{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T19:07:52Z","timestamp":1788030472929,"version":"build-2784847793"},"reference-count":35,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T00:00:00Z","timestamp":1725926400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Multiple morphological abnormalities of the flagella (MMAF) represent a severe form of sperm defects leading to asthenozoospermia and male infertility. In this study, we identified a novel homozygous splicing mutation (c.871-4 ACA&gt;A) in the adenylate kinase 7\n                    <jats:italic toggle=\"yes\">(AK7)<\/jats:italic>\n                    gene by whole-exome sequencing in infertile individuals. Spermatozoa from affected individuals exhibited typical MMAF characteristics, including coiled, bent, short, absent, and irregular flagella. Transmission electron microscopy analysis showed disorganized axonemal structure and abnormal mitochondrial sheets in sperm flagella. Immunofluorescence staining confirmed the absence of\n                    <jats:italic toggle=\"yes\">AK7<\/jats:italic>\n                    protein from the patients\u2019 spermatozoa, validating the pathogenic nature of the mutation. This study provides direct evidence linking the\n                    <jats:italic toggle=\"yes\">AK7<\/jats:italic>\n                    gene to MMAF-associated asthenozoospermia in humans, expanding the mutational spectrum of\n                    <jats:italic toggle=\"yes\">AK7<\/jats:italic>\n                    and enhancing our understanding of the genetic basis of male infertility.\n                  <\/jats:p>","DOI":"10.4103\/aja202471","type":"journal-article","created":{"date-parts":[[2024,9,10]],"date-time":"2024-09-10T10:12:30Z","timestamp":1725963150000},"page":"189-195","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":6,"title":["A novel homozygous splicing mutation in AK7 causes multiple morphological abnormalities of sperm flagella in patients from consanguineous Pakistani 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