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https://www.readbyqxmd.com/read/28095127/association-of-the-dna-repair-smug1-rs3087404-polymorphism-and-its-interaction-with-high-sensitivity-c-reactive-protein-for-age-related-macular-degeneration-in-iranian-patients
#1
Mortaza Bonyadi, Faride Mehdizadeh, Mohammad Hossein Jabbarpoor Bonyadi, Masoud Soheilian, Alireza Javadzadeh, Mehdi Yaseri
BACKGROUND: Age-related macular degeneration (AMD) is a complex disease and recently the role of DNA repairing genes in its susceptibility has been studied. It has been hypothesized that polymorphism in DNA repair system genes reduce the capacity to repair DNA damages which may lead to a greater susceptibility to AMD. C-reactive protein (CRP) production is shown to enhance inflammatory processes by increasing oxidative stress and inducing DNA damage. We planned to evaluate the possible association of SMUG1 variants and their possible interaction with high sensitivity CRP levels in AMD...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28094305/association-of-the-intestinal-microbiome-with-the-development-of-neovascular-age-related-macular-degeneration
#2
Martin S Zinkernagel, Denise C Zysset-Burri, Irene Keller, Lieselotte E Berger, Alexander B Leichtle, Carlo R Largiadèr, Georg M Fiedler, Sebastian Wolf
Age-related macular degeneration (AMD) is the most frequent cause of blindness in the elderly. There is evidence that nutrition, inflammation and genetic risk factors play an important role in the development of AMD. Recent studies suggest that the composition of the intestinal microbiome is associated with metabolic diseases through modulation of inflammation and host metabolism. To investigate whether compositional and functional alterations of the intestinal microbiome are associated with AMD, we sequenced the gut metagenomes of patients with AMD and controls...
January 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28086806/age-related-macular-degeneration-associated-polymorphism-rs10490924-in-arms2-results-in-deficiency-of-a-complement-activator
#3
Sven Micklisch, Yuchen Lin, Saskia Jacob, Marcus Karlstetter, Katharina Dannhausen, Prasad Dasari, Monika von der Heide, Hans-Martin Dahse, Lisa Schmölz, Felix Grassmann, Medhanie Alene, Sascha Fauser, Harald Neumann, Stefan Lorkowski, Diana Pauly, Bernhard H Weber, Antonia M Joussen, Thomas Langmann, Peter F Zipfel, Christine Skerka
BACKGROUND: Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. The polymorphism rs10490924 in the ARMS2 gene is highly associated with AMD and linked to an indel mutation (del443ins54), the latter inducing mRNA instability. At present, the function of the ARMS2 protein, the exact cellular sources in the retina and the biological consequences of the rs10490924 polymorphism are unclear. METHODS: Recombinant ARMS2 was expressed in Pichia pastoris, and protein functions were studied regarding cell surface binding and complement activation in human serum using fluoresence-activated cell sorting (FACS) as well as laser scanning microscopy (LSM)...
January 5, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28053662/development-of-a-genome-editing-crispr-cas9-system-in-thermophilic-fungal-myceliophthora-species-and-its-application-to-hyper-cellulase-production-strain-engineering
#4
Qian Liu, Ranran Gao, Jingen Li, Liangcai Lin, Junqi Zhao, Wenliang Sun, Chaoguang Tian
BACKGROUND: Over the past 3 years, the CRISPR/Cas9 system has revolutionized the field of genome engineering. However, its application has not yet been validated in thermophilic fungi. Myceliophthora thermophila, an important thermophilic biomass-degrading fungus, has attracted industrial interest for the production of efficient thermostable enzymes. Genetic manipulation of Myceliophthora is crucial for metabolic engineering and to unravel the mechanism of lignocellulose deconstruction...
2017: Biotechnology for Biofuels
https://www.readbyqxmd.com/read/28029444/associations-between-serum-vitamin-d-and-genetic-variants-in-vitamin-d-pathways-and-age-related-macular-degeneration-in-the-european-eye-study
#5
Gareth J McKay, Ian S Young, Ann McGinty, Graham C G Bentham, Usha Chakravarthy, Mati Rahu, Johan Seland, Gisele Soubrane, Laura Tomazzoli, Fotis Topouzis, Jesus Vioque, Paulus T V M de Jong, Astrid E Fletcher
PURPOSE: To study associations between early and late age-related macular degeneration (AMD) and neovascular AMD (nvAMD) with serum 25-hydroxy vitamin D (25(OH)D) and genetic variants in vitamin D pathway genes. DESIGN: Population-based, cross-sectional study in a random sample aged 65 years or older from 7 European countries. PARTICIPANTS: Of 4753 participants, 4496 (2028 men and 2468 women), with a mean age of 73 years, provided a blood sample; 2137 had no signs of AMD, 2209 had early AMD, and 150 had late AMD, of whom 104 had nvAMD...
October 28, 2016: Ophthalmology
https://www.readbyqxmd.com/read/28026019/activating-the-akt2-nf%C3%AE%C2%BAb-lcn-2-axis-elicits-an-inflammatory-response-in-age-related-macular-degeneration
#6
Sayan Ghosh, Peng Shang, Meysam Yazdankhah, Imran Bhutto, Stacey Hose, Sandra R Montezuma, Tianqi Luo, Sreya Chattopadhyay, Jiang Qian, Gerard A Lutty, Deborah A Ferrington, J Samuel Zigler, Debasish Sinha
Age-related macular degeneration (AMD) is a complex and progressive degenerative eye disease resulting in severe loss of central vision. Recent evidence indicates that immune system dysregulation could contribute to the development of AMD. We hypothesize that defective lysosome-mediated clearance causes accumulation of waste products in the retinal pigmented epithelium (RPE), activating the immune system and leading to retinal tissue injury and AMD. We have generated unique genetically engineered mice in which lysosome-mediated clearance (both by phagocytosis and autophagy) in RPE cells is compromised, causing development of features of early AMD...
December 27, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/28002601/effect-of-arms2-gene-polymorphism-on-intravitreal-ranibizumab-treatment-for-neovascular-age-related-macular-degeneration
#7
H Bardak, Y Bardak, Y Ercalik, E Turkseven Kumral, S Imamoglu, M Gunay, H Ozbas, O Bagci
Age-related macular degeneration (AMD) is a leading cause of blindness in developed countries. The ARMS2 gene has been found to be associated with AMD. Currently, intravitreal ranibizumab (IVR) treatment is one of the widely used treatments for neovascular AMD. The aim of this study was to investigate the association between the genotype of ARMS2 rs10490924 polymorphism and IVR treatment responsiveness in patients with neovascular AMD. The study included 39 patients with advanced neovascular AMD (patient group) and 250 healthy individuals with exome sequencing data (control group)...
December 19, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27966779/serum-levels-of-timp-3-lipc-ier3-and-slc16a8-in-cfh-negative-amd-cases
#8
Kaushal Sharma, Rahul Tyagi, Ramandeep Singh, Suresh Kumar Sharma, Akshay Anand
AMD is a complex eye disease predominantly occurring in aged population. Till now about 53 genetic loci have been found to be associated with the AMD pathology. AMD pathogenesis is being increasingly known to progress through mechanisms independent of the CFH dependent pathway. Therefore, our aim for current study was to examine the genes by analyzing their expression levels in AMD. We recruited about 50 AMD and same number of age matched controls. We analysed the CFH duplication and deletion by multiplex ligation probe amplification (MLPA) and found no duplication and deletion in CFH gene in AMD patients...
December 14, 2016: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/27965669/complement-regulator-fhr-3-is-elevated-either-locally-or-systemically-in-a-selection-of-autoimmune-diseases
#9
Nicole Schäfer, Antje Grosche, Joerg Reinders, Stefanie M Hauck, Richard B Pouw, Taco W Kuijpers, Diana Wouters, Boris Ehrenstein, Volker Enzmann, Peter F Zipfel, Christine Skerka, Diana Pauly
The human complement factor H-related protein-3 (FHR-3) is a soluble regulator of the complement system. Homozygous cfhr3/1 deletion is a genetic risk factor for the autoimmune form of atypical hemolytic-uremic syndrome (aHUS), while also found to be protective in age-related macular degeneration (AMD). The precise function of FHR-3 remains to be fully characterized. We generated four mouse monoclonal antibodies (mAbs) for FHR-3 (RETC) without cross-reactivity to the complement factor H (FH)-family. These antibodies detected FHR-3 from human serum with a mean concentration of 1 μg/mL...
2016: Frontiers in Immunology
https://www.readbyqxmd.com/read/27939104/the-complement-system-in-age-related-macular-degeneration-a-review-of-rare-genetic-variants-and-implications-for-personalized-treatment
#10
Maartje J Geerlings, Eiko K de Jong, Anneke I den Hollander
Age-related macular degeneration (AMD) is a progressive retinal disease and the major cause of irreversible vision loss in the elderly. Numerous studies have found both common and rare genetic variants in the complement pathway to play a role in the pathogenesis of AMD. In this review we provide an overview of rare variants identified in AMD patients, and summarize the functional consequences of rare genetic variation in complement genes on the complement system. Finally, we discuss the relevance of this work in light of ongoing clinical trials that study the effectiveness of complement inhibitors against AMD...
December 6, 2016: Molecular Immunology
https://www.readbyqxmd.com/read/27928964/hot-topics-in-pharmacogenetics-of-age-related-macular-degeneration
#11
Stephen G Schwartz, Milam A Brantley, Jaclyn L Kovach, Andrzej Grzybowski
Age-related macular degeneration (AMD) is a leading cause of irreversible visual loss and is primarily treated with nutritional supplementation as well as with anti-vascular endothelial growth factor (VEGF) agents for certain patients with neovascular disease. AMD is a complex disease with both genetic and environmental risk factors. In addition, treatment outcomes from nutritional supplementation and anti-VEGF agents vary considerably. Therefore, it is reasonable to suspect that there may be pharmacogenetic influences on these treatments...
December 8, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27918759/the-functional-effect-of-rare-variants-in-complement-genes-on-c3b-degradation-in-patients-with-age-related-macular-degeneration
#12
Maartje J Geerlings, Mariann Kremlitzka, Bjorn Bakker, Sara C Nilsson, Nicole T Saksens, Yara T Lechanteur, Marc Pauper, Jordi Corominas, Sascha Fauser, Carel B Hoyng, Anna M Blom, Eiko K de Jong, Anneke I den Hollander
Importance: In age-related macular degeneration (AMD), rare variants in the complement system have been described, but their functional consequences remain largely unexplored. Objectives: To identify new rare variants in complement genes and determine the functional effect of identified variants on complement levels and complement regulation in serum samples from carriers and noncarriers. Design, Setting, and Participants: This study evaluated affected (n = 114) and unaffected (n = 60) members of 22 families with AMD and a case-control cohort consisting of 1831 unrelated patients with AMD and 1367 control individuals from the European Genetic Database from March 29, 2006, to April 26, 2013, in Nijmegen, the Netherlands, and Cologne, Germany...
January 1, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/27903086/the-association-of-smokeless-tobacco-use-and-pack-years-of-smokeless-tobacco-with-age-related-macular-degeneration-in-indian-population
#13
Sangeetha Srinvasan, Gayathri Swaminathan, Vaitheeswaran Kulothungan, Tarun Sharma, Rajiv Raman
PURPOSE: To explore the association of use and the influence of pack-year use of smokeless tobacco versus no use with that of early and late age-related macular degeneration (AMD) in rural and urban south Indian population. We hypothesized that the use and pack-years of use would be significantly associated with both early and late AMD. We therefore sought to examine subjects who gave a history of using smokeless tobacco and we quantified the usage as pack-years, to examine the association with that of early and late AMD...
November 30, 2016: Cutaneous and Ocular Toxicology
https://www.readbyqxmd.com/read/27902695/text-mining-genotype-phenotype-relationships-from-biomedical-literature-for-database-curation-and-precision-medicine
#14
Ayush Singhal, Michael Simmons, Zhiyong Lu
The practice of precision medicine will ultimately require databases of genes and mutations for healthcare providers to reference in order to understand the clinical implications of each patient's genetic makeup. Although the highest quality databases require manual curation, text mining tools can facilitate the curation process, increasing accuracy, coverage, and productivity. However, to date there are no available text mining tools that offer high-accuracy performance for extracting such triplets from biomedical literature...
November 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27902638/the-pathophysiology-of-geographic-atrophy-secondary-to-age-related-macular-degeneration-and-the-complement-pathway-as-a-therapeutic-target
#15
David S Boyer, Ursula Schmidt-Erfurth, Menno van Lookeren Campagne, Erin C Henry, Christopher Brittain
PURPOSE: Geographic atrophy (GA) is an advanced, vision-threatening form of age-related macular degeneration (AMD) affecting approximately five million individuals worldwide. To date, there are no approved therapeutics for GA treatment; however, several are in clinical trials. This review focuses on the pathophysiology of GA, particularly the role of complement cascade dysregulation and emerging therapies targeting the complement cascade. METHODS: Primary literature search on PubMed for GA, complement cascade in age-related macular degeneration...
November 29, 2016: Retina
https://www.readbyqxmd.com/read/27901647/a-decade-of-age-related-macular-degeneration-risk-models-what-have-we-learned-from-them-and-where-are-we-going
#16
Michael Zhang, Paul N Baird
The genomic revolution has revealed the complexity of multifactorial diseases, making the development of effective diagnostics extremely challenging. In turn, the prospect of precision medicine as applied through targeted therapeutic treatments continues to remain largely elusive. Age-related macular degeneration (AMD) as a complex disease falls under this category, despite it being one of the most well characterized multifactorial diseases. This reflects both the extent of identified genetic components and known environmental risk factors...
November 30, 2016: Ophthalmic Genetics
https://www.readbyqxmd.com/read/27881906/genetic-and-immunohistochemical-analysis-of-hspa5-in-mouse-and-human-retinas
#17
Sumana R Chintalapudi, XiaoFei Wang, Huiling Li, Yin H Chan Lau, Robert W Williams, Monica M Jablonski
PURPOSE: Photoreceptor degenerative diseases are among the leading causes of vision loss. Although the causative genetic mutations are often known, mechanisms leading to photoreceptor degeneration remain poorly defined. We have previously demonstrated that the photoreceptor membrane-associated protein XAP-1 antigen is a product of the HSPA5 gene. In this study, we used systems genetic methods, statistical modeling, and immunostaining to identify and analyze candidate genes that modulate Hspa5 expression in the retina...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27879347/recombinant-haplotypes-narrow-the-arms2-htra1-association-signal-for-age-related-macular-degeneration
#18
Felix Grassmann, Iris M Heid, Bernhard H F Weber
Age-related macular degeneration (AMD) is the leading cause of blindness in ageing societies and is caused by both environmental and genetic factors. The strongest genetic signal for AMD with odds ratios of up to 2.8 per adverse allele was found previously to center over two genes, ARMS2 and HTRA1 on 10q26, although with little knowledge as to the true functionally relevant gene or genetic variation. Due to extensive linkage disequilibrium (LD) at this locus, it was long assumed that the broad association signal cannot be dissected by statistical means...
November 22, 2016: Genetics
https://www.readbyqxmd.com/read/27866147/benefits-potential-harms-and-optimal-use-of-nutritional-supplementation-for-preventing-progression-of-age-related-macular-degeneration
#19
REVIEW
Carlos H Rojas-Fernandez, Kevin Tyber
OBJECTIVE: To briefly review age-related macular degeneration (AMD), the main findings from the Age Related Eye Disease Study (AREDS) report number 8 on the use of nutritional supplements for AMD, and to focus on data suggesting that supplement use should be guided using genetic testing of AMD risk genes. DATA SOURCES: A literature search (January 2001 through October 26, 2016) was conducted using MEDLINE and the following MeSH terms: Antioxidants/therapeutic use, Genotype, Macular Degeneration/drug therapy, Macular degeneration/genetics, Dietary Supplements, Proteins/genetics, and Zinc Compounds/therapeutic use Bibliographies of publications identified were also reviewed...
November 19, 2016: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/27832277/progression-rate-from-intermediate-to-advanced-age-related-macular-degeneration-is-correlated-with-the-number-of-risk-alleles-at-the-cfh-locus
#20
Rebecca J Sardell, Patrice J Persad, Samuel S Pan, Patrice Whitehead, Larry D Adams, Reneé A Laux, Jorge A Fortun, Milam A Brantley, Jaclyn L Kovach, Stephen G Schwartz, Anita Agarwal, Jonathan L Haines, William K Scott, Margaret A Pericak-Vance
Purpose: Progression rate of age-related macular degeneration (AMD) varies substantially, yet its association with genetic variation has not been widely examined. Methods: We tested whether progression rate from intermediate AMD to geographic atrophy (GA) or choroidal neovascularization (CNV) was correlated with genotype at seven single nucleotide polymorphisms (SNPs) in the four genes most strongly associated with risk of advanced AMD. Cox proportional hazards survival models examined the association between progression time and SNP genotype while adjusting for age and sex and accounting for variable follow-up time, right censored data, and repeated measures (left and right eyes)...
November 1, 2016: Investigative Ophthalmology & Visual Science
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