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https://www.readbyqxmd.com/read/28214102/vitreomacular-adhesion-and-the-risk-of-neovascular-age-related-macular-degeneration
#1
Emilia Maggio, Antonio Polito, Massimo Guerriero, Guido Prigione, Barbara Parolini, Grazia Pertile
PURPOSE: To assess the prevalence of vitreomacular adhesion (VMA) in consecutive naïve eyes diagnosed with exudative age-related macular degeneration (AMD) in comparison with eyes with nonexudative AMD and age-matched controls, and to evaluate prospectively the incidence of vitreomacular interface changes over time and their influence on choroidal neovascularization (CNV) development. DESIGN: Retrospective cross-sectional analysis and longitudinal cohort study conducted at Sacrocuore Hospital, Negrar, Verona, Italy...
February 14, 2017: Ophthalmology
https://www.readbyqxmd.com/read/28209587/genome-surgery-using-cas9-ribonucleoproteins-for-the-treatment-of-age-related-macular-degeneration
#2
Kyoungmi Kim, Sung Wook Park, Jin Hyoung Kim, Seung Hwan Lee, Daesik Kim, Taeyoung Koo, Kwang-Eun Kim, Jeong Hun Kim, Jin-Soo Kim
RNA-guided genome surgery using CRISPR-Cas9 nucleases has shown promise for the treatment of diverse genetic diseases. Yet, the potential of such nucleases for therapeutic applications in nongenetic diseases is largely unexplored. Here, we focus on age-related macular degeneration (AMD), a leading cause of blindness in adults, which is associated with retinal overexpression of, rather than mutations in, the VEGFA gene. Subretinal injection of preassembled, Vegfa gene-specific Cas9 ribonucleoproteins (RNPs) into the adult mouse eye gave rise to mutagenesis at the target site in the retinal pigment epithelium...
February 16, 2017: Genome Research
https://www.readbyqxmd.com/read/28205389/growth-inhibition-of-formed-corneal-neovascularization-following-fosaprepitant-treatment
#3
Fabio Bignami, Anna Lorusso, Paolo Rama, Giulio Ferrari
PURPOSE: The aim of this study was to test the efficacy of Neurokinin-1 Receptor (NK-1R) antagonist -Fosaprepitant- in inducing regression of established corneal neovascularization (CNV). METHODS: Twenty C57BL/6 mice underwent alkali burn. Seven days later, when corneal neovessels had developed, they received Fosaprepitant 10 mg/ml, administered topically six times a day in the right eye for 10 days. In parallel, a group of 20 causticated mice was treated with normal saline, as control...
February 15, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28203191/airbag-associated-severe-blunt-eye-injury-causes-choroidal-rupture-and-retinal-hemorrhage-a-case-report
#4
Shih Hao Wang, Chen Chee Lim, Yu Ti Teng
A case of choroidal rupture caused by airbag-associated blunt eye trauma and complicated with massive subretinal hemorrhage and vitreous hemorrhage that was successfully treated with intravitreal injection of expansile gas and bevacizumab is presented. A 53-year-old man suffered from loss of vision in his right eye due to blunt eye trauma by a safety airbag after a traffic accident. On initial examination, the patient had no light perception in his right eye. Dilated ophthalmoscopy revealed massive subretinal hemorrhage with macular invasion and faint vitreous hemorrhage...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28198786/optical-coherence-tomography-angiography-in-adult-onset-foveomacular-vitelliform-dystrophy
#5
Komal M Joshi, Peter L Nesper, Amani A Fawzi, Rukhsana G Mirza
PURPOSE: To determine the ability of optical coherence tomography angiography (OCTA) to detect choroidal neovascularization (CNV) in the pseudohypopyon stage of adult-onset foveomacular vitelliform dystrophy. METHODS: Prospective case series of eight consecutive patients with adult-onset foveomacular vitelliform dystrophy with at least one eye in the pseudohypopyon stage (a total of 14 eyes). Patients were assessed with spectral domain OCT, flourescein angiography, and OCTA...
February 14, 2017: Retina
https://www.readbyqxmd.com/read/28196412/mapk3-at-the-autism-linked-human-16p11-2-locus-influences-precise-synaptic-target-selection-at-drosophila-larval-neuromuscular-junctions
#6
Sang Mee Park, Hae Ryoun Park, Ji Hye Lee
Proper synaptic function in neural circuits requires precise pairings between correct pre- and post-synaptic partners. Errors in this process may underlie development of neuropsychiatric disorders, such as autism spectrum disorder (ASD). Development of ASD can be influenced by genetic factors, including copy number variations (CNVs). In this study, we focused on a CNV occurring at the 16p11.2 locus in the human genome and investigated potential defects in synaptic connectivity caused by reduced activities of genes located in this region at Drosophila larval neuromuscular junctions, a well-established model synapse with stereotypic synaptic structures...
February 15, 2017: Molecules and Cells
https://www.readbyqxmd.com/read/28192841/6-year-results-of-cnv-secondary-to-pathological-myopia-treated-with-ranibizumab
#7
L Hefner, H Gerding
Background The current standard treatment of choroidal neovascularisation (CNV) secondary to pathological myopia (PM) is intravitreal injection of VEGF antagonists. We now present our 6-year results after treating patients with CNV secondary to PM with ranibizumab. Patients and Methods We retrospectively analysed 15 treatment-naive eyes of 13 patients (10 women, 3 men, mean age 59.2; standard deviation (SD) 11.1; range 41-78 years) with visual impairment related to CNV secondary to PM, who were treated with at least 1 injection of ranibizumab...
February 13, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28192796/analysis-of-the-prpf31-gene-in-spanish-autosomal-dominant-retinitis-pigmentosa-patients-a-novel-genomic-rearrangement
#8
Inmaculada Martin-Merida, Rocio Sanchez-Alcudia, Patricia Fernandez-San Jose, Fiona Blanco-Kelly, Raquel Perez-Carro, Luciana Rodriguez-Jacy da Silva, Berta Almoguera, Blanca Garcia-Sandoval, Maria Isabel Lopez-Molina, Almudena Avila-Fernandez, Miguel Carballo, Marta Corton, Carmen Ayuso
Purpose: The aim was to determine the prevalence of PRPF31 mutations in a cohort of Spanish autosomal dominant retinitis pigmentosa (adRP) families to deepen knowledge of the pathogenic mechanisms underlying the disease and to assess genotype-phenotype correlations. Methods: A cohort of 211 adRP patients was screened for variants in PRPF31 by using a combined strategy comprising next-generation sequencing approaches and copy-number variation (CNV) analysis. Quantitative RT-PCR and CNV analysis of the regulatory MSR1 element were also performed to assess PRPF31 gene expression...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28192165/copy-number-variation-of-housekeeping-gene-rpl13a-in-rat-strains-selected-for-nervous-system-excitability
#9
Ruslan Kalendar, Alexander Belyayev, Tatiana Zachepilo, Alexander Vaido, Dmitry Maidanyuk, Alan H Schulman, Natalia Dyuzhikova
We evaluated copy number variation (CNV) for four genes in rat strains differing in nervous system excitability. rpl13a copy number is significantly reduced in hippocampus and bone marrow in rats with a high excitability threshold and stress. The observed phenomenon may be associated with a role for rpl13a in lipid metabolism.
February 10, 2017: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/28188182/unstable-inheritance-of-45s-rrna-genes-in-arabidopsis-thaliana
#10
Fernando A Rabanal, Viktoria Nizhynska, Terezie Mandáková, Polina Yu Novikova, Martin A Lysak, Richard Mott, Magnus Nordborg
The considerable genome size variation in Arabidopsis thaliana has been shown largely to be due to copy number variation (CNV) in 45S ribosomal RNA (rRNA) genes. Surprisingly, attempts to map this variation by means of genome-wide association studies (GWAS) failed to identify either of the two likely sources, namely the nucleolar organizer regions (NORs). Instead, GWAS implicated a trans-acting locus, as if rRNA CNV was a phenotype rather than a genotype. To explain these results, we investigated the inheritance and stability of rRNA gene copy number using the variety of genetic resources available in A...
February 10, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28186602/-analysis-of-isodicentric-ph-chromosomes-in-chronic-myeloid-leukemia-blast-crisis
#11
Qian Li, Xiaoji Lin, Ying Lin, Rongxin Yao, Wu Huang, Handong Mei, Jian Gong, Hui Chen, Ningyan Teng
OBJECTIVE: To explore the genetic and clinical characteristics of isodicentric Ph chromosomes [idic(Ph)] in lymphoid blast crisis of chronic myeloid leukemia (CML-BLC). METHODS: Bone marrow aspirates of 2 patients with CML-BLC were analyzed by R banding after 24 hours of culturing. Genomic copy number variations (CNV) were analyzed by single nucleotide polymorphism array (SNP array) in case 1. The results were confirmed with fluorescence in situ hybridization (FISH)...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28186583/-combined-g-banded-karyotyping-and-multiplex-ligation-dependent-probe-amplification-for-the-detection-of-chromosomal-abnormalities-in-fetuses-with-congenital-heart-defects
#12
Yang Liu, Jiansheng Xie, Qian Geng, Zhiyong Xu, Weiqin Wu, Fuwei Luo, Suli Li, Qin Wang, Wubin Chen, Hongxi Tan, Hu Zhang
OBJECTIVE: To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects. METHODS: The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA). RESULTS: Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28183275/diversity-and-regulatory-impact-of-copy-number-variation-in-the-primate-macaca-fascicularis
#13
Andreas R Gschwind, Anjali Singh, Ulrich Certa, Alexandre Reymond, Tobias Heckel
BACKGROUND: Copy number variations (CNVs) are a significant source of genetic diversity and commonly found in mammalian genomes. We have generated a genome-wide CNV map for Cynomolgus monkeys (Macaca fascicularis). This crab-eating macaque is the closest animal model to humans that is used in biomedical research. RESULTS: We show that Cynomolgus monkey CNVs are in general much smaller in size than gene loci and are specific to the population of origin. Genome-wide expression data from five vitally important organs demonstrates that CNVs in close proximity to transcription start sites associate strongly with expression changes...
February 10, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28180026/chromosomal-microarrays-understanding-genetics-of-neurodevelopmental-disorders-and-congenital-anomalies
#14
REVIEW
Jill A Rosenfeld, Ankita Patel
Chromosomal microarray (CMA) testing, used to identify DNA copy number variations (CNVs), has helped advance knowledge about genetics of human neurodevelopmental disease and congenital anomalies. It has aided in discovering new CNV syndromes and uncovering disease genes. It has discovered CNVs that are not fully penetrant and/or cause a spectrum of phenotypes, including intellectual disability, autism, schizophrenia, and dysmorphisms. Such CNVs can pose challenges to genetic counseling. They also have helped increase knowledge of genetic risk factors for neurodevelopmental disease and raised awareness of possible shared etiologies among these variable phenotypes...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28176757/dosage-sensitivity-is-a-major-determinant-of-human-copy-number-variant-pathogenicity
#15
Alan M Rice, Aoife McLysaght
Human copy number variants (CNVs) account for genome variation an order of magnitude larger than single-nucleotide polymorphisms. Although much of this variation has no phenotypic consequences, some variants have been associated with disease, in particular neurodevelopmental disorders. Pathogenic CNVs are typically very large and contain multiple genes, and understanding the cause of the pathogenicity remains a major challenge. Here we show that pathogenic CNVs are significantly enriched for genes involved in development and genes that have greater evolutionary copy number conservation across mammals, indicative of functional constraints...
February 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28168542/copy-number-variations-in-tilapia-genomes
#16
Bi Jun Li, Hong Lian Li, Zining Meng, Yong Zhang, Haoran Lin, Gen Hua Yue, Jun Hong Xia
Discovering the nature and pattern of genome variation is fundamental in understanding phenotypic diversity among populations. Although several millions of single nucleotide polymorphisms (SNPs) have been discovered in tilapia, the genome-wide characterization of larger structural variants, such as copy number variation (CNV) regions has not been carried out yet. We conducted a genome-wide scan for CNVs in 47 individuals from three tilapia populations. Based on 254 Gb of high-quality paired-end sequencing reads, we identified 4642 distinct high-confidence CNVs...
February 6, 2017: Marine Biotechnology
https://www.readbyqxmd.com/read/28161830/combined-vegf-and-pdgf-inhibition-for-neovascular-amd-anti-angiogenic-properties-of-axitinib-on-human-endothelial-cells-and-pericytes-in-vitro
#17
Jakob Siedlecki, Christian Wertheimer, Armin Wolf, Raffael Liegl, Claudia Priglinger, Siegfried Priglinger, Kirsten Eibl-Lindner
PURPOSE: Drugs currently approved for neovascular age-related macular degeneration (nAMD) offer anti-VEGF monotherapy only. Platelet-derived growth factor (PDGF) signaling is pivotal to pericyte-induced stabilization of choroidal neovascularizations (CNV), and causes partial anti-VEGF resistance. No combination therapy for VEGF and PDGF has been approved yet. Axitinib is a tyrosine kinase inhibitor interfering with VEGF and PDGF signaling, and has been approved for the treatment of renal cell carcinoma...
February 4, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28154514/identification-of-a-copy-number-variation-on-chromosome-20q13-12-associated-with-osteoporotic-fractures-in-the-korean-population
#18
Tae-Joon Park, Mi Yeong Hwang, Sanghoon Moon, Joo-Yeon Hwang, Min Jin Go, Bong-Jo Kim
Osteoporotic fractures (OFs) are critical hard outcomes of osteoporosis and are characterized by decreased bone strength induced by low bone density and microarchitectural deterioration in bone tissue. Most OFs cause acute pain, hospitalization, immobilization, and slow recovery in patients and are associated with increased mortality. A variety of genetic studies have suggested associations of genetic variants with the risk of OF. Genome-wide association studies have reported various single-nucleotide polymorphisms and copy number variations (CNVs) in European and Asian populations...
December 2016: Genomics & Informatics
https://www.readbyqxmd.com/read/28152582/contribution-of-maternal-copy-number-variations-to-false-positive-fetal-trisomies-detected-by-noninvasive-prenatal-testing
#19
Xiya Zhou, Lili Sui, Yalan Xu, Yijun Song, Qingwei Qi, Jianguang Zhang, Hongmin Zhu, Huaiyu Sun, Feng Tian, Mengnan Xu, David S Cram, Juntao Liu
OBJECTIVE: The aim of the study was to determine the contribution and significance of maternal copy number variations (CNVs) to false positive NIPT trisomy results. METHODS: A total of 112,021 patients were referred for NIPT. Fetal aneuploidy testing was performed using low coverage massively parallel sequencing and results reported as chromosome Z-scores. Copy number variation sequencing (CNV-Seq) was used to detect maternal DNA CNVs. RESULTS: Confirmatory amniocentesis and karyotyping of 563 of 781 patients (72%) receiving a positive trisomy result revealed 489 true and 74 false positives...
February 2, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28147232/use-of-ubiquitous-highly-heterozygous-copy-number-variants-and-digital-droplet-pcr-to-monitor-chimerism-after-allogeneic-haematopoietic-stem-cell-transplantation
#20
John B Whitlam, Ling Ling, Michael Swain, Tom Harrington, Oksana Mirochnik, Ian Brooks, Sara Cronin, Jackie Challis, Vida Petrovic, Damien L Bruno, Francoise Mechinaud, Rachel Conyers, Howard Slater
Chimerism analysis has an important role in the management of allogeneic haematopoietic stem cell transplantation. It informs response to disease relapse, graft rejection and graft-versus-host disease. We have developed a method for chimerism analysis using ubiquitous copy number variation (CNV), which has the benefit of a "negative background" against which multiple independent informative markers are absolutely quantified using digital droplet PCR. A panel of up to 38 CNV markers with homozygous deletion frequencies of approximately 0...
January 29, 2017: Experimental Hematology
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