{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["26(5)"],"submitter":["Tang SX"],"pubmed_abstract":["<h4>Abstract</h4>The cause of asthenozoospermia (AZS) is not well understood because of its complexity and heterogeneity. Although some gene mutations have been identified as contributing factors, they are only responsible for a small number of cases. Radial spokes (RSs) are critical for adenosine triphosphate-driven flagellar beating and axoneme stability, which is essential for flagellum motility. In this study, we found novel compound heterozygous mutations in leucine-rich repeat-containing protein 23 ( LRRC23 ; c.1018C>T: p.Q340X and c.881_897 Del: p.R295Gfs*32) in a proband from a nonconsanguineous family with AZS and male infertility. Diff-Quik staining and scanning electron microscopy revealed no abnormal sperm morphology. Western blotting and immunofluorescence staining showed that"],"journal":["Asian journal of andrology"],"pagination":["484-489"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11449404"],"repository":["biostudies-literature"],"pubmed_title":["Novel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family."],"pmcid":["PMC11449404"],"pubmed_authors":["Chen Q","Liu SY","Xiao Z","Zhou S","Huang HL","Ding YL","Lin X","Zhou HL","Tang SX","Zhang X","Xiao H","Yang P","Chen X","Liu MX"],"additional_accession":[]},"is_claimable":false,"name":"Novel mutations in LRRC23 cause asthenozoospermia in a nonconsanguineous family.","description":"<h4>Abstract</h4>The cause of asthenozoospermia (AZS) is not well understood because of its complexity and heterogeneity. Although some gene mutations have been identified as contributing factors, they are only responsible for a small number of cases. Radial spokes (RSs) are critical for adenosine triphosphate-driven flagellar beating and axoneme stability, which is essential for flagellum motility. In this study, we found novel compound heterozygous mutations in leucine-rich repeat-containing protein 23 ( LRRC23 ; c.1018C>T: p.Q340X and c.881_897 Del: p.R295Gfs*32) in a proband from a nonconsanguineous family with AZS and male infertility. Diff-Quik staining and scanning electron microscopy revealed no abnormal sperm morphology. Western blotting and immunofluorescence staining showed that","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Sep","modification":"2025-04-18T15:56:47.399Z","creation":"2025-04-07T02:52:38.704Z"},"accession":"S-EPMC11449404","cross_references":{"pubmed":["39054792"],"doi":["10.4103/aja202435"]}}