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] Enhancers in disease: molecular basis and emerging treatment strategies

A Claringbould, JB Zaugg - Trends in molecular medicine, 2021 - cell.com
Enhancers are genomic sequences that play a key role in regulating tissue-specific gene
expression levels. An increasing number of diseases are linked to impaired enhancer …

Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation

A Mahajan, CN Spracklen, W Zhang, MCY Ng… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies
(GWAS) of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls …

[HTML][HTML] Defining the underlying defect in insulin action in type 2 diabetes

TM Batista, N Haider, CR Kahn - Diabetologia, 2021 - Springer
Insulin resistance is one of the earliest defects in the pathogenesis of type 2 diabetes. Over
the past 50 years, elucidation of the insulin signalling network has provided important …

[HTML][HTML] Insights from multi-omics integration in complex disease primary tissues

P Kreitmaier, G Katsoula, E Zeggini - Trends in Genetics, 2023 - cell.com
Genome-wide association studies (GWAS) have provided insights into the genetic basis of
complex diseases. In the next step, integrative multi-omics approaches can characterize …

[PDF][PDF] 3D enhancer-promoter interactions and multi-connected hubs: Organizational principles and functional roles

CM Uyehara, E Apostolou - Cell reports, 2023 - cell.com
The spatiotemporal control of gene expression is dependent on the activity of cis-acting
regulatory sequences, called enhancers, which regulate target genes over variable genomic …

[PDF][PDF] 3D chromatin maps of the human pancreas reveal lineage-specific regulatory architecture of T2D risk

C Su, L Gao, CL May, JA Pippin, K Boehm, M Lee… - Cell metabolism, 2022 - cell.com
Summary Three-dimensional (3D) chromatin organization maps help dissect cell-type-
specific gene regulatory programs. Furthermore, 3D chromatin maps contribute to …

[HTML][HTML] BACH2 inhibition reverses β cell failure in type 2 diabetes models

J Son, H Ding, TB Farb, AM Efanov… - The Journal of …, 2021 - Am Soc Clin Investig
Type 2 diabetes (T2D) is associated with defective insulin secretion and reduced β cell
mass. Available treatments provide a temporary reprieve, but secondary failure rates are …

CTCF is dispensable for immune cell transdifferentiation but facilitates an acute inflammatory response

G Stik, E Vidal, M Barrero, S Cuartero… - Nature …, 2020 - nature.com
Three-dimensional organization of the genome is important for transcriptional regulation,,,,,–
. In mammals, CTCF and the cohesin complex create submegabase structures with elevated …

Origins of human disease: the chrono-epigenetic perspective

ES Oh, A Petronis - Nature Reviews Genetics, 2021 - nature.com
Epigenetics has enriched human disease studies by adding new interpretations to disease
features that cannot be explained by genetic and environmental factors. However …