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Genomic Drivers of Coronary Artery Disease and Risk of Future Outcomes After Coronary Angiography.
JAMA Netw Open
January 2025
Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Importance: Disease characteristics of genetically mediated coronary artery disease (CAD) on coronary angiography and the association of genomic risk with outcomes after coronary angiography are not well understood.
Objective: To assess the angiographic characteristics and risk of post-coronary angiography outcomes of patients with genomic drivers of CAD: familial hypercholesterolemia (FH), high polygenic risk score (PRS), and clonal hematopoiesis of indeterminate potential (CHIP).
Design, Setting, And Participants: A retrospective cohort study of 3518 Mass General Brigham Biobank participants with genomic information who underwent coronary angiography was conducted between July 18, 2000, and August 1, 2023.
Exploring the therapeutic potential of precision medicine in rare genetic obesity disorders: a scientific perspective.
Front Nutr
December 2024
Faculty of Medicine, Diabetes Center, University of Geneva, Geneva, Switzerland.
The prevalence of obesity is increasing worldwide, affecting both children and adults. This obesity epidemic is mostly driven by an increase in energy intake (abundance of highly palatable energy-dense food and drinks) and to a lesser degree a decrease in energy expenditure (sedentary lifestyle). A small proportion of individuals with obesity are affected by genetic forms of obesity, which often relate to mutations in the leptin-melanocortin pathway or are part of syndromes such as the Bardet-Biedl syndrome.
View Article and Find Full Text PDFParadoxical attenuation of early amyloid-induced cognitive impairment and synaptic plasticity in an aged APP/Tau bigenic rat model.
Acta Neuropathol Commun
December 2024
Department of Pharmacology & Therapeutics, McGill University, McIntyre Medical Building, 3655 Promenade Sir William Osler Room 1210, Montreal, H3G 1Y6, Canada.
Article Synopsis
- The study investigates how the combination of amyloid beta and tau pathologies affects neurodegeneration in Alzheimer's disease using a new transgenic rat model (McGill-R-APPxhTau).
- Initial findings suggest that early exposure to both amyloid and phosphorylated tau can temporarily improve synaptic plasticity and cognitive functions, contrasting with the negative effects observed in models with only one of these pathologies.
- However, as the disease progresses, the combined presence of amyloid and tau leads to severe cognitive decline, increased neuroinflammation, and neuronal loss, indicating that the protective effects of tau are short-lived.
Genetics, Fitness, and Left Ventricular Remodelling: The Current State of Play.
Can J Cardiol
December 2024
Heart, Exercise and Research Trials, St Vincent's Institute of Medical Research, Fitzroy, Victoria, Australia; Cardiology Department, St Vincent's Hospital Melbourne, Fitzroy, Victoria, Australia; University of Melbourne, Parkville, Victoria, Australia; Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia. Electronic address:
Cardiorespiratory fitness (CRF) exists on a spectrum and is driven by a constellation of factors, including genetic and environmental differences. This results in wide interindividual variation in baseline CRF and the ability to improve CRF with regular endurance exercise training. As opposed to monogenic conditions, CRF is described as a complex genetic trait as it is believed to be influenced by multiple common genetic variants in addition to exogenous factors.
View Article and Find Full Text PDFA comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.
Hum Reprod Open
November 2024
Departamento de Genética e Instituto de Biotecnología, Centro de Investigación Biomédica (CIBM), Universidad de Granada, Granada, Spain.
Study Question: Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?
Summary Answer: Our findings revealed a significant association between SPGF and the gene and identified three novel genes (, , and ) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.
What Is Known Already: SPGF is a major cause of male infertility, often with an unknown aetiology. SPGF can be due to either multifactorial causes, including both common genetic variants in multiple genes and environmental factors, or highly damaging rare variants.
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