Abstract Background Neural tube defects (NTDs) are caused by genetic and environmental
factors. ARMC5 is part of a novel ubiquitin ligase specific for POLR2A, the largest subunit of …

Heterozygous pathogenic variants in POLR1A, which encodes the largest subunit of RNA
Polymerase I, were previously identified as the cause of acrofacial dysostosis, Cincinnati …

Dishevelled (DVL/Dvl) genes play roles in canonical and noncanonical Wnt signaling, both
of which are essential in neural tube closing and are involved in balancing neural progenitor …

ARMC5 is implicated in several pathological conditions, but its function remains unknown.
We have previously identified CUL3 and RPB1 (the largest subunit of RNA polymerase II …

Pathogenic variants in subunits of RNA polymerase (Pol) III cause a spectrum of
neurodegenerative diseases including 4H leukodystrophy. Disease onset occurs from …

De novo germline variation in POLR2A was recently reported to associate with a
neurodevelopmental disorder. We report twelve individuals harboring putatively pathogenic …

RNA polymerase III (Pol III) is an essential enzyme responsible for the synthesis of several
small noncoding RNAs, a number of which are involved in mRNA translation. Recessive …

RNA polymerase III (Pol III) synthesizes tRNAs and other small noncoding RNAs to regulate
protein synthesis. Dysregulation of Pol III transcription has been linked to cancer, and …

Introduction RNA polymerase III (Pol III) is a critical enzymatic complex tasked with the
transcription of ubiquitous non-coding RNAs including 5S rRNA and all tRNA genes …

Folate binding protein 1 (Folr1) knockout mice with low maternal folate concentrations have
been shown to be excellent animal models for human folate-responsive neural tube defects …