Mutations in PMFBP1 Cause Acephalic Spermatozoa Syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.06.010
Abstract: Acephalic spermatozoa syndrome is a severe teratozoospermia that leads to male infertility. Our previous work showed that biallelic SUN5 mutations are responsible for acephalic spermatozoa syndrome in about half of affected individuals, while pathogenic mechanisms… read more here.
Keywords: infertility; acephalic spermatozoa; mutations pmfbp1; spermatozoa syndrome ... See more keywords
Homozygous deletion of SUN5 in three men with decapitated spermatozoa
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DOI: 10.1093/hmg/ddx200
Abstract: A recent study of 17 men with decapitated spermatozoa found that 8 carried two rare SUN5 alleles, and concluded that loss of SUN5 function causes the acephalic spermatozoa syndrome. Consistent with this, the SUN5 protein… read more here.
Keywords: men decapitated; sun5; spermatozoa; decapitated spermatozoa ... See more keywords
Identification and Characterization of the Most Common Genetic Variant Responsible for Acephalic Spermatozoa Syndrome in Men Originating from North Africa
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DOI: 10.3390/ijms22042187
Abstract: Acephalic spermatozoa syndrome (ASS) is a rare but extremely severe type of teratozoospermia, defined by the presence of a majority of headless flagella and a minority of tail-less sperm heads in the ejaculate. Like the… read more here.
Keywords: ass; microscopy; variant; north africa ... See more keywords
Genetic pathogenesis of acephalic spermatozoa syndrome: past, present, and future.
Sign Up to like & getrecommendations! Published in 2022 at "Asian journal of andrology"
DOI: 10.4103/aja202198
Abstract: Acephalic spermatozoa syndrome (ASS) is one of the most severe spermatogenic failures of all infertility in men. The cognition of ASS has experienced a tortuous process. Over the past years, with the in-depth understanding of… read more here.
Keywords: acephalic spermatozoa; past present; genetic pathogenesis; pathogenesis acephalic ... See more keywords