Publications by authors named "N P J Owens"
Emerging evidence suggests that the nuclear pore complex can have unique compositions and distinct nucleoporin functions in different cells. Here, we show that Nup107, a key component of the NPC scaffold, varies in expression over development: it is expressed at higher levels in the blastula compared to the gastrula suggesting a critical role prior to gastrulation. We find depletion of Nup107 affects the differentiation of the early germ layers leading to an expansion of the ectoderm at the expense of endoderm and mesoderm.
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- The study investigates how rare non-coding genetic variations affect complex traits, specifically focusing on human height by analyzing data from over 333,100 individuals across three large datasets.
- Researchers found 29 significant rare variants linked to height, with impacts ranging from a decrease of 7 cm to an increase of 4.7 cm, after considering previously known variants.
- The team also identified specific non-coding variants near key genes associated with height, demonstrating a new method for understanding the effects of rare variants in regulatory regions using whole-genome sequencing.
Article Synopsis
- Human genetic studies reveal new insights into the biological processes of ovarian aging through rare protein-coding variants in a large study of women.
- The genes identified (e.g., SAMHD1 and ZNF518A) show stronger effects on reproductive lifespan and cancer risk compared to common variants, with some variants linked to earlier menopause.
- The research suggests a connection between genetic factors influencing ovarian aging and an increased incidence of de novo mutations, highlighting the importance of DNA damage response in fertility.