{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T10:13:07Z","timestamp":1788257587584,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,3,1]],"date-time":"2015-03-01T00:00:00Z","timestamp":1425168000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"},{"start":{"date-parts":[[2015,3,13]],"date-time":"2015-03-13T00:00:00Z","timestamp":1426204800000},"content-version":"vor","delay-in-days":12,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["P01HD067244"],"award-info":[{"award-number":["P01HD067244"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R01ES021006"],"award-info":[{"award-number":["R01ES021006"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2015,3]]},"DOI":"10.1002\/humu.22750","type":"journal-article","created":{"date-parts":[[2014,12,25]],"date-time":"2014-12-25T10:37:18Z","timestamp":1419503838000},"page":"342-349","source":"Crossref","is-referenced-by-count":46,"title":["Rare <i>LRP6<\/i>\n Variants Identified in Spina Bifida Patients"],"prefix":"10.1155","volume":"36","author":[{"given":"Yunping","family":"Lei","sequence":"first","affiliation":[{"name":"Dell Pediatric Research Institute; Department of Nutritional Sciences; The University of Texas at Austin; Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin","family":"Fathe","sequence":"additional","affiliation":[{"name":"Dell Pediatric Research Institute; Department of Nutritional Sciences; The University of Texas at Austin; Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"McCartney","sequence":"additional","affiliation":[{"name":"Dell Pediatric Research Institute; Department of Nutritional Sciences; The University of Texas at Austin; Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiping","family":"Zhu","sequence":"additional","affiliation":[{"name":"Dell Pediatric Research Institute; Department of Nutritional Sciences; The University of Texas at Austin; Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Division of Neonatology; Stanford University School of Medicine; Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Elizabeth","family":"Ross","sequence":"additional","affiliation":[{"name":"Center for Neurogenetics; Brain and Mind Research Institute; Weill Cornell Medical College; New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gary M.","family":"Shaw","sequence":"additional","affiliation":[{"name":"Department of Pediatrics; Division of Neonatology; Stanford University School of Medicine; Stanford California"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"Finnell","sequence":"additional","affiliation":[{"name":"Dell Pediatric Research Institute; Department of Nutritional Sciences; The University of Texas at Austin; Austin Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,13]]},"reference":[{"key":"10.1002\/humu.22750-BIB0001|humu22750-cit-0001","doi-asserted-by":"crossref","first-page":"1687","DOI":"10.1093\/hmg\/ddt558","article-title":"Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway","volume":"23","author":"Allache","year":"2014","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22750-BIB0002|humu22750-cit-0002","doi-asserted-by":"crossref","first-page":"4873","DOI":"10.1038\/sj.onc.1207642","article-title":"Truncated mutants of the putative Wnt receptor LRP6\/Arrow can stabilize beta-catenin independently of Frizzled proteins","volume":"23","author":"Brennan","year":"2004","journal-title":"Oncogene"},{"key":"10.1002\/humu.22750-BIB0003|humu22750-cit-0003","doi-asserted-by":"crossref","first-page":"12843","DOI":"10.1073\/pnas.0501963102","article-title":"Crooked tail (Cd) model of human folate-responsive neural tube defects is mutated in Wnt coreceptor lipoprotein receptor-related protein 6","volume":"102","author":"Carter","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22750-BIB0004|humu22750-cit-0004","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1093\/hmg\/8.12.2199","article-title":"Crooked tail (Cd) models human folate-responsive neural tube defects","volume":"8","author":"Carter","year":"1999","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22750-BIB0005|humu22750-cit-0005","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.str.2011.01.010","article-title":"Two structural and functional domains of MESD required for proper folding and trafficking of LRP5\/6","volume":"19","author":"Chen","year":"2011","journal-title":"Structure"},{"key":"10.1002\/humu.22750-BIB0006|humu22750-cit-0006","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1111\/j.1365-3016.1991.tb00728.x","article-title":"Birth defects monitoring in California: a resource for epidemiological research","volume":"5","author":"Croen","year":"1991","journal-title":"Paediatr Perinat Epidemiol"},{"key":"10.1002\/humu.22750-BIB0007|humu22750-cit-0007","doi-asserted-by":"crossref","first-page":"4267","DOI":"10.1093\/hmg\/ddt277","article-title":"LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure","volume":"22","author":"Gray","year":"2013","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22750-BIB0008|humu22750-cit-0008","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":"10.1002\/humu.22750-BIB0009|humu22750-cit-0009","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/S0092-8674(03)00073-4","article-title":"Coaxing the LDLreceptor family into the fold","volume":"112","author":"Herz","year":"2003","journal-title":"Cell"},{"key":"10.1002\/humu.22750-BIB0010|humu22750-cit-0010","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/S0092-8674(03)00045-X","article-title":"MESD encodes an LRP5\/6 chaperone essential for specification of mouse embryonic polarity","volume":"112","author":"Hsieh","year":"2003","journal-title":"Cell"},{"key":"10.1002\/humu.22750-BIB0011|humu22750-cit-0011","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1038\/88556","article-title":"Implications for familial hypercholesterolemia from the structure of the LDL receptor YWTD-EGF domain pair","volume":"8","author":"Jeon","year":"2001","journal-title":"Nat Struct Biol"},{"key":"10.1002\/humu.22750-BIB0012|humu22750-cit-0012","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1359\/JBMR.040816","article-title":"LRP5 and Wnt signaling: a union made for bone","volume":"19","author":"Johnson","year":"2004","journal-title":"J Bone Miner Res"},{"key":"10.1002\/humu.22750-BIB0013|humu22750-cit-0013","doi-asserted-by":"crossref","first-page":"5469","DOI":"10.1242\/dev.01405","article-title":"Skeletal defects in ringelschwanz mutant mice reveal that Lrp6 is required for proper somitogenesis and osteogenesis","volume":"131","author":"Kokubu","year":"2004","journal-title":"Development"},{"key":"10.1002\/humu.22750-BIB0014|humu22750-cit-0014","doi-asserted-by":"crossref","first-page":"5696","DOI":"10.1128\/MCB.19.8.5696","article-title":"Neoplastic transformation of RK3Eby mutant beta-catenin requires deregulation of Tcf\/Lef transcription but not activation of c-myc expression","volume":"19","author":"Kolligs","year":"1999","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.22750-BIB0015|humu22750-cit-0015","doi-asserted-by":"crossref","first-page":"1661","DOI":"10.1359\/jbmr.080512","article-title":"Lrp6 hypomorphic mutation affects bone mass through bone resorption in mice and impairs interaction with Mesd","volume":"23","author":"Kubota","year":"2008","journal-title":"J Bone Miner Res"},{"key":"10.1002\/humu.22750-BIB0016|humu22750-cit-0016","doi-asserted-by":"crossref","first-page":"e69262","DOI":"10.1371\/journal.pone.0069262","article-title":"Mutations in planar cell polarity gene SCRIBare associated with spina bifida","volume":"8","author":"Lei","year":"2013","journal-title":"PLoS One"},{"key":"10.1002\/humu.22750-BIB0017|humu22750-cit-0017","doi-asserted-by":"crossref","first-page":"e92207","DOI":"10.1371\/journal.pone.0092207","article-title":"Identification of novel CELSR1 mutations in spina bifida","volume":"9","author":"Lei","year":"2014","journal-title":"PLoS One"},{"key":"10.1002\/humu.22750-BIB0018|humu22750-cit-0018","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1002\/ajmg.c.30057","article-title":"Epidemiology of neural tube defects","volume":"135C","author":"Mitchell","year":"2005","journal-title":"Am J Med Genet C Semin Med Genet"},{"key":"10.1002\/humu.22750-BIB0019|humu22750-cit-0019","doi-asserted-by":"crossref","first-page":"e4046","DOI":"10.1371\/journal.pone.0004046","article-title":"Direct inhibition of GSK3beta by the phosphorylated cytoplasmic domain of LRP6 in Wnt\/beta-catenin signaling","volume":"3","author":"Piao","year":"2008","journal-title":"PLoS One"},{"key":"10.1002\/humu.22750-BIB0020|humu22750-cit-0020","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/35035124","article-title":"An LDL-receptor-related protein mediates Wnt signalling in mice","volume":"407","author":"Pinson","year":"2000","journal-title":"Nature"},{"key":"10.1002\/humu.22750-BIB0021|humu22750-cit-0021","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/S0140-6736(80)90886-7","article-title":"Possible prevention of neural-tube defects by periconceptional vitamin supplementation","volume":"1","author":"Smithells","year":"1980","journal-title":"Lancet"},{"key":"10.1002\/humu.22750-BIB0022|humu22750-cit-0022","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S1097-2765(03)00484-2","article-title":"A mechanism for Wnt coreceptor activation","volume":"13","author":"Tamai","year":"2004","journal-title":"Mol Cell"},{"key":"10.1002\/humu.22750-BIB0023|humu22750-cit-0023","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1016\/S0960-9822(03)00240-9","article-title":"Zebrafish prickle, a modulator of noncanonical Wnt\/Fz signaling, regulates gastrulation movements","volume":"13","author":"Veeman","year":"2003","journal-title":"Curr Biol"},{"key":"10.1002\/humu.22750-BIB0024|humu22750-cit-0024","doi-asserted-by":"crossref","first-page":"1222002","DOI":"10.1126\/science.1222002","article-title":"The continuing challenge of understanding, preventing, and treating neural tube defects","volume":"339","author":"Wallingford","year":"2013","journal-title":"Science"},{"key":"10.1002\/humu.22750-BIB0025|humu22750-cit-0025","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1242\/dev.02347","article-title":"Dishevelled genes mediate a conserved mammalian PCPpathway to regulate convergent extension during neurulation","volume":"133","author":"Wang","year":"2006","journal-title":"Development"},{"key":"10.1002\/humu.22750-BIB0026|humu22750-cit-0026","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1242\/dev.013540","article-title":"Initiation of Wnt signaling: control of Wnt coreceptor Lrp6 phosphorylation\/activation via frizzled, dishevelled and axin functions","volume":"135","author":"Zeng","year":"2008","journal-title":"Development"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22750","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22750","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full\/10.1002\/humu.22750","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:10Z","timestamp":1672332790000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22750"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3]]},"references-count":26,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2015,3]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22750","archive":["Portico"],"relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2015,3]]}}}