CTCF shapes chromatin structure and gene expression in health and disease

B Dehingia, M Milewska, M Janowski, A Pękowska - EMBO reports, 2022 - embopress.org
CCCTC‐binding factor (CTCF) is an eleven zinc finger (ZF), multivalent transcriptional
regulator, that recognizes numerous motifs thanks to the deployment of distinct combinations …

Pleiotropy and cross-disorder genetics among psychiatric disorders

PH Lee, YCA Feng, JW Smoller - Biological psychiatry, 2021 - Elsevier
Genome-wide analyses of common and rare genetic variations have documented the
heritability of major psychiatric disorders, established their highly polygenic genetic …

Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction

R Karlsson Linnér, TT Mallard, PB Barr… - Nature …, 2021 - nature.com
Behaviors and disorders related to self-regulation, such as substance use, antisocial
behavior and attention-deficit/hyperactivity disorder, are collectively referred to as …

Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer's and Parkinson's diseases

MR Corces, A Shcherbina, S Kundu, MJ Gloudemans… - Nature …, 2020 - nature.com
Genome-wide association studies of neurological diseases have identified thousands of
variants associated with disease phenotypes. However, most of these variants do not alter …

Neuronal DNA double-strand breaks lead to genome structural variations and 3D genome disruption in neurodegeneration

V Dileep, CA Boix, H Mathys, A Marco, GM Welch… - Cell, 2023 - cell.com
Persistent DNA double-strand breaks (DSBs) in neurons are an early pathological hallmark
of neurodegenerative diseases including Alzheimer's disease (AD), with the potential to …

A computational tool (H-MAGMA) for improved prediction of brain-disorder risk genes by incorporating brain chromatin interaction profiles

NYA Sey, B Hu, W Mah, H Fauni, JC McAfee… - Nature …, 2020 - nature.com
Most risk variants for brain disorders identified by genome-wide association studies reside in
the noncoding genome, which makes deciphering biological mechanisms difficult. A …

Changes in genome architecture and transcriptional dynamics progress independently of sensory experience during post-natal brain development

L Tan, W Ma, H Wu, Y Zheng, D Xing, R Chen, X Li… - Cell, 2021 - cell.com
Both transcription and three-dimensional (3D) architecture of the mammalian genome play
critical roles in neurodevelopment and its disorders. However, 3D genome structures of …

Robust Hi-C maps of enhancer-promoter interactions reveal the function of non-coding genome in neural development and diseases

L Lu, X Liu, WK Huang, P Giusti-Rodríguez, J Cui… - Molecular cell, 2020 - cell.com
Genome-wide mapping of chromatin interactions at high resolution remains experimentally
and computationally challenging. Here we used a low-input" easy Hi-C" protocol to map the …

[HTML][HTML] Histone H3. 3G34-mutant interneuron progenitors co-opt PDGFRA for gliomagenesis

CCL Chen, S Deshmukh, S Jessa, D Hadjadj, V Lisi… - Cell, 2020 - cell.com
Summary Histone H3. 3 glycine 34 to arginine/valine (G34R/V) mutations drive deadly
gliomas and show exquisite regional and temporal specificity, suggesting a developmental …

Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes

M Song, X Yang, X Ren, L Maliskova, B Li, IR Jones… - Nature …, 2019 - nature.com
Mutations in gene regulatory elements have been associated with a wide range of complex
neuropsychiatric disorders. However, due to their cell-type specificity and difficulties in …