keyword
MENU ▼
Read by QxMD icon Read
search

Amd genetic

keyword
https://www.readbyqxmd.com/read/28402189/going-non-viral-the-sleeping-beauty-transposon-system-breaks-on-through-to-the-clinical-side
#1
Michael Hudecek, Zsuzsanna Izsvák, Sandra Johnen, Matthias Renner, Gabriele Thumann, Zoltán Ivics
Molecular medicine has entered a high-tech age that provides curative treatments of complex genetic diseases through genetically engineered cellular medicinal products. Their clinical implementation requires the ability to stably integrate genetic information through gene transfer vectors in a safe, effective and economically viable manner. The latest generation of Sleeping Beauty (SB) transposon vectors fulfills these requirements, and may overcome limitations associated with viral gene transfer vectors and transient non-viral gene delivery approaches that are prevalent in ongoing pre-clinical and translational research...
April 12, 2017: Critical Reviews in Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28399268/vitreomacular-adhesion-and-its-association-with-age-related-macular-degeneration-in-a-population-based-setting-the-alienor-study
#2
Sarra Gattoussi, Audrey Cougnard-Grégoire, Marie-Noëlle Delyfer, Marie-Bénédicte Rougier, Cédric Schweitzer, Cécile Delcourt, Jean-François Korobelnik
Purpose: The purpose of this study was to describe vitreomacular adhesion (VMA), diagnosed with spectral-domain optical coherence tomography (SD-OCT), its risk factors, and its association with AMD in a population-based study of French elderly subjects. Methods: Six hundred twenty-two of 624 (99.7%) participants of the Alienor study (Bordeaux, France), ≥75 years of age, had gradable SD-OCT scans of the macula in at least one eye. VMA was defined as visible perifoveal vitreous separation with remaining vitreomacular attachment and unperturbed foveal morphologic features...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28397307/genetic-variants-in-micrornas-and-their-binding-sites-within-gene-3-utrs-associate-with-susceptibility-to-age-related-macular-degeneration-amd
#3
Mohsen Ghanbari, Stefan J Erkeland, Lei Xu, Johanna M Colijn, Oscar H Franco, Abbas Dehghan, Caroline C W Klaver, Magda A Meester-Smoor
Age-related macular degeneration (AMD), the leading cause of blindness in the elderly, is a complex disease that results from multiple genetic and environmental factors. MicroRNAs (miRNAs) are small non-coding RNAs that post-transcriptionally regulate target mRNAs and are frequently implicated in human diseases. Here, we investigated the association of genetic variants in miRNAs and miRNA-binding sites within gene 3'UTRs with AMD using data from the largest AMD genome-wide association study. First, we identified three variants in miRNAs significantly associated with AMD...
April 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28377496/ferrochelatase-is-a-therapeutic-target-for-ocular-neovascularization
#4
Halesha D Basavarajappa, Rania S Sulaiman, Xiaoping Qi, Trupti Shetty, Sardar Sheik Pran Babu, Kamakshi L Sishtla, Bit Lee, Judith Quigley, Sameerah Alkhairy, Christian M Briggs, Kamna Gupta, Buyun Tang, Mehdi Shadmand, Maria B Grant, Michael E Boulton, Seung-Yong Seo, Timothy W Corson
Ocular neovascularization underlies major blinding eye diseases such as "wet" age-related macular degeneration (AMD). Despite the successes of treatments targeting the vascular endothelial growth factor (VEGF) pathway, resistant and refractory patient populations necessitate discovery of new therapeutic targets. Using a forward chemical genetic approach, we identified the heme synthesis enzyme ferrochelatase (FECH) as necessary for angiogenesis in vitro and in vivo FECH is overexpressed in wet AMD eyes and murine choroidal neovascularization; siRNA knockdown of Fech or partial loss of enzymatic function in the Fech(m1Pas) mouse model reduces choroidal neovascularization...
April 4, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28347358/genetic-pleiotropy-between-age-related-macular-degeneration-and-16-complex-diseases-and-traits
#5
Felix Grassmann, Christina Kiel, Martina E Zimmermann, Mathias Gorski, Veronika Grassmann, Klaus Stark, Iris M Heid, Bernhard H F Weber
BACKGROUND: Age-related macular degeneration (AMD) is a common condition of vision loss with disease development strongly influenced by environmental and genetic factors. Recently, 34 loci were associated with AMD at genome-wide significance. So far, little is known about a genetic overlap between AMD and other complex diseases or disease-relevant traits. METHODS: For each of 60 complex diseases/traits with publicly available genome-wide significant association data, the lead genetic variant per independent locus was extracted and a genetic score was calculated for each disease/trait as the weighted sum of risk alleles...
March 27, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28343170/mirnas-single-nucleotide-polymorphisms-snps-and-age-related-macular-degeneration-amd
#6
REVIEW
John Paul SanGiovanni, Peter M SanGiovanni, Przemysław Sapieha, Vincent De Guire
Advanced age-related macular degeneration (AAMD) is a complex sight-threating disease of public health significance. Micro RNAs (miRNAs) have been proposed as biomarkers for AAMD. The presence of certain single nucleotide polymorphisms (SNPs) may influence the explanatory value of these biomarkers. Here we present findings from an integrated approach used to determine whether AAMD-associated SNPs have the capacity to influence miRNA-mRNA pairing and, if so, to what extent such pairing may be manifested in a discrete AAMD transcriptome...
May 1, 2017: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/28341650/bivariate-analysis-of-age-related-macular-degeneration-progression-using-genetic-risk-scores
#7
Ying Ding, Yi Liu, Qi Yan, Lars G Fritsche, Richard J Cook, Traci Clemons, Rinki Ratnapriya, Michael L Klein, Gonçalo R Abecasis, Anand Swaroop, Emily Y Chew, Daniel E Weeks, Wei Chen
Age-related macular degeneration (AMD) is a leading cause of blindness in the developed world. While many AMD susceptibility variants have been identified, their influence on AMD progression has not been elucidated. Using data from two large clinical trials, Age-Related Eye Disease Study (AREDS) and AREDS2, we evaluated the effects of 34 known risk variants on disease progression. In doing so, we calculated the eye-level time-to-late-AMD and modeled them using a bivariate survival analysis approach, appropriately accounting for between-eye correlation...
March 24, 2017: Genetics
https://www.readbyqxmd.com/read/28332910/association-between-dietary-xanthophyll-lutein-and-zeaxanthin-intake-and-early-age-related-macular-degeneration-the-atherosclerosis-risk-in-communities-study
#8
Henry Lin, Julie A Mares, Michael J LaMonte, William E Brady, Michelle W Sahli, Ronald Klein, Barbara E K Klein, Jing Nie, Amy E Millen
PURPOSE: To examine the association between xanthophyll intake and prevalent early age-related macular degeneration (AMD) using data from the Atherosclerosis Risk in Communities Study (n = 10,295). Potential effect modification by genetic polymorphisms and biomarkers of high-density lipoprotein (HDL) metabolism was explored. METHODS: Xanthophyll intake was assessed at visit 1 (1987-1989) using food frequency questionnaires. Prevalent early AMD was assessed at visit 3 (1993-1995) via retinal photographs...
March 23, 2017: Ophthalmic Epidemiology
https://www.readbyqxmd.com/read/28260367/-the-pharmacogenomics-of-cfh-y402h-and-wet-age-related-macular-degeneration
#9
L L Chen, Y Y Chen
Age-related macular degeneration(AMD) is one of the main leading causes of irreversible vision damage in patients over 50 years old. Genetic factors play an important role in the occurrence and development of AMD. Since the significant correlation between complement factor H (CFH) gene and AMD was found, the pharmacogenomics of CFH polymorphism was paid close attention by academic circles. Among which, studies concerning CFH Y402H were more deeply. Studies have found CFH Y402H genotypes might lead to differences toward the outcome of PDT and anti-VEGF treatment...
February 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/28251353/prevalence-and-characteristics-of-pseudodrusen-subtypes-in-advanced-age-related-macular-degeneration
#10
Taiyo Shijo, Yoichi Sakurada, Seigo Yoneyama, Atsushi Sugiyama, Wataru Kikushima, Naohiko Tanabe, Hiroyuki Iijima
PURPOSE: The purpose of our study was to investigate the clinical and genetic characteristics of pseudodrusen subtypes and their incidence in advanced age-related macular degeneration (AMD). METHODS: We studied 84 eyes from 84 patients with pseudodrusen associated with advanced AMD, including typical AMD, polypoidal choroidal vasculopathy (PCV), retinal angiomatous proliferation (RAP), and geographic atrophy (GA). Multiple imaging modalities, including color fundus photography, spectral-domain optical coherence tomography (SD-OCT), near-infrared reflectance, and fundus autofluorescence, were employed to diagnose pseudodrusen and its subtypes...
March 1, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28228273/compliments-of-factor-h-what-s-in-it-for-amd
#11
Mary J Mattapallil, Rachel R Caspi
Genetic variations in complement factor H (CFH) confer greater risk for age-related macular degeneration (AMD). In this issue of Immunity, Calippe et al. (2017) uncover a non-canonical role for CFH in the inhibition of mononuclear phagocyte elimination from sub-retinal lesions, providing insight into the pathophysiology of AMD associated with CFH variants.
February 21, 2017: Immunity
https://www.readbyqxmd.com/read/28209587/genome-surgery-using-cas9-ribonucleoproteins-for-the-treatment-of-age-related-macular-degeneration
#12
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...
March 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
#13
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
#14
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
#15
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
#16
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...
March 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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
23796
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"