Results 41 to 50 of about 41,823,825 (180)

Association of Interleukin 6 Receptor Variant With Cardiovascular Disease Effects of Interleukin 6 Receptor Blocking Therapy A Phenome-Wide Association Study

open access: yes, 2018
This phenome-wide association study assesses clinical associations between interleukin 6 receptor ( IL6R ) single-nucleotide polyporphisms and known IL6R drug effects and whether large biobanks and genetics can be used to assess potential beneficial and ...
Huang, Jie   +20 more
core   +1 more source

Phenome-wide analysis of genome-wide polygenic scores [PDF]

open access: yes, 2015
Genome-wide polygenic scores (GPS), which aggregate the effects of thousands of DNA variants from genome-wide association studies (GWAS), have the potential to make genetic predictions for individuals.
Dale, P. S.   +39 more
core   +1 more source

Supplemental material for Phenome-wide association study identifies dsDNA as a driver of major organ involvement in systemic lupus erythematosus

open access: yes, 2018
Supplemental Material for Phenome-wide association study identifies dsDNA as a driver of major organ involvement in systemic lupus erythematosus by A. Barnado, R.J. Carroll, C. Casey, L. Wheless, J.C. Denny and L.J.
J.C. Denny (6012626)   +5 more
core   +1 more source

Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts

open access: yesFrontiers in Genetics, 2014
Objective: We report the first pediatric specific Phenome-Wide Association Study (PheWAS) using electronic medical records (EMRs). Given the early success of PheWAS in adult populations, we investigated the feasibility of this approach in pediatric ...
Bahram eNamjou   +23 more
doaj   +1 more source

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

open access: yesMolecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche   +10 more
wiley   +1 more source

Dose‐dependent hepatotoxicity of hydrogen peroxide in HepG2 cells and its modulation by CYP450 induction

open access: yesFEBS Open Bio, EarlyView.
NMR metabolomics revealed concentration‐dependent metabolic perturbations in HepG2 cells exposed to H2O2. Rifampicin pretreatment enhanced metabolic competence, attenuated toxin‐induced alterations and produced metabolite profiles more consistent with human liver physiology, supporting the use of CYP450‐induced HepG2 models for improved in vitro ...
Maren Jinks   +4 more
wiley   +1 more source

A multi-ancestry genome-wide association study of dry eye disease and systemic comorbidities

open access: yesEBioMedicine
Summary: Background: Dry eye disease (DED) affects up to 25% of the adult population, with chronic symptoms of pain and dryness often negatively impacting quality of life. Twin studies indicate a substantial heritability.
Bryan R. Gorman   +35 more
doaj   +1 more source

Charting Endocrine Progenitors Across Species and Organs

open access: yesAdvanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing   +21 more
wiley   +1 more source

A Phenome Wide Association Study of Multiple Sclerosis and COmorbidities [PDF]

open access: yes, 2017
Genome wide association studies (GWAS) have identified relationships between many different genes and diseases. GWAS studies scan whole genomes of many individuals and then associate genetic variants with diseases that the individuals have.
Davis, Mary, Frodsham, Scott
core  

Exploring the Pleiotropic Genetic Architecture of Substance Use Disorders: Findings From Phenome-Wide Association Studies

open access: yesBiological Psychiatry Global Open Science
Complex and common, substance use disorders (SUDs) are heterogeneous in presentation and difficult to treat. Moreover, SUDs are frequently comorbid with other psychiatric disorders and medical issues. While it is known that SUDs are moderately heritable,
Emily E. Hartwell, Rachel L. Kember
doaj   +1 more source

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