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Genetic Predisposition to Low-Density Lipoprotein Cholesterol and Incident Type 2 Diabetes.
JAMA Cardiol
January 2025
Program of Medical and Population Genetics, Broad Institute of MIT (Massachusetts Institute of Technology) and Harvard, Cambridge, Massachusetts.
Importance: Treatment to lower high levels of low-density lipoprotein cholesterol (LDL-C) reduces incident coronary artery disease (CAD) risk but modestly increases the risk for incident type 2 diabetes (T2D). The extent to which genetic factors across the cholesterol spectrum are associated with incident T2D is not well understood.
Objective: To investigate the association of genetic predisposition to increased LDL-C levels with incident T2D risk.
Testing the kinetic tradeoff between bicarbonate versus phosphoenolpyruvate affinity and glucose-6 phosphate response of phosphoenolpyruvate carboxylase from two C grasses.
Photosynth Res
January 2025
School of Biological Sciences, Washington State University, 406 Abelson Hall, Pullman, WA, 99164, USA.
Phosphoenolpyruvate (PEP) carboxylase (PEPC) has an anaplerotic role in central plant metabolism but also initiates the carbon concentrating mechanism during C photosynthesis. The C PEPC has different binding affinities (K) for PEP (K) and HCO (K), and allosteric regulation by glucose-6-phosphate (G6-P) compared to non-photosynthetic isoforms. These differences are linked to specific changes in amino acids within PEPC.
View Article and Find Full Text PDFComparing the Introduction and Implementation of Noninvasive Prenatal Testing (NIPT) in Japan, the Netherlands, and the United States: An Integrative Review.
Prenat Diagn
January 2025
Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Previous studies suggest that NIPT's implementation differed widely across countries but offer limited insight into what shaped these differences. To address this gap, we conducted an in-depth analysis of how NIPT was incorporated into prenatal care in the US, the Netherlands, and Japan-countries with similar economic status-to identify actionable lessons. We conducted an integrative literature review on the process of introducing and implementing NIPT, stakeholders' roles, documented considerations in the decision to introduce NIPT, implementation choices, and NIPT uptake.
View Article and Find Full Text PDFGeneral Kernel Machine Methods for Multi-Omics Integration and Genome-Wide Association Testing With Related Individuals.
Genet Epidemiol
January 2025
Department of Biostatistics, University of Washington, Seattle, Washington, USA.
Integrating multi-omics data may help researchers understand the genetic underpinnings of complex traits and diseases. However, the best ways to integrate multi-omics data and use them to address pressing scientific questions remain a challenge. One important and topical problem is how to assess the aggregate effect of multiple genomic data types (e.
View Article and Find Full Text PDFPhenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis.
J Clin Endocrinol Metab
January 2025
Marmara University School of Medicine, Department of Pediatric Endocrinology, 34854, Istanbul, Turkey.
Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.
Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9.
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