{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T19:10:15Z","timestamp":1783105815289,"version":"3.54.6"},"reference-count":30,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2018,11,29]],"date-time":"2018-11-29T00:00:00Z","timestamp":1543449600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2018,11,29]],"date-time":"2018-11-29T00:00:00Z","timestamp":1543449600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:p>\n                    Male infertility is a complex multifactorial disease affecting approximately 10% of couples who want to have children. Some cases of infertility can be explained by genetic factors. Septins are members of the GTPase superfamily, which are involved in diverse biological processes including morphogenesis, compartmentalization, cytokinesis, and apoptosis. The septin 12 gene,\n                    <jats:italic toggle=\"yes\">SEPT12<\/jats:italic>\n                    , is expressed exclusively in post-meiotic male germ cells and is considered as a critical gene for spermatogenesis. In this study, we evaluated 200 patients with non-obstructive azoospermia and detected mutations of 25 spermatogenesis-associated genes by targeted exome sequencing. We report a missense\n                    <jats:italic toggle=\"yes\">SEPT12<\/jats:italic>\n                    variant, c.673C&gt;A\/p.Gln225Lys, in an infertile man with non-obstructive azoospermia. The variation was located inside the GTPase domain and had a SIFT score of 0.02 (&lt;0.50) and was considered to be \u2018probably damaging\u2019 by PolyPhen. This case may provide clues to help establish the relationship between\n                    <jats:italic toggle=\"yes\">SEPT12<\/jats:italic>\n                    gene alterations and some cases of idiopathic male infertility. The role of this variant should thus be investigated further.\n                  <\/jats:p>","DOI":"10.1177\/0300060518811770","type":"journal-article","created":{"date-parts":[[2018,11,29]],"date-time":"2018-11-29T06:44:56Z","timestamp":1543473896000},"page":"992-998","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":7,"title":["Association of single nucleotide polymorphism c.673C&gt;A\/p.Gln225Lys in\n                    <i>SEPT12<\/i>\n                    gene with spermatogenesis failure in male idiopathic infertility in Northeast China"],"prefix":"10.1177","volume":"47","author":[{"given":"Dongfeng","family":"Geng","sequence":"first","affiliation":[{"name":"Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Yang","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongguo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaojun","family":"Liu","sequence":"additional","affiliation":[{"name":"Peking Medriv Academy of Genetics and Reproduction, Peking, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Yu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuting","family":"Jiang","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruizhi","family":"Liu","sequence":"additional","affiliation":[{"name":"Center for Reproductive Medicine, Center for Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China"},{"name":"*These authors contributed equally to this work."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guirong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Peking Medriv Academy of Genetics and Reproduction, Peking, China"},{"name":"*These authors contributed equally to this work."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,11,29]]},"reference":[{"key":"e_1_3_4_2_2","first-page":"503","article-title":"New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men","volume":"13","author":"Shahhoseini M","year":"2015","unstructured":"Shahhoseini M, Azad M, Sabbaghian M, et\u00a0al. New single nucleotide polymorphism G5508A in the SEPT12 gene may be associated with idiopathic male infertility in Iranian men. 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Predicting functional effect of human missense mutations using PolyPhen-2. 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