{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T18:56:47Z","timestamp":1787770607288,"version":"build-2784847793"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,10,8]],"date-time":"2024-10-08T00:00:00Z","timestamp":1728345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101739"],"award-info":[{"award-number":["82101739"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Empty follicle syndrome (EFS) is a disorder characterised by the unsuccessful retrieval of oocytes from matured follicles following ovarian stimulation for in vitro fertilisation (IVF). Genetic factors significantly contribute to this pathology. To date, an increasing number of genetic mutations associated with GEFS have been documented, however, some cases still remain unexplained by these previously reported mutations. Here, we identified a novel homozygous missense\n                    <jats:italic>ZP1<\/jats:italic>\n                    variant (c.1096 C\u2009&gt;\u2009T, p.Arg366Trp) in a female patient with GEFS from a consanguineous family who failed to retrieve any oocytes during two cycles of IVF treatment. We conducted a molecular dynamics simulation analysis on the mutant ZP1 model, revealing that the mutant ZP1 protein has an altered 3D structure, lower fluctuation, higher compactness and higher instability than wild\u2010type ZP1. Immunostaining, immunoblotting and co\u2010immunoprecipitation results showed that the homozygous missense mutation in\n                    <jats:italic>ZP1<\/jats:italic>\n                    impaired protein secretion and weakened interactions between ZP1 and other ZP proteins, which may affect the ZP assembly. This study contributes to a more comprehensive understanding of the genetic aetiopathogenesis of GEFS.\n                  <\/jats:p>","DOI":"10.1111\/cge.14624","type":"journal-article","created":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T01:25:36Z","timestamp":1728437136000},"page":"147-156","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A Novel Homozygous Missense\n                    <scp>ZP1<\/scp>\n                    Variant Result in Human Female Empty Follicle Syndrome"],"prefix":"10.1111","volume":"107","author":[{"given":"Pei","family":"He","sequence":"first","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siping","family":"Liu","sequence":"additional","affiliation":[{"name":"The Center for Prenatal and Hereditary Disease Diagnosis, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Shi","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuyu","family":"Huang","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenfeng","family":"Li","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiamin","family":"Wu","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huixi","family":"Li","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junting","family":"Liu","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuyuan","family":"Wen","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weiqing","family":"Zhang","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuolin","family":"Qiu","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen","family":"Luo","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Hua","sequence":"additional","affiliation":[{"name":"The Center for Reproductive Medicine, Department of Obstetrics and Gynaecology Nanfang Hospital, Southern Medical University  Guangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,10,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rbmo.2017.04.012"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2007.07.1312"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0301-2115(99)00152-9"},{"issue":"2","key":"e_1_2_9_5_1","first-page":"549","article-title":"Empty Follicle Syndrome After GnRH Agonist Trigger, Rescued With HCG in a Donor Oocyte With Successful Pregnancy Outcome: A Case Report","volume":"5","author":"Akshaya M.","year":"2016","journal-title":"International Journal of Reproduction, 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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":"Human Reproduction"},{"key":"e_1_2_9_18_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":"Human Reproduction"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-019-01990-1"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1071965"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1207438"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.23816"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.theriogenology.2014.12.019"},{"key":"e_1_2_9_24_1","first-page":"413","volume-title":"Current Topics in Developmental Biology","author":"Marcel B.","year":"2018"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-10931-5"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(85)90089-0"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/nsb0902-646"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2018.08.011"},{"key":"e_1_2_9_29_1","first-page":"21","article-title":"Zona Pellucida Genes and Proteins and Human Fertility","volume":"13","author":"Litscher E. 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