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https://www.readbyqxmd.com/read/28525906/copy-number-variations-of-circulating-cell-free-dna-in-urothelial-carcinoma-of-the-bladder-patients-treated-with-radical-cystectomy-a-prospective-study
#1
Armin Soave, Felix K-H Chun, Timo Hillebrand, Michael Rink, Lars Weisbach, Bettina Steinbach, Margit Fisch, Klaus Pantel, Heidi Schwarzenbach
The aim of the present study was to establish a rapid profiling method using multiplex ligation-dependent probe amplification (MLPA) and characterize copy number variations (CNV) in circulating, cell-free DNA (cfDNA) in 85 urothelial carcinoma of the bladder (UCB) patients treated with radical cystectomy (RC). MLPA was tested for the use of cfDNA extracted from serum and plasma by various commercial extraction kits. Eighteen probes served as reference to control denaturation, ligation and amplification efficiency...
May 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28514814/-possibilities-and-limitations-of-oct-angiography-in-patients-with-central-serous-chorioretinopathy
#2
B Cakir, M Reich, S J Lang, A Bühler, A Stahl, D Böhringer, H Agostini, C Lange
Purpose Central serous chorioretinopathy (CSC) is a commonly acquired maculopathy characterized by the accumulation of subretinal fluid at the posterior pole. This study aims to analyze optical coherence tomography angiography (OCTA) findings in patients with acute and chronic CSC and to compare them to conventional imaging methods. Methods A series of 43 consecutive eyes of 29 patients diagnosed with CSC and 18 eyes of 9 healthy control subjects were included in this retrospective study. The OCTA images were assessed and compared to conventional fluorescence (FAG) and indocyanine green angiography (ICG)...
May 17, 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28513493/inflammatory-choroidal-neovascularization-in-indian-eyes-etiology-clinical-features-and-outcomes-to-anti-vascular-endothelial-growth-factor
#3
Rupak Roy, Kumar Saurabh, Aditya Bansal, Amitabh Kumar, Anindya Kishore Majumdar, Swakshyar Saumya Paul
BACKGROUND AND OBJECTIVES: The aim was to study the clinical profile of inflammatory choroidal neovascularization (CNV) and its treatment response to intravitreal bevacizumab or ranibizumab on pro re nata (PRN) basis in Indian eyes. MATERIALS AND METHODS: This was a retrospective case series of consecutive patients with inflammatory CNV treated with anti-vascular endothelial growth factor (anti-VEGF) in a tertiary eye care center in Eastern India between 2009 and 2014...
April 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28508085/intragenic-dok7-deletion-detected-by-whole-genome-sequencing-in-congenital-myasthenic-syndromes
#4
Yoshiteru Azuma, Ana Töpf, Teresinha Evangelista, Paulo José Lorenzoni, Andreas Roos, Pedro Viana, Hidehito Inagaki, Hiroki Kurahashi, Hanns Lochmüller
OBJECTIVE: To identify the genetic cause in a patient affected by ptosis and exercise-induced muscle weakness and diagnosed with congenital myasthenic syndromes (CMS) using whole-genome sequencing (WGS). METHODS: Candidate gene screening and WGS analysis were performed in the case. Allele-specific PCR was subsequently performed to confirm the copy number variation (CNV) that was suspected from the WGS results. RESULTS: In addition to the previously reported frameshift mutation c...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28507561/deletion-extents-are-not-the-cause-of-clinical-variability-in-22q11-2-deletion-syndrome-does-the-interaction-between-dgcr8-and-mirna-cnvs-play-a-major-role
#5
Veronica Bertini, Alessia Azzarà, Annalisa Legitimo, Roberta Milone, Roberta Battini, Rita Consolini, Angelo Valetto
In humans, the most common genomic disorder is the hemizygous deletion of the chromosome 22q11.2 region, that results in the "22q11.2 deletion syndrome" (22q11.2DS). A peculiarity of 22q11.2DS is its great phenotypic variability that makes this pathology a classic example of a syndrome with variable expressivity and incomplete penetrance. The reasons for this variability have not been elucidated yet, and the molecular substrates underlying the different clinical features of 22q11.2DS are still debated. A cohort of 21 patients has been analyzed by array CGH in order to detect some of the genetic differences that may influence this variability...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28506748/copy-number-variation-analysis-of-patients-with-intellectual-disability-from-north-west-spain
#6
Inés Quintela, Jesús Eirís, Carmen Gómez-Lado, Laura Pérez-Gay, David Dacruz, Raquel Cruz, Manuel Castro-Gago, Luz Míguez, Ángel Carracedo, Francisco Barros
Intellectual disability (ID) is a complex and phenotypically heterogeneous neurodevelopmental disorder characterized by significant deficits in cognitive and adaptive skills, debuting during the developmental period. In the last decade, microarray-based copy number variation (CNV) analysis has been proved as a strategy particularly useful in the discovery of loci and candidate genes associated with these phenotypes and is widely used in the clinics with a diagnostic purpose. In this study, we evaluated the usefulness of two genome-wide high density SNP microarrays -Cytogenetics Whole-Genome 2...
May 12, 2017: Gene
https://www.readbyqxmd.com/read/28503373/analysis-of-genomic-variation-in-lung-adenocarcinoma-patients-revealed-the-critical-role-of-pi3k-complex
#7
Zhao Min Deng, Lin Liu, Wen Hai Qiu, Yong Qun Zhang, Hong Yan Zhong, Ping Liao, Yun Hong Wu
BACKGROUND: Molecularly targeted therapies improved survival status of some patients with lung adenocarcinoma, which accounts for 40% of all lung cancers, and in-depth study of gene alterations is important for the personalized treatment. METHODS: The legacy archive data of clinical information and genomic variations under the project TCGA Lung Adenocarcinoma were downloaded from the GDC Data Portal using R package TCGAbiolinks. The significantly aberrant copy number variants segments were figured out using GAIA...
2017: PeerJ
https://www.readbyqxmd.com/read/28502729/improving-mutation-screening-in-patients-with-colorectal-cancer-predisposition-using-next-generation-sequencing
#8
Jean-Marc Rey, Vincent Ducros, Pascal Pujol, Qing Wang, Marie-Pierre Buisine, Hanaa Aissaoui, Thierry Maudelonde, Sylviane Olschwang
Identification of genetic alterations is important for family risk assessment in colorectal cancers. Next-generation sequencing (NGS) technologies provide useful tools for single-nucleotide and copy number variation (CNV) identification in many genes and samples simultaneously. Herein, we present the validation of current Multiplicom MASTR designs of mismatch repair combined to familial adenomatous polyposis genes in a single PCR reamplification test for eight DNA samples simultaneously on a MiSeq apparatus...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28502728/technical-validation-of-a-next-generation-sequencing-assay-for-detecting-clinically-relevant-levels-of-breast-cancer-related-single-nucleotide-variants-and-copy-number-variants-using-simulated-cell-free-dna
#9
Xin Yang, Yuxing Chu, Rui Zhang, Yanxi Han, Lucheng Zhang, Yu Fu, Dan Li, Rongxue Peng, Dongdong Li, Jiansheng Ding, Ziyang Li, Meiru Zhao, Kuo Zhang, Tian Lu, Lang Yi, Qisheng Wu, Guigao Lin, Jiehong Xie, Tao Liu, Ling Yang, Xin Yi, Jinming Li
Next-generation sequencing (NGS) is commonly used in a clinical setting for diagnostic and prognostic testing of genetic mutations to select optimal targeted therapies. Herein, we describe the development of a custom NGS assay for detecting single-nucleotide variants (SNVs) and copy number variations (CNVs) in a panel of 51 genes related to breast cancer. We designed and implemented a validation strategy in accordance with principles and guidelines developed by the Next-Generation Sequencing: Standardization of Clinical Testing work group using artificial, cell-free DNA (cfDNA) with mutant fragments prepared in a simple, rapid, and cost-effective manner...
May 11, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28501766/therapeutic-effects-of-zerumbone-in-an-alkali-burned-corneal-wound-healing-model
#10
Jong Won Kim, Hyuneui Jeong, Myeon-Sik Yang, Chae Woong Lim, Bumseok Kim
Cornea is an avascular transparent tissue. Ocular trauma caused by a corneal alkali burn induces corneal neovascularization (CNV), inflammation, and fibrosis, leading to vision loss. The purpose of this study was to examine the effects of Zerumbone (ZER) on corneal wound healing caused by alkali burns in mice. CNV was induced by alkali-burn injury in BALB/C female mice. Topical ZER (three times per day, 3μl each time, at concentrations of 5, 15, and 30μM) was applied to treat alkali-burned mouse corneas for 14 consecutive days...
May 11, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28501396/analysis-of-copy-number-variations-in-holstein-friesian-cow-genomes-based-on-whole-genome-sequence-data
#11
M Mielczarek, M Frąszczak, R Giannico, G Minozzi, John L Williams, K Wojdak-Maksymiec, J Szyda
Thirty-two whole genome DNA sequences of cows were analyzed to evaluate inter-individual variability in the distribution and length of copy number variations (CNV) and to functionally annotate CNV breakpoints. The total number of deletions per individual varied between 9,731 and 15,051, whereas the number of duplications was between 1,694 and 5,187. Most of the deletions (81%) and duplications (86%) were unique to a single cow. No relation between the pattern of variant sharing and a family relationship or disease status was found...
May 10, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28498920/copy-number-variation-of-functional-rbmy1-is-associated-with-sperm-motility-an-azoospermia-factor-linked-candidate-for-asthenozoospermia
#12
Yuanlong Yan, Xiling Yang, Yunqiang Liu, Ying Shen, Wenling Tu, Qiang Dong, Dong Yang, Yongyi Ma, Yuan Yang
STUDY QUESTION: What is the influence of copy number variation (CNV) in functional RNA binding motif protein Y-linked family 1 (RBMY1) on spermatogenic phenotypes? SUMMARY ANSWER: The RBMY1 functional copy dosage is positively correlated with sperm motility, and dosage insufficiency is an independent risk factor for asthenozoospermia. WHAT IS KNOWN ALREADY: RBMY1, a multi-copy gene expressed exclusively in the adult testis, is one of the most important candidates for male infertility in the azoospermia factor (AZF) region of the Y-chromosome...
May 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28497336/the-overlapping-spectrum-of-flat-irregular-pigment-epithelial-detachment-investigated-by-optical-coherence-tomography-angiography
#13
Francesco Pichi, Mariachiara Morara, Chiara Veronese, Antonio P Ciardella
PURPOSE: To describe the OCT angiography characteristics of flat irregular pigment epithelial detachments (PEDs), an overlapping tomographic feature of various macular disorders. METHODS: Consecutive patients with a dimpled retinal pigment epithelium profile on OCT, referred for a second opinion, were enrolled. Fluorescein (FA) and indocyanine green angiography (ICGA) were performed in all patients and compared to previous examinations, when available. In all patients, enhanced depth imaging-OCT and OCT angiography were performed upon referral and at subsequent follow-ups...
May 11, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28496995/genomic-microarray-in-intellectual-disability-the-usefulness-of-existing-systems-in-the-interpretation-of-copy-number-variation
#14
Hela Ben Khelifa, Najla Soyah, Audrey Labalme, Helene Guilbert, Damien Sanlaville, Ali Saad, Soumaya Mougou-Zerelli
Whole genome array technology is an essential tool for the detection of a large number of copy number variants (CNVs) in patients with ID and/or multiple congenital anomalies. However, the clinical significance of some microimbalances is not known. In this article, we succeeded to detect seven new variations of unknown significance (dup12p13.33, dup2p16.3, dupXq13.2, del12q24.33, dup16p13.11, trip4q22.1, and dup9p21.3), one CNV classified as known pathogenic syndrome (del22q13.31-q33), and one CNV classified as potentially pathogenic (del11q24...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28496405/temporal-dynamics-of-proactive-and-reactive-motor-inhibition
#15
Matthias Liebrand, Inga Pein, Elinor Tzvi, Ulrike M Krämer
Proactive motor inhibition refers to endogenous preparatory mechanisms facilitating action inhibition, whereas reactive motor inhibition is considered to be a sudden stopping process triggered by external signals. Previous studies were inconclusive about the temporal dynamics of involved neurocognitive processes during proactive and reactive motor control. Using electroencephalography (EEG), we investigated the time-course of proactive and reactive inhibition, measuring event-related oscillations and event-related potentials (ERPs)...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28494491/topical-delivery-of-anti-vegf-drugs-to-the-ocular-posterior-segment-using-cell-penetrating-peptides
#16
Felicity de Cogan, Lisa J Hill, Aisling Lynch, Peter J Morgan-Warren, Judith Lechner, Matthew R Berwick, Anna F A Peacock, Mei Chen, Robert A H Scott, Heping Xu, Ann Logan
Purpose: To evaluate the efficacy of anti-VEGF agents for treating choroidal neovascularization (CNV) when delivered topically using novel cell-penetrating peptides (CPPs) compared with delivery by intravitreal (ivit) injection. Methods: CPP toxicity was investigated in cell cultures. Ivit concentrations of ranibizumab and bevacizumab after topical administration were measured using ELISA. The biological efficacy of topical anti-VEGF + CPP complexes was compared with ivit anti-VEGF injections using an established model of CNV...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28494221/does-copy-number-variation-of-apol1-gene-affect-the-susceptibility-to-focal-segmental-glomerulosclerosis
#17
Ting Peng, Guisen Li, Xiang Zhong, Li Wang
BACKGROUND: APOL1 risk variants (G1 and G2) are associated with increased susceptibility to focal segmental glomerulosclerosis (FSGS) in African population. However, the two risk mutations were not found in Chinese FSGS patients. In this study, we explored the association between the copy number variation (CNV) of APOL1 gene and FSGS. METHODS: APOL1 copy number variations were detected by quantitative real-time PCR with TaqMan probes and compared between 133 FSGS patients and 123 controls...
November 2017: Renal Failure
https://www.readbyqxmd.com/read/28493086/ranibizumab-for-choroidal-neovascularization-secondary-to-pseudoxanthoma-elasticum-4-year-results-from-the-pixel-study-in-france
#18
Gérard Mimoun, Jean-Marc Ebran, Typhaine Grenet, Alain Donati, Salomon-Yves Cohen, Anne Ponthieux
PURPOSE: To evaluate the long-term effectiveness and safety of ranibizumab 0.5 mg in patients with choroidal neovascularization (CNV) secondary to pseudoxanthoma elasticum (PXE) in a real-world setting. METHODS: A descriptive, observational, multicenter study in a retrospective and prospective cohort was conducted in France that included patients who had received at least one injection of ranibizumab 0.5 mg during the period October 2011 to October 2014, for CNV secondary to PXE...
May 10, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28492410/dexamethasone-intravitreal-implant-for-choroidal-neovascularization-during-pregnancy
#19
Vittorio Capuano, Rita Serra, Hassiba Oubraham, Olivia Zambrowski, Danielle Amana, Jennifer Zerbib, Eric H Souied, Giuseppe Querques
PURPOSE: To describe the management of active choroidal neovascularization (CNV) during pregnancy with the use of a dexamethasone intravitreal implant (DXI) (Ozurdex). METHODS: Case series of active CNV treated with DXI with at least 12-month follow-up retrospectively analyzed at 2 high-volume referral centers in France. Medical records and multimodal macular imaging were evaluated. RESULTS: Three eyes of 3 patients (age 30.0 ± 3.6 years) were included...
May 10, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28492277/association-study-and-expression-analysis-of-cyp4a11-gene-copy-number-variation-in-chinese-cattle
#20
Mingjuan Yang, Jingqiao Lv, Liangzhi Zhang, Mingxun Li, Yang Zhou, Xianyong Lan, Chuzhao Lei, Hong Chen
The identification of copy number variations (CNVs) allow us to explore genomic polymorphisms. In recent years, significant progress in understanding CNVs has been made in studies of human and animals, however, association and expression studies of CNVs are still in the early stage. It was previously reported that the Cytochrome P-450 4A11 (CYP4A11) gene is located within a copy number variable region (CNVR) that encompasses quantitative trait loci (QTLs) for economic traits like meat quality and milk production...
May 11, 2017: Scientific Reports
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