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The Evaluation of Mass/DNA Copy Number of Mitochondria in Umbilical Cord Blood-derived Hematopoietic Stem Cells Cocultured with MSCs
Over recent decades, UCB has been widely used as an excellent alternative source of HSCs for treating many hematologic disorders. Recent studies...
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The role of mitochondrial DNA copy number in cardiometabolic disease: a bidirectional two-sample mendelian randomization study
BackgroundThis study used a bidirectional 2-sample Mendelian randomization study to investigate the potential causal links between mtDNA copy number...
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Mitochondria DNA copy number, mitochondria DNA total somatic deletions, Complex I activity, synapse number, and synaptic mitochondria number are altered in schizophrenia and bipolar disorder
Mitochondrial dysfunction is a neurobiological phenomenon implicated in the pathophysiology of schizophrenia and bipolar disorder that can...
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Association of mitochondrial DNA copy number with chronic kidney disease in older adults
BackgroundMitochondrial dysfunction in kidney cells has been implicated in the pathogenesis of chronic kidney disease (CKD). Estimation of...
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The diagnostic utility of DNA copy number analysis of core needle biopsies from soft tissue and bone tumors
Morphologic and immunohistochemical analysis of preoperative core needle biopsies (CNB) is important in the management of patients with soft tissue...
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HER2 copy number determination in breast cancer using the highly sensitive droplet digital PCR method
Human epidermal growth factor receptor 2 (HER)-positive breast cancer (BC) is characterized by an aggressive clinical course. In the case of HER2...
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Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients
BackgroundAnalysis of circulating free DNA (cfDNA) is a promising tool for personalized management of colorectal cancer (CRC) patients. Untargeted...
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The chromosomal characteristics of spontaneous abortion and its potential associated copy number variants and genes
PurposeThis study aimed to investigate the correlation between chromosomal abnormalities in spontaneous abortion with clinical features and seek copy...
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Chromosomal copy number amplification-driven Linc01711 contributes to gastric cancer progression through histone modification-mediated reprogramming of cholesterol metabolism
BackgroundChromosome gains or localized amplifications are frequently observed in human gastric cancer (GC) and are major causes of aberrant oncogene...
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Mitochondrial DNA Copy Number Variations in Gastrointestinal Tract Cancers: Potential Players
Alterations of mitochondria have been linked to several cancers. Also, the mitochondrial DNA copy number (mtDNA-CN) is altered in various cancers,...
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A model to predict a risk of allergic rhinitis based on mitochondrial DNA copy number
PurposeTo determine whether mitochondrial DNA copy number (mtDNA-CN) is associated with allergic rhinitis (AR), and further establish a nomogram...
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Starch intake, amylase gene copy number variation, plasma proteins, and risk of cardiovascular disease and mortality
BackgroundSalivary amylase, encoded by the AMY1 gene, initiate the digestion of starch. Whether starch intake or AMY1 copy number is related to...
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Depletion of NK6 Homeobox 3 (NKX6.3) causes gastric carcinogenesis through copy number alterations by inducing impairment of DNA replication and repair regulation
Genomic stability maintenance requires correct DNA replication, chromosome segregation, and DNA repair, while defects of these processes result in...
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RNAseqCNV: analysis of large-scale copy number variations from RNA-seq data
Transcriptome sequencing (RNA-seq) is widely used to detect gene rearrangements and quantitate gene expression in acute lymphoblastic leukemia (ALL),...
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Exploring the prognostic significance of arm-level copy number alterations in triple-negative breast cancer
Somatic copy number alterations (SCNAs) are prevalent in cancer and play a significant role in both tumorigenesis and therapeutic resistance. While...
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Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs)
A range of rare mutations involving micro-deletion or -duplication of genetic material (copy number variants (CNVs)) have been associated with high...
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Recurrent atypical teratoid/rhabdoid tumors (AT/RT) reveal discrete features of progression on histology, epigenetics, copy number profiling, and transcriptomics
Atypical teratoid/rhabdoid tumors (AT/RT) are the most common malignant brain tumors manifesting in infancy. They split into four molecular types....
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CDKN2A somatic copy number amplification in normal tissues surrounding gastric carcinoma reduces cancer metastasis risk in droplet digital PCR analysis
BackgroundThe CDKN2A gene is frequently affected by somatic copy number variations (SCNVs, including deletions and amplifications [SCNdel and...
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Assessment of the bi-directional relationship between blood mitochondrial DNA copy number and type 2 diabetes mellitus: a multivariable-adjusted regression and Mendelian randomisation study
Aims/hypothesisMitochondrial dysfunction, which can be approximated by blood mitochondrial DNA copy number (mtDNA-CN), has been implicated in the...
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Methylation and copy number profiling: emerging tools to differentiate osteoblastoma from malignant mimics?
Rearrangements of the transcription factors FOS and FOSB have recently been identified as the genetic driver event underlying osteoid osteoma and...
