[HTML][HTML] Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …
Genetics of coronary artery disease: discovery, biology and clinical translation
AV Khera, S Kathiresan - Nature Reviews Genetics, 2017 - nature.com
Coronary artery disease is the leading global cause of mortality. Long recognized to be
heritable, recent advances have started to unravel the genetic architecture of the disease …
heritable, recent advances have started to unravel the genetic architecture of the disease …
Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease
Nonalcoholic fatty liver disease (NAFLD) is common and partially heritable and has no
effective treatments. We carried out a genome-wide association study (GWAS) meta …
effective treatments. We carried out a genome-wide association study (GWAS) meta …
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Large-scale whole-genome sequencing studies have enabled the analysis of rare variants
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
(RVs) associated with complex phenotypes. Commonly used RV association tests have …
Genetic architecture: the shape of the genetic contribution to human traits and disease
Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
[HTML][HTML] The role of lipids and lipoproteins in atherosclerosis
MRF Linton, PG Yancey, SS Davies, WG Jerome… - Endotext …, 2019 - ncbi.nlm.nih.gov
Atherosclerosis is the underlying cause of heart attack and stroke. Early observations that
cholesterol is a key component of arterial plaques gave rise to the cholesterol hypothesis for …
cholesterol is a key component of arterial plaques gave rise to the cholesterol hypothesis for …
Global functions of O‐glycosylation: promises and challenges in O‐glycobiology
HH Wandall, MAI Nielsen, S King‐Smith… - The FEBS …, 2021 - Wiley Online Library
Mucin type O‐glycosylation is one of the most diverse types of glycosylation, playing
essential roles in tissue development and homeostasis. In complex organisms, O‐GalNAc …
essential roles in tissue development and homeostasis. In complex organisms, O‐GalNAc …
[HTML][HTML] Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
KG Aragam, T Jiang, A Goel, S Kanoni, BN Wolford… - Nature …, 2022 - nature.com
The discovery of genetic loci associated with complex diseases has outpaced the
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …
elucidation of mechanisms of disease pathogenesis. Here we conducted a genome-wide …
[HTML][HTML] β3-Adrenergic receptor downregulation leads to adipocyte catecholamine resistance in obesity
JM Valentine, M Ahmadian, O Keinan… - The Journal of …, 2022 - Am Soc Clin Investig
The dysregulation of energy homeostasis in obesity involves multihormone resistance.
Although leptin and insulin resistance have been well characterized, catecholamine …
Although leptin and insulin resistance have been well characterized, catecholamine …
[HTML][HTML] National Lipid Association recommendations for patient-centered management of dyslipidemia: part 2
TA Jacobson, KC Maki, CE Orringer, PH Jones… - Journal of clinical …, 2015 - Elsevier
Abstract An Expert Panel convened by the National Lipid Association previously developed
a consensus set of recommendations for the patient-centered management of dyslipidemia …
a consensus set of recommendations for the patient-centered management of dyslipidemia …