Publications by authors named "Leontine M van Unen"
Article Synopsis
- The article referred to by DOI: 10.1371/journal.pgen.1006809 has been corrected to address inaccuracies or errors in the original publication.* -
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- Researchers and readers are encouraged to review the updated information to fully understand the implications of the study.*
Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely unexplored. Here, we provide evidence that biallelic Integrator Complex Subunit 1 (INTS1) and Subunit 8 (INTS8) gene mutations are associated with rare recessive human neurodevelopmental syndromes.
View Article and Find Full Text PDFMutations in FLNA (Filamin A, OMIM 300017) cause X-linked periventricular nodular heterotopia (XL-PNH). XL-PNH-associated mutations are considered lethal in hemizygous males. However, a few males with unusual mutations (including distal truncating and hypomorphic missense mutations), and somatic mosaicism have been reported to survive past infancy.
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