Retinal Degeneration
Methods and Protocols
Page
%P
56 Result(s)
within
Bernhard H. F. Weber
-
Article
Open AccessQTL map** of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration
DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based DNA methylation profiles of 160 human retinas with co-measured RNA-seq and...
-
Article
Open AccessThe glucocorticoid receptor as a master regulator of the Müller cell response to diabetic conditions in mice
Diabetic retinopathy (DR) is considered a primarily microvascular complication of diabetes. Müller glia cells are at the centre of the retinal neurovascular unit and play a critical role in DR. We therefore in...
-
Article
Open AccessRetinoschisin and novel Na/K-ATPase interaction partners Kv2.1 and Kv8.2 define a growing protein complex at the inner segments of mammalian photoreceptors
The RS1 gene on Xp 22.13 encodes retinoschisin which is known to directly interact with the retinal Na/K-ATPase at the photoreceptor inner segments. Pathologic mutations in RS1 cause X-linked juvenile retinoschis...
-
Article
Open AccessEpistatic interactions of genetic loci associated with age-related macular degeneration
The currently largest genome-wide association study (GWAS) for age-related macular degeneration (AMD) defines disease association with genome-wide significance for 52 independent common and rare genetic varian...
-
Living Reference Work Entry In depth
Humangenetische Beratung und DNA-Diagnostik bei gynäkologischen Tumoren
Bei den meisten Tumorarten wird von einer erblichen Prädisposition in 5–10 % der Fälle ausgegangen. Auch für gynäkologische Krebserkrankungen gilt diese Regel, insbesondere bei Tumoren der Mammae, der Ovarien ...
-
Article
Open AccessGenome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease
Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture...
-
Article
Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genoty** microarray data
The extent of aneuploidy of the sex chromosomes increases with age in human leukocytes. Here, we re-explore the dynamics of normal loss of the Y chromosome (LOY) with age based on microarray data using two expone...
-
Article
Open AccessA transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration
Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 genomic loci. Typically, such an...
-
Article
Open AccessInvestigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women
Inherited pathogenic variants in BRCA1 and BRCA2 are the most common causes of hereditary breast and ovarian cancer (HBOC). The risk of develo** breast cancer by age 80 in women carrying a BRCA1 pathogenic vari...
-
Article
Open AccessThe agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia
Ligand-driven modulation of the mitochondrial translocator protein 18 kDa (TSPO) was recently described to dampen the neuroinflammatory response of microglia in a retinal light damage model resulting in protec...
-
Book
-
Article
Open AccessOn the impact of different approaches to classify age-related macular degeneration: Results from the German AugUR study
While age-related macular degeneration (AMD) poses an important personal and public health burden, comparing epidemiological studies on AMD is hampered by differing approaches to classify AMD. In our AugUR stu...
-
Article
Open AccessA mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver
Genome-wide association studies (GWAS) have identified numerous genetic variants in the human genome associated with diseases and traits. Nevertheless, for most loci the causative variant is still unknown. Exp...
-
Article
Open AccessPrevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history
There is no international consensus up to which age women with a diagnosis of triple-negative breast cancer (TNBC) and no family history of breast or ovarian cancer should be offered genetic testing for germline
-
Chapter and Conference Paper
Pleiotropic Effects of Risk Factors in Age-Related Macular Degeneration and Seemingly Unrelated Complex Diseases
Age-related macular degeneration (AMD) is a complex disease with both environmental and genetic factors influencing disease risk. Genome-wide case-control association studies, candidate gene analyses, and epid...
-
Article
Open AccessGenetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits
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 geno...
-
Article
Open AccessAn Eye on Age-Related Macular Degeneration: The Role of MicroRNAs in Disease Pathology
Age-related macular degeneration (AMD) is the primary cause of blindness in developed countries, and is the third leading cause worldwide. Emerging evidence suggests that beside environmental and genetic facto...
-
Article
Open AccessMultiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD)
Age-related macular degeneration (AMD) is the leading cause of vision loss in Western societies with a strong genetic component. Candidate gene studies as well as genome-wide association studies strongly impli...
-
Article
Differentiation of murine models of “negative ERG” by single and repetitive light stimuli
Marked attenuation of the single-flash electroretinographic (ERG) b-wave in the presence of a normal-amplitude or less-attenuated a-wave is commonly referred to as the “negative ERG.” The purpose of this study...
-
Article
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
Iris Heid, Gonçalo Abecasis, Sudha Iyengar and colleagues report the results of a large genome-wide association meta-analysis of macular degeneration based on over 43,000 subjects. They identify 16 new risk lo...
