{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:49:29Z","timestamp":1790768969799,"version":"4.1.0"},"reference-count":26,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,11,1]],"date-time":"2021-11-01T00:00:00Z","timestamp":1635724800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/501100004912","name":"Sichuan University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004912","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31701085"],"award-info":[{"award-number":["31701085"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","rbmojournal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Reproductive BioMedicine Online"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1016\/j.rbmo.2021.07.005","type":"journal-article","created":{"date-parts":[[2021,7,22]],"date-time":"2021-07-22T19:13:14Z","timestamp":1626981194000},"page":"920-930","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":32,"title":["A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient"],"prefix":"10.1016","volume":"43","author":[{"given":"Daijuan","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Liang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueguang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaodong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heng","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"3","key":"10.1016\/j.rbmo.2021.07.005_bib0001","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":"2012","journal-title":"Hum. Mutat."},{"issue":"3","key":"10.1016\/j.rbmo.2021.07.005_bib0002","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1016\/j.ajhg.2018.07.013","article-title":"Loss of calmodulin- and radial-spoke-associated complex protein CFAP251 leads to immotile spermatozoa lacking mitochondria and infertility in men","volume":"103","author":"Auguste","year":"2018","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.rbmo.2021.07.005_bib0003","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1016\/j.ajhg.2013.11.017","article-title":"Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella","volume":"94","author":"Ben Khelifa","year":"2014","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.rbmo.2021.07.005_bib0004","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1083\/jcb.74.1.68","article-title":"Spermatogenic cells of the prepuberal mouse. Isolation and morphological characterization","volume":"74","author":"Bellv\u00e9","year":"1977","journal-title":"J. Cell. Biol."},{"key":"10.1016\/j.rbmo.2021.07.005_bib0005","doi-asserted-by":"crossref","first-page":"84","DOI":"10.1016\/0076-6879(93)25009-Q","article-title":"Purification, culture, and fractionation of spermatogenic cells","volume":"225","author":"Bellv\u00e9","year":"1993","journal-title":"Methods Enzymol."},{"issue":"6","key":"10.1016\/j.rbmo.2021.07.005_bib0006","doi-asserted-by":"crossref","first-page":"410","DOI":"10.1136\/jmedgenet-2012-100867","article-title":"Delineation of CCDC39\/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia","volume":"49","author":"Blanchon","year":"2012","journal-title":"J. Med. Genet."},{"issue":"W1","key":"10.1016\/j.rbmo.2021.07.005_bib0007","doi-asserted-by":"crossref","first-page":"W402","DOI":"10.1093\/nar\/gkz297","article-title":"The PSIPRED Protein Analysis Workbench: 20 years on","volume":"47","author":"Buchan","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.rbmo.2021.07.005_bib0008","doi-asserted-by":"crossref","first-page":"974","DOI":"10.3389\/fgene.2020.00974","article-title":"Ultrastructural sperm flagellum defects in a patient with CCDC39 compound heterozygous mutations and primary ciliary dyskinesia\/situs viscerum inversus","volume":"11","author":"Cannarella","year":"2020","journal-title":"Front Genet."},{"issue":"3","key":"10.1016\/j.rbmo.2021.07.005_bib0009","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1016\/j.ajhg.2020.07.010","article-title":"Bi-allelic loss-of-function variants in CFAP58 cause flagellar axoneme and mitochondrial sheath defects and asthenoteratozoospermia in humans and mice","volume":"107","author":"He","year":"2020","journal-title":"Am. J. Hum. Genet."},{"issue":"3","key":"10.1016\/j.rbmo.2021.07.005_bib0010","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1016\/j.chest.2018.05.007","article-title":"Advances in the genetics of primary ciliary dyskinesia: clinical implications","volume":"154","author":"Horani","year":"2018","journal-title":"Chest"},{"issue":"5","key":"10.1016\/j.rbmo.2021.07.005_bib0011","doi-asserted-by":"crossref","first-page":"515","DOI":"10.4103\/1008-682X.181227","article-title":"Genetic factors contributing to human primary ciliary dyskinesia and male infertility","volume":"19","author":"Ji","year":"2017","journal-title":"Asian J. Androl."},{"issue":"2","key":"10.1016\/j.rbmo.2021.07.005_bib0012","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1016\/j.beem.2010.08.006","article-title":"Male infertility: pathogenesis and clinical diagnosis","volume":"25","author":"Krausz","year":"2011","journal-title":"Best Pract. Res. Clin. Endocrinol. Metab."},{"issue":"6","key":"10.1016\/j.rbmo.2021.07.005_bib0013","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1038\/s41585-018-0003-3","article-title":"Genetics of male infertility","volume":"15","author":"Krausz","year":"2018","journal-title":"Nat. Rev. Urol."},{"issue":"4","key":"10.1016\/j.rbmo.2021.07.005_bib0014","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1016\/j.ajhg.2019.02.020","article-title":"Bi-allelic mutations in TTC21A induce asthenoteratospermia in humans and mice","volume":"104","author":"Liu","year":"2019","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.rbmo.2021.07.005_bib0015","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/S2213-2600(19)30374-1","article-title":"Primary ciliary dyskinesia in the genomics age","volume":"8","author":"Lucas","year":"2020","journal-title":"Lancet Respir Med."},{"issue":"4","key":"10.1016\/j.rbmo.2021.07.005_bib0016","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1016\/j.devcel.2016.10.006","article-title":"Spatial control of primary ciliogenesis by subdistal appendages alters sensation-associated properties of cilia","volume":"39","author":"Mazo","year":"2016","journal-title":"Dev. Cell"},{"issue":"1","key":"10.1016\/j.rbmo.2021.07.005_bib0018","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/ng.726","article-title":"CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs","volume":"43","author":"Merveille","year":"2011","journal-title":"Nat. Genet."},{"issue":"11","key":"10.1016\/j.rbmo.2021.07.005_bib0019","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1038\/s10038-020-0790-2","article-title":"Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype","volume":"65","author":"Sha","year":"2020","journal-title":"J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.rbmo.2021.07.005_bib0020","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1038\/s41467-018-08182-x","article-title":"Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella","volume":"10","author":"Shen","year":"2019","journal-title":"Nat. Commun."},{"issue":"11","key":"10.1016\/j.rbmo.2021.07.005_bib0021","doi-asserted-by":"crossref","first-page":"2029","DOI":"10.1007\/s00018-019-03389-7","article-title":"Sperm defects in primary ciliary dyskinesia and related causes of male infertility","volume":"77","author":"Sironen","year":"2020","journal-title":"Cell. Mol. Life Sci."},{"issue":"9","key":"10.1016\/j.rbmo.2021.07.005_bib0022","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1038\/ng.2707","article-title":"DYX1C1 is required for axonemal dynein assembly and ciliary motility","volume":"45","author":"Tarkar","year":"2013","journal-title":"Nat. Genet."},{"issue":"2","key":"10.1016\/j.rbmo.2021.07.005_bib0023","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1007\/s00439-020-02110-0","article-title":"Novel mutations in SPEF2 causing different defects between flagella and cilia bridge: the phenotypic link between MMAF and PCD","volume":"139","author":"Tu","year":"2020","journal-title":"Hum. Genet."},{"issue":"4","key":"10.1016\/j.rbmo.2021.07.005_bib0024","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1111\/j.1365-2605.2010.01087.x","article-title":"Clinical experience with azoospermia: aetiology and chances for spermatozoa detection upon biopsy","volume":"34","author":"Tuttelmann","year":"2011","journal-title":"Int. J. Androl."},{"issue":"6","key":"10.1016\/j.rbmo.2021.07.005_bib0025","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1093\/humrep\/dew083","article-title":"Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection","volume":"31","author":"Wambergue","year":"2016","journal-title":"Hum. Reprod."},{"key":"10.1016\/j.rbmo.2021.07.005_bib0026","series-title":"GeneReviews\u00ae [Internet]","author":"Zariwala","year":"2007"},{"issue":"1","key":"10.1016\/j.rbmo.2021.07.005_bib0027","doi-asserted-by":"crossref","first-page":"2612","DOI":"10.1038\/s41467-019-10497-2","article-title":"Modeling microcephaly with cerebral organoids reveals a WDR62-CEP170-KIF2A pathway promoting cilium disassembly in neural progenitors","volume":"10","author":"Zhang","year":"2019","journal-title":"Nat. Commun."}],"container-title":["Reproductive BioMedicine Online"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S147264832100345X?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S147264832100345X?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T08:21:38Z","timestamp":1761466898000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S147264832100345X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,11]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["S147264832100345X"],"URL":"https:\/\/doi.org\/10.1016\/j.rbmo.2021.07.005","relation":{},"ISSN":["1472-6483"],"issn-type":[{"value":"1472-6483","type":"print"}],"subject":[],"published":{"date-parts":[[2021,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel CCDC39 mutation causes multiple morphological abnormalities of the flagella in a primary ciliary dyskinesia patient","name":"articletitle","label":"Article Title"},{"value":"Reproductive BioMedicine Online","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.rbmo.2021.07.005","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Published by Elsevier Ltd on behalf of Reproductive Healthcare Ltd.","name":"copyright","label":"Copyright"}]}}