X-linked juvenile retinoschisis: Clinical diagnosis, genetic analysis, and molecular mechanisms

por Molday, Robert S., Kellner, Ulrich, Weber, Bernhard H.F.
Publicado 2012

The X‐linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen‐activated protein kinase signalling and apoptosis in the retina

por Plössl, Karolina, Weber, Bernhard H.F., Friedrich, Ulrike
Publicado en J Cell Mol Med (2016)

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration

por Grassmann, Felix, Heid, Iris M., Weber, Bernhard H. F.
Publicado en Genetics (2017)

Tapping Stem Cells to Target AMD: Challenges and Prospects

por Brandl, Caroline, Grassmann, Felix, Riolfi, Julia, Weber, Bernhard H. F.
Publicado en J Clin Med (2015)

An Eye on Age-Related Macular Degeneration: The Role of MicroRNAs in Disease Pathology

por Berber, Patricia, Grassmann, Felix, Kiel, Christina, Weber, Bernhard H. F.
Publicado en Mol Diagn Ther (2016)

Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD)

por Kiel, Christina, Strunz, Tobias, Grassmann, Felix, Weber, Bernhard H. F.
Publicado en Cells (2020)

Learning from Fifteen Years of Genome-Wide Association Studies in Age-Related Macular Degeneration

por Strunz, Tobias, Kiel, Christina, Sauerbeck, Bastian L., Weber, Bernhard H. F.
Publicado en Cells (2020)

BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenoty...

por Milenkovic, Andrea, Milenkovic, Vladimir M, Wetzel, Christian H, Weber, Bernhard H F
Publicado en Hum Mol Genet (2018)

Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology

por Biasella, Fabiola, Plössl, Karolina, Karl, Claudia, Weber, Bernhard H. F., Friedrich, Ulrike
Publicado en Invest Ophthalmol Vis Sci (2020)

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

por Strunz, Tobias, Lauwen, Susette, Kiel, Christina, Hollander, Anneke den, Weber, Bernhard H. F.
Publicado en Sci Rep (2020)

Epistatic interactions of genetic loci associated with age-related macular degeneration

por Kiel, Christina, Nebauer, Christoph A., Strunz, Tobias, Stelzl, Simon, Weber, Bernhard H. F.
Publicado en Sci Rep (2021)

On the differences between mega‐ and meta‐imputation and analysis exemplified on the genetics of age‐related macular degeneration

por Gorski, Mathias, Günther, Felix, Winkler, Thomas W., Weber, Bernhard H. F., Heid, Iris M.
Publicado en Genet Epidemiol (2019)

Retinoschisin and Cardiac Glycoside Crosstalk at the Retinal Na/K-ATPase

por Schmid, Verena, Plössl, Karolina, Schmid, Carina, Bernklau, Sarah, Weber, Bernhard H. F., Friedrich, Ulrike
Publicado en Invest Ophthalmol Vis Sci (2020)

Modelling the Genetic Risk in Age-Related Macular Degeneration

por Grassmann, Felix, Fritsche, Lars G., Keilhauer, Claudia N., Heid, Iris M., Weber, Bernhard H. F.
Publicado 2012

Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate

por Fisher, Sheila A, Rivera, Andrea, Fritsche, Lars G, Babadjanova, Gulja, Petrov, Sergey, Weber, Bernhard H F
Publicado 2007

The Role of the Complement System in Age-Related Macular Degeneration

por Weber, Bernhard H. F, Issa, Peter Charbel, Pauly, Diana, Herrmann, Philipp, Grassmann, Felix, Holz, Frank G
Publicado 2014

The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy

por Milenkovic, Andrea, Schmied, Denise, Tanimoto, Naoyuki, Seeliger, Mathias W., Sparrow, Janet R., Weber, Bernhard H. F.
Publicado en Biol Open (2019)

The agonistic TSPO ligand XBD173 attenuates the glial response thereby protecting inner retinal neurons in a murine model of retinal ischemia

por Mages, Kristin, Grassmann, Felix, Jägle, Herbert, Rupprecht, Rainer, Weber, Bernhard H. F., Hauck, Stefanie M., Grosche, Antje
Publicado en J Neuroinflammation (2019)

An update on the genetics of age-related macular degeneration

por Scholl, Hendrik P.N., Fleckenstein, Monika, Issa, Peter Charbel, Keilhauer, Claudia, Holz, Frank G., Weber, Bernhard H.F.
Publicado 2007

The SERPING1 gene and age-related macular degeneration

por Allikmets, Rando, Dean, Michael, Hageman, Gregory S, Baird, Paul N, Klaver, Caroline C, Bergen, Arthur A, Weber, Bernhard H
Publicado en Lancet (2009)