{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T11:43:43Z","timestamp":1792755823990,"version":"4.5.0"},"reference-count":45,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,6,1]],"date-time":"2020-06-01T00:00:00Z","timestamp":1590969600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012336","name":"Major State Basic Research Development Program of China","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012336","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Genetics and Genomics"],"published-print":{"date-parts":[[2020,6]]},"DOI":"10.1016\/j.jgg.2020.06.003","type":"journal-article","created":{"date-parts":[[2020,6,27]],"date-time":"2020-06-27T00:48:15Z","timestamp":1593218895000},"page":"301-310","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":12,"title":["DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway"],"prefix":"10.1016","volume":"47","author":[{"given":"Lingling","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiqi","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Shi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunqian","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yunping","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Finnell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Jin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9248-0720","authenticated-orcid":false,"given":"Huili","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wufan","family":"Tao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9422-5264","authenticated-orcid":false,"given":"Hongyan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jgg.2020.06.003_bib1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1002\/bdra.23002","article-title":"Role of the planar cell polarity gene CELSR1 in neural tube defects and caudal agenesis","volume":"94","author":"Allache","year":"2012","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.jgg.2020.06.003_bib2","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1038\/srep00805","article-title":"Dishevelled3 is a novel arginine methyl transferase substrate","volume":"2","author":"Bikkavilli","year":"2012","journal-title":"Sci. Rep."},{"key":"10.1016\/j.jgg.2020.06.003_bib3","doi-asserted-by":"crossref","first-page":"1371","DOI":"10.1002\/humu.21589","article-title":"Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects","volume":"32","author":"Bosoi","year":"2011","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2020.06.003_bib4","doi-asserted-by":"crossref","first-page":"726","DOI":"10.1038\/nature01056","article-title":"The DIX domain targets dishevelled to actin stress fibres and vesicular membranes","volume":"419","author":"Capelluto","year":"2002","journal-title":"Nature"},{"key":"10.1016\/j.jgg.2020.06.003_bib5","doi-asserted-by":"crossref","first-page":"6304","DOI":"10.1007\/s12035-016-0164-0","article-title":"MARK2\/Par1b insufficiency attenuates DVL gene transcription via histone deacetylation in lumbosacral spina bifida","volume":"54","author":"Chen","year":"2017","journal-title":"Mol. Neurobiol."},{"key":"10.1016\/j.jgg.2020.06.003_bib6","doi-asserted-by":"crossref","first-page":"12871","DOI":"10.1074\/jbc.M115.708818","article-title":"Receptor for activated C kinase 1 (RACK1) promotes dishevelled protein degradation via autophagy and antagonizes Wnt signaling","volume":"291","author":"Cheng","year":"2016","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.jgg.2020.06.003_bib7","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/S1534-5807(02)00140-5","article-title":"Dapper, a Dishevelled-associated antagonist of \u03b2-catenin and JNK signaling, is required for notochord formation","volume":"2","author":"Cheyette","year":"2002","journal-title":"Dev. Cell"},{"key":"10.1016\/j.jgg.2020.06.003_bib8","doi-asserted-by":"crossref","first-page":"2189","DOI":"10.1016\/j.celrep.2015.11.017","article-title":"Cell-autonomous Ca2+ flashes elicit pulsed contractions of an apical actin network to drive apical constriction during neural tube closure","volume":"13","author":"Christodoulou","year":"2015","journal-title":"Cell Rep."},{"key":"10.1016\/j.jgg.2020.06.003_bib9","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1038\/nrn1665","article-title":"WNTs in the vertebrate nervous system: from patterning to neuronal connectivity","volume":"6","author":"Ciani","year":"2005","journal-title":"Nat. Rev. Neurosci."},{"key":"10.1016\/j.jgg.2020.06.003_bib10","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1002\/wdev.71","article-title":"Neural tube defects--disorders of neurulation and related embryonic processes","volume":"2","author":"Copp","year":"2013","journal-title":"Wiley Interdiscip. Rev. Dev. Biol."},{"key":"10.1016\/j.jgg.2020.06.003_bib11","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1016\/S1474-4422(13)70110-8","article-title":"Neural tube defects: recent advances, unsolved questions, and controversies","volume":"12","author":"Copp","year":"2013","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.jgg.2020.06.003_bib12","doi-asserted-by":"crossref","first-page":"582","DOI":"10.1007\/s12031-012-9871-9","article-title":"Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects","volume":"49","author":"De Marco","year":"2013","journal-title":"J.\u00a0Mol. Neurosci."},{"key":"10.1016\/j.jgg.2020.06.003_bib13","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1002\/humu.21643","article-title":"FZD6 is a novel gene for human neural tube defects","volume":"33","author":"De Marco","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2020.06.003_bib14","doi-asserted-by":"crossref","first-page":"e1000582","DOI":"10.1371\/journal.pbio.1000582","article-title":"A high-resolution anatomical atlas of the transcriptome in the mouse embryo","volume":"9","author":"Diez-Roux","year":"2011","journal-title":"PLoS Biol."},{"key":"10.1016\/j.jgg.2020.06.003_bib15","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1000259","article-title":"Murine dishevelled 3 functions in redundant pathways with dishevelled 1 and 2 in normal cardiac outflow tract, cochlea, and neural tube development","volume":"4","author":"Etheridge","year":"2008","journal-title":"PLoS Genet."},{"key":"10.1016\/j.jgg.2020.06.003_bib16","doi-asserted-by":"crossref","first-page":"717","DOI":"10.1016\/j.cellsig.2009.11.021","article-title":"Dishevelled: the hub of Wnt signaling","volume":"22","author":"Gao","year":"2010","journal-title":"Cell. Signal."},{"key":"10.1016\/j.jgg.2020.06.003_bib17","doi-asserted-by":"crossref","first-page":"59","DOI":"10.3389\/fcell.2017.00059","article-title":"Dishevelled paralogs in vertebrate development: redundant or distinct?","volume":"5","author":"Gentzel","year":"2017","journal-title":"Front. Cell Dev. Biol."},{"key":"10.1016\/j.jgg.2020.06.003_bib18","doi-asserted-by":"crossref","first-page":"e26362","DOI":"10.7554\/eLife.26362","article-title":"The Sec14-like phosphatidylinositol transfer proteins Sec14l3\/SEC14L2 act as GTPase proteins to mediate Wnt\/Ca2+ signaling","volume":"6","author":"Gong","year":"2017","journal-title":"eLife"},{"key":"10.1016\/j.jgg.2020.06.003_bib19","doi-asserted-by":"crossref","first-page":"R113","DOI":"10.1093\/hmg\/ddp347","article-title":"Genetics of human neural tube defects","volume":"18","author":"Greene","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jgg.2020.06.003_bib20","first-page":"2","article-title":"Dishevelled and Wnt signaling: is the nucleus the final frontier?","volume":"4","author":"Habas","year":"2005","journal-title":"J.\u00a0Biol."},{"key":"10.1016\/j.jgg.2020.06.003_bib21","doi-asserted-by":"crossref","first-page":"5827","DOI":"10.1242\/dev.00164","article-title":"Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure","volume":"129","author":"Hamblet","year":"2002","journal-title":"Development"},{"key":"10.1016\/j.jgg.2020.06.003_bib22","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1002\/bdra.20676","article-title":"An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure","volume":"88","author":"Harris","year":"2010","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.jgg.2020.06.003_bib23","doi-asserted-by":"crossref","first-page":"752","DOI":"10.1038\/ncb3363","article-title":"The polycystin complex mediates Wnt\/Ca2+ signalling","volume":"18","author":"Kim","year":"2016","journal-title":"Nat. Cell Biol."},{"key":"10.1016\/j.jgg.2020.06.003_bib24","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/S0925-4773(96)00549-7","article-title":"Conservation of dishevelled structure and function between flies and mice: isolation and characterization of Dvl2","volume":"58","author":"Klingensmith","year":"1996","journal-title":"Mech. Dev."},{"key":"10.1016\/j.jgg.2020.06.003_bib25","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/bdra.23554","article-title":"Genetic backgrounds and modifier genes of NTD mouse models: an opportunity for greater understanding of the multifactorial etiology of neural tube defects","volume":"109","author":"Leduc","year":"2017","journal-title":"Birth Defects Res. Part A Clin. Mol. Teratol."},{"key":"10.1016\/j.jgg.2020.06.003_bib26","doi-asserted-by":"crossref","first-page":"2232","DOI":"10.1056\/NEJMc0910820","article-title":"VANGL2 mutations in human cranial neural-tube defects","volume":"362","author":"Lei","year":"2010","journal-title":"N.\u00a0Engl. J. Med."},{"key":"10.1016\/j.jgg.2020.06.003_bib27","doi-asserted-by":"crossref","first-page":"30762","DOI":"10.1074\/jbc.M115.668442","article-title":"Mammalian sterile 20-like kinase 1 (Mst1) enhances the stability of forkhead box P3 (Foxp3) and the function of regulatory T cells by modulating Foxp3 acetylation","volume":"290","author":"Li","year":"2015","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.jgg.2020.06.003_bib28","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1002\/bdra.20248","article-title":"Extremely high prevalence of neural tube defects in a 4-county area in Shanxi Province, China","volume":"76","author":"Li","year":"2006","journal-title":"Birth Defects Res. A Clin. Mol. Teratol."},{"key":"10.1016\/j.jgg.2020.06.003_bib29","doi-asserted-by":"crossref","first-page":"895","DOI":"10.1016\/S0092-8674(00)80354-2","article-title":"Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1","volume":"90","author":"Lijam","year":"1997","journal-title":"Cell"},{"key":"10.1016\/j.jgg.2020.06.003_bib30","doi-asserted-by":"crossref","first-page":"12346","DOI":"10.1074\/jbc.M115.654590","article-title":"The Wnt signaling antagonist Dapper1 accelerates Dishevelled2 degradation via promoting its ubiquitination and aggregate-induced autophagy","volume":"290","author":"Ma","year":"2015","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.jgg.2020.06.003_bib31","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1016\/j.conb.2008.05.010","article-title":"Cerebellar development and disease","volume":"18","author":"Millen","year":"2008","journal-title":"Curr. Opin. Neurobiol."},{"key":"10.1016\/j.jgg.2020.06.003_bib32","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1002\/dvdy.22059","article-title":"Wnt to build a tube: contributions of Wnt signaling to epithelial tubulogenesis","volume":"239","author":"Miller","year":"2010","journal-title":"Dev. Dynam."},{"key":"10.1016\/j.jgg.2020.06.003_bib33","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.ymgme.2003.08.010","article-title":"Human malformations of the midbrain and hindbrain: review and proposed classification scheme","volume":"80","author":"Parisi","year":"2003","journal-title":"Mol. Genet. Metabol."},{"key":"10.1016\/j.jgg.2020.06.003_bib34","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1002\/humu.21662","article-title":"Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis","volume":"33","author":"Robinson","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2020.06.003_bib35","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1016\/j.semcdb.2009.09.004","article-title":"Regulation of convergence and extension movements during vertebrate gastrulation by the Wnt\/PCP pathway","volume":"20","author":"Roszko","year":"2009","journal-title":"Semin. Cell Dev. Biol."},{"key":"10.1016\/j.jgg.2020.06.003_bib36","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1093\/emboj\/19.5.1010","article-title":"Dishevelled phosphorylation, subcellular localization and multimerization regulate its role in early embryogenesis","volume":"19","author":"Rothb\u00e4cher","year":"2000","journal-title":"EMBO J."},{"key":"10.1016\/j.jgg.2020.06.003_bib37","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1101\/gad.1760809","article-title":"Wnt signaling pathways meet Rho GTPases","volume":"23","author":"Schlessinger","year":"2009","journal-title":"Gene Dev."},{"key":"10.1016\/j.jgg.2020.06.003_bib38","doi-asserted-by":"crossref","first-page":"4324","DOI":"10.1093\/hmg\/ddr359","article-title":"Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans","volume":"20","author":"Seo","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.jgg.2020.06.003_bib39","doi-asserted-by":"crossref","first-page":"1450","DOI":"10.1002\/humu.22121","article-title":"Identification of novel rare mutations of DACT1 in human neural tube defects","volume":"33","author":"Shi","year":"2012","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.jgg.2020.06.003_bib40","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1006\/dbio.1994.1297","article-title":"Isolation and characterization of a mouse homolog of the Drosophila segment polarity gene dishevelled","volume":"166","author":"Sussman","year":"1994","journal-title":"Dev. Biol."},{"key":"10.1016\/j.jgg.2020.06.003_bib41","doi-asserted-by":"crossref","first-page":"52703","DOI":"10.1074\/jbc.M408675200","article-title":"Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family","volume":"279","author":"Torban","year":"2004","journal-title":"J.\u00a0Biol. Chem."},{"key":"10.1016\/j.jgg.2020.06.003_bib42","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1242\/dev.02347","article-title":"Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation","volume":"133","author":"Wang","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.jgg.2020.06.003_bib43","doi-asserted-by":"crossref","first-page":"867","DOI":"10.1002\/jcp.20176","article-title":"Dvl2 silencing in postdevelopmental cells results in aberrant cell membrane activity and actin disorganization","volume":"202","author":"Wechezak","year":"2005","journal-title":"J.\u00a0Cell. Physiol."},{"key":"10.1016\/j.jgg.2020.06.003_bib44","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1242\/dev.000380","article-title":"Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure","volume":"134","author":"Ybot-Gonzalez","year":"2007","journal-title":"Development"},{"key":"10.1016\/j.jgg.2020.06.003_bib45","doi-asserted-by":"crossref","first-page":"8607","DOI":"10.1074\/jbc.M600274200","article-title":"Dapper 1 antagonizes Wnt\u00a0signaling by promoting dishevelled degradation","volume":"281","author":"Zhang","year":"2006","journal-title":"J.\u00a0Biol. Chem."}],"container-title":["Journal of Genetics and Genomics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852720301090?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1673852720301090?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T11:33:06Z","timestamp":1761651186000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1673852720301090"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6]]},"references-count":45,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2020,6]]}},"alternative-id":["S1673852720301090"],"URL":"https:\/\/doi.org\/10.1016\/j.jgg.2020.06.003","relation":{},"ISSN":["1673-8527"],"issn-type":[{"value":"1673-8527","type":"print"}],"subject":[],"published":{"date-parts":[[2020,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"DVL mutations identified from human neural tube defects and Dandy-Walker malformation obstruct the Wnt signaling pathway","name":"articletitle","label":"Article Title"},{"value":"Journal of Genetics and Genomics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jgg.2020.06.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Limited and Science Press. All rights reserved.","name":"copyright","label":"Copyright"}]}}