{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T12:45:08Z","timestamp":1777725908739,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"12","license":[{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2020,12,1]],"date-time":"2020-12-01T00:00:00Z","timestamp":1606780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Project of cultivating Gusu heath personnel","award":["GSWS2019042"],"award-info":[{"award-number":["GSWS2019042"]}]},{"name":"Project of \u201cthe team of clinical medicine experts\u201d of Suzhou","award":["SZYJTD201705"],"award-info":[{"award-number":["SZYJTD201705"]}]},{"name":"Opening subject of State Key Laboratory of radiation medicine and radiation protection of Soochow University","award":["GZK1201901"],"award-info":[{"award-number":["GZK1201901"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:p>\n                    The mechanisms by which Y chromosome microdeletions cause infertility have been well described; however, the therapeutic targets remain a challenge. Here, we used whole-genome sequencing to explore the mechanism of Y chromosome deletion and potential therapeutic targets in a patient with infertility. There were no abnormalities in the patient\u2019s medical history. Routine semen analysis showed immotile sperm and only two motile spermatozoa were occasionally see after centrifugation, indicating that the direct cause of infertility was an abnormal sperm count and motility. A Y chromosome microdeletion test revealed partial deletion of the\n                    <jats:italic toggle=\"yes\">AZFc<\/jats:italic>\n                    region, including\n                    <jats:italic toggle=\"yes\">AZFc1<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">AZFc2<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">AZFc3<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">AZFc4<\/jats:italic>\n                    . Whole-genome sequencing showed that the patient had seven harmful mutations, with only one significant epigenetic mutation,\n                    <jats:italic toggle=\"yes\">SH3KBP1<\/jats:italic>\n                    . Gene Ontology analysis of these meaningful mutations indicated involvement of cAMP signaling pathways. The patient\u2019s wife became pregnant following\n                    <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                    fertilization, and no significant abnormalities were found during prenatal examination. This case suggests that Y chromosome microdeletion and gene mutation may affect the cAMP signaling pathway, leading to reduced sperm quality and male infertility.\n                  <\/jats:p>","DOI":"10.1177\/0300060520976494","type":"journal-article","created":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T23:16:53Z","timestamp":1607987813000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole-genome sequencing analysis of Y chromosome microdeletion: a case report"],"prefix":"10.1177","volume":"48","author":[{"given":"Zhixiang","family":"Gao","sequence":"first","affiliation":[{"name":"Second Affiliated Hospital of Soochow University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feng","family":"Yuan","sequence":"additional","affiliation":[{"name":"Second Affiliated Hospital of Soochow University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiaoqiao","family":"Li","sequence":"additional","affiliation":[{"name":"Second Affiliated Hospital of Soochow University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renlan","family":"Xia","sequence":"additional","affiliation":[{"name":"Second Affiliated Hospital of Soochow University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Fu","sequence":"additional","affiliation":[{"name":"Second Affiliated Hospital of Soochow University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boxin","family":"Xue","sequence":"additional","affiliation":[{"name":"Second Affiliated Hospital of Soochow University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7136-4299","authenticated-orcid":false,"given":"Xiaolong","family":"Liu","sequence":"additional","affiliation":[{"name":"Second Affiliated Hospital of Soochow University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,12,14]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/dev053"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2013.01.124"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/gar034"},{"key":"e_1_3_2_5_2","doi-asserted-by":"crossref","first-page":"844","DOI":"10.4103\/1008-682X.186880","article-title":"Importance of sperm morphology during sperm transport and fertilization in mammals","volume":"18","author":"Garc\u00eda-V\u00e1zquez FA","year":"2016","unstructured":"Garc\u00eda-V\u00e1zquez FA, Gadea J, Mat\u00e1s C, et\u00a0al. Importance of sperm morphology during sperm transport and fertilization in mammals. Asian J Androl 2016; 18: 844\u2013850.","journal-title":"Asian J Androl"},{"key":"e_1_3_2_6_2","first-page":"2","article-title":"Signaling mechanisms in mammalian sperm motility.","volume":"96","author":"Freitas MJ","year":"2017","unstructured":"Freitas MJ, Vijayaraghavan S, Fardilha M. Signaling mechanisms in mammalian sperm motility. Biol Reprod 2017; 96: 2\u201312.","journal-title":"Biol Reprod"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature01722"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw943"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.3484"},{"key":"e_1_3_2_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0405580101"},{"key":"e_1_3_2_11_2","doi-asserted-by":"publisher","DOI":"10.1530\/rep.0.1260183"},{"key":"e_1_3_2_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2006.06.006"},{"key":"e_1_3_2_13_2","first-page":"25","article-title":"The effect of oral administration of Pentoxifylline on sperm motility of asthenozoospermic ejaculates from men with or without testicular varicoceles","volume":"3","author":"Moein MR","year":"2005","unstructured":"Moein MR, Khalili MA, Davoudi A. The effect of oral administration of Pentoxifylline on sperm motility of asthenozoospermic ejaculates from men with or without testicular varicoceles. Iran J Reprod Med 2005; 3: 25\u201329.","journal-title":"Iran J Reprod Med"},{"key":"e_1_3_2_14_2","doi-asserted-by":"publisher","DOI":"10.32604\/biocell.2005.29.287"},{"key":"e_1_3_2_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcna.2017.10.008"}],"container-title":["Journal of International Medical Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0300060520976494","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/0300060520976494","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/0300060520976494","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T10:44:05Z","timestamp":1777459445000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/0300060520976494"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12]]},"references-count":14,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1177\/0300060520976494"],"URL":"https:\/\/doi.org\/10.1177\/0300060520976494","relation":{},"ISSN":["0300-0605","1473-2300"],"issn-type":[{"value":"0300-0605","type":"print"},{"value":"1473-2300","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12]]},"article-number":"0300060520976494"}}