Complex Autism Spectrum Disorder with Epilepsy, Strabismus and Self-Injurious Behaviors in a Patient with a De Novo Heterozygous POLR2A Variant
Autism spectrum disorder (ASD) describes a complex and heterogenous group of
neurodevelopmental disorders. Whole genome sequencing continues to shed light on the …
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 …
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 …
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 …
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
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 …
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 …
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 …
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 …
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 …
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 …
exclusive incorporation of subunit POLR3G (RPC7α) or POLR3GL (RPC7β), in mammals …