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Abstract Circular RNAs (circRNAs) are emerging as important regulators in mammalian cells and promising substrates for RNA therapeutics, yet the trans-acting factors governing their metabolism remain poorly defined. Here we systematically evaluate 730 RNA-binding proteins (RBPs) using a tethered reporter assay and identify 281 RBPs that significantly modulate circRNA activity.
Abstract Background: NR5A1 plays a critical role in sex differentiation and adrenal development. As a transcription factor, it regulates multiple genes involved in reproductive and endocrine processes. Mutations in NR5A1 are commonly associated with disorders of sex development and adrenal insufficiency, and most reported variants are located in coding regions. Methods: A de novo NR5A1 c.−16 + 1G > A mutation was identified in a 2-year-old patient who was gender-ambiguous.
Correction to: Nature Communications https://doi.org/10.1038/s41467-021-21537-1, published online 05 March 2021. The original version of the Supplementary Information associated with this Article contained an error in Supplementary Data 2 in which information that is not pertaining to the data reported in this paper was inadvertently included. The HTML has been updated to include a corrected version of Supplementary Data 2.
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