Search Results - "Weber, Bernhard H F"

Systemic complement activation in age-related macular degeneration by Scholl, Hendrik P N, Charbel Issa, Peter, Walier, Maja, Janzer, Stefanie, Pollok-Kopp, Beatrix, Börncke, Florian, Fritsche, Lars G, Chong, Ngaihang V, Fimmers, Rolf, Wienker, Thomas, Holz, Frank G, Weber, Bernhard H F, Oppermann, Martin

“…Dysregulation of the alternative pathway (AP) of complement cascade has been implicated in the pathogenesis of age-related macular degeneration (AMD), the…”
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Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data by Grassmann, Felix, Weber, Bernhard H. F., Veitia, Reiner A.

“…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 (…”
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18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies by Kiel, Christina, Biasella, Fabiola, Stöhr, Heidi, Rating, Philipp, Spital, Georg, Kellner, Ulrich, Hufendiek, Karsten, Huchzermeyer, Cord, Jaegle, Herbert, Ruether, Klaus, Weber, Bernhard H. F.

“…Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are characterized by distinct genetic causes and molecular mechanisms that can…”
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Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history by Engel, Christoph, Rhiem, Kerstin, Hahnen, Eric, Loibl, Sibylle, Weber, Karsten E, Seiler, Sabine, Zachariae, Silke, Hauke, Jan, Wappenschmidt, Barbara, Waha, Anke, Blümcke, Britta, Kiechle, Marion, Meindl, Alfons, Niederacher, Dieter, Bartram, Claus R, Speiser, Dorothee, Schlegelberger, Brigitte, Arnold, Norbert, Wieacker, Peter, Leinert, Elena, Gehrig, Andrea, Briest, Susanne, Kast, Karin, Riess, Olaf, Emons, Günter, Weber, Bernhard H F, Engel, Jutta, Schmutzler, Rita K

“…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…”
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Epistatic interactions of genetic loci associated with age-related macular degeneration by Kiel, Christina, Nebauer, Christoph A., Strunz, Tobias, Stelzl, Simon, Weber, Bernhard H. F.

“…The currently largest genome-wide association study (GWAS) for age-related macular degeneration (AMD) defines disease association with genome-wide significance…”
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Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Cancer by Hauke, Jan, Horvath, Judit, Groß, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang‐Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber‐Lassalle, Nana, Weber‐Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmüller, Janine, Volk, Alexander E., Thiele, Holger, Hübbel, Verena, Nürnberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric

“…The prevalence of germ line mutations in non‐BRCA1/2 genes associated with hereditary breast cancer (BC) is low, and the role of some of these genes in BC…”
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Evaluation of serum sphingolipids and the influence of genetic risk factors in age-related macular degeneration by Pujol-Lereis, Luciana M, Liebisch, Gerhard, Schick, Tina, Lin, Yuchen, Grassmann, Felix, Uchida, Koji, Zipfel, Peter F, Fauser, Sascha, Skerka, Christine, Weber, Bernhard H F

“…Sphingolipids are bioactive molecules associated with oxidative stress, inflammation, and neurodegenerative diseases, but poorly studied in the context of…”
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Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease by Winkler, Thomas W, Grassmann, Felix, Brandl, Caroline, Kiel, Christina, Günther, Felix, Strunz, Tobias, Weidner, Lorraine, Zimmermann, Martina E, Korb, Christina A, Poplawski, Alicia, Schuster, Alexander K, Müller-Nurasyid, Martina, Peters, Annette, Rauscher, Franziska G, Elze, Tobias, Horn, Katrin, Scholz, Markus, Cañadas-Garre, Marisa, McKnight, Amy Jayne, Quinn, Nicola, Hogg, Ruth E, Küchenhoff, Helmut, Heid, Iris M, Stark, Klaus J, Weber, Bernhard H F

“…Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been…”
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A mega-analysis of expression quantitative trait loci in retinal tissue by Strunz, Tobias, Kiel, Christina, Grassmann, Felix, Ratnapriya, Rinki, Kwicklis, Madeline, Karlstetter, Marcus, Fauser, Sascha, Arend, Nicole, Swaroop, Anand, Langmann, Thomas, Wolf, Armin, Weber, Bernhard H. F

“…Significant association signals from genome-wide association studies (GWAS) point to genomic regions of interest. However, for most loci the causative genetic…”
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The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia by Mages, Kristin, Grassmann, Felix, Jägle, Herbert, Rupprecht, Rainer, Weber, Bernhard H F, Hauck, Stefanie M, Grosche, Antje

“…Ligand-driven modulation of the mitochondrial translocator protein 18 kDa (TSPO) was recently described to dampen the neuroinflammatory response of microglia…”
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QTL mapping of human retina DNA methylation identifies 87 gene-epigenome interactions in age-related macular degeneration by Advani, Jayshree, Mehta, Puja A., Hamel, Andrew R., Mehrotra, Sudeep, Kiel, Christina, Strunz, Tobias, Corso-Díaz, Ximena, Kwicklis, Madeline, van Asten, Freekje, Ratnapriya, Rinki, Chew, Emily Y., Hernandez, Dena G., Montezuma, Sandra R., Ferrington, Deborah A., Weber, Bernhard H. F., Segrè, Ayellet V., Swaroop, Anand

“…DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based DNA methylation profiles…”
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A circulating microrna profile is associated with late-stage neovascular age-related macular degeneration by Grassmann, Felix, Schoenberger, Peter G A, Brandl, Caroline, Schick, Tina, Hasler, Daniele, Meister, Gunter, Fleckenstein, Monika, Lindner, Moritz, Helbig, Horst, Fauser, Sascha, Weber, Bernhard H F

“…Age-related macular degeneration (AMD) is the leading cause of severe vision impairment in Western populations over 55 years. A growing number of gene variants…”
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Identification of the retinoschisin-binding site on the retinal Na/K-ATPase by Plössl, Karolina, Straub, Kristina, Schmid, Verena, Strunz, Franziska, Wild, Jens, Merkl, Rainer, Weber, Bernhard H F, Friedrich, Ulrike

“…X-linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy, caused by mutations in the RS1 gene which encodes the secreted protein retinoschisin…”
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Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease by Cardon, Iseline, Grobecker, Sonja, Kücükoktay, Selin, Bader, Stefanie, Jahner, Tatjana, Nothdurfter, Caroline, Koschitzki, Kevin, Berneburg, Mark, Weber, Bernhard H F, Stöhr, Heidi, Höring, Marcus, Liebisch, Gerhard, Braun, Frank, Rothammer-Hampl, Tanja, Riemenschneider, Markus J, Rupprecht, Rainer, Milenkovic, Vladimir M, Wetzel, Christian H

“…The link between mitochondria and major depressive disorder (MDD) is increasingly evident, underscored both by mitochondria's involvement in many mechanisms…”
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Clinical and genetic factors associated with progression of geographic atrophy lesions in age-related macular degeneration by Grassmann, Felix, Fleckenstein, Monika, Chew, Emily Y, Strunz, Tobias, Schmitz-Valckenberg, Steffen, Göbel, Arno P, Klein, Michael L, Ratnapriya, Rinki, Swaroop, Anand, Holz, Frank G, Weber, Bernhard H F

“…Worldwide, age-related macular degeneration (AMD) is a serious threat to vision loss in individuals over 50 years of age with a pooled prevalence of…”
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The glucocorticoid receptor as a master regulator of the Müller cell response to diabetic conditions in mice by Pfaller, Anna M, Kaplan, Lew, Carido, Madalena, Grassmann, Felix, Díaz-Lezama, Nundehui, Ghaseminejad, Farhad, Wunderlich, Kirsten A, Glänzer, Sarah, Bludau, Oliver, Pannicke, Thomas, Weber, Bernhard H F, Koch, Susanne F, Bonev, Boyan, Hauck, Stefanie M, Grosche, Antje

“…Diabetic retinopathy (DR) is considered a primarily microvascular complication of diabetes. Müller glia cells are at the centre of the retinal neurovascular…”
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Modelling the genetic risk in age-related macular degeneration by Grassmann, Felix, Fritsche, Lars G, Keilhauer, Claudia N, Heid, Iris M, Weber, Bernhard H F

“…Late-stage age-related macular degeneration (AMD) is a common sight-threatening disease of the central retina affecting approximately 1 in 30 Caucasians…”
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Effects of genetic variants in the TSPO gene on protein structure and stability by Milenkovic, Vladimir M, Bader, Stefanie, Sudria-Lopez, Daniel, Siebert, Ramona, Brandl, Caroline, Nothdurfter, Caroline, Weber, Bernhard H F, Rupprecht, Rainer, Wetzel, Christian H

“…The 18 kDa translocator protein (TSPO) is an evolutionary conserved cholesterol binding protein localized in the outer mitochondrial membrane. Expression of…”
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genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk by Yang, Rongxi, Schlehe, Bettina, Hemminki, Kari, Sutter, Christian, Bugert, Peter, Wappenschmidt, Barbara, Volkmann, Juliane, Varon, Raymonda, Weber, Bernhard H. F, Niederacher, Dieter, Arnold, Norbert, Meindl, Alfons, Bartram, Claus R, Schmutzler, Rita K, Burwinkel, Barbara

“…MicroRNAs (miRNAs) regulate pathways involved in cell differentiation, proliferation, development, and apoptosis by degradation of target mRNAs and/or…”
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Features of Age-Related Macular Degeneration in the General Adults and Their Dependency on Age, Sex, and Smoking: Results from the German KORA Study by Brandl, Caroline, Breinlich, Valentin, Stark, Klaus J, Enzinger, Sabrina, Aßenmacher, Matthias, Olden, Matthias, Grassmann, Felix, Graw, Jochen, Heier, Margit, Peters, Annette, Helbig, Horst, Küchenhoff, Helmut, Weber, Bernhard H F, Heid, Iris M

“…Age-related macular degeneration (AMD) is a vision impairing disease of the central retina characterized by early and late forms in individuals older than 50…”
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