Publications by authors named "Meng-Si Lin"
Application of Genetic Origin Analysis of Copy Number Variations in Non-Invasive Prenatal Testing.
Prenat Diagn
January 2025
Article Synopsis
- The study evaluated the use of copy number variation (CNV) origin analysis in non-invasive prenatal testing (NIPT) to enhance its clinical application, involving over 35,000 patients from January 2019 to March 2023.
- Out of the pregnancies tested, 109 showed significant CNV results, with a majority being maternal/foetal CNVs; findings indicated that many of these abnormalities were small and had low penetrance.
- The diagnostic accuracy differed significantly between prenatal diagnoses for foetal CNVs compared to maternal/foetal CNVs, highlighting the potential effectiveness of NIPT in identifying genetic abnormalities in pregnancies.
Protein glycosylation is an extensively studied field, with the most studied forms being oxygen or nitrogen-linked N-acetylglucosamine (O-GlcNAc or N-GlcNAc) glycosylation. Particular residues on proteins are targeted by O-GlcNAcylation, which is among the most intricate post-translational modifications. Significantly contributing to an organism's proteome, it influences numerous factors affecting protein stability, function, and subcellular localization.
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