Results 161 to 170 of about 2,805,831 (274)
The burden quantitative trait locus (bQTL) analysis integrates epidemiological data from GBD study with genotype of 2 621 978 SNPs from 2414 individuals in 1000 Genomes Project across 20 countries. rs7633471 shows the strongest effect that each increase in centi‐allele frequency of the allele C associated with 10.00 decrease of age‐standardized ...
Chen Sun +27 more
wiley +1 more source
In Silico Gene Prioritization Highlights the Significance of Bone Morphogenetic Protein 4 (BMP4) Promoter Methylation across All Methylation Clusters in Colorectal Cancer. [PDF]
Jevšinek Skok D, Hauptman N.
europepmc +1 more source
This study reveals a copper‐driven mechanism of COPD acute exacerbations mediated by the TNF‐α/ATP7A axis. TNF‐α suppresses the copper transporter ATP7A via competitive NF‐κB/CREB1/CBP signaling, resulting in intracellular copper accumulation, mitochondrial oxidative stress, and epithelial barrier disruption.
Xinru Xiao +7 more
wiley +1 more source
A novel candidate disease gene prioritization method using deep graph convolutional networks and semi-supervised learning. [PDF]
Azadifar S, Ahmadi A.
europepmc +1 more source
ABSTRACT The LRRK2 G2019S mutation, a Parkinson's disease–linked variant, has been associated with depression‐like phenotypes, but mechanisms remain unclear. We chart age‐dependent behavioral changes and astrocyte reactivity in G2019S mice and define a pathway connecting LRRK2 to TFEB/GDNF signaling, cellular energetics, and inflammation.
Longping Yao +5 more
wiley +1 more source
A Bayesian framework to integrate multi-level genome-scale data for Autism risk gene prioritization. [PDF]
Ji Y +5 more
europepmc +1 more source
Longitudinal Morphomolecular Monitoring of Head and Neck Carcinogenesis
A miniaturized endoscopic probe that integrates Raman spectroscopy and optical coherence tomography, enabling simultaneous molecular and structural imaging of living tissue, was developed. Applied longitudinally in a mouse model of head and neck cancer, the system tracks disease progression from precancerous lesions to invasive cancer.
Jianrong Qiu +7 more
wiley +1 more source
Integrating multi-omics data through deep learning with applications to autism risk gene prioritization. [PDF]
Han S, Wang D, Sheng W, Chu N.
europepmc +1 more source
. ABSTRACT Neuroinflammation driven by microglial activation is a defining feature of Alzheimer's disease (AD), yet the molecular mechanisms sustaining this proinflammatory state remain unclear. Here, we identify the deubiquitinase OTUD7B as a critical regulator of microglial activation and AD pathology.
Luyao Li +15 more
wiley +1 more source
CADA: phenotype-driven gene prioritization based on a case-enriched knowledge graph. [PDF]
Peng C +19 more
europepmc +1 more source

