A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella
Chang T, Tang H, Zhou X, He J, Liu N, Li Y, Xiang W, Yao Z. A novel homozygous nonsense variant of AK7 is associated with multiple morphological abnormalities of the sperm flagella. Reproductive BioMedicine Online 2023, 48: 103765. PMID: 38492416, DOI: 10.1016/j.rbmo.2023.103765.Peer-Reviewed Original ResearchConceptsHomozygous nonsense variantMultiple morphological abnormalitiesWhole-exome sequencingSperm flagellaAssociated with multiple morphological abnormalitiesMitochondrial function of spermatozoaFlagella-associated proteinsFunction of spermatozoaPotential gene variantsMitochondrial metabolic dysfunctionSperm ultrastructureFlagellar assemblyPatient's spermatozoaFlagellar defectsRate of apoptosisConcentration of reactive oxygen speciesMale infertilitySanger sequencingReactive oxygen speciesMitochondrial functionSpermSpermatozoaMutated genesFunctional associationDisease phenotype
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