Results 51 to 60 of about 6,040 (161)

Assessment of microplastic-sorbed contaminant bioavailability through analysis of biomarker gene expression in larval zebrafish [PDF]

open access: yes, 2017
publisher: Elsevier articletitle: Assessment of microplastic-sorbed contaminant bioavailability through analysis of biomarker gene expression in larval zebrafish journaltitle: Marine Pollution Bulletin articlelink: http://dx.doi.org/10.1016/j.marpolbul ...
Adil Bakir   +52 more
core   +3 more sources

A Systematic Review to Summarize and Critically Appraise Existing Phenotype Libraries Using Electronic Health Records

open access: yesPharmacoepidemiology 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

MR-pheWAS with stratification and interaction: Searching for the causal effects of smoking heaviness identified an effect on facial aging.

open access: yesPLoS Genetics, 2019
Mendelian randomization (MR) is an established approach to evaluate the effect of an exposure on an outcome. The gene-by-environment (GxE) study design can be used to determine whether the genetic instrument affects the outcome through pathways other ...
Louise A C Millard   +4 more
doaj   +1 more source

Electronic Health Records to Test Multimorbidity Influences to Plasma Biomarker Interpretation for Alzheimer's Disease

open access: yesAnnals 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

Phenome-wide association studies as a research tool for identifying new pathogenetic links

open access: yesКардиоваскулярная терапия и профилактика
The accumulation of biospecimens associated with large-scale clinical data (data from electronic medical records, epidemiological and other large-scale studies) has made it possible to conduct studies aimed at studying associations between genetic ...
N. A. Mashkina   +3 more
doaj   +1 more source

The Proteomics of N-terminal Methionine Cleavage [PDF]

open access: yes, 2006
Methionine aminopeptidase (MAP) is a ubiquitous, essential enzyme involved in protein N-terminal methionine excision. According to the generally accepted cleavage rules for MAP, this enzyme cleaves all proteins with small side chains on the residue in ...
Frottin, Frédéric   +6 more
core   +3 more sources

Integrative Multi‐Omics Mendelian Randomization Highlights Causal Autophagy‐Related Genes for Amyotrophic Lateral Sclerosis

open access: yesBrain 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

MR-PheWAS for the causal effects of serum magnesium on multiple disease outcomes in Caucasian descent

open access: yesiScience, 2021
Summary: Magnesium is integral to many physiological processes, whereas variations in its levels, even within the normal range, can have critical implications for health.
Longman Li   +12 more
doaj   +1 more source

Targeted massively parallel sequencing of autism spectrum disorder-associated genes in a case control cohort reveals rare loss-of-function risk variants [PDF]

open access: yes, 2015
BACKGROUND: Autism spectrum disorder (ASD) is highly heritable, yet genome-wide association studies (GWAS), copy number variation screens, and candidate gene association studies have found no single factor accounting for a large percentage of genetic ...
Anthony J. Griswold   +15 more
core   +1 more source

How data science and AI-based technologies impact genomics

open access: yesSingapore Medical Journal, 2023
Advancements in high-throughput sequencing have yielded vast amounts of genomic data, which are studied using genome-wide association study (GWAS)/phenome-wide association study (PheWAS) methods to identify associations between the genotype and phenotype.
Jing Lin, Kee Yuan Ngiam
doaj   +1 more source

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