Population-level variation in enhancer expression identifies disease mechanisms in the human brain

P Dong, GE Hoffman, P Apontes, J Bendl, S Rahman… - Nature …, 2022 - nature.com
Identification of risk variants for neuropsychiatric diseases within enhancers underscores the
importance of understanding population-level variation in enhancer function in the human …

Neurobiological functions of transcriptional enhancers

AS Nord, AE West - Nature Neuroscience, 2020 - nature.com
Transcriptional enhancers are regulatory DNA elements that underlie the specificity and
dynamic patterns of gene expression. Over the past decade, large-scale functional …

[HTML][HTML] Genomic enhancers in brain health and disease

NVN Carullo, JJ Day - Genes, 2019 - mdpi.com
Enhancers are non-coding DNA elements that function in cis to regulate transcription from
nearby genes. Through direct interactions with gene promoters, enhancers give rise to …

[PDF][PDF] Enhancer domains predict gene pathogenicity and inform gene discovery in complex disease

X Wang, DB Goldstein - The American Journal of Human Genetics, 2020 - cell.com
Non-coding transcriptional regulatory elements are critical for controlling the spatiotemporal
expression of genes. Here, we demonstrate that the sizes and number of enhancers linked …

[HTML][HTML] Large-scale identification of coregulated enhancer networks in the adult human brain

MW Vermunt, P Reinink, J Korving, E de Bruijn… - Cell reports, 2014 - cell.com
Understanding the complexity of the human brain and its functional diversity remain a major
challenge. Distinct anatomical regions are involved in an array of processes, including …

[HTML][HTML] Transcriptional enhancers: functional insights and role in human disease

I Miguel-Escalada, L Pasquali, J Ferrer - Current Opinion in Genetics & …, 2015 - Elsevier
In recent years, studies of cis-regulatory mechanisms have evolved from a predominant
focus on promoter regions to the realization that spatial and temporal gene regulation is …

[PDF][PDF] DiseaseEnhancer: a resource of human disease-associated enhancer catalog

G Zhang, J Shi, S Zhu, Y Lan, L Xu, H Yuan… - Nucleic acids …, 2018 - academic.oup.com
Large-scale sequencing studies discovered substantial genetic variants occurring in
enhancers which regulate genes via long range chromatin interactions. Importantly, such …

[HTML][HTML] Enhancer–promoter specificity in gene transcription: molecular mechanisms and disease associations

MJ Friedman, T Wagner, H Lee… - … & Molecular Medicine, 2024 - nature.com
Although often located at a distance from their target gene promoters, enhancers are the
primary genomic determinants of temporal and spatial transcriptional specificity in …

Enhancer logic and mechanics in development and disease

R Rickels, A Shilatifard - Trends in cell biology, 2018 - cell.com
Enhancers are distally located genomic cis-regulatory elements that integrate
spatiotemporal cues to coordinate gene expression in a tissue-specific manner during …

[HTML][HTML] Genome-wide enhancer annotations differ significantly in genomic distribution, evolution, and function

ML Benton, SC Talipineni, D Kostka, JA Capra - Bmc Genomics, 2019 - Springer
Background Non-coding gene regulatory enhancers are essential to transcription in
mammalian cells. As a result, a large variety of experimental and computational strategies …