Search Results - "Helgadottir, Anna"
-
1
Variant ASGR1 Associated with a Reduced Risk of Coronary Artery Disease
Published in The New England journal of medicine (02-06-2016)“…ASGR1 Variant and Coronary Risk Genetic data show that a loss-of-function variant in ASGR1 is associated with reduced levels of non-HDL cholesterol and confers…”
Get full text
Journal Article -
2
-
3
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland
Published in Arteriosclerosis, thrombosis, and vascular biology (01-10-2021)“…Objective: Familial hypercholesterolemia (FH) is traditionally defined as a monogenic disease characterized by severely elevated LDL-C (low-density lipoprotein…”
Get full text
Journal Article -
4
Thiopurine Enhanced ALL Maintenance (TEAM): study protocol for a randomized study to evaluate the improvement in disease-free survival by adding very low dose 6-thioguanine to 6-mercaptopurine/methotrexate-based maintenance therapy in pediatric and adult patients (0-45 years) with newly diagnosed B-cell precursor or T-cell acute lymphoblastic leukemia treated according to the intermediate risk-high group of the ALLTogether1 protocol
Published in BMC cancer (02-05-2022)“…A critical challenge in current acute lymphoblastic leukemia (ALL) therapy is treatment intensification in order to reduce the relapse rate in the subset of…”
Get full text
Journal Article -
5
Sequence variants with large effects on cardiac electrophysiology and disease
Published in Nature communications (22-10-2019)“…Features of the QRS complex of the electrocardiogram, reflecting ventricular depolarisation, associate with various physiologic functions and several…”
Get full text
Journal Article -
6
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy
Published in Nature communications (16-04-2019)“…Nerve conduction (NC) studies generate measures of peripheral nerve function that can reveal underlying pathology due to axonal loss, demyelination or both. We…”
Get full text
Journal Article -
7
Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults
Published in JAMA cardiology (01-01-2020)“…Genetic studies have evaluated the influence of blood lipid levels on the risk of coronary artery disease (CAD), but less is known about how they are…”
Get more information
Journal Article -
8
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
Published in Communications biology (23-04-2020)“…Hemoglobin is the essential oxygen-carrying molecule in humans and is regulated by cellular iron and oxygen sensing mechanisms. To search for novel variants…”
Get full text
Journal Article -
9
Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation
Published in Communications biology (01-01-2018)“…Most sequence variants identified hitherto in genome-wide association studies (GWAS) of atrial fibrillation are common, non-coding variants associated with…”
Get full text
Journal Article -
10
Genetic variants associated with platelet count are predictive of human disease and physiological markers
Published in Communications biology (27-09-2021)“…Platelets play an important role in hemostasis and other aspects of vascular biology. We conducted a meta-analysis of platelet count GWAS using data on 536,974…”
Get full text
Journal Article -
11
A rare missense variant in NR1H4 associates with lower cholesterol levels
Published in Communications biology (01-01-2018)“…Searching for novel sequence variants associated with cholesterol levels is of particular interest due to the causative role of non-HDL cholesterol levels in…”
Get full text
Journal Article -
12
-
13
Time course analysis of gene expression identifies multiple genes with differential expression in patients with in-stent restenosis
Published in BMC medical genomics (28-02-2011)“…The vascular disease in-stent restenosis (ISR) is characterized by formation of neointima and adverse inward remodeling of the artery after injury by coronary…”
Get full text
Journal Article -
14
Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants
Published in Nature genetics (2022)“…The discovery of genetic loci associated with complex diseases has outpaced the elucidation of mechanisms of disease pathogenesis. Here we conducted a…”
Get full text
Journal Article -
15
Lipoprotein(a) Concentration and Risks of Cardiovascular Disease and Diabetes
Published in Journal of the American College of Cardiology (17-12-2019)“…Lipoprotein(a) [Lp(a)] is a causal risk factor for cardiovascular diseases that has no established therapy. The attribute of Lp(a) that affects cardiovascular…”
Get full text
Journal Article -
16
Multiomics study of nonalcoholic fatty liver disease
Published in Nature genetics (01-11-2022)“…Nonalcoholic fatty liver (NAFL) and its sequelae are growing health problems. We performed a genome-wide association study of NAFL, cirrhosis and…”
Get full text
Journal Article -
17
Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease
Published in Nature genetics (01-06-2016)“…Kari Stefansson and colleagues report discovery of 13 variants with large effects on non-HDL cholesterol, LDL cholesterol, HDL cholesterol or triglyceride…”
Get full text
Journal Article -
18
Genetic predisposition to hypertension is associated with preeclampsia in European and Central Asian women
Published in Nature communications (25-11-2020)“…Preeclampsia is a serious complication of pregnancy, affecting both maternal and fetal health. In genome-wide association meta-analysis of European and Central…”
Get full text
Journal Article -
19
Distinction between the effects of parental and fetal genomes on fetal growth
Published in Nature genetics (01-08-2021)“…Birth weight is a common measure of fetal growth that is associated with a range of health outcomes. It is directly affected by the fetal genome and indirectly…”
Get full text
Journal Article -
20
Insights into imprinting from parent-of-origin phased methylomes and transcriptomes
Published in Nature genetics (01-11-2018)“…Imprinting is the preferential expression of one parental allele over the other. It is controlled primarily through differential methylation of cytosine at CpG…”
Get full text
Journal Article