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Hereditary angioedema (HAE) is a rare and potentially life-threatening disease. The pathogenesis of HAE is not well understood. Moreover, non-invasive disease biomarkers are strongly needed for early diagnosis and clinical management of HAE.
ORGANISM(S): Homo Sapiens 
2023-09-18 | PXD045435 |
Through whole-exome sequencing of 800 patients with asthenozoospermia, we identified biallelic TEX44 variants in six individuals, all of whom exhibited defective mitochondrial sheath assembly and impaired sperm motility. Using Tex44 knockout mice, we demonstrated that TEX44 interacts with carnitine ...
ORGANISM(S): Mus Musculus 
2025-02-20 | PXD060989 |
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