[PDF][PDF] Deciphering the multi-scale, quantitative cis-regulatory code

S Kim, J Wysocka - Molecular cell, 2023 - cell.com
Uncovering the cis-regulatory code that governs when and how much each gene is
transcribed in a given genome and cellular state remains a central goal of biology. Here, we …

Mechanisms controlling pancreatic islet cell function in insulin secretion

JE Campbell, CB Newgard - Nature reviews Molecular cell biology, 2021 - nature.com
Metabolic homeostasis in mammals is tightly regulated by the complementary actions of
insulin and glucagon. The secretion of these hormones from pancreatic β-cells and α-cells …

Pancreatic β-cells in type 1 and type 2 diabetes mellitus: different pathways to failure

DL Eizirik, L Pasquali, M Cnop - Nature Reviews Endocrinology, 2020 - nature.com
Loss of functional β-cell mass is the key mechanism leading to the two main forms of
diabetes mellitus—type 1 diabetes mellitus (T1DM) and type 2 diabetes mellitus (T2DM) …

[HTML][HTML] Chromatin and gene-regulatory dynamics of the developing human cerebral cortex at single-cell resolution

AE Trevino, F Müller, J Andersen, L Sundaram… - Cell, 2021 - Elsevier
Genetic perturbations of cortical development can lead to neurodevelopmental disease,
including autism spectrum disorder (ASD). To identify genomic regions crucial to …

The trans-ancestral genomic architecture of glycemic traits

J Chen, CN Spracklen, G Marenne, A Varshney… - Nature …, 2021 - nature.com
Glycemic traits are used to diagnose and monitor type 2 diabetes and cardiometabolic
health. To date, most genetic studies of glycemic traits have focused on individuals of …

[PDF][PDF] Cohesin loss eliminates all loop domains

SSP Rao, SC Huang, BG St Hilaire, JM Engreitz… - Cell, 2017 - cell.com
The human genome folds to create thousands of intervals, called" contact domains," that
exhibit enhanced contact frequency within themselves." Loop domains" form because of …

[PDF][PDF] A phase separation model for transcriptional control

D Hnisz, K Shrinivas, RA Young, AK Chakraborty… - Cell, 2017 - cell.com
Phase-separated multi-molecular assemblies provide a general regulatory mechanism to
compartmentalize biochemical reactions within cells. We propose that a phase separation …

Enhancer redundancy in development and disease

EZ Kvon, R Waymack, M Gad, Z Wunderlich - Nature Reviews Genetics, 2021 - nature.com
Shadow enhancers are seemingly redundant transcriptional cis-regulatory elements that
regulate the same gene and drive overlapping expression patterns. Recent studies have …

Chromatin-state discovery and genome annotation with ChromHMM

J Ernst, M Kellis - Nature protocols, 2017 - nature.com
Noncoding DNA regions have central roles in human biology, evolution, and disease.
ChromHMM helps to annotate the noncoding genome using epigenomic information across …

An expanded genome-wide association study of type 2 diabetes in Europeans

RA Scott, LJ Scott, R Mägi, L Marullo, KJ Gaulton… - Diabetes, 2017 - Am Diabetes Assoc
To characterize type 2 diabetes (T2D)-associated variation across the allele frequency
spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D …