{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T11:16:53Z","timestamp":1778066213197,"version":"3.51.4"},"reference-count":27,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T00:00:00Z","timestamp":1778025600000},"content-version":"vor","delay-in-days":125,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004775","name":"Natural Science Foundation of Gansu Province","doi-asserted-by":"publisher","award":["23JRRA1389"],"award-info":[{"award-number":["23JRRA1389"]}],"id":[{"id":"10.13039\/501100004775","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Primary infertility affects 15% of couples worldwide, yet many genetic causes remain unknown. Through whole\u2010exome sequencing of a woman with primary infertility and repeated embryo implantation failure, we identified a novel homozygous frameshift mutation in\n                    <jats:italic>GREB1<\/jats:italic>\n                    (c.5364delC, p.Ala1789Argfs\u221742). Sanger sequencing confirmed heterozygous carrier status in both parents. Functional studies demonstrated the absence of nonsense\u2010mediated mRNA decay but abnormal\n                    <jats:italic>GREB1<\/jats:italic>\n                    protein expression via western blotting. Computational modeling predicted pathogenic structural alterations. This variant is absent in gnomAD\/ExAC databases. Our findings establish\n                    <jats:italic>GREB1<\/jats:italic>\n                    mutations as a novel cause of female infertility, highlighting its role in endometrial receptivity regulation.\n                  <\/jats:p>","DOI":"10.1155\/humu\/8849136","type":"journal-article","created":{"date-parts":[[2026,5,6]],"date-time":"2026-05-06T10:43:47Z","timestamp":1778064227000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Homozygous Frameshift Mutation in\n                    <i>GREB1<\/i>\n                    Leads to Female Infertility"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2304-8041","authenticated-orcid":false,"given":"Jinwei","family":"Yang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-1604-5059","authenticated-orcid":false,"given":"Linyan","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-6706-2683","authenticated-orcid":false,"given":"Bo","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1600-9590","authenticated-orcid":false,"given":"Hongbao","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-8748-1947","authenticated-orcid":false,"given":"Ting","family":"Hu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-2517-1585","authenticated-orcid":false,"given":"Xingyi","family":"Chao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4403-4830","authenticated-orcid":false,"given":"Chuan","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2863-8802","authenticated-orcid":false,"given":"Yali","family":"Ni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8525-7897","authenticated-orcid":false,"given":"Zhiqiang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,5,6]]},"reference":[{"key":"e_1_2_12_1_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2021.4788"},{"key":"e_1_2_12_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.02.015"},{"key":"e_1_2_12_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1510791"},{"key":"e_1_2_12_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/srep03894"},{"key":"e_1_2_12_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2010.08.006"},{"key":"e_1_2_12_6_2","doi-asserted-by":"publisher","DOI":"10.1530\/REP-15-0261"},{"key":"e_1_2_12_7_2","doi-asserted-by":"publisher","DOI":"10.4103\/aja.aja_56_20"},{"key":"e_1_2_12_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/biolre\/ioz084"},{"key":"e_1_2_12_9_2","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gax045"},{"key":"e_1_2_12_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/humupd\/dmac044"},{"key":"e_1_2_12_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.08.018"},{"key":"e_1_2_12_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/der384"},{"key":"e_1_2_12_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105936"},{"key":"e_1_2_12_14_2","first-page":"6367","article-title":"PDZK1 and GREB1 Are Estrogen-Regulated Genes Expressed in Hormone-Responsive Breast Cancer1, 2","volume":"60","author":"Ghosh M. 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