Results 71 to 80 of about 499,359 (306)

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

open access: yesMolecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena   +15 more
wiley   +1 more source

Impact of a Single Nucleotide Polymorphism on the 3D Protein Structure and Ubiquitination Activity of E3 Ubiquitin Ligase Arkadia

open access: yesFrontiers in Molecular Biosciences, 2022
Single nucleotide polymorphisms (SNPs) are genetic variations which can play a vital role in the study of human health. SNP studies are often used to identify point mutations that are associated with diseases.
Maria Birkou   +7 more
doaj   +1 more source

SNP2TFBS – a database of regulatory SNPs affecting predicted transcription factor binding site affinity

open access: yesNucleic Acids Res., 2016
SNP2TFBS is a computational resource intended to support researchers investigating the molecular mechanisms underlying regulatory variation in the human genome.
Sunil Kumar, G. Ambrosini, P. Bucher
semanticscholar   +1 more source

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open access: yes, 2021
Aims. The determination of the contribution of precursor populations into the genetic structure of modern inbreds accoding to the results of DNA single nucleotide polymorphism analysis. Methods. SNP-genotyping of 5 maize inbreds with GoldenGate test, Illumina VeraCode, Sentrix array matrice, BDI-III-pannel of 384 SNP-markers, computer analysis by ...
  +6 more sources

Clinical performance of the urine‐based TERT promoter AbsoluteQ Digital PCR for non‐invasive detection of bladder cancer

open access: yesMolecular Oncology, EarlyView.
A urine‐based digital PCR assay targeting two hotspot TERT promoter variants detected bladder cancer with high sensitivity and no false positives in this case–control cohort. The streamlined AbsoluteQ workflow outperformed Sanger sequencing and supports non‐invasive molecular testing for bladder cancer detection.
Anna Nykel   +12 more
wiley   +1 more source

Loss of proton‐sensing TDAG8 increases tumor progression in mouse models of colon cancer

open access: yesMolecular Oncology, EarlyView.
Loss of the pH‐sensing receptor TDAG8 accelerates colorectal cancer progression in mice. Animals lacking TDAG8 expression had increased tumor growth, DNA damage, and recruitment of tumor‐associated immune cells, including macrophages, neutrophils, and monocytes.
Ermanno Malagola   +11 more
wiley   +1 more source

Human platelet antigen polymorphisms and the risk of chronic Chagas disease cardiomyopathy

open access: yesPlatelets, 2020
Human platelet antigen (HPA) polymorphisms are considered to be a risk factor for cardiac and vascular diseases, but the role of HPA in chronic Chagas disease cardiomyopathy (CCC) is not available.
Deborah Elzita do Carmo Corrêa   +8 more
doaj   +1 more source

Genome-partitioning of genetic variation for complex traits using common SNPs

open access: yesNature Genetics, 2011
We estimate and partition genetic variation for height, body mass index (BMI), von Willebrand factor and QT interval (QTi) using 586,898 SNPs genotyped on 11,586 unrelated individuals. We estimate that ∼45%, ∼17%, ∼25% and ∼21% of the variance in height,
Jian Yang   +24 more
semanticscholar   +1 more source

Spatial and single‐nuclei transcriptomics reveals idiosyncratic and generic patterns in papillary and anaplastic thyroid cancers

open access: yesMolecular Oncology, EarlyView.
Matched spatial transcriptomics and single‐nuclei RNA‐seq were generated for anaplastic and BRAFV600E papillary thyroid cancers revealing generic and tumor‐specific states occurring in cancer cells and in the tumor microenvironment. In this context, cancer dedifferentiation mirrored organoid maturation through ordered thyroid marker gain/loss ...
Adrien Tourneur   +11 more
wiley   +1 more source

Association of Candidate Single Nucleotide Polymorphisms Related to Candidate Genes in Patients With Schizophrenia

open access: yesBasic and Clinical Neuroscience, 2020
Introduction: Schizophrenia is a chronic heterogenic neurodevelopment disorder. Many genes interfere in the development of SCZ. All four genes, NrCAM, PRODH, ANK3, and ANKK1, which were evaluated in this study, were previously reported to be associated ...
Seyedeh Sara Karimian   +3 more
doaj  

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