{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T21:22:36Z","timestamp":1777670556824,"version":"3.51.4"},"reference-count":39,"publisher":"Oxford University Press (OUP)","issue":"2","funder":[{"DOI":"10.13039\/501100002920","name":"Research Grants Council, University Grants Committee","doi-asserted-by":"publisher","award":["778213"],"award-info":[{"award-number":["778213"]}],"id":[{"id":"10.13039\/501100002920","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,1,15]]},"DOI":"10.1093\/hmg\/ddx406","type":"journal-article","created":{"date-parts":[[2017,11,20]],"date-time":"2017-11-20T07:09:37Z","timestamp":1511161777000},"page":"351-358","source":"Crossref","is-referenced-by-count":10,"title":["De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca"],"prefix":"10.1093","volume":"27","author":[{"given":"Jacob S J","family":"Hsu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manting","family":"So","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Clara S M","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anwarul","family":"Karim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert M","family":"Porsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carol","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"Yeung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huimin","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruizhong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stacey S","family":"Cherny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick H Y","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth K Y","family":"Wong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pak C","family":"Sham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ngoc Diem","family":"Ngo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miaoxin","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul K H","family":"Tam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vincent C H","family":"Lui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria-Merc\u00e8","family":"Garcia-Barcelo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2017,11,21]]},"reference":[{"key":"key\n\t\t\t\t20180105052659_ddx406-B1","doi-asserted-by":"crossref","first-page":"128","DOI":"10.1053\/j.sempedsurg.2009.11.012","article-title":"Cloacal malformations: lessons learned from 490 cases","volume":"19","year":"2010","journal-title":"Semin. Pediatr. Surg"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B2","doi-asserted-by":"crossref","first-page":"33.","DOI":"10.1186\/1750-1172-2-33","article-title":"Anorectal malformations","volume":"2","year":"2007","journal-title":"Orphanet J. Rare Dis"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B3","first-page":"2692","article-title":"Chromosomal anomalies in the etiology of anorectal malformations: a review","volume":"155A","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B4","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1002\/(SICI)1097-0223(1998100)18:10<1068::AID-PD384>3.0.CO;2-A","article-title":"Isochromosome 18q in a fetus with congenital megacystis, intra-uterine growth retardation and cloacal dysgenesis sequence","volume":"18","year":"1998","journal-title":"Prenat. Diagn"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B5","doi-asserted-by":"crossref","first-page":"e29372.","DOI":"10.1371\/journal.pone.0029372","article-title":"Bmp7 functions via a polarity mechanism to promote cloacal septation","volume":"7","year":"2012","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B6","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1387\/ijdb.082669cp","article-title":"Hedgehog signalling is required for cloacal development in the zebrafish embryo","volume":"53","year":"2009","journal-title":"Int. J. Dev. Biol"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B7","doi-asserted-by":"crossref","first-page":"3451","DOI":"10.1242\/dev.066118","article-title":"Concerted involvement of Cdx\/Hox genes and Wnt signaling in morphogenesis of the caudal neural tube and cloacal derivatives from the posterior growth zone","volume":"138","year":"2011","journal-title":"Development"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B8","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1016\/j.ydbio.2004.03.027","article-title":"Bidirectional signaling mediated by ephrin-B2 and EphB2 controls urorectal development","volume":"271","year":"2004","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B9","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1007\/s00383-010-2785-0","article-title":"The Skt gene, required for anorectal development, is a candidate for a molecular marker of the cloacal plate","volume":"27","year":"2011","journal-title":"Pediatr. Surg. Int"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B10","article-title":"Depletion of retinoic acid receptors initiates a novel positive feedback mechanism that promotes teratogenic increases in retinoic acid","volume":"9","year":"2013","journal-title":"PLoS Genet"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B11","doi-asserted-by":"crossref","first-page":"1369","DOI":"10.1056\/NEJM199511233332101","article-title":"Teratogenicity of high vitamin A intake","volume":"333","year":"1995","journal-title":"N. Eng. J. Med"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B12","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1002\/bdra.20709","article-title":"The role of CYP26 enzymes in defining appropriate retinoic acid exposure during embryogenesis","volume":"88","year":"2010","journal-title":"Birth Defects Res. A Clin. Mol. Teratol"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B13","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1016\/j.juro.2013.09.056","article-title":"DNA copy number variations in patients with persistent cloaca","volume":"191","year":"2014","journal-title":"J. Urol"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B14","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1016\/j.jpurol.2006.03.002","article-title":"Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations","volume":"3","year":"2007","journal-title":"J. Pediatr. Urol"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B15","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1242\/dmm.014530","article-title":"Defining the molecular pathologies in cloaca malformation: similarities between mouse and human","volume":"7","year":"2014","journal-title":"Dis. Model. Mech"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B16","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/nature13394","article-title":"Genome sequencing identifies major causes of severe intellectual disability","volume":"511","year":"2014","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B17","doi-asserted-by":"crossref","first-page":"3065","DOI":"10.1093\/bioinformatics\/btw381","article-title":"Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes","volume":"32","year":"2016","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B18","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1038\/nrg3241","article-title":"De novo mutations in human genetic disease","volume":"13","year":"2012","journal-title":"Nat. Rev. Genet"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B19","doi-asserted-by":"crossref","first-page":"588","DOI":"10.1016\/j.devcel.2009.02.010","article-title":"Establishment of intestinal identity and epithelial-mesenchymal signaling by Cdx2","volume":"16","year":"2009","journal-title":"Developmental Cell"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B20","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1042\/BST0380353","article-title":"The role of Cdx genes in the gut and in axial development","volume":"38","year":"2010","journal-title":"Biochem. Soc. Trans"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B21","doi-asserted-by":"crossref","first-page":"eaaj2239","DOI":"10.1126\/science.aaj2239","article-title":"Impact of cytosine methylation on DNA binding specificities of human transcription factors","volume":"356","year":"2017","journal-title":"Science"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B22","doi-asserted-by":"crossref","first-page":"4099","DOI":"10.1242\/dev.041582","article-title":"Cdx2 regulation of posterior development through non-Hox targets","volume":"136","year":"2009","journal-title":"Development"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B23","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1101\/gad.855001","article-title":"The retinoic acid-metabolizing enzyme, CYP26A1, is essential for normal hindbrain patterning, vertebral identity, and development of posterior structures","volume":"15","year":"2001","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B24","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1101\/gad.851501","article-title":"The retinoic acid-inactivating enzyme CYP26 is essential for establishing an uneven distribution of retinoic acid along the anterio-posterior axis within the mouse embryo","volume":"15","year":"2001","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B25","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.ydbio.2015.06.008","article-title":"Excessive feedback of Cyp26a1 promotes cell non-autonomous loss of retinoic acid signaling","volume":"405","year":"2015","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B26","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.ydbio.2007.10.018","article-title":"A nutritional model of late embryonic vitamin A deficiency produces defects in organogenesis at a high penetrance and reveals new roles for the vitamin in skeletal development","volume":"316","year":"2008","journal-title":"Dev. Biol"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B27","doi-asserted-by":"crossref","first-page":"978","DOI":"10.1038\/cdd.2014.20","article-title":"Dysregulation of Wnt inhibitory factor 1 (Wif1) expression resulted in aberrant Wnt-beta-catenin signaling and cell death of the cloaca endoderm, and anorectal malformations","volume":"21","year":"2014","journal-title":"Cell Death Differ"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B28","doi-asserted-by":"crossref","first-page":"990","DOI":"10.1038\/cdd.2014.21","article-title":"Disruption of the temporally regulated cloaca endodermal beta-catenin signaling causes anorectal malformations","volume":"21","year":"2014","journal-title":"Cell Death Differ"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B29","doi-asserted-by":"crossref","first-page":"58.","DOI":"10.1186\/1750-1172-8-58","article-title":"Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations","volume":"8","year":"2013","journal-title":"Orphanet J. Rare Dis"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B30","doi-asserted-by":"crossref","first-page":"1291","DOI":"10.1038\/ng.2479","article-title":"Digenic inheritance and Mendelian disease","volume":"44","year":"2012","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B31","doi-asserted-by":"crossref","first-page":"a017145.","DOI":"10.1101\/cshperspect.a017145","article-title":"Genetic modifiers and oligogenic inheritance","volume":"5","year":"2015","journal-title":"Cold Spring Harb. Perspect. Med"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B32","doi-asserted-by":"crossref","first-page":"665","DOI":"10.1242\/dev.016204","article-title":"Early mouse caudal development relies on crosstalk between retinoic acid, Shh and Fgf signalling pathways","volume":"136","year":"2009","journal-title":"Development"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B33","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1038\/ng.3050","article-title":"A framework for the interpretation of de novo mutation in human disease","volume":"46","year":"2014","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B34","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1038\/nature13127","article-title":"Guidelines for investigating causality of sequence variants in human disease","volume":"508","year":"2014","journal-title":"Nature"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B35","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","year":"2009","journal-title":"Bioinformatics"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B36","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","year":"2011","journal-title":"Nat. Genet"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B37","doi-asserted-by":"crossref","first-page":"559","DOI":"10.1086\/519795","article-title":"PLINK: A tool set for whole-genome association and population-based linkage analyses","volume":"81","year":"2007","journal-title":"Am.J. Hum.Genet"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B38","first-page":"1","article-title":"Protein structure homology modeling using SWISS-MODEL workspace","volume":"4","year":"2008","journal-title":"Nat. Protoc"},{"key":"key\n\t\t\t\t20180105052659_ddx406-B39","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1038\/nprot.2015.053","article-title":"The Phyre2 web portal for protein modeling, prediction and analysis","volume":"10","year":"2015","journal-title":"Nat. Protoc"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/27\/2\/351\/23265514\/ddx406.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,1,5]],"date-time":"2018-01-05T05:35:03Z","timestamp":1515130503000},"score":1,"resource":{"primary":{"URL":"http:\/\/academic.oup.com\/hmg\/article\/27\/2\/351\/4644523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11,21]]},"references-count":39,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2017,11,21]]},"published-print":{"date-parts":[[2018,1,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddx406","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2018,1,15]]},"published":{"date-parts":[[2017,11,21]]}}}