Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant

DR Evans, Y Qiao, B Trost, K Calli, S Martell… - Genes, 2022 - mdpi.com
Autism spectrum disorder (ASD) describes a complex and heterogenous group of
neurodevelopmental disorders. Whole genome sequencing continues to shed light on the …

Cis elements that mediate RNA polymerase II pausing regulate human gene expression

JA Watts, J Burdick, J Daigneault, Z Zhu… - The American Journal of …, 2019 - cell.com
Aberrant gene expression underlies many human diseases. RNA polymerase II (Pol II)
pausing is a key regulatory step in transcription. Here, we mapped the locations of RNA Pol …

The continuing challenge of understanding, preventing, and treating neural tube defects

JB Wallingford, LA Niswander, GM Shaw, RH Finnell - Science, 2013 - science.org
Background Neural tube defects (NTDs) are debilitating birth defects involving the central
nervous system (CNS). Despite recent advances, NTDs represent the second most common …

Proximity labeling identifies a repertoire of site-specific R-loop modulators

Q Yan, P Wulfridge, J Doherty… - Nature …, 2022 - nature.com
R-loops are three-stranded nucleic acid structures that accumulate on chromatin in
neurological diseases and cancers and contribute to genome instability. Using a proximity …

DNA methylation analysis of Homeobox genes implicates HOXB7 hypomethylation as risk factor for neural tube defects

A Rochtus, B Izzi, E Vangeel, S Louwette… - Epigenetics, 2015 - Taylor & Francis
Neural tube defects (NTDs) are common birth defects of complex etiology. Though family-
and population-based studies have confirmed a genetic component, the responsible genes …

Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation

K Lee, T Mattiske, K Kitamura, J Gecz… - Human molecular …, 2014 - academic.oup.com
Intellectual disability (ID) is a highly prevalent disorder that affects 1–3% of the population.
The Aristaless-related homeobox gene (ARX) is a frequently mutated X-linked ID gene and …

MYT1L is required for suppressing earlier neuronal development programs in the adult mouse brain

J Chen, NA Fuhler, KK Noguchi… - Genome research, 2023 - genome.cshlp.org
In vitro studies indicate the neurodevelopmental disorder gene myelin transcription factor 1-
like (MYT1L) suppresses non-neuronal lineage genes during fibroblast-to-neuron direct …

Lamin b1 polymorphism influences morphology of the nuclear envelope, cell cycle progression, and risk of neural tube defects in mice

SCP De Castro, A Malhas, KY Leung… - PLoS …, 2012 - journals.plos.org
Neural tube defects (NTDs), including spina bifida and anencephaly, are common birth
defects whose complex multigenic causation has hampered efforts to delineate their …

Structure of human RNA polymerase III

EP Ramsay, G Abascal-Palacios, JL Daiß… - Nature …, 2020 - nature.com
Abstract In eukaryotes, RNA Polymerase (Pol) III is specialized for the transcription of tRNAs
and other short, untranslated RNAs. Pol III is a determinant of cellular growth and lifespan …

A cancer-associated RNA polymerase III identity drives robust transcription and expression of snaR-A noncoding RNA

K Van Bortle, DP Marciano, Q Liu, T Chou… - Nature …, 2022 - nature.com
Abstract RNA polymerase III (Pol III) includes two alternate isoforms, defined by mutually
exclusive incorporation of subunit POLR3G (RPC7α) or POLR3GL (RPC7β), in mammals …