","journal-title":"Nat. Biotechnol."},{"key":"10.1016\/j.stem.2015.07.017_bib49","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/j.neuron.2013.05.029","article-title":"Rapid single-step induction of functional neurons from human pluripotent stem cells","volume":"78","author":"Zhang","year":"2013","journal-title":"Neuron"},{"key":"10.1016\/j.stem.2015.07.017_bib50","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/j.stem.2009.05.023","article-title":"Gene targeting of a disease-related gene in human induced pluripotent stem and embryonic stem cells","volume":"5","author":"Zou","year":"2009","journal-title":"Cell Stem Cell"}],"container-title":["Cell Stem Cell"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1934590915003161?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1934590915003161?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,10]],"date-time":"2024-06-10T14:36:18Z","timestamp":1718030178000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1934590915003161"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":50,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["S1934590915003161"],"URL":"https:\/\/doi.org\/10.1016\/j.stem.2015.07.017","relation":{},"ISSN":["1934-5909"],"issn-type":[{"value":"1934-5909","type":"print"}],"subject":[],"published":{"date-parts":[[2015,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Human Neuropsychiatric Disease Modeling using Conditional Deletion Reveals Synaptic Transmission Defects Caused by Heterozygous Mutations in NRXN1","name":"articletitle","label":"Article Title"},{"value":"Cell Stem Cell","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.stem.2015.07.017","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.stem.2015.08.013","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}