2023
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
2021
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice
Hwang JY, Nawaz S, Choi J, Wang H, Hussain S, Nawaz M, Lopez-Giraldez F, Jeong K, Dong W, Oh JN, Bilguvar K, Mane S, Lee CK, Bystroff C, Lifton RP, Ahmad W, Chung JJ. Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice. Frontiers In Cell And Developmental Biology 2021, 9: 662903. PMID: 33968937, PMCID: PMC8103034, DOI: 10.3389/fcell.2021.662903.Peer-Reviewed Original ResearchMultiple morphological abnormalitiesMale infertility casesMorphological abnormalitiesWhole-exome sequencingIrregular flagellaInfertility casesSperm flagella formationMMAF phenotypeSevere formMale infertilityAsthenozoospermic patientsMutant miceNon-synonymous variantsAbnormalitiesRecessive variantsCellular mechanismsGenetic factorsMMAFGenetic defectsPatientsMiceHeavy chain domainSperm morphologyAsthenozoospermiaSperm motility
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