Mutations in the DNA-Binding Domain of NR2E3 Affect In Vivo Dimerization and Interaction with CRX

Por Roduit, Raphael, Escher, Pascal, Schorderet, Daniel F.
Publicado em 2009

Colony-stimulating factor 1 receptor inhibition prevents disruption of the blood-retina barrier during chronic inflammation

Por Kokona, Despina, Ebneter, Andreas, Escher, Pascal, Zinkernagel, Martin S.
Publicado no J Neuroinflammation (2018)

Differential neuroglycan C expression during retinal degeneration in Rpe65(−/−) mice

Por Escher, Pascal, Cottet, Sandra, Aono, Saichiko, Oohira, Atsuhiko, Schorderet, Daniel F.
Publicado em 2008

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

Por Schorderet, Daniel F., Iouranova, Alexandra, Favez, Tatiana, Tiab, Leila, Escher, Pascal
Publicado em 2013

RETINAL FLECKS IN STARGARDT DISEASE REVEAL CHARACTERISTIC FLUORESCENCE LIFETIME TRANSITION OVER TIME

Por Solberg, Yasmin, Dysli, Chantal, Escher, Pascal, Berger, Lisa, Wolf, Sebastian, Zinkernagel, Martin S.
Publicado no Retina (2019)

Absence of Genotype/Phenotype Correlations Requires Molecular Diagnostic to Ascertain Stargardt and Stargardt-Like Swiss Patients

Por Buhler, Virginie M.M., Berger, Lieselotte, Schaller, André, Zinkernagel, Martin S., Wolf, Sebastian, Escher, Pascal
Publicado no Genes (Basel) (2021)

A Novel Role for Embigin to Promote Sprouting of Motor Nerve Terminals at the Neuromuscular Junction

Por Lain, Enzo, Carnejac, Soizic, Escher, Pascal, Wilson, Marieangela C., Lømo, Terje, Gajendran, Nadesan, Brenner, Hans Rudolf
Publicado em 2009

Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain p...

Por Cottet, Sandra, Jüttner, René, Voirol, Nathalie, Chambon, Pierre, Rathjen, Fritz G., Schorderet, Daniel F., Escher, Pascal
Publicado em 2013

Nuclear Receptor Rev-erb Alpha (Nr1d1) Functions in Concert with Nr2e3 to Regulate Transcriptional Networks in the Retina

Por Mollema, Nissa J., Yuan, Yang, Jelcick, Austin S., Sachs, Andrew J., von Alpen, Désirée, Schorderet, Daniel, Escher, Pascal, Haider, Neena B.
Publicado em 2011

Modifier Genes as Therapeutics: The Nuclear Hormone Receptor Rev Erb Alpha (Nr1d1) Rescues Nr2e3 Associated Retinal Disease

Por Cruz, Nelly M., Yuan, Yang, Leehy, Barrett D., Baid, Rinku, Kompella, Uday, DeAngelis, Margaret M., Escher, Pascal, Haider, Neena B.
Publicado em 2014

Differential dimerization of variants linked to enhanced S-Cone Sensitivity Syndrome (ESCS) located in the NR2E3 ligand-binding domain

Por von Alpen, Désirée, Tran, H. Viet, Guex, Nicolas, Venturini, Giulia, Munier, Francis L., Schorderet, Daniel F., Haider, Neena B., Escher, Pascal
Publicado no Hum Mutat (2015)

The G(0)/G(1) switch gene 2 is a novel PPAR target gene

Por Zandbergen, Fokko, Mandard, Stéphane, Escher, Pascal, Tan, Nguan Soon, Patsouris, David, Jatkoe, Tim, Rojas-Caro, Sandra, Madore, Steve, Wahli, Walter, Tafuri, Sherrie, Müller, Michael, Kersten, Sander
Publicado em 2005

Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

Por Polok, Bozena, Escher, Pascal, Ambresin, Aude, Chouery, Eliane, Bolay, Sylvain, Meunier, Isabelle, Nan, Francis, Hamel, Christian, Munier, Francis L., Thilo, Bernard, Mégarbané, André, Schorderet, Daniel F.
Publicado em 2009

PPARα governs glycerol metabolism

Por Patsouris, David, Mandard, Stéphane, Voshol, Peter J., Escher, Pascal, Tan, Nguan Soon, Havekes, Louis M., Koenig, Wolfgang, März, Winfried, Tafuri, Sherrie, Wahli, Walter, Müller, Michael, Kersten, Sander
Publicado em 2004

Impaired skin wound healing in peroxisome proliferator–activated receptor (PPAR)α and PPARβ mutant mice

Por Michalik, Liliane, Desvergne, Béatrice, Tan, Nguan Soon, Basu-Modak, Sharmila, Escher, Pascal, Rieusset, Jennifer, Peters, Jeffrey M., Kaya, Gürkan, Gonzalez, Frank J., Zakany, Jozsef, Metzger, Daniel, Chambon, Pierre, Duboule, Denis, Wahli, Walter
Publicado em 2001

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in a same family

Por Escher, Pascal, Gouras, Peter, Roduit, Raphaël, Tiab, Leila, Bolay, Sylvain, Delarive, Tania, Chen, Shiming, Tsai, Chih-Cheng, Hayashi, Masanori, Zernant, Jana, Merriam, Joanna E., Mermod, Nicolas, Allikmets, Rando, Munier, Francis L., Schorderet, Daniel F.
Publicado em 2009

The PROM1 Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy

Por Michaelides, Michel, Gaillard, Marie-Claire, Escher, Pascal, Tiab, Leila, Bedell, Matthew, Borruat, François-Xavier, Barthelmes, Daniel, Carmona, Ruben, Zhang, Kang, White, Edward, McClements, Michelle, Robson, Anthony G., Holder, Graham E., Bradshaw, Keith, Hunt, David M., Webster, Andrew R., Moore, Anthony T., Schorderet, Daniel F., Munier, Francis L.
Publicado em 2010

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

Por Yang, Zhenglin, Chen, Yali, Lillo, Concepcion, Chien, Jeremy, Yu, Zhengya, Michaelides, Michel, Klein, Martin, Howes, Kim A., Li, Yang, Kaminoh, Yuuki, Chen, Haoyu, Zhao, Chao, Chen, Yuhong, Al-Sheikh, Youssef Tawfik, Karan, Goutam, Corbeil, Denis, Escher, Pascal, Kamaya, Shin, Li, Chunmei, Johnson, Samantha, Frederick, Jeanne M., Zhao, Yu, Wang, Changguan, Cameron, D. Joshua, Huttner, Wieland B., Schorderet, Daniel F., Munier, Frances L., Moore, Anthony T., Birch, David G., Baehr, Wolfgang, Hunt, David M., Williams, David S., Zhang, Kang
Publicado em 2008

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice

Por Yang, Zhenglin, Chen, Yali, Lillo, Concepcion, Chien, Jeremy, Yu, Zhengya, Michaelides, Michel, Klein, Martin, Howes, Kim A., Li, Yang, Kaminoh, Yuuki, Chen, Haoyu, Zhao, Chao, Chen, Yuhong, Al-Sheikh, Youssef Tawfik, Karan, Goutam, Corbeil, Denis, Escher, Pascal, Kamaya, Shin, Li, Chunmei, Johnson, Samantha, Frederick, Jeanne M., Zhao, Yu, Wang, Changguan, Cameron, D. Joshua, Huttner, Wieland B., Schorderet, Daniel F., Munier, Frances L., Moore, Anthony T., Birch, David G., Baehr, Wolfgang, Hunt, David M., Williams, David S., Zhang, Kang
Publicado em 2009