Search Results - "SCHORDERET, DANIEL F."

Zebrafish: Housing and husbandry recommendations by Aleström, Peter, D’Angelo, Livia, Midtlyng, Paul J, Schorderet, Daniel F, Schulte-Merker, Stefan, Sohm, Frederic, Warner, Susan

“…This article provides recommendations for the care of laboratory zebrafish (Danio rerio) as part of the further implementation of Annex A to the European…”
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Hmx1 regulates urfh1 expression in the craniofacial region in zebrafish by El Fersioui, Younes, Pinton, Gaëtan, Allaman-Pillet, Nathalie, Schorderet, Daniel F

“…H6 family homeobox 1 (HMX1) regulates multiple aspects of craniofacial development as it is widely expressed in the eye, peripheral ganglia and branchial…”
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MAP kinase pathways in UV-induced apoptosis of retinal pigment epithelium ARPE19 cells by Roduit, Raphaël, Schorderet, Daniel F

“…The retinal pigment epithelium (RPE) is constantly exposed to external injuries which lead to degeneration, dysfunction or loss of RPE cells. The balance…”
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Genetic spectrum of retinal dystrophies in Tunisia by Habibi, Imen, Falfoul, Yosra, Turki, Ahmed, Hassairi, Asma, El Matri, Khaled, Chebil, Ahmed, Schorderet, Daniel F., El Matri, Leila

“…We report the molecular basis of the largest Tunisian cohort with inherited retinal dystrophies (IRD) reported to date, identify disease-causing pathogenic…”
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A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia by Borsello, Tiziana, Clarke, Peter G H, Hirt, Lorenz, Vercelli, Alessandro, Repici, Mariaelena, Schorderet, Daniel F, Bogousslavsky, Julien, Bonny, Christophe

“…Neuronal death in cerebral ischemia is largely due to excitotoxic mechanisms, which are known to activate the c-Jun N-terminal kinase (JNK) pathway. We have…”
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A dimerized HMX1 inhibits EPHA6/epha4b in mouse and zebrafish retinas by Marcelli, Fabienne, Boisset, Gaëlle, Schorderet, Daniel F

“…HMX1 is a homeobox-containing transcription factor implicated in eye development and responsible for the oculo-auricular syndrome of…”
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Autosomal-Recessive Posterior Microphthalmos Is Caused by Mutations in PRSS56, a Gene Encoding a Trypsin-Like Serine Protease by Gal, Andreas, Rau, Isabella, El Matri, Leila, Kreienkamp, Hans-Jürgen, Fehr, Susanne, Baklouti, Karim, Chouchane, Ibtissem, Li, Yun, Rehbein, Monika, Fuchs, Josefine, Fledelius, Hans C., Vilhelmsen, Kaj, Schorderet, Daniel F., Munier, Francis L., Ostergaard, Elsebet, Thompson, Debra A., Rosenberg, Thomas

“…Posterior microphthalmos (MCOP) is a rare isolated developmental anomaly of the eye characterized by extreme hyperopia due to short axial length. The…”
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Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia by Habibi, Imen, Youssef, Mohamed, Marzouk, Eman, El Shakankiri, Nihal, Gawdat, Ghada, El Sada, Mohamed, F Schorderet, Daniel, Abou Zeid, Hana

“…Anophthalmia and microphthalmia (A/M) are rare distinct phenotypes that represent a continuum of structural developmental eye defects. Here, we describe three…”
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ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm by Yahyavi, Mani, Abouzeid, Hana, Gawdat, Ghada, de Preux, Anne-Sophie, Xiao, Tong, Bardakjian, Tanya, Schneider, Adele, Choi, Alex, Jorgenson, Eric, Baier, Herwig, El Sada, Mohamad, Schorderet, Daniel F, Slavotinek, Anne M

“…The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in…”
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Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants by Poncet, Anaïs F, Grunewald, Olivier, Vaclavik, Veronika, Meunier, Isabelle, Drumare, Isabelle, Pelletier, Valérie, Bocquet, Béatrice, Todorova, Margarita G, Le Moing, Anne-Gaëlle, Devos, Aurore, Schorderet, Daniel F, Jobic, Florence, Defoort-Dhellemmes, Sabine, Dollfus, Hélène, Smirnov, Vasily M, Dhaenens, Claire-Marie

“…Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal…”
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Acute hypoglycemia induces retinal cell death in mouse by Emery, Martine, Schorderet, Daniel F, Roduit, Raphaël

“…Glucose is the most important metabolic substrate of the retina and maintenance of normoglycemia is an essential challenge for diabetic patients. Glycemic…”
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Analysis of the cytoprotective role of α-crystallins in cell survival and implication of the αA-crystallin C-terminal extension domain in preventing Bax-induced apoptosis by Hamann, Séverine, Métrailler, Sylviane, Schorderet, Daniel F, Cottet, Sandra

“…α-Crystallins, initially described as the major structural proteins of the lens, belong to the small heat shock protein family. Apart from their function as…”
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JNK Inhibition Reduced Retinal Ganglion Cell Death after Ischemia/Reperfusion In Vivo and after Hypoxia In Vitro by Produit-Zengaffinen, Nathalie, Favez, Tatiana, Pournaras, Constantin J, Schorderet, Daniel F

“…Mitogen-activated protein kinases (MAPKs) are key regulators that have been linked to cell survival and death. Among the main classes of MAPKs, c-jun…”
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The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter by Abplanalp, Jeannette, Laczko, Endre, Philp, Nancy J, Neidhardt, John, Zuercher, Jurian, Braun, Philipp, Schorderet, Daniel F, Munier, Francis L, Verrey, François, Berger, Wolfgang, Camargo, Simone M R, Kloeckener-Gruissem, Barbara

“…Creatine transport has been assigned to creatine transporter 1 (CRT1), encoded by mental retardation associated SLC6A8. Here, we identified a second creatine…”
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Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene by Luder, Hans U, Gerth-Kahlert, Christina, Ostertag-Benzinger, Silke, Schorderet, Daniel F

“…Jalili syndrome denotes a recessively inherited combination of an eye disease (cone-rod dystrophy) and a dental disorder (amelogenesis imperfecta), which is…”
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Mutations in the SPARC-Related Modular Calcium-Binding Protein 1 Gene, SMOC1, Cause Waardenburg Anophthalmia Syndrome by Abouzeid, Hana, Boisset, Gaëlle, Favez, Tatiana, Youssef, Mohamed, Marzouk, Iman, Shakankiry, Nihal, Bayoumi, Nader, Descombes, Patrick, Agosti, Céline, Munier, Francis L., Schorderet, Daniel F.

“…Waardenburg anophthalmia syndrome, also known as microphthalmia with limb anomalies, ophthalmoacromelic syndrome, and anophthalmia-syndactyly, is a rare…”
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Premature Vertebral Mineralization in hmx1 -Mutant Zebrafish by El Fersioui, Younes, Pinton, Gaëtan, Allaman-Pillet, Nathalie, Schorderet, Daniel F

“…H6 family homeobox 1 (HMX1) regulates multiple aspects of craniofacial development, and mutations in are linked to an ocular defect termed oculoauricular…”
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Autophagy defect is associated with low glucose-induced apoptosis in 661W photoreceptor cells by Balmer, Delphine, Emery, Martine, Andreux, Pénélope, Auwerx, Johan, Ginet, Vanessa, Puyal, Julien, Schorderet, Daniel F, Roduit, Raphaël

“…Glucose is an important metabolic substrate of the retina and diabetic patients have to maintain a strict normoglycemia to avoid diabetes secondary effects,…”
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Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration by Hamann, Séverine, Schorderet, Daniel F, Cottet, Sandra

“…Pathogenesis in the Rpe65(-/-) mouse model of Leber's congenital amaurosis (LCA) is characterized by a slow and progressive degeneration of the rod…”
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Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB) by Habibi, Imen, Falfoul, Yosra, Todorova, Margarita G, Wyrsch, Stefan, Vaclavik, Veronika, Helfenstein, Maria, Turki, Ahmed, Matri, Khaled El, Matri, Leila El, Schorderet, Daniel F

“…Mutations in cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy…”
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