Characterizing cis-regulatory elements using single-cell epigenomics

S Preissl, KJ Gaulton, B Ren - Nature Reviews Genetics, 2023 - nature.com
Cell type-specific gene expression patterns and dynamics during development or in disease
are controlled by cis-regulatory elements (CREs), such as promoters and enhancers …

Single-cell and spatial transcriptomics: deciphering brain complexity in health and disease

M Piwecka, N Rajewsky, A Rybak-Wolf - Nature Reviews Neurology, 2023 - nature.com
In the past decade, single-cell technologies have proliferated and improved from their
technically challenging beginnings to become common laboratory methods capable of …

Human disease models in drug development

A Loewa, JJ Feng, S Hedtrich - Nature reviews bioengineering, 2023 - nature.com
Biomedical research is undergoing a paradigm shift towards approaches centred on human
disease models owing to the notoriously high failure rates of the current drug development …

Human brain organogenesis: Toward a cellular understanding of development and disease

KW Kelley, SP Pașca - Cell, 2022 - cell.com
The construction of the human nervous system is a distinctly complex although highly
regulated process. Human tissue inaccessibility has impeded a molecular understanding of …

Single-nucleus chromatin accessibility profiling highlights regulatory mechanisms of coronary artery disease risk

AW Turner, SS Hu, JV Mosquera, WF Ma… - Nature …, 2022 - nature.com
Coronary artery disease (CAD) is a complex inflammatory disease involving genetic
influences across cell types. Genome-wide association studies have identified over 200 loci …

Developmental mechanisms underlying the evolution of human cortical circuits

P Vanderhaeghen, F Polleux - Nature Reviews Neuroscience, 2023 - nature.com
The brain of modern humans has evolved remarkable computational abilities that enable
higher cognitive functions. These capacities are tightly linked to an increase in the size and …

ISSAAC-seq enables sensitive and flexible multimodal profiling of chromatin accessibility and gene expression in single cells

W Xu, W Yang, Y Zhang, Y Chen, N Hong, Q Zhang… - Nature …, 2022 - nature.com
Joint profiling of chromatin accessibility and gene expression from the same single cell
provides critical information about cell types in a tissue and cell states during a dynamic …

Genetic insights into human cortical organization and development through genome-wide analyses of 2,347 neuroimaging phenotypes

V Warrier, EM Stauffer, QQ Huang, EM Wigdor… - Nature …, 2023 - nature.com
Our understanding of the genetics of the human cerebral cortex is limited both in terms of the
diversity and the anatomical granularity of brain structural phenotypes. Here we conducted a …

Single-nucleus genomics in outbred rats with divergent cocaine addiction-like behaviors reveals changes in amygdala GABAergic inhibition

JL Zhou, G de Guglielmo, AJ Ho, M Kallupi… - Nature …, 2023 - nature.com
The amygdala processes positive and negative valence and contributes to addiction, but the
cell-type-specific gene regulatory programs involved are unknown. We generated an atlas of …

Comparative single-cell transcriptomic analysis of primate brains highlights human-specific regulatory evolution

H Suresh, M Crow, N Jorstad, R Hodge… - Nature Ecology & …, 2023 - nature.com
Enhanced cognitive function in humans is hypothesized to result from cortical expansion
and increased cellular diversity. However, the mechanisms that drive these phenotypic …