Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2078
Abstract: Multiple morphological abnormalities of the sperm flagella (MMAF), which is characterized as asthenoteratospermia involving absent, short, bent, coiled, and/or irregular‐caliber flagella, is a rare recessive inherited disorder associated with male infertility. To date, genetic causes… read more here.
Keywords: novel biallelic; mutations ttc29; biallelic mutations; asthenoteratospermia ... See more keywords
Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.
Sign Up to like & getrecommendations! Published in 2021 at "DNA and cell biology"
DOI: 10.1089/dna.2021.0097
Abstract: Sperm motility is vital to human reproduction, and malformed sperm flagella can cause male infertility. Individuals with multiple morphological abnormalities of the flagella mostly have absent, short, coiled, bent, and/or irregular-caliber flagella. In this study,… read more here.
Keywords: morphological abnormalities; novel biallelic; microscopy; sperm flagella ... See more keywords
Novel biallelic variants expand the phenotype of NAA20-related syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "Clinical genetics"
DOI: 10.1111/cge.14359
Abstract: NAA20 is the catalytic subunit of the NatB complex, which is responsible for N-terminal acetylation of approximately 20% of the human proteome. Recently, pathogenic biallelic variants in NAA20 were associated with a novel neurodevelopmental disorder… read more here.
Keywords: novel biallelic; phenotype naa20; naa20 related; biallelic variants ... See more keywords