[HTML][HTML] Transcriptional regulation and its misregulation in disease

TI Lee, RA Young - Cell, 2013 - cell.com
The gene expression programs that establish and maintain specific cell states in humans
are controlled by thousands of transcription factors, cofactors, and chromatin regulators …

The emerging role of chromatin remodelers in neurodevelopmental disorders: a developmental perspective

B Mossink, M Negwer, D Schubert… - Cellular and Molecular …, 2021 - Springer
Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

Two independent modes of chromatin organization revealed by cohesin removal

W Schwarzer, N Abdennur, A Goloborodko… - Nature, 2017 - nature.com
Imaging and chromosome conformation capture studies have revealed several layers of
chromosome organization, including segregation into megabase-sized active and inactive …

Cohesin-dependence of neuronal gene expression relates to chromatin loop length

L Calderon, FD Weiss, JA Beagan, MS Oliveira… - Elife, 2022 - elifesciences.org
Cohesin and CTCF are major drivers of 3D genome organization, but their role in neurons is
still emerging. Here, we show a prominent role for cohesin in the expression of genes that …

Cohesin-based chromatin interactions enable regulated gene expression within preexisting architectural compartments

VC Seitan, AJ Faure, Y Zhan, RP McCord… - Genome …, 2013 - genome.cshlp.org
Chromosome conformation capture approaches have shown that interphase chromatin is
partitioned into spatially segregated Mb-sized compartments and sub-Mb-sized topological …

Deciphering the palimpsest: studying the relationship between morphological integration and phenotypic covariation

B Hallgrímsson, H Jamniczky, NM Young, C Rolian… - Evolutionary …, 2009 - Springer
Organisms represent a complex arrangement of anatomical structures and individuated
parts that must maintain functional associations through development. This integration of …

RAD21 mutations cause a human cohesinopathy

MA Deardorff, JJ Wilde, M Albrecht, E Dickinson… - The American Journal of …, 2012 - cell.com
The evolutionarily conserved cohesin complex was originally described for its role in
regulating sister-chromatid cohesion during mitosis and meiosis. Cohesin and its regulatory …

The maintenance of chromosome structure: positioning and functioning of SMC complexes

K Jeppsson, T Kanno, K Shirahige… - Nature reviews Molecular …, 2014 - nature.com
Structural maintenance of chromosomes (SMC) complexes, which in eukaryotic cells include
cohesin, condensin and the Smc5/6 complex, are central regulators of chromosome …

CTCF/cohesin-mediated DNA looping is required for protocadherin α promoter choice

Y Guo, K Monahan, H Wu, J Gertz… - Proceedings of the …, 2012 - National Acad Sciences
The closely linked human protocadherin (Pcdh) α, β, and γ gene clusters encode 53 distinct
protein isoforms, which are expressed in a combinatorial manner to generate enormous …

Cornelia de Lange syndrome

MI Boyle, C Jespersgaard, K Brøndum‐Nielsen… - Clinical …, 2015 - Wiley Online Library
Cornelia de Lange syndrome (CdLS; MIM# 122470, 300590, 610759, 614701, 300882) is a
rare and clinically variable disorder that affects multiple organs. It is characterized by …