Stephen E. Hamby
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View article: Aging-related defects in macrophage function are driven by MYC and USF1 transcriptional programs
Aging-related defects in macrophage function are driven by MYC and USF1 transcriptional programs Open
Macrophages are central innate immune cells whose function declines with age. The molecular mechanisms underlying age-related changes remain poorly understood, particularly in human macrophages. We report a substantial reduction in phagocy…
View article: Ageing-related defects in macrophage function are driven by<i>MYC</i>and<i>USF1</i>transcriptional programmes
Ageing-related defects in macrophage function are driven by<i>MYC</i>and<i>USF1</i>transcriptional programmes Open
Summary Macrophages are central innate immune cells whose function declines with age. The molecular mechanisms underlying age-related immunity changes remain poorly understood, particularly in human macrophages. We report a substantial red…
View article: Tribbles 3 deficiency promotes atherosclerotic fibrous cap thickening and macrophage-mediated extracellular matrix remodelling
Tribbles 3 deficiency promotes atherosclerotic fibrous cap thickening and macrophage-mediated extracellular matrix remodelling Open
Tribbles 3 (TRIB3) modulates lipid and glucose metabolism, macrophage lipid uptake, with a gain-of-function variant associated with increased cardiovascular risk. Here we set out to examine the role of this pseudokinase in atherosclerotic …
View article: Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation
Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation Open
Spontaneous coronary artery dissection (SCAD) is an understudied cause of acute myocardial infarction primarily affecting women. It is not known to what extent SCAD is genetically distinct from other cardiovascular diseases, including athe…
View article: Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing Open
Background: Spontaneous coronary artery dissection (SCAD) is a cause of acute coronary syndrome that predominantly affects women. Its pathophysiology remains unclear but connective tissue disorders (CTD) and other vasculopathies have been …
View article: Whole blood transcriptomic profiling identifies molecular pathways related to cardiovascular mortality in heart failure
Whole blood transcriptomic profiling identifies molecular pathways related to cardiovascular mortality in heart failure Open
Aims Chronic heart failure (CHF) is a systemic syndrome with a poor prognosis and a need for novel therapies. We investigated whether whole blood transcriptomic profiling can provide new mechanistic insights into cardiovascular (CV) mortal…
View article: Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions Open
Introduction Bicuspid aortic valve (BAV) affects 1% of the general population. NOTCH1 was the first gene associated with BAV. The proportion of familial and sporadic BAV disease attributed to NOTCH1 mutations has not been estimated. Aim Th…
View article: TRIB1 regulates tumor growth via controlling tumor-associated macrophage phenotypes and is associated with breast cancer survival and treatment response
TRIB1 regulates tumor growth via controlling tumor-associated macrophage phenotypes and is associated with breast cancer survival and treatment response Open
Molecular mechanisms that regulate tumor-associated macrophage (TAM) phenotype and function are incompletely understood. The pseudokinase TRIB1 has been reported as a regulator of macrophage phenotypes, both in mouse and human systems. Met…
View article: Polygenic basis and biomedical consequences of telomere length variation
Polygenic basis and biomedical consequences of telomere length variation Open
Telomeres, the end fragments of chromosomes, play key roles in cellular proliferation and senescence. Here we characterize the genetic architecture of naturally occurring variation in leukocyte telomere length (LTL) and identify causal lin…
View article: TRIB1 regulates tumour growth via controlling tumour-associated macrophage phenotypes and is associated with breast cancer survival and treatment response
TRIB1 regulates tumour growth via controlling tumour-associated macrophage phenotypes and is associated with breast cancer survival and treatment response Open
Summary Molecular mechanisms that regulate tumour-associated macrophage (TAM) phenotype and function are incompletely understood. Here, we show that the pseudokinase TRIB1 is highly expressed by TAMs in breast cancer and that its expressio…
View article: Polygenic basis and biomedical consequences of telomere length variation
Polygenic basis and biomedical consequences of telomere length variation Open
Telomeres, the end fragments of chromosomes, play key roles in cellular proliferation and senescence 1 . Here we characterize the genetic architecture of naturally-occurring variation in leucocyte telomere length (LTL) and identify causal …
View article: Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length
Genome-wide association analysis in humans links nucleotide metabolism to leukocyte telomere length Open
Leukocyte telomere length (LTL) is a heritable biomarker of genomic aging. In this study, we perform a genome-wide meta-analysis of LTL by pooling densely genotyped and imputed association results across large-scale European-descent studie…
View article: UKB_telomere_gwas_summarystats.tsv.gz
UKB_telomere_gwas_summarystats.tsv.gz Open
Codd, Veryan, et al. "Polygenic basis and biomedical consequences of telomere length variation." medRxiv (2021). Column header Description variant_id The identifier of the variant : rsID or genome coordinate i.e. rs7329174 or 1:1235_C_G p_…
View article: Spontaneous Coronary Artery Dissection
Spontaneous Coronary Artery Dissection Open
Background: Spontaneous coronary artery dissection (SCAD) occurs when an epicardial coronary artery is narrowed or occluded by an intramural hematoma. SCAD mainly affects women and is associated with pregnancy and systemic arteriopathies, …
View article: Novel loss of function mutation in <i>NOTCH1</i> in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis
Novel loss of function mutation in <i>NOTCH1</i> in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis Open
Background Bicuspid aortic valve is the most common congenital valvular heart defect in the general population. BAV is associated with significant morbidity due to valve failure, formation of thoracic aortic aneurysm, and increased risk of…
View article: Rare loss-of-function mutations of <i>PTGIR</i> are enriched in fibromuscular dysplasia
Rare loss-of-function mutations of <i>PTGIR</i> are enriched in fibromuscular dysplasia Open
Aims Fibromuscular dysplasia (FMD) and spontaneous coronary artery dissection (SCAD) are related, non-atherosclerotic arterial diseases mainly affecting middle-aged women. Little is known about their physiopathological mechanisms. We aimed…
View article: Rare Loss-of-function Mutations of<i>PTGIR</i>Identified in Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection
Rare Loss-of-function Mutations of<i>PTGIR</i>Identified in Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection Open
Background Fibromuscular Dysplasia (FMD) and Spontaneous Coronary Artery Dissection (SCAD) are related, non-atherosclerotic arterial diseases mainly affecting middle-aged women. Little is known about their physiopathological mechanisms. Ob…
View article: Myeloid Tribbles 1 induces early atherosclerosis via enhanced foam cell expansion
Myeloid Tribbles 1 induces early atherosclerosis via enhanced foam cell expansion Open
Trib1 controls atherosclerotic plaque macrophage function by up-regulating OLR1, promoting foam cell formation and atherosclerosis.
View article: Myeloid Tribbles 1 induces early atherosclerosis via enhanced foam cell expansion
Myeloid Tribbles 1 induces early atherosclerosis via enhanced foam cell expansion Open
Macrophages drive atherosclerotic plaque progression and rupture, hence attenuating their atherosclerosis-inducing properties holds promise for reducing coronary heart disease (CHD). Recent studies in mouse models have demonstrated that Tr…
View article: Network analysis of coronary artery disease risk genes elucidates disease mechanisms and druggable targets
Network analysis of coronary artery disease risk genes elucidates disease mechanisms and druggable targets Open
Genome-wide association studies (GWAS) have identified over two hundred chromosomal loci that modulate risk of coronary artery disease (CAD). The genes affected by variants at these loci are largely unknown and an untapped resource to impr…
View article: Additional file 1: of Adult height and risk of 50 diseases: a combined epidemiological and genetic analysis
Additional file 1: of Adult height and risk of 50 diseases: a combined epidemiological and genetic analysis Open
Table S1. Case definition and data coverage. Table S6. Pathways identified by height-associated variants. (XLSX 45Â kb)
View article: 157 Myeloid expression of trib1 regulates the polarisation state of tissue resident macrophages that has consequences on plasma lipid and metabolic homeostasis
157 Myeloid expression of trib1 regulates the polarisation state of tissue resident macrophages that has consequences on plasma lipid and metabolic homeostasis Open
Introduction Genome wide association studies have identified Tribbles-1 ( TRIB1 ) to be significantly associated with all major plasma lipid traits and as a risk factor for ischaemic heart disease and myocardial infarction. Studies in mice…
View article: Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci
Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci Open
Rationale: Abdominal aortic aneurysm (AAA) is a complex disease with both genetic and environmental risk factors. Together, 6 previously identified risk loci only explain a small proportion of the heritability of AAA. Objective: To identif…