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

Por Molday, Robert S., Kellner, Ulrich, Weber, Bernhard H.F.
Publicado em 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 no 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 no Genetics (2017)

Tapping Stem Cells to Target AMD: Challenges and Prospects

Por Brandl, Caroline, Grassmann, Felix, Riolfi, Julia, Weber, Bernhard H. F.
Publicado no 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 no Mol Diagn Ther (2016)

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 em 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 em 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 em 2014

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 em 2007

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency

Por Friedrich, Ulrike, Myers, Connie A., Fritsche, Lars G., Milenkovich, Andrea, Wolf, Armin, Corbo, Joseph C., Weber, Bernhard H.F.
Publicado em 2011

S156C Mutation in Tissue Inhibitor of Metalloproteinases-3 Induces Increased Angiogenesis

Por Qi, Jian Hua, Dai, Ganying, Luthert, Philip, Chaurasia, Shyam, Hollyfield, Joe, Weber, Bernhard H. F., Stöhr, Heidi, Anand-Apte, Bela
Publicado em 2009

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Por Grassmann, Felix, Kiel, Christina, Zimmermann, Martina E., Gorski, Mathias, Grassmann, Veronika, Stark, Klaus, Heid, Iris M., Weber, Bernhard H. F.
Publicado no Genome Med (2017)

A Gene Map of the Best’s Vitelliform Macular Dystrophy Region in Chromosome 11q12–q13.1

Por Stöhr, Heidi, Marquardt, Andreas, Rivera, Andrea, Cooper, Paul R., Nowak, Norma J., Shows, Thomas B., Gerhard, Daniela S., Weber, Bernhard H.F.
Publicado em 1998

CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene

Por Langmann, Thomas, Lai, Christine C. L., Weigelt, Karin, Tam, Beatrice M., Warneke-Wittstock, Regina, Moritz, Orson L., Weber, Bernhard H. F.
Publicado em 2008

Translocator protein (18 kDa) (TSPO) is expressed in reactive retinal microglia and modulates microglial inflammation and phagocytosis

Por Karlstetter, Marcus, Nothdurfter, Caroline, Aslanidis, Alexander, Moeller, Katharina, Horn, Felicitas, Scholz, Rebecca, Neumann, Harald, Weber, Bernhard H F, Rupprecht, Rainer, Langmann, Thomas
Publicado em 2014

PTHR1 Loss-of-Function Mutations in Familial, Nonsyndromic Primary Failure of Tooth Eruption

Por Decker, Eva, Stellzig-Eisenhauer, Angelika, Fiebig, Britta S., Rau, Christiane, Kress, Wolfram, Saar, Kathrin, Rüschendorf, Franz, Hubner, Norbert, Grimm, Tiemo, Weber, Bernhard H.F.
Publicado em 2008

Risk Estimation as a Decision-Making Tool for Genetic Analysis of the Breast Cancer Susceptibility Genes

Por Chang-Claude, Jenny, Becher, Heiko, Caligo, Maria, Eccles, Diana, Evans, Gareth, Haites, Neva, Hodgson, Shirley, Møller, Pål, Weber, Bernhard H. F., Stoppa-Lyonnet, Dominique
Publicado em 1999

A Novel Antibody against Human Properdin Inhibits the Alternative Complement System and Specifically Detects Properdin from Blood Samples

Por Pauly, Diana, Nagel, Benedikt M., Reinders, Jörg, Killian, Tobias, Wulf, Matthias, Ackermann, Susanne, Ehrenstein, Boris, Zipfel, Peter F., Skerka, Christine, Weber, Bernhard H. F.
Publicado em 2014

Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

Por Weber, Bernhard H. F., Schrewe, Heinrich, Molday, Laurie L., Gehrig, Andrea, White, Karen L., Seeliger, Mathias W., Jaissle, Gesine B., Friedburg, Christoph, Tamm, Ernst, Molday, Robert S.
Publicado em 2002

A Circulating MicroRNA Profile Is Associated with Late-Stage Neovascular Age-Related Macular Degeneration

Por 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.
Publicado em 2014