Results 61 to 70 of about 3,687 (173)
NETMAGE: a humaN-disEase phenoType MAp GEnerator for the Visualization of PheWAS [PDF]
, 2020 Abstract Summary Given genetic associations from a PheWAS, a disease-disease network can be constructed where nodes represent phenotypes and edges represent shared genetic associations between phenotypes. To improve the accessibility of the visualization of shared genetic components across phenotypes,
Vivek Sriram +7 more
openaire +1 more source
Association between borderline dysnatremia and mortality insight into a new data mining approach
BMC Medical Informatics and Decision Making, 2017 Background Even small variations of serum sodium concentration may be associated with mortality. Our objective was to confirm the impact of borderline dysnatremia for patients admitted to hospital on in-hospital mortality using real life care data from ...
Yannick Girardeau +3 more
doaj +1 more source
Pharmacoepidemiology and Drug Safety, Volume 35, Issue 5, May 2026.ABSTRACT Purpose Pharmacoepidemiology and population health studies using electronic health care records (EHRs) must define study variables through available electronic data. These variables are operationalized through phenotypes, which are a defined set of criteria used to identify specific traits or medical conditions.
Sima Mohammadi +3 more
wiley +1 more source
The Risk of Mercury Exposure to the People Consuming Fish from Lake Phewa, Nepal [PDF]
International Journal of Environmental Research and Public Health, 2014 The risk of mercury exposure through consumption of fish from Lake Phewa, Nepal was investigated. A total of 170 people were surveyed to know their fish consumption levels. The weekly mercury (Hg) intake in the form of methylmercury (MeHg) through fish was calculated by using the data on average MeHg concentrations in fish, the average consumption of ...
Devna Thapa +3 more
openaire +2 more sources
Aging Cell, Volume 25, Issue 5, May 2026.During kidney aging, loss of the MICOS complex drives cristae disorganization, impairs oxidative capacity, and alters mitochondrial dynamics. MICOS disruption elevates mitochondrial ROS and disrupts calcium homeostasis, linking mitochondrial structural remodeling to metabolic dysfunction in aging kidney tissue.
Prasanna Katti +48 more
wiley +1 more source
Neuroimaging PheWAS and molecular phenotyping implicate PSMC3 in Alzheimer’s Disease
Alzheimer's & DementiaAbstract INTRODUCTION Neuroimaging genetics have advanced Alzheimer’s disease (AD) research, yet frameworks mechanistically connecting genes to neurological outcomes via functional genomics are needed to elucidate genetic associations.
Xavier Bledsoe +10 more
openaire +3 more sources
Assessment of Residents' Understanding of Potential Ecosystem Services of Phewa Watershed
Journal of Forest and Natural Resource Management, 2020 Phewa watershed, the second largest natural lake system in Nepal, is considered vital for the well being and economy at local, provincial and national level. Phewa watershed offers multiple benefits to the downstream dwellers involved in tourism, hotel, boating, fishing, irrigation, hydropower, etc.
Shivaraj Thapa +4 more
openaire +2 more sources
Annals of Neurology, Volume 99, Issue 4, Page 1030-1045, April 2026.Objective Plasma biomarkers of Alzheimer's disease (AD) pathology are frequently tested in specialized research settings, which limits the generalizability of findings. Using electronic health records and banked plasma, we evaluated plasma biomarkers—phosphorylated tau 217 (p‐tau217), β‐amyloid 1–42/1–40 (Aβ42/Aβ40) and p‐tau217/Aβ42—in a real‐world ...
Katheryn A.Q. Cousins +12 more
wiley +1 more source
CoPheScan: phenome-wide association studies accounting for linkage disequilibrium
Nature CommunicationsPhenome-wide association studies (PheWAS) facilitate the discovery of associations between a single genetic variant with multiple phenotypes. For variants which impact a specific protein, this can help identify additional therapeutic indications or on ...
Ichcha Manipur +6 more
doaj +1 more source
Brain and Behavior, Volume 16, Issue 4, April 2026.Multi‐omics Mendelian randomization reveals causal roles of four autophagy‐related genes (FNBP1, IDUA, C9orf72, USP35) in ALS risk, with FNBP1 and USP35 increasing risk and IDUA and C9orf72 protective, shedding light on autophagy‐mediated mechanisms and offering early evidence of novel therapeutic targets for ALS.
Zheng Jiang +9 more
wiley +1 more source