Results 1 to 10 of about 200,749 (135)

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, Jie Pan, Xu Yang, Jiao Zhang, Ke Hu, Xi Wang, Yilei Mao, Henghui Zhang, Xiaobo Yang, Haitao Zhao, Xinting Sang, Keyan Yang, Dongxu Wang, Jianzhen Lin, Junyu Long, Fucun Xie, Jinzhu Mao, Jin Bian, Mei Guan, Li Huo   +19 more
doaj   +3 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, Kirk M McHugh, Pat D Brophy, Nader Shaikh, J Robert Manak, Peter Andrews, Inessa Hakker, Zihua Wang, Andrew L Schwaderer, David S Hains   +9 more
doaj   +3 more sources

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, Harutyunyan T, Aroutiounian R, Liehr T.   +3 more
europepmc   +2 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, Dittmar RL, Xia S, Zhang H, Du M, Huang CC, Druliner BR, Boardman L, Wang L.   +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

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, Koltšina M, Raid R, Kurg A, Tõnisson N, Salumets A.   +5 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

DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders [PDF]

Italian Journal of Pediatrics
Background 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, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li   +9 more
doaj   +2 more sources

Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study [PDF]

Diseases
Background/Objectives: Triple-negative breast cancer (TNBC) is a highly aggressive subtype with limited therapeutic options, and identifying reliable biomarkers for diagnosis and prognosis is crucial for improving patient outcomes.
Karin Manto, Sevdican Ustun Yilmaz, Zeliha Pala Kara, Halil Kara, Fatma Tokat, Cemaliye B. Akyerli, Cihan Uras, Meltem Muftuoglu, Ugur Özbek   +8 more
doaj   +2 more sources

DNA copy number, including telomeres and mitochondria, assayed using next-generation sequencing

BMC Genomics, 2010
Background DNA copy number variations occur within populations and aberrations can cause disease. We sought to develop an improved lab-automatable, cost-efficient, accurate platform to profile DNA copy number.
Jackson Stuart, Misura Kira, Chen Ronghua, Xie Tao, Bouzek Heather, Biery Matthew, Castle John C, Armour Christopher D, Johnson Jason M, Rohl Carol A, Raymond Christopher K   +10 more
doaj   +2 more sources