Results 81 to 90 of about 593,238 (360)

On Combining Data From Genome-Wide Association Studies to Discover Disease-Associated SNPs [PDF]

open access: yesStatistical Science 2009, Vol. 24, No. 4, 547-560, 2010
Combining data from several case-control genome-wide association (GWA) studies can yield greater efficiency for detecting associations of disease with single nucleotide polymorphisms (SNPs) than separate analyses of the component studies. We compared several procedures to combine GWA study data both in terms of the power to detect a disease-associated ...
arxiv   +1 more source

Multiple breast cancer risk variants are associated with differential transcript isoform expression in tumors. [PDF]

open access: yes, 2015
Genome-wide association studies have identified over 70 single-nucleotide polymorphisms (SNPs) associated with breast cancer. A subset of these SNPs are associated with quantitative expression of nearby genes, but the functional effects of the majority ...
Brenner, Steven E   +8 more
core   +2 more sources

The subcellular distribution of phosphorylated Y‐box‐binding protein‐1 at S102 in colorectal cancer patients, stratified by KRAS mutational status and clinicopathological features

open access: yesMolecular Oncology, EarlyView.
This study identifies nuclear YB‐1 S102 phosphorylation as a marker associated with KRAS and FBXW7 mutations in colorectal cancer. Mutated KRAS correlates specifically with nuclear, not cytoplasmic, S102 YB‐1. These findings provide the first ex vivo evidence of this link in CRC and suggest future studies should assess the prognostic and therapeutic ...
Konstanze Lettau   +9 more
wiley   +1 more source

Identification of SNPs in TG and EDG1 genes and their relationships with carcass traits in Korean cattle (Hanwoo) [PDF]

open access: yes, 2012
Thyroglobulin (TG) gene was known to be regulated fat cell growth and differentiation and the endothelial differentiation sphingolipid G-protein-coupled receptor 1 (EDG1) gene involves blood vessel formation and known to be affecting carcass traits ...
Cahyadi, Muhammad   +4 more
core  

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini   +24 more
wiley   +1 more source

Psychotic Episode and Schizophrenia in Slovakian Narcolepsy Database

open access: yesBrain Sciences, 2022
Narcolepsy type 1 (NT1), a central disorder of hypersomnolence, is associated with mood, anxiety or hyperactivity mental disorders. Association with psychotic episode or schizophrenia is rare and could be the source of diagnostic and therapeutic ...
Eva Feketeová   +6 more
doaj   +1 more source

Predicting Pathogenicity Of nsSNPs Associated With Rb1 -- An In Silico Approach [PDF]

open access: yesarXiv, 2023
Single nucleotide polymorphisms (SNPs) are variations at specific locations in DNA. Sequence responsible for marking genes associated with diseases or tracking inherited diseases within The family. These variations in the Rb1 gene can cause Retinoblastoma and cancer in the retina Of one eye or both, Osteosarcoma, Melanoma, Leukemias, Lungs, and Breast ...
arxiv  

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang   +4 more
wiley   +1 more source

Serum cholesterol is a significant and independent mortality predictor in liver cirrhosis patients

open access: yesAnnals of Hepatology, 2013
Background and Aim. Accurate assessment of cirrhotic patient’s prognosis is essential for decisions regarding the course of treatment. Therefore we aimed to confirm and quantify the predictive value of serum cholesterol and serum triglycerides in liver ...
Martin Janičko   +3 more
doaj  

Correction: Štofilová et al. Probiotic-Based Intervention in the Treatment of Ulcerative Colitis: Conventional and New Approaches. Biomedicines 2022, 10, 2236

open access: yesBiomedicines
The authors would like to add the following clarification regarding the clinical trials evaluating the probiotic product VSL#3 cited in the published paper [...]
Jana Štofilová   +5 more
doaj   +1 more source

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