Copy number variation at leptin receptor gene locus associated with metabolic traits and the risk of type 2 diabetes mellitus [PDF]
BMC Genomics, 2010 Background Recent efforts have been made to link complex human traits and disease susceptibility to DNA copy numbers. The leptin receptor (LEPR) has been implicated in obesity and diabetes.
Kim Hyung-Lae +6 more
doaj +3 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 +2 more sources
Reconstructing DNA copy number by joint segmentation of multiple sequences [PDF]
BMC Bioinformatics, 2012 Background Variations in DNA copy number carry information on the modalities of genome evolution and mis-regulation of DNA replication in cancer cells. Their study can help localize tumor suppressor genes, distinguish different populations of cancerous ...
Zhang Zhongyang +2 more
doaj +6 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 +2 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 +2 more sources
Cell-free DNA test for pathogenic copy number variations: A retrospective study
Taiwanese Journal of Obstetrics & Gynecology, 2021 Objective: To evaluate the detection rate (DR) by prenatal cell-free DNA test for pathogenic copy number variations (CNVs)＞2 Mb among pregnancies with fetal ultrasound abnormalities.
Hong-Lei Duan +7 more
doaj +3 more sources
The use of ultra-dense array CGH analysis for the discovery of micro-copy number alterations and gene fusions in the cancer genome [PDF]
BMC Medical Genomics, 2011 Background Molecular alterations critical to development of cancer include mutations, copy number alterations (amplifications and deletions) as well as genomic rearrangements resulting in gene fusions. Massively parallel next generation sequencing, which
Basik Mark +2 more
doaj +2 more sources
Association of Mitochondrial DNA Copy Number Variations with Triple-Negative Breast Cancer: A Potential Biomarker Study [PDF]
DiseasesBackground/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 +8 more
doaj +2 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Several copy number variations (CNVs) are associated with increased risk for neurodevelopmental and psychiatric disorders. The CNV 15q11.2 (BP1‐BP2) deletion has been associated with learning difficulties, attention deficit hyperactivity ...
Lina Jonsson +6 more
doaj +1 more source
Integration of DNA copy number alterations and transcriptional expression analysis in human gastric cancer. [PDF]
PLoS ONE, 2012 BACKGROUND: Genomic instability with frequent DNA copy number alterations is one of the key hallmarks of carcinogenesis. The chromosomal regions with frequent DNA copy number gain and loss in human gastric cancer are still poorly defined.
Biao Fan +9 more
doaj +1 more source