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A vast portion of intellectual disability and autism spectrum disorders is genetically caused by mutations in chromatin modulators. These proteins play key roles in development and are also highly expressed in the adult brain. Specifically, the pivotal role of chromatin regulation in transcription has placed enhancers at the core of neurodevelopmental disorders studies, ushering in the coining of the term enhanceropathies. The convergence of these disorders is multilayered, spanning from molecular causes to pathophysiological traits, including extensive overlaps between enhanceropathies and neurocristopathies. The reconstruction of epigenetic circuitries wiring development and underlying cognitive functions has gone hand in hand with the development of tools that increase the sensitivity of identifying regulatory regions and linking enhancers to their target genes. The available models, including loop-extrusion and phase-separation, have been bringing into relief complementarity aspects to interpret gene regulation datasets, reinforcing the idea that enhancers are not all the same and that regulatory regions possess shades of enhancer-ness and promoter-ness. The current limits in enhancer definition, within the emerging broader understanding of chromatin dynamics in time and space, are now on the verge of beingh transformed by the possibility to interrogate developmentally relevant 3D cellular models at single-cell resolution and. Here we discuss the contours of how these technological advances, and the epistemic limitationa thay are set to overcome, may well usher in a change of paradigm for neurodevelopmental disorders, moving the quest for convergence from enhancers to the 4D genome.
This article was published in the following journal.
Name: Human molecular genetics
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Recently, the mechanisms underlying epigenetic dysregulation associated with neurodevelopmental disorders have attracted increasing attention. Although most neurodevelopmental disorders in humans are ...
A defining feature of sexual reproduction is the transmission of genomic information from both parents to the offspring. There is now compelling evidence that the inheritance of such genetic informati...
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This study is designed to test the effects of prebiotics on cognition, behavior and physiology in healthy volunteers.
The systematic study of the global gene expression changes due to EPIGENETIC PROCESSES and not due to DNA base sequence changes.
Measures of spatial cognition and memory.
Intellectual or mental process whereby an organism becomes aware of or obtains knowledge.
Disturbances in the mental process related to thinking, reasoning, and judgment.
Adherent debris produced when cutting the enamel or dentin in cavity preparation. It is about 1 micron thick and its composition reflects the underlying dentin, although different quantities and qualities of smear layer can be produced by the various instrumentation techniques. Its function is presumed to be protective, as it lowers dentin permeability. However, it masks the underlying dentin and interferes with attempts to bond dental material to the dentin.
The development and maintenance of an organism is orchestrated by a set of chemical reactions that switch parts of the genome off and on at strategic times and locations. Epigenetics is the study of these reactions and the factors that influence them. ...
Neurology - Central Nervous System (CNS)
Alzheimer's Disease Anesthesia Anxiety Disorders Autism Bipolar Disorders Dementia Epilepsy Multiple Sclerosis (MS) Neurology Pain Parkinson's Disease Sleep Disorders Neurology is the branch of me...