Liver macrophages in health and disease

M Guilliams, CL Scott - Immunity, 2022 - cell.com
Single-cell and spatial transcriptomic technologies have revealed an underappreciated
heterogeneity of liver macrophages. This has led us to rethink the involvement of …

Lipolysis: cellular mechanisms for lipid mobilization from fat stores

GF Grabner, H Xie, M Schweiger, R Zechner - Nature metabolism, 2021 - nature.com
The perception that intracellular lipolysis is a straightforward process that releases fatty
acids from fat stores in adipose tissue to generate energy has experienced major revisions …

Cell-intrinsic lysosomal lipolysis is essential for alternative activation of macrophages

SCC Huang, B Everts, Y Ivanova, D O'sullivan… - Nature …, 2014 - nature.com
Alternative (M2) activation of macrophages driven via the α-chain of the receptor for
interleukin 4 (IL-4Rα) is important for immunity to parasites, wound healing, the prevention of …

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

C Pattaro, A Teumer, M Gorski, AY Chu, M Li… - Nature …, 2016 - nature.com
Reduced glomerular filtration rate defines chronic kidney disease and is associated with
cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide …

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis

BD Hobbs, K De Jong, M Lamontagne, Y Bossé… - Nature …, 2017 - nature.com
Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide.
We performed a genetic association study in 15,256 cases and 47,936 controls, with …

Exploiting macrophage autophagy-lysosomal biogenesis as a therapy for atherosclerosis

I Sergin, TD Evans, X Zhang, S Bhattacharya… - Nature …, 2017 - nature.com
Macrophages specialize in removing lipids and debris present in the atherosclerotic plaque.
However, plaque progression renders macrophages unable to degrade exogenous …

Linking disease associations with regulatory information in the human genome

MA Schaub, AP Boyle, A Kundaje, S Batzoglou… - Genome …, 2012 - genome.cshlp.org
Genome-wide association studies have been successful in identifying single nucleotide
polymorphisms (SNPs) associated with a large number of phenotypes. However, an …

Genetics of human cardiovascular disease

S Kathiresan, D Srivastava - Cell, 2012 - cell.com
Cardiovascular disease encompasses a range of conditions extending from myocardial
infarction to congenital heart disease, most of which are heritable. Enormous effort has been …

[HTML][HTML] Lysosomal acid lipase deficiency–an under-recognized cause of dyslipidaemia and liver dysfunction

Ž Reiner, O Guardamagna, D Nair, H Soran, K Hovingh… - Atherosclerosis, 2014 - Elsevier
Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage
disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of …

Genetic variants underlying risk of endometriosis: insights from meta-analysis of eight genome-wide association and replication datasets

N Rahmioglu, DR Nyholt, AP Morris… - Human reproduction …, 2014 - academic.oup.com
BACKGROUND Endometriosis is a heritable common gynaecological condition influenced
by multiple genetic and environmental factors. Genome-wide association studies (GWASs) …