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https://www.readbyqxmd.com/read/27920798/evolutionary-and-functional-features-of-copy-number-variation-in-the-cattle-genome
#1
Brittney N Keel, Amanda K Lindholm-Perry, Warren M Snelling
Genomic structural variations are an important source of genetic diversity. Copy number variations (CNVs), gains and losses of large regions of genomic sequence between individuals of a species, have been associated with a wide variety of phenotypic traits. However, in cattle, as well as many other species, relatively little is understood about CNV, including frequency of CNVs in the genome, sizes, and locations, chromosomal properties, and evolutionary processes acting to shape CNV. In this work, we focused on copy number variation in the bovine genome, with the aim to detect CNVs in Bos taurus coding sequence and explore potential evolutionary mechanisms shaping these CNV...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27920521/celastrol-nanomicelles-attenuate-cytokine-secretion-in-macrophages-and-inhibit-macrophage-induced-corneal-neovascularization-in-rats
#2
Zhanrong Li, Jingguo Li, Lei Zhu, Ying Zhang, Junjie Zhang, Lin Yao, Dan Liang, Liya Wang
The aim of the present study was to investigate the inhibitory effects of celastrol-loaded nanomicelles (CNMs) on activated macrophage-induced corneal neovascularization (CNV) in rats and cytokine secretion in macrophages. Using an angiogenesis assay in vitro, we detected the effects of CNMs on human umbilical vein endothelial cell (HUVEC) migration and invasion. In addition, the expression levels of cytokines secreted from hypoxia-induced macrophages were assessed through cytokine array analysis. The expression of hypoxia-inducible factors-1α (HIF-1α), nuclear factor-kappa B p65 (NF-κB p65), phospho-nuclear factor-kappa B p65 (phospho-NF-κB p65), p38 mitogen-activated protein kinase (p38 MAPK), phospho-p38 MAPK, extracellular signal-regulated kinase 1/2 (ERK1/2), and phospho-ERK1/2 was analyzed by western blotting...
2016: International Journal of Nanomedicine
https://www.readbyqxmd.com/read/27918830/the-antiangiogenic-effects-of-gold-nanoparticles-on-experimental-choroidal-neovascularization-in-mice
#3
Young-Jung Roh, Chang Rae Rho, Won-Kyung Cho, Seungbum Kang
Purpose: The purpose of this study was to evaluate the antiangiogenic effect of gold nanoparticles (AuNPs) on experimental choroidal neovascularization (CNV) in mice. Methods: Choroidal neovascularization was induced by rupturing the Bruch's membrane using laser photocoagulation in C57BL/6 mice. The following day, intravitreal injections of AuNPs were administered. The control group received PBS injection of the same volume. Two weeks after laser injury, CNV lesions were evaluated by examination of choroidal flat-mounts using fluorescein-labeled dextran and immunofluorescence staining with isolectin B4...
December 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27917889/comparative-study-between-a-spectral-domain-and-a-high-speed-single-beam-swept-source-octa-system-for-identifying-choroidal-neovascularization-in-amd
#4
R Told, L Ginner, A Hecht, S Sacu, R Leitgeb, A Pollreisz, U Schmidt-Erfurth
This comparative study between a SD- and SS-OCTA system for visualizing neovascular patterns in AMD, also assessed the influence of cataract on OCTA imaging. 25 eyes with active CNV (AMD) were documented by FA, ICGA and SD-OCT. Two OCTA devices were used: A custom built SS-OCTA (1050 nm, 400,000 A-scans/s, 5 × 5 mm, no image segmentation); AngioVue (OptoVue, CA, USA) SD-OCTA (840 nm, 70.000 A-scans/s, 3 × 3 mm, SSADA technology). Two retina experts graded CNV types and vascular patterns. Cataract influence on OCTA image quality was reported for the superficial retinal plexus (6 eyes)...
December 5, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27913869/ranibizumab-for-vascularized-pigment-epithelial-detachment-1-year-anatomic-and-functional-results
#5
Olivier Chevreaud, Hassiba Oubraham, Salomon Y Cohen, Camille Jung, Rocio Blanco-Garavito, Farah Gherdaoui, Eric H Souied
PURPOSE: To assess the anatomical and functional efficacy of ranibizumab on vascularized pigment epithelial detachment (V-PED) secondary to neovascular age-related macular degeneration (nAMD). METHODS: One hundred and nine patients (116 eyes) were retrospectively selected from medical records of 2097 patients who benefited from intravitreal injection between January 2011 and June 2013 in a tertiary-care University-based Department of Ophthalmology. Inclusion criteria were: nAMD, treatment-naive eyes, presence of V-PED higher than 250 μm, intravitreal ranibizumab with a loading phase, followed by a pro-re-nata regimen, and 1-year follow-up...
December 3, 2016: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/27913447/comparison-of-oct-angiography-and-indocyanine-green-angiographic-findings-with-subtypes-of-polypoidal-choroidal-vasculopathy
#6
Koji Tanaka, Ryusaburo Mori, Akiyuki Kawamura, Hiroyuki Nakashizuka, Yu Wakatsuki, Mitsuko Yuzawa
PURPOSE: To compare the findings of optical coherence tomography angiography (OCTA) with indocyanine green angiography (ICGA) in polypoidal choroidal vasculopathy (PCV) that was divided into two types: polypoidal choroidal neovascularisation (CNV) and typical PCV (type 2 PCV). METHODS: We studied a retrospective case series of 32 patients with treatment-naïve PCV (24 men, eight women; mean age 65.4 years). PCV was categorised into polypoidal CNV (type 1 PCV) and type 2 PCV based on ICGA findings...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27913440/optical-coherence-tomographic-angiography-of-choroidal-neovascularization-ill-defined-with-fluorescein-angiography
#7
Mehrdad Malihi, Yali Jia, Simon S Gao, Christina Flaxel, Andreas K Lauer, Thomas Hwang, David J Wilson, David Huang, Steven T Bailey
PURPOSE: To evaluate the morphological structure of ill-defined choroidal neovascularisation (CNV) with traditional fluorescein angiography (FA) compared with optical coherence tomographic angiography (OCTA). METHODS: A retrospective case series study of 11 eyes with ill-defined CNV on FA was performed. Eyes were scanned with commercially available spectral-domain optical coherence tomography (OCT) (70 000 A-scans/s). The split-spectrum amplitude-decorrelation angiography (SSADA) algorithm was used to distinguish blood flow from static tissue...
December 2, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27911444/impact-of-optical-coherence-tomography-scanning-density-on-quantitative-analyses-in-neovascular-age-related-macular-degeneration
#8
S B Velaga, M G Nittala, R K Konduru, F Heussen, P A Keane, S R Sadda
PurposeTo assess the influence of varying B-scan frame-sampling densities on retinal thickness and volume measurements from spectral domain optical coherence tomography (OCT) in eyes with neovascular age-related macular degeneration (AMD).MethodsVolume OCT data (512 × 128 macular cube over 6 × 6 mm) were collected from 39 eyes with neovascular AMD. All 128 B-scans in each image set were manually segmented, allowing quantification of the neurosensory retina, subretinal fluid (SRF), subretinal hyperreflective material (SRHM), and pigment epithelium detachment (PED)...
December 2, 2016: Eye
https://www.readbyqxmd.com/read/27909141/developing-a-risk-scoring-model-for-ankylosing-spondylitis-based-on-a-combination-of-hla-b27-single-nucleotide-polymorphism-and-copy-number-variant-markers
#9
Seung-Hyun Jung, Sung-Min Cho, Seon-Hee Yim, So-Hee Kim, Hyeon-Chun Park, Mi-La Cho, Seung-Cheol Shim, Tae-Hwan Kim, Sung-Hwan Park, Yeun-Jun Chung
OBJECTIVE: To develop a genotype-based ankylosing spondylitis (AS) risk prediction model that is more sensitive and specific than HLA-B27 typing. METHODS: To develop the AS genetic risk scoring (AS-GRS) model, 648 individuals (285 cases and 363 controls) were examined for 5 copy number variants (CNV), 7 single-nucleotide polymorphisms (SNP), and an HLA-B27 marker by TaqMan assays. The AS-GRS model was developed using logistic regression and validated with a larger independent set (576 cases and 680 controls)...
December 2016: Journal of Rheumatology
https://www.readbyqxmd.com/read/27902797/self-fertility-in-a-cultivated-diploid-potato-population-examined-with-the-infinium-8303-potato-single-nucleotide-polymorphism-array
#10
Brenda A Peterson, Sarah H Holt, F Parker E Laimbeer, Andreas G Doulis, Joseph Coombs, David S Douches, Michael A Hardigan, C Robin Buell, Richard E Veilleux
Within a population of F hybrids between two genotypes ( L. Group Phureja DM 1-3 516 R44 [DM] and L. Group Tuberosum RH89-039-16 [RH]) used in the potato genome sequencing project, we observed fruit set after self-pollination on many plants. Examination of pollen tube growth in self-fertile and self-unfruitful F plants after controlled self-pollinations revealed no difference in the ability of pollen tubes to reach the ovary. To identify genomic regions linked with self-fertility, we genotyped the F population using a genome-wide single-nucleotide polymorphism (SNP) array...
November 2016: Plant Genome
https://www.readbyqxmd.com/read/27897270/trueprime-is-a-novel-method-for-whole-genome-amplification-from-single-cells-based-on-tthprimpol
#11
Ángel J Picher, Bettina Budeus, Oliver Wafzig, Carola Krüger, Sara García-Gómez, María I Martínez-Jiménez, Alberto Díaz-Talavera, Daniela Weber, Luis Blanco, Armin Schneider
Sequencing of a single-cell genome requires DNA amplification, a process prone to introducing bias and errors into the amplified genome. Here we introduce a novel multiple displacement amplification (MDA) method based on the unique DNA primase features of Thermus thermophilus (Tth) PrimPol. TthPrimPol displays a potent primase activity preferring dNTPs as substrates unlike conventional primases. A combination of TthPrimPol's unique ability to synthesize DNA primers with the highly processive Phi29 DNA polymerase (Φ29DNApol) enables near-complete whole genome amplification from single cells...
November 29, 2016: Nature Communications
https://www.readbyqxmd.com/read/27896456/dna-copy-number-profiling-in-microsatellite-stable-and-microsatellite-unstable-hereditary-non-polyposis-colorectal-cancers-by-targeted-cnv-array
#12
Weixiang Chen, Jun Ding, Long Jiang, Zebing Liu, Xiaoyan Zhou, Daren Shi
About half of hereditary non-polyposis colorectal cancers (HNPCCs) fulfilling the Amsterdam criteria (AC) do not display evidence of mismatch repair defects, and the difference between microsatellite-stable (MSS) and microsatellite-unstable HNPCC remains poorly understood. The study was to compare overall copy number variation (CNV) and loss of heterozygosity (LOH) of the entire genome in HNPCCs with MSS and microsatellite-instability (MSI) using the Cytoscan HD Array. This was a study carried out in samples from 20 patients with MSS HNPCC and four patients with MSI HNPCC from the Fudan University Shanghai Cancer Center (China)...
November 28, 2016: Functional & Integrative Genomics
https://www.readbyqxmd.com/read/27892746/choroidal-neovascularization-associated-with-multiple-evanescent-white-dot-syndrome-treated-with-intravitreal-ranibizumab
#13
Maurizio Battaglia Parodi, Pierluigi Iacono, Ilaria Zucchiatti, Francesco Bandello
PURPOSE: To describe the clinical outcomes of intravitreal ranibizumab treatment for subfoveal choroidal neovascularization (CNV) associated with multiple evanescent white dot syndrome (MEWDS). METHODS: This is a prospective, interventional, case series. All recruited patients underwent a baseline intravitreal ranibizumab injection and were monitored monthly over a 12-month follow-up, following a pro-re-nata regimen. RESULTS: Four patients (four eyes) were included in the study...
November 28, 2016: Ocular Immunology and Inflammation
https://www.readbyqxmd.com/read/27888432/candidate-predisposing-germline-copy-number-variants-in-early-onset-colorectal-cancer-patients
#14
A J Brea-Fernandez, C Fernandez-Rozadilla, M Alvarez-Barona, D Azuara, M M Ginesta, J Clofent, L de Castro, D Gonzalez, M Andreu, X Bessa, X Llor, R Xicola, R Jover, A Castells, S Castellvi-Bel, G Capella, A Carracedo, C Ruiz-Ponte
PURPOSE: A great proportion of the heritability of colorectal cancer (CRC) still remains unexplained, and rare variants, as well as copy number changes, have been proposed as potential candidates to explain the so-called 'missing heritability'. We aimed to identify rare high-to-moderately penetrant copy number variants (CNVs) in patients suspected of having hereditary CRC due to an early onset. METHODS/PATIENTS: We have selected for genome-wide copy number analysis, 27 MMR-proficient early onset CRC patients (<50 years) without identifiable germline mutations in Mendelian genes related to this phenotype...
November 25, 2016: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/27885338/effects-of-intravitreal-ranibizumab-injection-on-chinese-patients-with-wet-age-related-macular-degeneration-5-year-follow-up-results
#15
Yingyi Lu, Jianfeng Huang, Jing Zhao, Xiaobing Yu, Li Long, Hong Dai
Purpose. To observe the effect of intravitreal ranibizumab injection on wet age-related macular degeneration (wAMD) over 5 years in Chinese patients. Methods. Thirty-seven patients who were diagnosed with wAMD in our hospital from June 2007 to June 2014 were retrospectively reviewed. The PRN regimen and the treatment and extend regimen were applied. Best corrected visual acuity (BCVA), number of ranibizumab injections, and changes in the choroidal neovascularization (CNV) lesion over 5 years were analyzed. Results...
2016: Journal of Ophthalmology
https://www.readbyqxmd.com/read/27881083/loss-of-maternal-annexin-a10-via-a-34-kb-deleted-type-copy-number-variation-is-associated-with-embryonic-mortality-in-japanese-black-cattle
#16
Shinji Sasaki, Takayuki Ibi, Takayuki Akiyama, Moriyuki Fukushima, Yoshikazu Sugimoto
BACKGROUND: Conception is a fundamental trait for successful cattle reproduction. However, conception rates in Japanese Black cattle have been gradually declining over the last two decades. Although conception failures are mainly caused by embryonic mortality, the role of maternal genetic factors in the process remains unknown. Copy number variation (CNV), defined as large-scale genomic structural variants, contributes to several genetic disorders. To identify CNV associated with embryonic mortality in Japanese Black cattle, we evaluated embryonic mortality as a categorical trait with a threshold model and conducted a genome-wide CNV association study for embryonic mortality using 791 animals...
November 24, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27879477/robust-group-fused-lasso-for-multisample-copy-number-variation-detection-under-uncertainty
#17
Hossein Sharifi Noghabi, Majid Mohammadi, Yao-Hua Tan
One of the most important needs in the post-genome era is providing the researchers with reliable and efficient computational tools to extract and analyse this huge amount of biological data, in which DNA copy number variation (CNV) is a vitally important one. Array-based comparative genomic hybridisation (aCGH) is a common approach in order to detect CNVs. Most of methods for this purpose were proposed for one-dimensional profiles. However, slightly this focus has moved from one- to multi-dimensional signals...
December 2016: IET Systems Biology
https://www.readbyqxmd.com/read/27878529/association-between-copy-number-variation-on-metabolic-phenotypes-and-hdl-c-levels-in-patients-with-polycystic-ovary-syndrome
#18
Birgit Knebel, Stefan Lehr, Onno E Janssen, Susanne Hahn, Sylvia Jacob, Ulrike Nitzgen, Dirk Müller-Wieland, Jorg Kotzka
Polygenic diseases with a broad phenotypic spectrum, such as polycystic ovary syndrome (PCOS), present a particular challenge in terms of identifying the underlying genetic mechanisms, nevertheless genetic variants have impact on the individual phenotype. We aimed to determine if next to genetic variations like SNPs further mechanisms might play a role in the pathogenesis of PCOS. We examined the effect of copy-number variations (CNVs) on metabolic phenotypes in PCOS. The intragenic rs1244979, rs2815752 in NEGR1 gene, and rs780094 in GCKR gene were genotyped and CNVs were determined by droplet digital polymerase chain reaction (ddPCR) in PCOS patients (n = 153) and controls without metabolic syndrome (n = 142)...
November 22, 2016: Molecular Biology Reports
https://www.readbyqxmd.com/read/27876140/retinal-pigment-epithelium-cell-derived-exosomes-possible-relevance-to-cnv-in-wet-age-related-macular-degeneration
#19
Yao Tong, Ya-Li Zhou, Yi-Xiao Wang, Pei-Quan Zhao, Zhao-Yang Wang
Exosomes are small vesicles that are released by almost every cell type and play a crucial role in many physiological and pathological processes associated with different diseases. Specifically, they promote angiogenesis in the pathogenesis of some diseases. According to previous research, the proteins of exosomes taken from the aqueous humor (AH) of patients with wet-age related macular degeneration (AMD) may function as a new diagnostic biomarker of AMD, suggesting that exosomes may play an important role in the occurrence and development of choroidal neovascularization (CNV)...
December 2016: Medical Hypotheses
https://www.readbyqxmd.com/read/27874077/lymphocytic-microparticles-modulate-angiogenic-properties-of-macrophages-in-laser-induced-choroidal-neovascularization
#20
Houda Tahiri, Samy Omri, Chun Yang, François Duhamel, Suzanne Samarani, Ali Ahmad, Mark Vezina, Martin Bussières, Elvire Vaucher, Przemyslaw Sapieha, Gilles Hickson, Karim Hammamji, Réjean Lapointe, Francis Rodier, Sophie Tremblay, Isabelle Royal, Jean-François Cailhier, Sylvain Chemtob, Pierre Hardy
Pathological choroidal neovascularization (CNV) is the common cause of vision loss in patients with age-related macular degeneration (AMD). Macrophages possess potential angiogenic function in CNV. We have demonstrated that human T lymphocyte-derived microparticles (LMPs) exert a potent antiangiogenic effect in several pathological neovascularization models. In this study, we investigated the alteration of proangiogenic properties of macrophages by LMPs treatment in vitro and in vivo models. LMPs regulated the expression of several angiogenesis-related factors in macrophages and consequently stimulated their antiangiogenic effects evidenced by the suppression of the proliferation of human retinal endothelial cells in co-culture experiments...
November 22, 2016: Scientific Reports
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