{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T05:16:42Z","timestamp":1792300602637,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,1,18]],"date-time":"2021-01-18T00:00:00Z","timestamp":1610928000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Empty follicle syndrome (EFS) is a serious and complex reproductive complication for infertile women suffering from the recurrent failure of oocyte retrieval in an in vitro fertilization procedure, and its pathogenesis remains obscure. Increasing evidence highlights the genetic basis of EFS occurrence. In this study, we identified two novel missense mutations (c.1127G\u2009&gt;\u2009A, p.C376Y and c.325C\u2009&gt;\u2009T, p.R109C), two novel frameshift mutations (c.800_801delAG, p.E267Gfs*80 and c.1815_1825delGGTCCTTTTGC, p.V606Afs*42), one novel nonsense mutation (c.199G\u2009&gt;\u2009T, p.E67Ter), and three reported mutations (c.769C\u2009&gt;\u2009T, p.Q257Ter; c.1430\u2009+\u20091G\u2009&gt;\u2009T, p.C478Ter and c.1169_1176delTTTTCCCA, p.I390Tfs*16) in five unrelated probands, showing similar EFS manifestations, which expands the mutational spectrum of individuals with autosomal recessive\n                    <jats:italic>ZP1<\/jats:italic>\n                    . Current research will provide a better understanding of the biological functions of\n                    <jats:italic>ZP1<\/jats:italic>\n                    , and some insight into the determination of\n                    <jats:italic>ZP1<\/jats:italic>\n                    variation as an additional rule for assessing the EFS disease.\n                  <\/jats:p>","DOI":"10.1111\/cge.13921","type":"journal-article","created":{"date-parts":[[2021,1,14]],"date-time":"2021-01-14T22:00:54Z","timestamp":1610661654000},"page":"583-587","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Novel mutations in\n                    <scp>\n                      <i>ZP1<\/i>\n                    <\/scp>\n                    : Expanding the mutational spectrum associated with empty follicle syndrome in infertile women"],"prefix":"10.1111","volume":"99","author":[{"given":"Ling","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Assisted Reproduction Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Menghui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Assisted Reproduction Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingru","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Assisted Reproduction Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yangjie","family":"Ou","sequence":"additional","affiliation":[{"name":"Department of Assisted Reproduction Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiguang","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Assisted Reproduction Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanping","family":"Kuang","sequence":"additional","affiliation":[{"name":"Department of Assisted Reproduction Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Assisted Reproduction Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7838-4399","authenticated-orcid":false,"given":"Bin","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Assisted Reproduction Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,1,18]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2011.05.057"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dex015"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.08.001"},{"key":"e_1_2_8_5_1","first-page":"2201","article-title":"ZP1 mutations are associated with empty follicle syndrome: evidence for the existence of an intact oocyte and a zona pellucida in follicles up to the early antral stage. A case report","volume":"34","author":"Dai C","year":"2019","journal-title":"Hum Reprod"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23864"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1269"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10815-019-01404-1"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dez282"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/cphg.98"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01990-1"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1308851"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-416024-8.00009-X"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ctdb.2018.01.001"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deh301"},{"key":"e_1_2_8_16_1","doi-asserted-by":"crossref","first-page":"3847","DOI":"10.1242\/dev.126.17.3847","article-title":"Abnormal zonae pellucidae in mice lacking ZP1 result in early embryonic loss","volume":"126","author":"Rankin T","year":"1999","journal-title":"Development"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-10931-5"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcmm.15482"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13921","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13921","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13921","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T08:21:02Z","timestamp":1693642862000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13921"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,1,18]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2021,4]]}},"alternative-id":["10.1111\/cge.13921"],"URL":"https:\/\/doi.org\/10.1111\/cge.13921","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13921\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13921\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13921\/v2\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13921\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13921\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13921\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13921\/v2\/review2","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,1,18]]},"assertion":[{"value":"2020-10-29","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-05","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-01-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}