DNA Copy Number Variations as Markers of Mutagenic Impact. [PDF]
Int J Mol Sci, 2019 DNA copy number variation (CNV) occurs due to deletion or duplication of DNA segments resulting in a different number of copies of a specific DNA-stretch on homologous chromosomes.
Hovhannisyan G +3 more
europepmc +7 more sources
Cell-free DNA copy number variations predict efficacy of immune checkpoint inhibitor-based therapy in hepatobiliary cancers [PDF]
Journal for ImmunoTherapy of Cancer, 2021 Background This study was designed to screen potential biomarkers in plasma cell-free DNA (cfDNA) for predicting the clinical outcome of immune checkpoint inhibitor (ICI)-based therapy in advanced hepatobiliary cancers.Methods Three cohorts including 187
Ying Hu +19 more
doaj +3 more sources
Somatic mosaicism for copy-neutral loss of heterozygosity and DNA copy number variations in the human genome. [PDF]
BMC Genomics, 2015 BackgroundSomatic mosaicism denotes the presence of genetically distinct populations of somatic cells in one individual who has developed from a single fertilised oocyte. Mosaicism may result from a mutation that occurs during postzygotic development and
Žilina O +5 more
europepmc +4 more sources
DNA copy number variations in children with vesicoureteral reflux and urinary tract infections. [PDF]
PLoS ONE, 2019 Vesicoureteral reflux (VUR) is a complex, heritable disorder. Genome-wide linkage analyses of families affected by VUR have revealed multiple genomic loci linked to VUR.
Dong Liang +9 more
doaj +3 more sources
DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders [PDF]
Italian Journal of PediatricsBackground This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.
Dandan Wu +9 more
doaj +4 more sources
Cell-free DNA copy number variations in plasma from colorectal cancer patients. [PDF]
Mol Oncol, 2017 To evaluate the clinical utility of cell‐free DNA (cfDNA), we performed whole‐genome sequencing to systematically examine plasma cfDNA copy number variations (CNVs) in a cohort of patients with colorectal cancer (CRC, n = 80), polyps (n = 20), and ...
Li J +8 more
europepmc +2 more sources
Perspective: DNA Copy Number Variations in Cardiovascular Diseases. [PDF]
Epigenet Insights, 2018 Human genome contains many variations, often called mutations, which are difficult to detect and have remained a challenge for years. A substantial part of the genome encompasses repeats and when such repeats are in the coding region they may lead to ...
Vijay A, Garg I, Ashraf MZ.
europepmc +2 more sources
Integrated Genome-Wide Analysis of Gene Expression and DNA Copy Number Variations Highlights Stem Cell-Related Pathways in Small Cell Esophageal Carcinoma. [PDF]
Stem Cells Int, 2018 Purpose/Objectives. Primary small cell esophageal carcinoma (SCEC) represents a rare and aggressive malignancy without any prospective clinical trial or established treatment strategy at present.
Liu D +9 more
europepmc +2 more sources
Acquirement of DNA copy number variations in non-small cell lung cancer metastasis to the brain. [PDF]
Oncol Rep, 2015 Brain metastasis is a major complication of non-small cell lung cancer (NSCLC) and leads to most of the mortality of this disease. However, the biological mechanisms and molecular features in brain metastasis of NSCLC are poorly understood.
Li F, Sun L, Zhang S.
europepmc +2 more sources
Telomere Length and Mitochondrial DNA Copy Number Variations in Patients with Obesity: Effect of Diet-Induced Weight Loss-A Pilot Study. [PDF]
Nutrients, 2022 Cancello R +12 more
europepmc +3 more sources