{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T21:37:26Z","timestamp":1761514646247,"version":"3.40.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2020]]},"abstract":"<jats:p>Male infertility is multifactorial and presents with heterogeneous phenotypic features. Genetic factors are responsible for up to 15% of the male infertility cases. Loss of the &lt;i&gt;Cstf2t&lt;\/i&gt; gene in male mice results in infertility. No disease-associated mutations have been described for this gene in infertile men. Here, we report a patient diagnosed with infertility in whom a homozygous nonsense mutation in the &lt;i&gt;CSTF2T&lt;\/i&gt; gene was detected by clinical exome sequencing. This case is the first description of an infertile patient who has a homozygous &lt;i&gt;CSTF2T&lt;\/i&gt; mutation. <\/jats:p>","DOI":"10.1159\/000509686","type":"journal-article","created":{"date-parts":[[2020,9,14]],"date-time":"2020-09-14T21:00:33Z","timestamp":1600117233000},"page":"228-231","source":"Crossref","is-referenced-by-count":2,"title":["First Infertile Case with &lt;b&gt;&lt;i&gt;CSTF2T&lt;\/i&gt;&lt;\/b&gt;Gene Mutation"],"prefix":"10.1159","volume":"11","author":[{"given":"Ozlem","family":"Gorukmez","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Orhan","family":"Gorukmez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2020,9,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0707589104"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/andr.12488"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0165976"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jri.2011.01.018"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.2164\/jandrol.111.014167"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2012.04.009"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/nature13908"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-cellbio-101011-155831"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0048373"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/nature07488"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.011"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.19.11095"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu703"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(00)82000-0"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.109.083238"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002\/bies.201300100"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/509686","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/509686","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:49:27Z","timestamp":1745423367000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000509686"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020]]},"references-count":16,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,11,6]]},"published-print":{"date-parts":[[2020,11,10]]}},"URL":"https:\/\/doi.org\/10.1159\/000509686","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2020]]}}}