{"id":"https://openalex.org/W4285390482","doi":"https://doi.org/10.1186/s12958-022-00976-5","title":"A loss-of-function variant in SSFA2 causes male infertility with globozoospermia and failed oocyte activation","display_name":"A loss-of-function variant in SSFA2 causes male infertility with globozoospermia and failed oocyte activation","publication_year":2022,"publication_date":"2022-07-14","ids":{"openalex":"https://openalex.org/W4285390482","doi":"https://doi.org/10.1186/s12958-022-00976-5","pmid":"https://pubmed.ncbi.nlm.nih.gov/35836265","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/9281110"},"language":"en","primary_location":{"id":"doi:10.1186/s12958-022-00976-5","doi":"https://doi.org/10.1186/s12958-022-00976-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12958-022-00976-5","pdf_url":"https://rbej.biomedcentral.com/counter/pdf/10.1186/s12958-022-00976-5","source":{"id":"https://openalex.org/S140121985","display_name":"Reproductive Biology and Endocrinology","issn_l":"1477-7827","issn":["1477-7827"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Reproductive Biology and Endocrinology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://rbej.biomedcentral.com/counter/pdf/10.1186/s12958-022-00976-5","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5102907944","display_name":"Gelin Huang","orcid":"https://orcid.org/0000-0002-0990-1900","observed_orcids":["https://orcid.org/0000-0002-0990-1900"]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Gelin Huang","raw_affiliation_strings":["Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Xueguang Zhang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xueguang Zhang","raw_affiliation_strings":["Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5048082507","display_name":"Guanping Yao","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I182386381","display_name":"Zunyi Medical University","ror":"https://ror.org/00g5b0g93","country_code":"CN","type":"education","lineage":["https://openalex.org/I182386381"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Guanping Yao","raw_affiliation_strings":["Department of Reproductive Medicine Center, The Affiliated Hospital of Zunyi Medical University, Zunyi, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Reproductive Medicine Center, The Affiliated Hospital of Zunyi Medical University, Zunyi, China","institution_ids":["https://openalex.org/I182386381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109461480","display_name":"Lin Huang","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Lin Huang","raw_affiliation_strings":["Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061992369","display_name":"Sixian Wu","orcid":"https://orcid.org/0000-0001-9396-9635","observed_orcids":["https://orcid.org/0000-0001-9396-9635"]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Sixian Wu","raw_affiliation_strings":["Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100693574","display_name":"Xiaoliang Li","orcid":"https://orcid.org/0000-0002-7689-1888","observed_orcids":["https://orcid.org/0000-0002-7689-1888"]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Xiaoliang Li","raw_affiliation_strings":["Department of Reproductive Endocrinology 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"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Reproductive Endocrinology 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","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010984608","display_name":"Juncen Guo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Juncen Guo","raw_affiliation_strings":["Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102946411","display_name":"Yuting Wen","orcid":"https://orcid.org/0000-0002-7188-9746","observed_orcids":["https://orcid.org/0000-0002-7188-9746"]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yuting Wen","raw_affiliation_strings":["Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5115695483","display_name":"Yan Wang","orcid":"https://orcid.org/0000-0002-1743-6383","observed_orcids":["https://orcid.org/0000-0002-1743-6383"]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":false,"raw_author_name":"Yan Wang","raw_affiliation_strings":["Department of Reproductive Endocrinology 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"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Reproductive Endocrinology 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","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100736008","display_name":"Lijun Shang","orcid":"https://orcid.org/0000-0001-5925-5903","observed_orcids":["https://orcid.org/0000-0001-5925-5903"]},"institutions":[{"id":"https://openalex.org/I126193024","display_name":"London Metropolitan University","ror":"https://ror.org/00ae33288","country_code":"GB","type":"education","lineage":["https://openalex.org/I126193024"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lijun Shang","raw_affiliation_strings":["School of Human Sciences, London Metropolitan University, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"School of Human Sciences, London Metropolitan University, London, UK","institution_ids":["https://openalex.org/I126193024"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5100368012","display_name":"Na Li","orcid":"https://orcid.org/0000-0001-6163-1648","observed_orcids":["https://orcid.org/0000-0001-6163-1648"]},"institutions":[{"id":"https://openalex.org/I4210105982","display_name":"Guangzhou Women and Children Medical Center","ror":"https://ror.org/01g53at17","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210105982"]},{"id":"https://openalex.org/I92039509","display_name":"Guangzhou Medical University","ror":"https://ror.org/00zat6v61","country_code":"CN","type":"education","lineage":["https://openalex.org/I92039509"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Na Li","raw_affiliation_strings":["Laboratory of Medical Systems Biology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. lina@cougarlab.org","Laboratory of Medical Systems Biology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Medical Systems Biology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China. lina@cougarlab.org","institution_ids":["https://openalex.org/I4210105982","https://openalex.org/I92039509"]},{"raw_affiliation_string":"Laboratory of Medical Systems Biology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China","institution_ids":["https://openalex.org/I4210105982","https://openalex.org/I92039509"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5101655555","display_name":"Wenming Xu","orcid":"https://orcid.org/0000-0002-3686-229X","observed_orcids":["https://orcid.org/0000-0002-3686-229X"]},"institutions":[{"id":"https://openalex.org/I24185976","display_name":"Sichuan University","ror":"https://ror.org/011ashp19","country_code":"CN","type":"education","lineage":["https://openalex.org/I24185976"]},{"id":"https://openalex.org/I4210089228","display_name":"West China Second University Hospital of Sichuan University","ror":"https://ror.org/00726et14","country_code":"CN","type":"healthcare","lineage":["https://openalex.org/I4210089228"]}],"countries":["CN"],"is_corresponding":true,"raw_author_name":"Wenming Xu","raw_affiliation_strings":["Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China. xuwenming@scu.edu.cn","Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China. xuwenming@scu.edu.cn","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]},{"raw_affiliation_string":"Department of Obstetrics/Gynecology, Key Laboratory of Obstetric, Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, Joint Lab for Reproductive Medicine(SCU-CUHK), West China Second University Hospital, Sichuan University, Chengdu, China","institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5100368012","https://openalex.org/A5101655555"],"corresponding_institution_ids":["https://openalex.org/I24185976","https://openalex.org/I4210089228","https://openalex.org/I4210105982","https://openalex.org/I92039509"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":2.0487,"has_fulltext":true,"cited_by_count":16,"citation_normalized_percentile":{"value":0.85334022,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":98},"biblio":{"volume":"20","issue":"1","first_page":"103","last_page":"103"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10116","display_name":"Sperm and Testicular Function","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10116","display_name":"Sperm and Testicular Function","score":0.9965999722480774,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10364","display_name":"Reproductive Biology and Fertility","score":0.0006000000284984708,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0003000000142492354,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/globozoospermia","display_name":"globozoospermia","score":0.984000027179718},{"id":"https://openalex.org/keywords/male-infertility","display_name":"male infertility","score":0.9210000038146973},{"id":"https://openalex.org/keywords/teratozoospermia","display_name":"teratozoospermia","score":0.8980000019073486},{"id":"https://openalex.org/keywords/loss-of-function-variants","display_name":"loss-of-function mutations","score":0.8569999933242798},{"id":"https://openalex.org/keywords/acrosome-formation","display_name":"acrosome formation","score":0.9010000228881836},{"id":"https://openalex.org/keywords/artificial-oocyte-activation","display_name":"artificial oocyte activation","score":0.9679999947547913},{"id":"https://openalex.org/keywords/intracytoplasmic-sperm-injection","display_name":"intracytoplasmic sperm injection","score":0.9259999990463257},{"id":"https://openalex.org/keywords/gstm3","display_name":"GSTM3","score":0.8989999890327454},{"id":"https://openalex.org/keywords/actin","display_name":"actin","score":0.8399999737739563},{"id":"https://openalex.org/keywords/genetic-diagnosis","display_name":"genetic diagnosis","score":0.7440000176429749}],"concepts":[{"id":"https://openalex.org/C179265757","wikidata":"https://www.wikidata.org/wiki/Q7095247","display_name":"Oocyte activation","level":4,"score":0.6836336255073547},{"id":"https://openalex.org/C2777688143","wikidata":"https://www.wikidata.org/wiki/Q179399","display_name":"Infertility","level":3,"score":0.6662406325340271},{"id":"https://openalex.org/C2776690073","wikidata":"https://www.wikidata.org/wiki/Q3246226","display_name":"Oocyte","level":3,"score":0.63651442527771},{"id":"https://openalex.org/C2777338322","wikidata":"https://www.wikidata.org/wiki/Q280156","display_name":"Male infertility","level":4,"score":0.47709351778030396},{"id":"https://openalex.org/C16685009","wikidata":"https://www.wikidata.org/wiki/Q335057","display_name":"Andrology","level":1,"score":0.45148664712905884},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4238380491733551},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.41814321279525757},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.37129825353622437},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.36176565289497375},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.2446928322315216},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.21704891324043274},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.1925238072872162},{"id":"https://openalex.org/C196843134","wikidata":"https://www.wikidata.org/wiki/Q33196","display_name":"Embryo","level":2,"score":0.1308339536190033}],"mesh":[{"descriptor_ui":"D000072660","descriptor_name":"Teratozoospermia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000072660","descriptor_name":"Teratozoospermia","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002853","descriptor_name":"Chromatography, Liquid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007248","descriptor_name":"Infertility, Male","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009865","descriptor_name":"Oocytes","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D012661","descriptor_name":"Semen","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D013094","descriptor_name":"Spermatozoa","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D053719","descriptor_name":"Tandem Mass Spectrometry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":5,"locations":[{"id":"doi:10.1186/s12958-022-00976-5","doi":"https://doi.org/10.1186/s12958-022-00976-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12958-022-00976-5","pdf_url":"https://rbej.biomedcentral.com/counter/pdf/10.1186/s12958-022-00976-5","source":{"id":"https://openalex.org/S140121985","display_name":"Reproductive Biology and Endocrinology","issn_l":"1477-7827","issn":["1477-7827"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Reproductive Biology and Endocrinology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:9281110","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9281110","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Reprod Biol Endocrinol","raw_type":"Text"},{"id":"pmid:35836265","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/35836265","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Reproductive biology and endocrinology : RB&E","raw_type":"Letter"},{"id":"pmh:oai:repository.londonmet.ac.uk:7818","doi":null,"is_oa":false,"landing_page_url":"http://repository.londonmet.ac.uk/7818/1/s12958-022-00976-5.pdf","pdf_url":"http://repository.londonmet.ac.uk/7818/1/s12958-022-00976-5.pdf","source":{"id":"https://openalex.org/S4306400140","display_name":"London Met Repository (London Metropolitan University)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I126193024","host_organization_name":"London Metropolitan University","host_organization_lineage":["https://openalex.org/I126193024"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"","raw_type":"Article"},{"id":"pmh:oai:doaj.org/article:eaf1a39b796b421daf54d2fe03b42985","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/eaf1a39b796b421daf54d2fe03b42985","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Reproductive Biology and Endocrinology, Vol 20, Iss 1, Pp 1-13 (2022)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s12958-022-00976-5","doi":"https://doi.org/10.1186/s12958-022-00976-5","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12958-022-00976-5","pdf_url":"https://rbej.biomedcentral.com/counter/pdf/10.1186/s12958-022-00976-5","source":{"id":"https://openalex.org/S140121985","display_name":"Reproductive Biology and Endocrinology","issn_l":"1477-7827","issn":["1477-7827"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Reproductive Biology and Endocrinology","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8999999761581421,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G4994876384","display_name":null,"funder_award_id":"2018YFC1003603","funder_id":"https://openalex.org/F4320335777","funder_display_name":"National Key Research and Development Program of China"}],"funders":[{"id":"https://openalex.org/F4320335777","display_name":"National Key Research and Development Program of China","ror":null}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4285390482.pdf","grobid_xml":"https://content.openalex.org/works/W4285390482.grobid-xml"},"referenced_works_count":58,"referenced_works":["https://openalex.org/W1969201403","https://openalex.org/W1974372991","https://openalex.org/W1979697362","https://openalex.org/W1988493865","https://openalex.org/W1990776032","https://openalex.org/W1992243294","https://openalex.org/W2009746137","https://openalex.org/W2010759967","https://openalex.org/W2047606126","https://openalex.org/W2062551127","https://openalex.org/W2064821767","https://openalex.org/W2066503404","https://openalex.org/W2071709406","https://openalex.org/W2074793941","https://openalex.org/W2083655431","https://openalex.org/W2089334040","https://openalex.org/W2097939257","https://openalex.org/W2103732636","https://openalex.org/W2106816098","https://openalex.org/W2119180969","https://openalex.org/W2125040592","https://openalex.org/W2126425887","https://openalex.org/W2127854497","https://openalex.org/W2130291533","https://openalex.org/W2134341806","https://openalex.org/W2139420159","https://openalex.org/W2141091568","https://openalex.org/W2146221458","https://openalex.org/W2159902645","https://openalex.org/W2160581079","https://openalex.org/W2160903957","https://openalex.org/W2167034990","https://openalex.org/W2191256670","https://openalex.org/W2319388219","https://openalex.org/W2326112268","https://openalex.org/W2409225279","https://openalex.org/W2413928763","https://openalex.org/W2418309185","https://openalex.org/W2471970444","https://openalex.org/W2592298241","https://openalex.org/W2615060641","https://openalex.org/W2736831818","https://openalex.org/W2766402566","https://openalex.org/W2780696566","https://openalex.org/W2783911624","https://openalex.org/W2905608283","https://openalex.org/W2964924071","https://openalex.org/W2965170132","https://openalex.org/W2970635457","https://openalex.org/W2983379256","https://openalex.org/W2993374807","https://openalex.org/W3002548424","https://openalex.org/W3003280727","https://openalex.org/W3009602257","https://openalex.org/W3175865819","https://openalex.org/W3184228824","https://openalex.org/W3214495899","https://openalex.org/W4211005481"],"related_works":["https://openalex.org/W6958790958","https://openalex.org/W2059740225","https://openalex.org/W295959497","https://openalex.org/W7154788540","https://openalex.org/W3175865819","https://openalex.org/W2975126669","https://openalex.org/W2025083830","https://openalex.org/W7066382752","https://openalex.org/W4248189705","https://openalex.org/W2732474695"],"abstract_inverted_index":{"Globozoospermia":[0],"(OMIM:":[1],"102530)":[2],"is":[3,15],"a":[4,34,102,111,134,164],"rare":[5],"type":[6],"of":[7,13,57,68,171,177],"teratozoospermia":[8],"(<":[9],"0.1%).":[10],"The":[11],"etiology":[12],"globozoospermia":[14],"complicated":[16],"and":[17,76,83,130,149],"has":[18,183],"not":[19],"been":[20],"fully":[21],"revealed.":[22],"Here,":[23],"we":[24],"report":[25],"an":[26,143],"infertile":[27],"patient":[28,125],"with":[29,86,126],"globozoospermia.":[30,160],"Variational":[31],"analysis":[32],"revealed":[33,90,139],"homozygous":[35,151],"missense":[36],"variant":[37,51,156],"in":[38,47,65,146,157,167,188],"the":[39,48,54,66,93,119,124,127,131,150,168,174],"SSFA2":[40,63,128,141,158,161],"gene":[41,166],"(NM_001130445.3:":[42],"c.3671G":[43,152],">":[44,153],"A;":[45],"p.R1224Q)":[46],"patient.":[49],"This":[50,137],"significantly":[52],"reduced":[53],"protein":[55],"expression":[56,64],"SSFA2.":[58,87],"Immunofluorescence":[59],"staining":[60],"showed":[61],"positive":[62],"acrosome":[67,147],"human":[69],"sperm.":[70],"Liquid":[71],"chromatography-mass":[72],"spectrometry/mass":[73],"spectrometry":[74],"(LC-MS/MS)":[75],"Coimmunoprecipitation":[77],"(Co-IP)":[78],"analyses":[79],"identified":[80],"that":[81,91,140],"GSTM3":[82],"Actin":[84],"interact":[85],"Further":[88],"investigation":[89],"for":[92,123,180,186],"patient,":[94],"regular":[95],"intracytoplasmic":[96],"sperm":[97],"injection":[98],"(ICSI)":[99],"treatment":[100,179,190],"had":[101],"poor":[103],"prognosis.":[104],"However,":[105],"Artificial":[106],"oocyte":[107,120],"activation":[108,121],"(AOA)":[109],"by":[110],"calcium":[112],"ionophore":[113],"(A23187)":[114],"after":[115],"ICSI":[116],"successfully":[117],"rescued":[118],"failure":[122],"variant,":[129],"couple":[132],"achieved":[133],"live":[135],"birth.":[136],"study":[138],"plays":[142],"important":[144],"role":[145],"formation,":[148],"A":[154],"loss-of-function":[155],"caused":[159],"may":[162],"represent":[163],"new":[165],"genetic":[169],"diagnosis":[170],"globozoospermia,":[172],"especially":[173],"successful":[175],"outcome":[176],"AOA-ICSI":[178],"couples,":[181],"which":[182],"potential":[184],"value":[185],"clinicians":[187],"their":[189],"regimen":[191],"selections.":[192]},"counts_by_year":[{"year":2026,"cited_by_count":3},{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":5}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2022-07-14T00:00:00"}
