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Article

Homozygous ACTL9 mutations cause irregular mitochondrial sheath arrangement and abnormal flagellum assembly in spermatozoa and male infertility.

Journal of assisted reproduction and genetics - 1 Sept 2024

Li Qi, Huang Yilian, Zhang Shen, Gong Fei, Lu Guangxiu, Lin Ge, Dai Jing

Abstract excerpt

PURPOSE: To identify novel variants in ACTL9 and new phenotypes responsible for male infertility. METHODS: Genomic DNA was extracted from peripheral blood samples for whole-exome sequencing (WES). Computer-assisted sperm analysis (CASA) was used to test the motility of spermatozoa. The ultrastructure of flagella and the mitochondrial sheath were assessed by scanning electron microscopy (SEM) and transmission...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38963606
DOI: 10.1007/s10815-024-03171-0
PMCID: PMC11405356

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