{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T08:32:57Z","timestamp":1791361977302,"version":"4.3.1"},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2020,7,30]],"date-time":"2020-07-30T00:00:00Z","timestamp":1596067200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["31701085"],"award-info":[{"award-number":["31701085"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Asthenozoospermia is a common cause of male infertility associated with the reduced motility and\/or abnormal morphology of spermatozoa, although its etiology remains incompletely understood. Multiple morphological abnormalities of the sperm flagella (MMAF) is one of the main causes of asthenozoospermia. However, the MMAF\u2010associated genes identified to date cannot explain all the human MMAF cases. Herein, a loss\u2010of\u2010function mutation of\n                    <jats:italic>DNAH8<\/jats:italic>\n                    was identified in an asthenozoospermia patient with MMAF. Moreover, the negative effect of this mutation on DNAH8 expression was confirmed by immunofluorescence staining and western blotting. Remarkably, it is the first time that\n                    <jats:italic>DNAH8<\/jats:italic>\n                    is suggested to be associated with human MMAF. Our findings provide strong evidence that a loss\u2010of\u2010function mutation in\n                    <jats:italic>DNAH8<\/jats:italic>\n                    can cause male infertility with MMAF and that\n                    <jats:italic>DNAH8<\/jats:italic>\n                    is essential for sperm flagellar formation.\n                  <\/jats:p>","DOI":"10.1111\/cge.13815","type":"journal-article","created":{"date-parts":[[2020,7,18]],"date-time":"2020-07-18T07:54:21Z","timestamp":1595058861000},"page":"396-401","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Loss\u2010of\u2010function mutation in\n                    <scp>\n                      <i>DNAH8<\/i>\n                    <\/scp>\n                    induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella"],"prefix":"10.1111","volume":"98","author":[{"given":"Yihong","family":"Yang","sequence":"first","affiliation":[{"name":"Reproduction Medical Center of West China Second University Hospital, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chuan","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Joint Laboratory of Reproductive Medicine (SCU\u2010CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueguang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Joint Laboratory of Reproductive Medicine (SCU\u2010CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Liu","sequence":"additional","affiliation":[{"name":"Radiology Department of West China Second University Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinghong","family":"Li","sequence":"additional","affiliation":[{"name":"Reproduction Medical Center of West China Second University Hospital, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoyong","family":"Qiao","sequence":"additional","affiliation":[{"name":"Reproduction Medical Center of West China Second University Hospital, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongqian","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education West China Second University Hospital, Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1484-0807","authenticated-orcid":false,"given":"Ying","family":"Shen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics\/Gynecology, Joint Laboratory of Reproductive Medicine (SCU\u2010CUHK), Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital Sichuan University  Chengdu China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,7,30]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.017"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106479"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.04.015"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-08182-x"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033001"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22490"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181a53562"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-015-0162-5"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng817"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.020"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.152337699"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.016"}],"container-title":["Clinical 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