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https://www.readbyqxmd.com/read/28209587/genome-surgery-using-cas9-ribonucleoproteins-for-the-treatment-of-age-related-macular-degeneration
#1
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/28191500/insights-from-genetic-model-systems-of-retinal-degeneration-role-of-epsins-in-retinal-angiogenesis-and-vegfr2-signaling
#2
Yunzhou Dong, Xue Cai, Yong Wu, Yanjun Liu, Lin Deng, Hong Chen
The retina is a light sensitive tissue that contains specialized photoreceptor cells called rods and cones which process visual signals. These signals are relayed to the brain through interneurons and the fibers of the optic nerve. The retina is susceptible to a variety of degenerative diseases, including age-related macular degeneration (AMD), diabetic retinopathy (DR), retinitis pigmentosa (RP) and other inherited retinal degenerations. In order to reveal the mechanism underlying these diseases and to find methods for the prevention/treatment of retinal degeneration, animal models have been generated to mimic human eye diseases...
January 2017: Journal of Nature and Science
https://www.readbyqxmd.com/read/28154734/nutritional-and-lifestyle-interventions-for-age-related-macular-degeneration-a-review
#3
REVIEW
Ângela Carneiro, José Paulo Andrade
Age-related macular degeneration (AMD) is the leading cause of blindness in the developed world. In this narrative review, we will summarize the nutritional interventions evaluated in numerous observational studies and a few randomized clinical trials. The AREDS and AREDS2 studies demonstrated that supplements including vitamins C and E, beta-carotene, and zinc may reduce the progression to advanced AMD, in some patients, by 25% in five years. This is one of the few nutritional supplements known to have beneficial effects in any eye disease...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28139756/simple-and-complex-retinal-dystrophies-are-associated-with-profoundly-different-disease-networks
#4
Christina Kiel, Claire Lastrucci, Philip J Luthert, Luis Serrano
Retinopathies are a group of monogenetic or complex retinal diseases associated with high unmet medical need. Monogenic disorders are caused by rare genetic variation and usually arise early in life. Other diseases, such as age-related macular degeneration (AMD), develop late in life and are considered to be of complex origin as they develop from a combination of genetic, ageing, environmental and lifestyle risk factors. Here, we contrast the underlying disease networks and pathological mechanisms of monogenic as opposed to complex retinopathies, using AMD as an example of the latter...
January 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28137479/can-innate-and-autoimmune-reactivity-forecast-early-and-advance-stages-of-age-related-macular-degeneration
#5
REVIEW
Grazyna Adamus
Age-related macular degeneration (AMD) is a major cause of central vision loss in persons over 55years of age in developed countries. AMD is a complex disease in which genetic, environmental and inflammatory factors influence its onset and progression. Elevation in serum anti-retinal autoantibodies, plasma and local activation of complement proteins of the alternative pathway, and increase in secretion of proinflammatory cytokines have been seen over the course of disease. Genetic studies of AMD patients confirmed that genetic variants affecting the alternative complement pathway have a major influence on AMD risk...
January 27, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28134357/contributions-of-age-related-alterations-of-the-retinal-pigment-epithelium-and-of-glia-to-the-amd-like-pathology-in-oxys-rats
#6
Darya V Telegina, Oyuna S Kozhevnikova, Sergey I Bayborodin, Nataliya G Kolosova
Age-related macular degeneration (AMD) is a major cause of blindness in developed countries, and the molecular pathogenesis of early events of AMD is poorly understood. It is known that age-related alterations of retinal pigment epithelium (RPE) cells and of glial reactivity are early hallmarks of AMD. Here we evaluated contributions of the age-related alterations of the RPE and of glia to the development of AMD-like retinopathy in OXYS rats. We showed that destructive alterations in RPE cells are a primary change during the development of retinopathy in OXYS rats...
January 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28128407/next-generation-sequencing-analysis-of-the-arms2-gene-in-turkish-exudative-age-related-macular-degeneration-patients
#7
H Bardak, M Gunay, Y Ercalik, Y Bardak, H Ozbas, O Bagci
Age-related macular degeneration (AMD) is the leading cause of blindness in developed countries. It is a complex disease with both genetic and environmental risk factors. To improve clinical management of this condition, it is important to develop risk assessment and prevention strategies for environmental influences, and establish a more effective treatment approach. The aim of the present study was to investigate age-related maculopathy susceptibility protein 2 (ARMS2) gene sequences among Turkish patients with exudative AMD...
January 23, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28120909/systemic-ocular-and-genetic-risk-factors-for-age-related-macular-degeneration-and-polypoidal-choroidal-vasculopathy-in-singaporeans
#8
Chui Ming Gemmy Cheung, Augustinus Laude, Ian Yeo, Shu-Pei Tan, Qiao Fan, Ranjana Mathur, Shu Yen Lee, Choi Mun Chan, Gavin Tan, Tock Han Lim, Ching-Yu Cheng, Tien Yin Wong
To examine the association of systemic, ocular and genetic risk factors in neovascular age-related macular degeneration (nAMD) in a large cohort of Asian patients, and to further compare risk factors between those with typical AMD and polypoidal choroidal vasculoapthy (PCV) subtypes. We recruited 456 cases and 1,824 controls matched for age, gender and ethnicity. Data on systemic and ocular risk factors were collected on questionnaires. In a subgroup of subjects, we included genetic data on four AMD-associated single nucleotide polymorphisms (SNPs)...
January 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28111323/cell-based-therapeutic-strategies-for-replacement-and-preservation-in-retinal-degenerative-diseases
#9
REVIEW
Melissa K Jones, Bin Lu, Sergey Girman, Shaomei Wang
Cell-based therapeutics offer diverse options for treating retinal degenerative diseases, such as age-related macular degeneration (AMD) and retinitis pigmentosa (RP). AMD is characterized by both genetic and environmental risks factors, whereas RP is mainly a monogenic disorder. Though treatments exist for some patients with neovascular AMD, a majority of retinal degenerative patients have no effective therapeutics, thus indicating a need for universal therapies to target diverse patient populations. Two main cell-based mechanistic approaches are being tested in clinical trials...
January 19, 2017: Progress in Retinal and Eye Research
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
#10
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
#11
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
#12
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
#13
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
#14
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-nuclear-factor-%C3%AE%C2%BAb-lipocalin-2-axis-elicits-an-inflammatory-response-in-age-related-macular-degeneration
#15
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 the 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
#16
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
#17
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
#18
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
#19
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
#20
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
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