Publications
Now showing items 521-540 of 4875 records
Gene expression and RNA splicing explain large proportions of the heritability for complex traits in cattle.
CELL GENOMICS - 11 Oct 2023
Many quantitative trait loci (QTLs) are in non-coding regions. Therefore, QTLs are assumed to affect gene regulation. Gene expression and RNA splicing are primary steps of transcription, so DNA variants changing gene expression (eVariants) or RNA splicing (sVariants) are expected to significantly affect phenotypes. We quantify the contribution of eVariants and sVariants detected from 16 tissues...
CSM-Potential2: A comprehensive deep learning platform for the analysis of protein interacting interfaces.
PROTEINS - 23 Oct 2023
Proteins are molecular machinery that participate in virtually all essential biological functions within the cell, which are tightly related to their 3D structure. The importance of understanding protein structure-function relationship is highlighted by the exponential growth of experimental structures, which has been greatly expanded by recent breakthroughs in protein structure prediction, mos...
Characterizing and predicting ccRCC-causing missense mutations in Von Hippel-Lindau disease.
HUMAN MOLECULAR GENETICS - 26 Oct 2023
Mutations within the Von Hippel-Lindau (VHL) tumor suppressor gene are known to cause VHL disease, which is characterized by the formation of cysts and tumors in multiple organs of the body, particularly clear cell renal cell carcinoma (ccRCC). A major challenge in clinical practice is determining tumor risk from a given mutation in the VHL gene. Previous efforts have been hindered by limited a...
No Association Between Out-of-Hospital Cardiac Arrest and COVID-19 Vaccination.
CIRCULATION - 25 Apr 2023
Epigenetic and transcriptional regulation of CCL17 production by glucocorticoids in arthritis.
ISCIENCE - 20 Oct 2023
Glucocorticoids (GCs) are potent anti-inflammatory agents and are broadly used in treating rheumatoid arthritis (RA) patients, albeit with adverse side effects associated with long-term usage. The negative consequences of GC therapy provide an impetus for research into gaining insights into the molecular mechanisms of GC action. We have previously reported that granulocyte-macrophage colony-sti...
Author Correction: Greengenes2 unifies microbial data in a single reference tree.
NATURE BIOTECHNOLOGY - 18 Oct 2023
Tracking of Cardiorespiratory Fitness from Childhood to Mid-Adulthood.
THE JOURNAL OF PEDIATRICS - 15 Oct 2023
High cardiorespiratory fitness (CRF) in adulthood is important for survival from major chronic diseases and preserving good health. We examined how childhood CRF tracks, or persists, into adulthood. Among a cohort of 748 school children followed over 34 years, we found child CRF correlated with young- (r=0.30) and mid-adulthood (r=0.16) CRF.
The Influence of Dietary Counseling over 20 Years on Tracking of Non-HDL Cholesterol from Infancy to Young Adulthood.
THE JOURNAL OF PEDIATRICS - 13 Oct 2023
This 26-year study found that non-high-density lipoprotein cholesterol (non-HDL-C) levels tracked from infancy to young adulthood, suggesting early-life non-HDL-C could predict future levels. However, infancy-onset dietary counseling reduced the odds of maintaining at-risk non-HDL-C, highlighting the potential importance of early interventions in preventing cardiovascular risk associated with h...
Metabolic phenotyping of BMI to characterize cardiometabolic risk: evidence from large population-based cohorts.
NATURE COMMUNICATIONS - 07 Oct 2023
Obesity is a risk factor for type 2 diabetes and cardiovascular disease. However, a substantial proportion of patients with these conditions have a seemingly normal body mass index (BMI). Conversely, not all obese individuals present with metabolic disorders giving rise to the concept of "metabolically healthy obese". We use lipidomic-based models for BMI to calculate a metabolic BMI score (mBM...
Enhancing the Detection and Care of Heterozygous Familial Hypercholesterolemia in Primary Care: Cost-Effectiveness and Return on Investment.
CIRCULATION. GENOMIC AND PRECISION MEDICINE - 12 Apr 2023
Heterozygous familial hypercholesterolemia (HeFH) is under-detected and undertreated. A general practitioner-led screening and care program for HeFH effectively identified and managed patients with HeFH. We evaluated the cost-effectiveness and the return on investment of an enhanced-care strategy for HeFH in primary care in Australia.We developed a multistate Markov model to estimate the outcom...
Phenotyping the hypertensive heart.
EUROPEAN HEART JOURNAL - 11 Oct 2022
Arterial hypertension remains the most frequent cardiovascular (CV) risk factor, and is responsible for a huge global burden of disease. Echocardiography is the first-line imaging method for the evaluation of cardiac damage in hypertensive patients and novel techniques, such as 2D and D speckle tracking and myocardial work, provide insight in subclinical left ventricular (LV) impairment that wo...
Adverse Impact of Peri-Procedural Stroke in Patients Who Underwent Percutaneous Coronary Intervention.
THE AMERICAN JOURNAL OF CARDIOLOGY - 15 Oct 2022
Peri-procedural stroke (PPS) is an important complication in patients who underwent percutaneous coronary intervention (PCI). The extent to which PPS impacts mortality and outcomes remains to be defined. Consecutive patients who underwent PCI enrolled in the Victorian Cardiac Outcomes Registry (2014 to 2018) were categorized into PPS and no PPS groups. The primary outcome was 30-day major adver...
Prognosis and Personalized In Silico Prediction of Treatment Efficacy in Cardiovascular and Chronic Kidney Disease: A Proof-of-Concept Study.
PHARMACEUTICALS (BASEL, SWITZERLAND) - 14 Sep 2023
(1) Background: Kidney and cardiovascular diseases are responsible for a large fraction of population morbidity and mortality. Early, targeted, personalized intervention represents the ideal approach to cope with this challenge. Proteomic/peptidomic changes are largely responsible for the onset and progression of these diseases and should hold information about the optimal means of treatment an...
Study protocol for development and validation of a single tool to assess risks of stroke, diabetes mellitus, myocardial infarction and dementia: DemNCD-Risk.
BMJ OPEN - 22 Sep 2023
Current efforts to reduce dementia focus on prevention and risk reduction by targeting modifiable risk factors. As dementia and cardiometabolic non-communicable diseases (NCDs) share risk factors, a single risk-estimating tool for dementia and multiple NCDs could be cost-effective and facilitate concurrent assessments as compared with a conventional single approach. The aim of this study is to ...
Impact of Mood Disorder History and Bone Health on Cognitive Function Among Men Without Dementia.
JOURNAL OF ALZHEIMER'S DISEASE : JAD - 25 Sep 2023
Poor cognitive function, a major disabling condition of older age, is often considered a prodromal feature of dementia. High mortality and the lack of a cure for dementia have necessitated a focus on the identification of potentially modifiable risk factors. Mental and physical health conditions such as mood disorders and bone loss have been previously linked with poor cognition individually al...
Return to play after myocarditis: time to abandon the one-size-fits-all approach?
BRITISH JOURNAL OF SPORTS MEDICINE - 01 Oct 2023
The T1D Index: Implications of Initial Results, Data Limitations, and Future Development.
CURRENT DIABETES REPORTS - 01 Oct 2023
Current global information on incidence, prevalence, and mortality of type 1 diabetes (T1D) is limited, particularly in low- and middle-income countries. To address this gap in evidence, JDRF, Life for a Child, International Society for Pediatric and Adolescent Diabetes, and International Diabetes Federation have developed the T1D Index, which uses a Markov mathematical model, and machine learn...
Clinimetrics: Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-Fatigue).
JOURNAL OF PHYSIOTHERAPY - 01 Oct 2023
A two-point strategy to clarify prognosis in >80 year olds experiencing out of hospital cardiac arrest.
RESUSCITATION - 01 Oct 2023
The global population is aging, with the number of ≥80-year-olds projected to triple over the next 30 years. Rates of out-of-hospital cardiac arrest (OHCA) are also increasing within this age group.The Victorian Ambulance Cardiac Arrest Registry was utilised to identify OHCAs in patients aged ≥80 years between 2002-2021. Predictors of survival to discharge were defined and a prognostic score de...
Global Effect of Modifiable Risk Factors on Cardiovascular Disease and Mortality.
THE NEW ENGLAND JOURNAL OF MEDICINE - 05 Oct 2023
Five modifiable risk factors are associated with cardiovascular disease and death from any cause. Studies using individual-level data to evaluate the regional and sex-specific prevalence of the risk factors and their effect on these outcomes are lacking.We pooled and harmonized individual-level data from 112 cohort studies conducted in 34 countries and 8 geographic regions participating in the ...
