{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T20:24:05Z","timestamp":1787775845799,"version":"build-2784847793"},"reference-count":39,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T00:00:00Z","timestamp":1736467200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Nonobstructive azoospermia (NOA), one of the most severe types of male infertility, etiology often remains unclear in most cases. Therefore, this study aimed to detect four biallelic detrimental variants (0.5%) in the minichromosome maintenance domain containing 2 (\n                    <jats:italic toggle=\"yes\">MCMDC2<\/jats:italic>\n                    ) genes in 768 NOA patients by whole-exome sequencing (WES). Hematoxylin and eosin (H&amp;E) demonstrated that\n                    <jats:italic toggle=\"yes\">MCMDC2<\/jats:italic>\n                    deleterious variants caused meiotic arrest in three patients (c.1360G&gt;T, c.1956G&gt;T, and c.685C&gt;T) and hypospermatogenesis in one patient (c.94G&gt;T), as further confirmed through immunofluorescence (IF) staining. The single-cell RNA sequencing data indicated that\n                    <jats:italic toggle=\"yes\">MCMDC2<\/jats:italic>\n                    was substantially expressed during spermatogenesis. The variants were confirmed as deleterious and responsible for patient infertility through bioinformatics and in vitro experimental analyses. The results revealed four\n                    <jats:italic toggle=\"yes\">MCMDC2<\/jats:italic>\n                    variants related to NOA, which contributes to the current perception of the function of\n                    <jats:italic toggle=\"yes\">MCMDC2<\/jats:italic>\n                    in male fertility and presents new perspectives on the genetic etiology of NOA.\n                  <\/jats:p>","DOI":"10.4103\/aja202495","type":"journal-article","created":{"date-parts":[[2025,1,10]],"date-time":"2025-01-10T01:00:34Z","timestamp":1736470834000},"page":"268-275","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Novel biallelic MCMDC2 variants were associated with meiotic arrest and nonobstructive azoospermia"],"prefix":"10.4103","volume":"27","author":[{"given":"Hao-Wei","family":"Bai","sequence":"first","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Xiang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Qiang","family":"Luo","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ru-Hui","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Hua","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fu-Rong","family":"Bai","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cun-Zhong","family":"Deng","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fu-Jun","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ren","family":"Mo","sequence":"additional","affiliation":[{"name":"Department of Urology, Inner Mongolia People\u2019s Hospital, Inner Mongolia Urological Institute, Hohhot 010017, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ning","family":"Chi","sequence":"additional","affiliation":[{"name":"Department of Urology, Inner Mongolia People\u2019s Hospital, Inner Mongolia Urological Institute, Hohhot 010017, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Chuan","family":"Zhou","sequence":"additional","affiliation":[{"name":"International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"},{"name":"Shanghai Key Laboratory of Embryo Original Diseases, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chen-Cheng","family":"Yao","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Er-Lei","family":"Zhi","sequence":"additional","affiliation":[{"name":"Department of Andrology, The Center for Men\u2019s Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200000, 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