{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,27]],"date-time":"2026-07-27T09:15:59Z","timestamp":1785143759666,"version":"3.55.0"},"reference-count":98,"publisher":"American Society for Clinical Investigation","issue":"22","license":[{"start":{"date-parts":[[2024,11,15]],"date-time":"2024-11-15T00:00:00Z","timestamp":1731628800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000024","name":"Canadian Institute of Health Research","doi-asserted-by":"crossref","award":["PJT - 180509,OGB \u2013 177939,"],"award-info":[{"award-number":["PJT - 180509,OGB \u2013 177939,"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institute of Health Research","doi-asserted-by":"crossref","award":["PJT - 155998"],"award-info":[{"award-number":["PJT - 155998"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100004489","name":"Mitacs","doi-asserted-by":"crossref","award":["IT31962"],"award-info":[{"award-number":["IT31962"]}],"id":[{"id":"10.13039\/501100004489","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,11,15]]},"abstract":"<jats:p>\n                    To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes,\n                    <jats:italic>FOXL2<\/jats:italic>\n                    ,\n                    <jats:italic>MAJIN<\/jats:italic>\n                    ,\n                    <jats:italic>KASH5<\/jats:italic>\n                    ,\n                    <jats:italic>SYCP2<\/jats:italic>\n                    ,\n                    <jats:italic>MEIOB<\/jats:italic>\n                    , and\n                    <jats:italic>HFM1<\/jats:italic>\n                    , in patients with androgenetic HMs, including a familial case of 3 affected members. Five of these genes are essential for meiosis I, and their deficiencies lead to premature ovarian insufficiency. Advanced maternal age is the strongest risk factor for sporadic androgenetic HM, which affects 1 in every 600 pregnancies. We studied\n                    <jats:italic>\n                      Hfm1\n                      <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    <\/jats:italic>\n                    female mice and found that these mice lost all their oocytes before puberty but retained some at younger ages. Oocytes from\n                    <jats:italic>\n                      Hfm1\n                      <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    <\/jats:italic>\n                    mice initiated meiotic maturation and extruded the first polar bodies in culture; however, their meiotic spindles were often positioned parallel, instead of perpendicular, to the ooplasmic membrane at telophase I, and some oocytes extruded the entire spindle with all the chromosomes into the polar bodies at metaphase II, a mechanism we previously reported in\n                    <jats:italic>\n                      Mei1\n                      <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    <\/jats:italic>\n                    oocytes. The occurrence of a common mechanism in two mouse models argues in favor of its plausibility at the origin of androgenetic HM formation in humans.\n                  <\/jats:p>","DOI":"10.1172\/jci170669","type":"journal-article","created":{"date-parts":[[2024,11,14]],"date-time":"2024-11-14T14:00:36Z","timestamp":1731592836000},"source":"Crossref","is-referenced-by-count":8,"title":["Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles"],"prefix":"10.1172","volume":"134","author":[{"given":"Maryam","family":"Rezaei","sequence":"first","affiliation":[{"name":"Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manqi","family":"Liang","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, McGill University Health Centre, Montreal, Quebec, 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