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Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Background: The FunGen-xQTL project has significantly advanced genetics by developing and exploring novel quantitative trait loci (QTL) types in human brains, enriching our understanding of complex neurological disease etiology. We broadened the scope of epigenomic QTL analysis, integrating histone acetylation QTLs (haQTLs) and methylation QTLs (mQTLs) that affect multiple histone acetylation peaks or methylation CpG sites spatially. Additionally, we investigated a new category of splicing QTLs (sQTLs) implicated in nonsense-mediated decay (NMD).
View Article and Find Full Text PDFPower-Sustainable and Portable Electrochemical Sensing Platforms for Complex Outdoor Environment Applications.
ACS Appl Mater Interfaces
January 2025
School of Integrated Circuits and Electronics, Beijing Institute of Technology, Beijing 100081, China.
Portable sensor technologies are indispensable in personalized healthcare and environmental monitoring as they enable the continuous tracking of key analytes. Human sweat contains valuable physiological information, and previously developed noninvasive sweat-based sensors have effectively monitored single or multiple biomarkers. By successfully detecting biochemicals in sweat, portable sensors could also significantly broaden their application scope, encompassing non-biological fluids commonly encountered in daily life, such as mineral water.
View Article and Find Full Text PDFThe impact of common and rare genetic variants on bradyarrhythmia development.
Nat Genet
January 2025
Telemachus and Irene Demoulas Family Foundation Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA.
To broaden our understanding of bradyarrhythmias and conduction disease, we performed common variant genome-wide association analyses in up to 1.3 million individuals and rare variant burden testing in 460,000 individuals for sinus node dysfunction (SND), distal conduction disease (DCD) and pacemaker (PM) implantation. We identified 13, 31 and 21 common variant loci for SND, DCD and PM, respectively.
View Article and Find Full Text PDFG9a/GLP Modulators: Inhibitors to Degraders.
J Med Chem
January 2025
SANKEN, Osaka University, Mihogaoka, Ibaraki-shi, Osaka 567-0047, Japan.
Histone methylation, a crucial aspect of epigenetics, intricately involves specialized enzymes such as G9a, a histone methyltransferase (HMT) catalyzing the methylation of histone H3 lysine 9 (H3K9) and H3K27. Apart from histone modification, G9a regulates essential cellular processes such as deoxyribonucleic acid (DNA) replication, damage repair, and gene expression via modulating DNA methylation patterns. The dysregulation and overexpression of G9a are intricately linked to cancer initiation, progression, and metastasis, making it a compelling target for anticancer therapy.
View Article and Find Full Text PDFObjective: Empathy between doctors and patients is crucial in enhancing patient satisfaction with medical consultations. This study, grounded in empathy theory, employs natural language processing and machine learning algorithms to explore the factors influencing patient satisfaction in online healthcare services, particularly the impact of doctor-patient empathy.
Methods: Utilizing the three dimensions of the Jefferson Scale of Physician Empathy, seven variables were extracted from patient-doctor dialogs as independent variables, with patient satisfaction as the dependent variable.
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