{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T11:54:56Z","timestamp":1791806096582,"version":"4.3.4"},"reference-count":47,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,7,1]],"date-time":"2023-07-01T00:00:00Z","timestamp":1688169600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T00:00:00Z","timestamp":1683676800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HD102186"],"award-info":[{"award-number":["R01HD102186"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01NS127879"],"award-info":[{"award-number":["R01NS127879"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Developmental Biology"],"published-print":{"date-parts":[[2023,7]]},"DOI":"10.1016\/j.ydbio.2023.04.006","type":"journal-article","created":{"date-parts":[[2023,5,10]],"date-time":"2023-05-10T01:45:26Z","timestamp":1683683126000},"page":"75-88","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"special_numbering":"C","title":["CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability"],"prefix":"10.1016","volume":"499","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2999-0429","authenticated-orcid":false,"given":"E.","family":"Deniz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pasha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.E.","family":"Guerra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Viviano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Ji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Konstantino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Jeffries","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.A.","family":"Lakhani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Medne","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Skraban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Krantz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9846-7076","authenticated-orcid":false,"given":"M.K.","family":"Khokha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.ydbio.2023.04.006_bib1","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1002\/humu.22261","article-title":"Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms","volume":"34","author":"Antony","year":"2013","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ydbio.2023.04.006_bib2","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/S0070-2153(08)00806-5","article-title":"Cilia multifunctional organelles at the center of vertebrate left-right asymmetry","volume":"85","author":"Basu","year":"2008","journal-title":"Curr. Top. Dev. Biol."},{"issue":"1","key":"10.1016\/j.ydbio.2023.04.006_bib3","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1038\/ng.727","article-title":"The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation","volume":"43","author":"Becker-Heck","year":"2011","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ydbio.2023.04.006_bib4","doi-asserted-by":"crossref","first-page":"196","DOI":"10.1016\/j.ydbio.2015.11.003","article-title":"CRISPR\/Cas9: an inexpensive, efficient loss of function tool to screen human disease genes in Xenopus","volume":"408","author":"Bhattacharya","year":"2015","journal-title":"Dev. Biol."},{"issue":"5","key":"10.1016\/j.ydbio.2023.04.006_bib5","doi-asserted-by":"crossref","first-page":"R205","DOI":"10.1016\/j.cub.2015.01.031","article-title":"Left-right asymmetry: cilia and calcium revisited","volume":"25","author":"Blum","year":"2015","journal-title":"Curr. Biol."},{"issue":"7480","key":"10.1016\/j.ydbio.2023.04.006_bib6","doi-asserted-by":"crossref","first-page":"456","DOI":"10.1038\/nature12723","article-title":"The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality","volume":"504","author":"Boskovski","year":"2013","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.ydbio.2023.04.006_bib7","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/S0146-0005(96)80070-X","article-title":"The genetics of left-right development and heterotaxia","volume":"20","author":"Bowers","year":"1996","journal-title":"Semin. Perinatol."},{"issue":"1","key":"10.1016\/j.ydbio.2023.04.006_bib8","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1083\/jcb.201204072","article-title":"Control of vertebrate intraflagellar transport by the planar cell polarity effector Fuz","volume":"198","author":"Brooks","year":"2012","journal-title":"J.\u00a0Cell Biol."},{"issue":"21","key":"10.1016\/j.ydbio.2023.04.006_bib9","doi-asserted-by":"crossref","first-page":"4771","DOI":"10.1242\/dev.126.21.4771","article-title":"Defining subregions of Hensen's node essential for caudalward movement, midline development and cell survival","volume":"126","author":"Charrier","year":"1999","journal-title":"Development"},{"issue":"1","key":"10.1016\/j.ydbio.2023.04.006_bib10","doi-asserted-by":"crossref","first-page":"6196","DOI":"10.1038\/s41598-019-42549-4","article-title":"Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus","volume":"9","author":"Date","year":"2019","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ydbio.2023.04.006_bib11","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1007\/978-1-61779-992-1_3","article-title":"Generating diploid embryos from Xenopus tropicalis","volume":"917","author":"del Viso","year":"2012","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ydbio.2023.04.006_bib12","doi-asserted-by":"crossref","DOI":"10.1038\/srep42506","article-title":"Analysis of craniocardiac malformations in Xenopus using optical coherence tomography","volume":"7","author":"Deniz","year":"2017","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ydbio.2023.04.006_bib13","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1007\/978-1-4939-8784-9_12","article-title":"CRISPR\/Cas9 F0 screening of congenital heart disease genes in Xenopus tropicalis","volume":"1865","author":"Deniz","year":"2018","journal-title":"Methods Mol. Biol."},{"issue":"1","key":"10.1016\/j.ydbio.2023.04.006_bib14","doi-asserted-by":"crossref","first-page":"5520","DOI":"10.1038\/s41467-020-19113-0","article-title":"CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module","volume":"11","author":"Dougherty","year":"2020","journal-title":"Nat. Commun."},{"issue":"6","key":"10.1016\/j.ydbio.2023.04.006_bib15","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1242\/dev.01663","article-title":"Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut","volume":"132","author":"Essner","year":"2005","journal-title":"Development"},{"issue":"7000","key":"10.1016\/j.ydbio.2023.04.006_bib16","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1038\/nature02796","article-title":"Planar cell polarity signalling controls cell division orientation during zebrafish gastrulation","volume":"430","author":"Gong","year":"2004","journal-title":"Nature"},{"key":"10.1016\/j.ydbio.2023.04.006_bib17","series-title":"Etiology and Morphogenesis of Congenital Heart Disease: from Gene Function and Cellular Interaction to Morphology","first-page":"57","article-title":"Roles of motile and immotile cilia in left-right symmetry breaking","author":"Hamada","year":"2016"},{"issue":"12","key":"10.1016\/j.ydbio.2023.04.006_bib18","doi-asserted-by":"crossref","first-page":"1890","DOI":"10.1016\/S0735-1097(02)01886-7","article-title":"The incidence of congenital heart disease","volume":"39","author":"Hoffman","year":"2002","journal-title":"J.\u00a0Am. Coll. Cardiol."},{"issue":"6265","key":"10.1016\/j.ydbio.2023.04.006_bib19","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1126\/science.aac9396","article-title":"De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies","volume":"350","author":"Homsy","year":"2015","journal-title":"Science"},{"issue":"3","key":"10.1016\/j.ydbio.2023.04.006_bib20","doi-asserted-by":"crossref","DOI":"10.1117\/1.JBO.20.3.030502","article-title":"Quantitative optical coherence tomography imaging of intermediate flow defect phenotypes in ciliary physiology and pathophysiology","volume":"20","author":"Huang","year":"2015","journal-title":"J.\u00a0Biomed. Opt."},{"issue":"1","key":"10.1016\/j.ydbio.2023.04.006_bib21","doi-asserted-by":"crossref","DOI":"10.1101\/cshperspect.a028076","article-title":"Axoneme structure from motile cilia","volume":"9","author":"Ishikawa","year":"2017","journal-title":"Cold Spring Harbor Perspect. Biol."},{"issue":"2","key":"10.1016\/j.ydbio.2023.04.006_bib22","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1016\/j.ydbio.2011.03.009","article-title":"Left-right asymmetry in the level of active Nodal protein produced in the node is translated into left-right asymmetry in the lateral plate of mouse embryos","volume":"353","author":"Kawasumi","year":"2011","journal-title":"Dev. Biol."},{"issue":"4","key":"10.1016\/j.ydbio.2023.04.006_bib23","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1002\/dvdy.10184","article-title":"Techniques and probes for the study of Xenopus tropicalis development","volume":"225","author":"Khokha","year":"2002","journal-title":"Dev. Dynam."},{"key":"10.1016\/j.ydbio.2023.04.006_bib24","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0091-679X(08)60819-5","article-title":"High-resolution imaging of flagella","volume":"47","author":"Kozminski","year":"1995","journal-title":"Methods Cell Biol."},{"issue":"12","key":"10.1016\/j.ydbio.2023.04.006_bib25","doi-asserted-by":"crossref","first-page":"5519","DOI":"10.1073\/pnas.90.12.5519","article-title":"A\u00a0motility in the eukaryotic flagellum unrelated to flagellar beating","volume":"90","author":"Kozminski","year":"1993","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"issue":"6 Pt 1","key":"10.1016\/j.ydbio.2023.04.006_bib26","doi-asserted-by":"crossref","first-page":"1517","DOI":"10.1083\/jcb.131.6.1517","article-title":"The Chlamydomonas kinesin-like protein FLA10 is involved in motility associated with the flagellar membrane","volume":"131","author":"Kozminski","year":"1995","journal-title":"J.\u00a0Cell Biol."},{"issue":"4","key":"10.1016\/j.ydbio.2023.04.006_bib27","article-title":"Obtaining Xenopus tropicalis embryos by in vitro fertilization","volume":"2022","author":"Lane","year":"2022","journal-title":"Cold Spring Harb. Protoc."},{"issue":"7616","key":"10.1016\/j.ydbio.2023.04.006_bib28","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"issue":"6750","key":"10.1016\/j.ydbio.2023.04.006_bib29","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1038\/45803","article-title":"Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis","volume":"401","author":"Lin","year":"1999","journal-title":"Nature"},{"issue":"4","key":"10.1016\/j.ydbio.2023.04.006_bib30","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1016\/j.cell.2019.09.030","article-title":"Structure of the decorated ciliary doublet microtubule","volume":"179","author":"Ma","year":"2019","journal-title":"Cell"},{"issue":"1","key":"10.1016\/j.ydbio.2023.04.006_bib31","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/S0092-8674(03)00511-7","article-title":"Two populations of node monocilia initiate left-right asymmetry in the mouse","volume":"114","author":"McGrath","year":"2003","journal-title":"Cell"},{"issue":"3","key":"10.1016\/j.ydbio.2023.04.006_bib32","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/humu.22738","article-title":"Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer","volume":"36","author":"Narasimhan","year":"2015","journal-title":"Hum. Mutat."},{"issue":"5789","key":"10.1016\/j.ydbio.2023.04.006_bib33","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1126\/science.1128618","article-title":"The molecular architecture of axonemes revealed by cryoelectron tomography","volume":"313","author":"Nicastro","year":"2006","journal-title":"Science"},{"issue":"1","key":"10.1016\/j.ydbio.2023.04.006_bib34","doi-asserted-by":"crossref","first-page":"1143","DOI":"10.1038\/s41467-019-09051-x","article-title":"Inner lumen proteins stabilize doublet microtubules in cilia and flagella","volume":"10","author":"Owa","year":"2019","journal-title":"Nat. Commun."},{"issue":"3","key":"10.1016\/j.ydbio.2023.04.006_bib35","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1083\/jcb.144.3.473","article-title":"The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly","volume":"144","author":"Pazour","year":"1999","journal-title":"J.\u00a0Cell Biol."},{"issue":"23","key":"10.1016\/j.ydbio.2023.04.006_bib36","doi-asserted-by":"crossref","first-page":"3015","DOI":"10.1161\/CIRCULATIONAHA.106.183056","article-title":"Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American heart association congenital cardiac defects committee, council on cardiovascular disease in the young: endorsed by the American academy of pediatrics","volume":"115","author":"Pierpont","year":"2007","journal-title":"Circulation"},{"issue":"1","key":"10.1016\/j.ydbio.2023.04.006_bib37","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.cub.2006.10.067","article-title":"Cilia-driven leftward flow determines laterality in Xenopus","volume":"17","author":"Schweickert","year":"2007","journal-title":"Curr. Biol."},{"issue":"8","key":"10.1016\/j.ydbio.2023.04.006_bib38","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/j.cub.2010.02.061","article-title":"The nodal inhibitor Coco is a critical target of leftward flow in Xenopus","volume":"20","author":"Schweickert","year":"2010","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ydbio.2023.04.006_bib39","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1016\/j.gde.2019.05.003","article-title":"Genes and mechanisms of heterotaxy: patients drive the search","volume":"56","author":"Sempou","year":"2019","journal-title":"Curr. Opin. Genet. Dev."},{"issue":"9","key":"10.1016\/j.ydbio.2023.04.006_bib40","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1038\/ng.3627","article-title":"Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing","volume":"48","author":"Sifrim","year":"2016","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.ydbio.2023.04.006_bib41","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/j.jtcvs.2017.09.050","article-title":"Airway ciliary dysfunction: association with adverse postoperative outcomes in nonheterotaxy congenital heart disease patients","volume":"155","author":"Stewart","year":"2018","journal-title":"J.\u00a0Thorac. Cardiovasc. Surg."},{"issue":"13","key":"10.1016\/j.ydbio.2023.04.006_bib42","doi-asserted-by":"crossref","first-page":"2507","DOI":"10.1242\/dev.02417","article-title":"Radial intercalation of ciliated cells during Xenopus skin development","volume":"133","author":"Stubbs","year":"2006","journal-title":"Development"},{"issue":"7","key":"10.1016\/j.ydbio.2023.04.006_bib43","doi-asserted-by":"crossref","first-page":"3196","DOI":"10.1364\/BOE.10.003196","article-title":"Gaussian process post-processing for particle tracking velocimetry","volume":"10","author":"Tang","year":"2019","journal-title":"Biomed. Opt Express"},{"issue":"1","key":"10.1016\/j.ydbio.2023.04.006_bib44","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.ydbio.2006.09.039","article-title":"The left-right axis is regulated by the interplay of Coco, Xnr1 and derriere in Xenopus embryos","volume":"303","author":"Vonica","year":"2007","journal-title":"Dev. Biol."},{"issue":"6104","key":"10.1016\/j.ydbio.2023.04.006_bib45","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1126\/science.1222538","article-title":"Cilia at the node of mouse embryos sense fluid flow for left-right determination via Pkd2","volume":"338","author":"Yoshiba","year":"2012","journal-title":"Science"},{"issue":"3","key":"10.1016\/j.ydbio.2023.04.006_bib46","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/S0092-8674(00)81473-7","article-title":"Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry","volume":"94","author":"Yoshioka","year":"1998","journal-title":"Cell"},{"issue":"7453","key":"10.1016\/j.ydbio.2023.04.006_bib47","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1038\/nature12141","article-title":"De novo mutations in histone-modifying genes in congenital heart disease","volume":"498","author":"Zaidi","year":"2013","journal-title":"Nature"}],"container-title":["Developmental Biology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0012160623000672?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0012160623000672?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,15]],"date-time":"2025-09-15T06:03:37Z","timestamp":1757916217000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0012160623000672"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7]]},"references-count":47,"alternative-id":["S0012160623000672"],"URL":"https:\/\/doi.org\/10.1016\/j.ydbio.2023.04.006","relation":{},"ISSN":["0012-1606"],"issn-type":[{"value":"0012-1606","type":"print"}],"subject":[],"published":{"date-parts":[[2023,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability","name":"articletitle","label":"Article Title"},{"value":"Developmental Biology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ydbio.2023.04.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}]}}