Derepression of transcripts from hypomethylated pericentromeric repeats triggers an innate immune response in an animal model of Immunodeficency, Centromere and Facial anomalies (ICF) syndrome.
Correction of the DNA methyltransferase 3B gene in ICF1 syndrome fails to rescue the abnormal DNA hypomethylation at subtelomeric regions due to accompanied epigenetic abnormalities in these regions.
Research into genomic imprinting has provided a foundation for the study of epigenetic mechanisms, especially during development, and has also shed light on a range of rare genetic disorders and common diseases.
The rat is much more than a simple model, and a better appreciation of the natural history of wild rats would increase its value as a research organism.
mTOR signaling regulates the morphology of a human-enriched neural stem cell population and thus contributes to the radial architecture of the developing human cortex with implications for neurodevelopmental disease.
Genetic and biochemical analysis reveal a variant in HSF2BP causing POI and C19ORF57/BRME1 as an interactor and stabilizer of HSF2BP by forming a complex with BRCA2, RAD51, RPA and PALB2.
The loss of lamination in mammalian brain structures under cellular heterotopia carries with it non-uniform ramifications for the various components of the canonical CA1 microcircuitry.
The activin receptor ALK7 regulates the adaptation of brown adipose tissue to nutrient availability by preventing over-activation of signaling pathways induced by fasting, allowing appropriate response to cold exposure.
