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https://www.readbyqxmd.com/read/28107458/neuropilin-1-involvement-in-choroidal-and-retinal-neovascularisation
#1
Patricia Fernández-Robredo, Senthil Selvam, Michael B Powner, Dawn A Sim, Marcus Fruttiger
PURPOSE: Inhibiting VEGF is the gold standard treatment for neovascular age-related macular degeneration (AMD). It is also effective in preventing retinal oedema and neovascularisation (NV) in diabetic retinopathy (DR) and retinal vein occlusions (RVO). Neuropilin 1 (Nrp1) is a co-receptor for VEGF and many other growth factors, and therefore a possible alternative drug target in intra ocular neovascular disease. Here we assessed choroidal and retinal NV in an inducible, endothelial specific knock out model for Nrp1...
2017: PloS One
https://www.readbyqxmd.com/read/28107356/integrity-of-induced-pluripotent-stem-cell-ipsc-derived-megakaryocytes-as-assessed-by-genetic-and-transcriptomic-analysis
#2
Kai Kammers, Margaret A Taub, Ingo Ruczinski, Joshua Martin, Lisa R Yanek, Alyssa Frazee, Yongxing Gao, Dixie Hoyle, Nauder Faraday, Diane M Becker, Linzhao Cheng, Zack Z Wang, Jeff T Leek, Lewis C Becker, Rasika A Mathias
Previously, we have described our feeder-free, xeno-free approach to generate megakaryocytes (MKs) in culture from human induced pluripotent stem cells (iPSCs). Here, we focus specifically on the integrity of these MKs using: (1) genotype discordance between parent cell DNA to iPSC cell DNA and onward to the differentiated MK DNA; (2) genomic structural integrity using copy number variation (CNV); and (3) transcriptomic signatures of the derived MK lines compared to the iPSC lines. We detected a very low rate of genotype discordance; estimates were 0...
2017: PloS One
https://www.readbyqxmd.com/read/28106308/measuring-expectation-of-pain-contingent-negative-variation-in-placebo-and-nocebo-effects
#3
A Piedimonte, G Guerra, S Vighetti, E Carlino
BACKGROUND: Expectation is an important mechanism underlying placebo response. Here, we analysed expectation of placebo hypoalgesia and nocebo hyperalgesia by using, for the first time, the contingent negative variation (CNV), also known as expectancy wave. METHODS: Subjects were presented a green or red cue followed by a train of either non painful or painful electrical stimuli, and expected hypoalgesia after the green and hyperalgesia after the red cue. In experiment 1, expectation was reinforced using a conditioning procedure whereby the green and red cues were paired with non painful and painful stimuli, respectively (acquisition)...
January 20, 2017: European Journal of Pain: EJP
https://www.readbyqxmd.com/read/28103602/intraocular-cytokines-and-their-correlations-with-clinical-parameters-in-patients-with-myopic-choroidal-neovascularization
#4
Andrey G Shchuko, Natalia V Zaitseva, Tatyana N Yurieva, Elena R Chernykh, Isay M Mikhalevich, Ekaterina Y Shevela, Alina V Grigorieva
PURPOSE: To study cytokine levels in aqueous humor of patients with myopic choroidal neovascularization (mCNV), their correlations with each other and ocular parameters. METHODS: Ophthalmological examination and immunological study of aqueous humor with cytokine levels measurement (Bio-Plex™ Human Cytokine 27-Plex panel; Bio-Rad Laboratories, USA) were performed in 19 patients (19 eyes) with ranibizumab-treated mCNV and compared to 15 patients (15 eyes) with myopia without CNV...
January 20, 2017: Ophthalmologica. Journal International D'ophtalmologie
https://www.readbyqxmd.com/read/28102741/tutorial-on-biostatistics-linear-regression-analysis-of-continuous-correlated-eye-data
#5
Gui-Shuang Ying, Maureen G Maguire, Robert Glynn, Bernard Rosner
PURPOSE: To describe and demonstrate appropriate linear regression methods for analyzing correlated continuous eye data. METHODS: We describe several approaches to regression analysis involving both eyes, including mixed effects and marginal models under various covariance structures to account for inter-eye correlation. We demonstrate, with SAS statistical software, applications in a study comparing baseline refractive error between one eye with choroidal neovascularization (CNV) and the unaffected fellow eye, and in a study determining factors associated with visual field in the elderly...
January 19, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28102595/-they-can-t-find-anything-wrong-with-him-yet-mothers-experiences-of-parenting-an-infant-with-a-prenatally-diagnosed-copy-number-variant-cnv
#6
Allison Werner-Lin, Sarah Walser, Frances K Barg, Barbara A Bernhardt
Chromosome microarray (CMA) testing is used widely in prenatal settings. Some copy number variants (CNVs) detected using CMA are associated with variable or uncertain phenotype and/or possible neurocognitive involvement. Little is known about parenting an infant following such findings. Researchers conducted interviews with 23 mothers of infants diagnosed prenatally with a potentially pathogenic CNV to elicit perspectives on the child's development and disclosure of results to others. Interviews were audiotaped and analyzed for common themes...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28101908/recurrent-rearrangements-of-human-amylase-genes-create-multiple-independent-cnv-series
#7
Nzar A A Shwan, Sandra Louzada, Fengtang Yang, John A L Armour
The human amylase gene cluster includes the human salivary (AMY1) and pancreatic amylase genes (AMY2A and AMY2B), and is a highly variable and dynamic region of the genome. Copy number variation of AMY1 has been implicated in human dietary adaptation, and in population association with obesity, but neither of these findings has been independently replicated. Despite these functional implications, the structural genomic basis of copy number variation (CNV) has only been defined in detail very recently. In this work we use high-resolution analysis of copy number, and analysis of segregation in trios, to define new, independent allelic series of amylase CNVs in sub-Saharan Africans, including a series of higher-order expansions of a unit consisting of one copy each of AMY1, AMY2A and AMY2B...
January 19, 2017: Human Mutation
https://www.readbyqxmd.com/read/28100915/whole-exome-sequencing-study-reveals-common-copy-number-variants-in-protocadherin-genes-associated-with-childhood-obesity-in-koreans
#8
S Moon, M Y Hwang, H B Jang, S Han, Y J Kim, J-Y Hwang, H-J Lee, S I Park, J Song, B-J Kim
Recently, the prevalence of childhood obesity has significantly increased in industrialized countries, including Korea, and now controlling obesity is becoming an economic burden. However, knowledge of the risk factors associated with obesity is still limited. In this study, we aimed to discover additional obesity-associated loci in children. To achieve this, we conducted an exome-wide association analysis of copy number variation (CNV) using whole-exome sequencing (WES) data from a total of 102 cases and 86 controls...
January 19, 2017: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28100184/cnvs-into-the-wild-screening-the-genomes-of-conifer-trees-picea-spp-reveals-fewer-gene-copy-number-variations-in-hybrids-and-links-to-adaptation
#9
Julien Prunier, Sébastien Caron, John MacKay
BACKGROUND: Copy number variations (CNVs) have been linked to different phenotypes in human, including many diseases. A genome-scale understanding of CNVs is available in a few plants but none are wild species, leaving a knowledge gap regarding their genome biology and evolutionary role. We developed a reliable CNV detection method for species lacking contiguous reference genome. We selected multiple probes within 14,078 gene sequences and developed comparative genome hybridization on arrays...
January 18, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28092911/behaviour-of-cd11b-positive-cells-in-an-animal-model-of-laser-induced-choroidal-neovascularisation
#10
Lu Li, Peter Heiduschka, Anne F Alex, Daniel Niekämper, Nicole Eter
BACKGROUND/AIM: Immune cells, e.g. microglial cells of the retina, appear to be involved in pathological processes in neovascular age-related macular degeneration. Therefore, the purpose of this study was to immunohistochemically check the expression of various factors and cytokines by CD11b-positive (CD11b+) immune cells in an animal model of choroidal neovascularisation (CNV). METHODS: We used the animal model of laser-induced CNV in mice. Eyes were isolated at 1, 4, 7, and 14 days after laser treatment...
January 17, 2017: Ophthalmologica. Journal International D'ophtalmologie
https://www.readbyqxmd.com/read/28090239/the-screening-and-ranking-algorithm-for-change-points-detection-in-multiple-samples
#11
Chi Song, Xiaoyi Min, Heping Zhang
The chromosome copy number variation (CNV) is the deviation of genomic regions from their normal copy number states, which may associate with many human diseases. Current genetic studies usually collect hundreds to thousands of samples to study the association between CNV and diseases. CNVs can be called by detecting the change-points in mean for sequences of array-based intensity measurements. Although multiple samples are of interest, the majority of the available CNV calling methods are single sample based...
December 2016: Annals of Applied Statistics
https://www.readbyqxmd.com/read/28081277/comparative-genomic-hybridization-analysis-of-rice-dwarf-mutants-induced-by-gamma-irradiation
#12
J E Hwang, S-H Kim, I J Jung, S M Han, J-W Ahn, S-J Kwon, S H Kim, S-Y Kang, D S Kim, J-B Kim
Comparative genomic hybridization (CGH) is a powerful tool used to analyze changes in copy number, polymorphisms, and structural variations in the genome. Gene copy number variation (CNV) is a common form of natural diversity in the genome, which can create new genes and alter gene structure. Thus, CNVs may influence phenotypic variation and gene expression. In this study, to detect CNVs, we irradiated rice seeds with gamma rays (300 Gy) and selected two dwarf mutagenized plants, GA-III-189 and -1052, in the M3 generation...
December 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28079130/association-of-nsv823469-copy-number-loss-with-decreased-risk-of-chronic-obstructive-pulmonary-disease-and-pulmonary-function-in-chinese
#13
Xiaoliang Chen, Xiaoxiao Lu, Jiansong Chen, Di Wu, Fuman Qiu, Huali Xiong, Zihua Pan, Lei Yang, Binyao Yang, Chenli Xie, Yifeng Zhou, Dongsheng Huang, Yumin Zhou, Jiachun Lu
It is highly possible that copy number variations (CNVs) in susceptible regions have effects on chronic obstructive pulmonary disease (COPD) development, while long noncoding RNA (lncRNAs) have been shown to cause COPD. We hypothesized that the common CNV, named nsv823469 located on 6p22.1, and covering lncRNAs (major histocompatibility complex, class I, A (HLA-A) and HLA complex group 4B (HCG4B)) has an effect on COPD risk. This association was assessed through a two-stage case-control study, and was further confirmed with COPD and pulmonary function-based family analyses, respectively...
January 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28079023/incidence-and-growth-of-geographic-atrophy-during-5-years-of-comparison-of-age-related-macular-degeneration-treatments-trials
#14
Juan E Grunwald, Maxwell Pistilli, Ebenezer Daniel, Gui-Shuang Ying, Wei Pan, Glenn J Jaffe, Cynthia A Toth, Stephanie A Hagstrom, Maureen G Maguire, Daniel F Martin
PURPOSE: To estimate the incidence, size, and growth rate of geographic atrophy (GA) during 5 years of follow-up among participants in the Comparison of Age-Related Macular Degeneration Treatments Trials (CATT). DESIGN: Cohort within a clinical trial. PARTICIPANTS: Participants included in CATT. METHODS: A total of 1185 CATT participants were randomly assigned to ranibizumab or bevacizumab treatment and to 3 treatment regimens...
January 2017: Ophthalmology
https://www.readbyqxmd.com/read/28074849/genetic-variants-identified-from-epilepsy-of-unknown-etiology-in-chinese-children-by-targeted-exome-sequencing
#15
Yimin Wang, Xiaonan Du, Rao Bin, Shanshan Yu, Zhezhi Xia, Guo Zheng, Jianmin Zhong, Yunjian Zhang, Yong-Hui Jiang, Yi Wang
Genetic factors play a major role in the etiology of epilepsy disorders. Recent genomics studies using next generation sequencing (NGS) technique have identified a large number of genetic variants including copy number (CNV) and single nucleotide variant (SNV) in a small set of genes from individuals with epilepsy. These discoveries have contributed significantly to evaluate the etiology of epilepsy in clinic and lay the foundation to develop molecular specific treatment. However, the molecular basis for a majority of epilepsy patients remains elusive, and furthermore, most of these studies have been conducted in Caucasian children...
January 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28062929/epidemiology-treatment-pattern-and-health-care-utilization-of-myopic-choroidal-neovascularization-a-population-based-study
#16
Ming-Chin Yang, Yen-Po Chen, Elise Chia-Hui Tan, Claudia Leteneux, Erin Chang, Carol Hy Chu, Chi-Chun Lai
PURPOSE: To investigate the prevalence and incidence of myopic choroidal neovascularization (CNV) in Taiwan, including the health care utilization and treatment-associated costs. METHODS: A retrospective cohort study using existing data from the Taiwanese National Health Insurance claims database to identify patients who had a diagnosis of myopic CNV recorded from 1 January 2009 to 31 December 2011. The prevalence of myopic CNV was monitored during this period, and the frequency and cost of both treatment visits and monitoring visits were analyzed for 2 years following diagnosis...
January 6, 2017: Japanese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28061750/genomecat-a-versatile-tool-for-the-analysis-and-integrative-visualization-of-dna-copy-number-variants
#17
Katrin Tebel, Vivien Boldt, Anne Steininger, Matthias Port, Grit Ebert, Reinhard Ullmann
BACKGROUND: The analysis of DNA copy number variants (CNV) has increasing impact in the field of genetic diagnostics and research. However, the interpretation of CNV data derived from high resolution array CGH or NGS platforms is complicated by the considerable variability of the human genome. Therefore, tools for multidimensional data analysis and comparison of patient cohorts are needed to assist in the discrimination of clinically relevant CNVs from others. RESULTS: We developed GenomeCAT, a standalone Java application for the analysis and integrative visualization of CNVs...
January 6, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/28056283/-copy-number-variants-analysis-in-whole-genome-of-patients-with-lipoma-tethered-cord-syndrome
#18
B Z Tao, X G Yu, C Cheng, R Zong, Z Y Zhao, L K Wang, A J Shang
Objective: To explore the abnormality of chromosomes of patients with lipoma tethered cord syndrome and the probable association between Copy Number Variations (CNV) and lipoma tethered cord syndrome. Methods: By using the Agilent SurePrint G3 Human CGH 8×60K Microarray Kit, we performed genome-wide screening for CNV on 11 patients with lipoma tethered cord syndrome adopted by the Neurosurgery Department of Chinese PLA General Hospital and their healthy parents from March 2015 to May 2015. We analyze CNVs got by the kit against the gene databases...
January 3, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28046031/confirmation-of-the-ovol2-promoter-mutation-c-307t-c-in-posterior-polymorphous-corneal-dystrophy-1
#19
Doug D Chung, Ricardo F Frausto, Aleck E Cervantes, Katherine M Gee, Marina Zakharevich, Evelyn M Hanser, Edwin M Stone, Elise Heon, Anthony J Aldave
PURPOSE: To identify the genetic basis of posterior polymorphous corneal dystrophy (PPCD) in families mapped to the PPCD1 locus and in affected individuals without ZEB1 coding region mutations. METHODS: The promoter, 5' UTR, and coding regions of OVOL2 was screened in the PPCD family in which linkage analysis established the PPCD1 locus and in 26 PPCD probands who did not harbor a ZEB1 mutation. Copy number variation (CNV) analysis in the PPCD1 and PPCD3 intervals was performed on DNA samples from eight probands using aCGH...
2017: PloS One
https://www.readbyqxmd.com/read/28035070/elucidation-of-the-genetic-and-epigenetic-landscape-alterations-in-rna-binding-proteins-in-glioblastoma
#20
Shruti Bhargava, Vikas Patil, Kulandaivelu Mahalingam, Kumaravel Somasundaram
RNA binding proteins (RBPs) have been implicated in cancer development. An integrated bioinformatics analysis of RBPs (n = 1756) in various datasets (n = 11) revealed several genetic and epigenetically altered events among RBPs in glioblastoma (GBM). We identified 13 mutated and 472 differentially regulated RBPs in GBM samples. Mutations in AHNAK predicted poor prognosis. Copy number variation (CNV), DNA methylation and miRNA targeting contributed to RBP differential regulation. Two sets of differentially regulated RBPs that may be implicated in initial astrocytic transformation and glioma progression were identified...
December 27, 2016: Oncotarget
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