EZH2 Single Nucleotide Variants (SNVs): Diagnostic and Prognostic Role in 10 Solid Tumor Types
Epigenomes, 2017 The enhancer of zeste homolog 2 (EZH2) gene encodes a histone methyltransferase that is a catalytic subunit of the Polycomb repressive complex 2 (PRC2) group of proteins that act to repress gene expression.
Elisa Paolicchi +4 more
doaj +1 more source
Influence of the MDM2 single nucleotide polymorphism SNP309 on tumour development in BRCA1 mutation carriers [PDF]
, 2006 BackgroundThe MDM2 gene encodes a negative regulator of the p53 tumour suppressor protein. A single nucleotide polymorphism (SNP) in the MDM2 promoter (a T to G exchange at nucleotide 309) has been reported to produce accelerated tumour formation in ...
Johnson, Peter W. +17 more
core +2 more sources
The Single-Nucleotide Polymorphism (SNP) Validity to Detect Omicron Variants
Advances in Virology, 2023 Introduction. Mutation of SARS-CoV-2 has generated several variants of concern (VOC) which spread promptly worldwide. These emerging variants affected global strategies to overcome COVID-19. Variants of SARS-CoV-2 are determined by the whole genome sequencing (WGS) assay, which is time-consuming, with limited availability (only in several laboratories).
Lia Gardenia Partakusuma +8 more
openaire +3 more sources
A novel DRD2 single-nucleotide polymorphism associated with schizophrenia predicts age of onset : HapMap tag-single-nucleotide polymorphism analysis [PDF]
, 2012 Background: Dopamine D2 receptor (DRD2) is thought to be critical in regulating the dopaminergic pathway in the brain which is known to be important in the aetiology of schizophrenia.
Swagell, Christopher D. +11 more
core +1 more source
High-Resolution Genome-Wide Single Nucleotide Polymorphism Mapping in Acute Myeloid Leukaemia [PDF]
, 2008 PhDInvestigation of the genetics of acute myeloid leukaemia (AML) has revealed the underlying basis of the disease and led to targets for therapy. High-resolution single nucleotide polymorphism (SNP) arrays detected regions of loss of heterozygosity ...
Raghavan, Manoj
core +4 more sources
Single nucleotide variants in microRNA biosynthesis genes in Mexican individuals
Frontiers in Genetics, 2023 Background: MicroRNAs (miRNAs) are important regulators in a variety of biological processes, and their dysregulation is associated with multiple human diseases. Single nucleotide variants (SNVs) in genes involved in the processing of microRNAs may alter miRNA regulation and could present high allele heterogeneity in populations from different ethnic ...
Jesús Juárez-Luis +7 more
openaire +3 more sources
Медицинский вестник Юга России, 2023 Objective: to investigate single nucleotide polymorphisms in IFNγ gene variant rs2430561 and in NKG2D gene variant rs2617160 as potential risk factors for mother-to-child viral transmission among HIV/HCV-coinfected women.Materials and methods: 65 mother ...
A. A. Khamatova +2 more
doaj +1 more source
Investigations into the molecular effects of single nucleotide polymorphism [PDF]
, 2000 Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D. +3 more
core +1 more source
SNV-FEAST: microbial source tracking with single nucleotide variants
Genome Biology, 2022 AbstractElucidating the sources of a microbiome can provide insight into the ecological dynamics responsible for the formation of these communities. Source tracking approaches to date leverage species abundance information; however, single nucleotide variants (SNVs) may be more informative because of their high specificity to certain sources.
Leah Briscoe +2 more
openaire +5 more sources
Single nucleotide variant filtering pipeline.
, 2015 Numbers in parentheses refer to filtering steps described in the Methods. IA = intracranial aneurysmSingle nucleotide variant filtering pipeline.
Laura Sauerbeck (78528) +19 more
core +1 more source