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Refinement of a Published Gene-Physical Activity Interaction Impacting HDL-Cholesterol: Role of Sex and Lipoprotein Subfractions.
Genet Epidemiol
January 2025
Clinical and Translational Epidemiology Unit, Massachusetts General Hospital, Boston, Massachusetts, USA.
Large-scale gene-environment interaction (GxE) discovery efforts often involve analytical compromises for the sake of data harmonization and statistical power. Refinement of exposures, covariates, outcomes, and population subsets may be helpful to establish often-elusive replication and evaluate potential clinical utility. Here, we used additional datasets, an expanded set of statistical models, and interrogation of lipoprotein metabolism via nuclear magnetic resonance (NMR)-based lipoprotein subfractions to refine a previously discovered GxE modifying the relationship between physical activity (PA) and HDL-cholesterol (HDL-C).
View Article and Find Full Text PDFThe FEBS Journal in 2025: in all science, error precedes the truth.
FEBS J
January 2025
The FEBS Journal Editorial Office, Cambridge, UK.
The FEBS Journal publishes primary papers as well as reviews in the molecular life sciences relating to the molecules and mechanisms underpinning biological processes. Editor-in-Chief Seamus Martin shares some thoughts on the nature of conducting research, some highlights of the past year at the journal, and what is in store for 2025.
View Article and Find Full Text PDFInterpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3.
Mol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Inheritance of Imaging Parameters of Arrhythmic Risk in Mitral Valve Prolapse: A Pedigree Study.
Circ Cardiovasc Imaging
January 2025
Division of Cardiology, Department of Medicine, University of California, San Francisco (L.C., S.D., D.B., J.J.T., Q.F., L.T., A.H.R., R.J., S.H., H.H.H., Z.H.T., N.B.S., F.N.D.).
Background: A subset of patients with mitral valve prolapse (MVP), a highly heritable condition, experience sudden cardiac arrest (SCA) or sudden cardiac death (SCD). However, the inheritance of phenotypic imaging features of arrhythmic MVP remains unknown.
Methods: We recruited 23 MVP probands, including 9 with SCA/SCD and 14 with frequent/complex ventricular ectopy.
Vps4a Mediates a Unified Membrane Repair Machinery to Attenuate Ischemia/Reperfusion Injury.
Circ Res
January 2025
Center for Genetic Medicine, the Fourth Affiliated Hospital, Zhejiang University School of Medicine, Yiwu, China (X.H., J.Z., C.X., R.C., P.J., X.J., P.H.).
Background: Cardiac ischemia/reperfusion disrupts plasma membrane integrity and induces various types of programmed cell death. The ESCRT (endosomal sorting complex required for transport) proteins, particularly AAA-ATPase Vps4a (vacuolar protein sorting 4a), play an essential role in the surveillance of membrane integrity. However, the role of ESCRT proteins in the context of cardiac injury remains unclear.
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