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Article

Nuclear speckleopathies: developmental disorders caused by variants in genes encoding nuclear speckle proteins.

Human genetics - 1 Apr 2024

Regan-Fendt Kelly E, Izumi Kosuke

Abstract excerpt

Nuclear speckles are small, membrane-less organelles that reside within the nucleus. Nuclear speckles serve as a regulatory hub coordinating complex RNA metabolism steps including gene transcription, pre-mRNA splicing, RNA modifications, and mRNA nuclear export. Reflecting the importance of proper nuclear speckle function in regulating normal human development, an increasing number of genetic disorders have been...

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PMID: 36929417
DOI: 10.1007/s00439-023-02540-6

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