Research Topics
Genomes and Genes
| Daniel F SchorderetSummaryAffiliation: Institut de Recherche en Ophtalmologie Country: Switzerland Publications
| Collaborators
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Detail Information
Publications
BIGH3 mutation spectrum in corneal dystrophiesFrancis L Munier
Hopital Jules Gonin, Department of Ophthalmology, Lausanne, Switzerland
Invest Ophthalmol Vis Sci 43:949-54. 2002..To investigate the molecular pathology underlying BIGH3-related corneal dystrophies (CDs) and to further delineate genotype-phenotype specificity...- Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. OnlineDaniel F Schorderet
Institut de Recherche en Ophtalmologie, Sion, Switzerland
Hum Mutat 28:525. 2007..who identified mutations in FRMD7, a gene of unclear function. We report five novel mutations in FRMD7 and confirm the role of this gene in the pathogenesis of X-linked congenital nystagmus... - Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndromeDaniel F Schorderet
Institut de Recherche en Ophtalmologie, 1950 Sion, Switzerland
Am J Hum Genet 82:1178-84. 2008..Morpholino knockdown expression of the zebrafish nkx5-3 induced microphthalmia and disorganization of the developing retina, thus confirming that this gene represents an additional member implicated in axial patterning of the retina... - Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degenerationAsimina Mataftsi
IRO Institute of Research in Ophthalmology, Sion, Switzerland
Invest Ophthalmol Vis Sci 48:5160-7. 2007..To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD)... - Differential neuroglycan C expression during retinal degeneration in Rpe65-/- micePascal Escher
Institute for Research in Ophthalmology, Sion, Switzerland
Mol Vis 14:2126-35. 2008..To validate these data, we analyzed this differential expression in more detail by characterizing retinal NGC mRNA isoform and protein expression during disease progression... - Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same familyPascal Escher
Institut de Recherche en Ophtalmologie, Sion, Switzerland
Hum Mutat 30:342-51. 2009..R311Q mutation. Finally, the functional dominance of the p.R311Q variant to the p.G56R mutation is discussed... - Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic miceMauro Bustamante
Institut de Recherche en Ophtalmologie, Sion, Switzerland
Mol Vis 14:1129-37. 2008..We investigated the role of TGFBI/BIGH3 in Groenouw corneal dystrophies by generating transgenic mice overexpressing TGFBI/BIGH3 containing the R555W mutation... - Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- micePascal Escher
Institute for Research in Ophthalmology, Sion, Switzerland
Invest Ophthalmol Vis Sci 52:5933-40. 2011..Mef2c-dependent expression of photoreceptor-specific genes was further addressed... - Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRXRaphael Roduit
IRO, Institute for Research in Ophthalmology, Sion, Switzerland
PLoS ONE 4:e7379. 2009..NR2E3 and CRX have been shown to physically interact in vitro through their respective DNA-binding domains (DBD). The DBD also contributes to homo- and heterodimerization of nuclear receptors... - Altered expression of ?-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosisJoane Le Carré
IRO, Institute for Research in Ophthalmology, Sion, Switzerland
Mol Vis 17:1287-97. 2011..Additionally, we assessed the expression of the other members of this protein family, including ?-galactosidase-1 (Glb1), ?-galactosidase-1-like (Glb1l), and ?-galactosidase-1-like protein 2 (Glb1l2)... - Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degenerationSéverine Hamann
IRO, Institute for Research in Ophthalmology, Sion, Switzerland
PLoS ONE 4:e6616. 2009..These results highlight the necessity to investigate and understand the specific death signaling pathways committed in rods and cones to develop effective therapeutic approaches to treat RP diseases... - Retinopathy in Danon diseaseDaniel F Schorderet
Institut de Recherche en Ophthalmologie, Avenue de Grand Champsec 64, 1950 Sion, Switzerland
Arch Ophthalmol 125:231-6. 2007..To evaluate visual function in 2 boys and their maternal aunt affected with Danon disease due to a mutation in the X-linked lysosome-associated membrane protein-2 (LAMP2) gene... - Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) geneOlivia Nichini
IRO Institut de Recherche en Ophtalmologie, Sion, Switzerland
Ophthalmic Genet 26:169-73. 2005..It is caused by heterozygous mutations in KRT3 or KRT12 gene. Actually, 14 mutations have been reported, 1 in KRT3 and 13 in KRT12. These genes were screened in several patients suffering from MECD... - NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)Daniel F Schorderet
Institute for Research in Ophthalmology, Sion, Switzerland
Hum Mutat 30:1475-85. 2009.... - Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafishGaelle Boisset
IRO, Institute for Research in Ophthalmology, Grand Champsec 64, 1950 Sion, Switzerland University of Lausanne, Department of Ophthalmology, 1015 Lausanne, Switzerland
Gene Expr Patterns 8:404-10. 2008..A similar expression pattern was found in the eye at 5 dpf. A temporal regulation of the spliced variants was observed at 1, 3 and 5 dpf and they were also found in the adult eye... - Acute hypoglycemia induces retinal cell death in mouseMartine Emery
Institute for Research in Ophthalmology, Sion, Switzerland
PLoS ONE 6:e21586. 2011..Therefore, we decided to study the role of acute hypoglycemia in mouse retina... - Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the diseaseSandra Cottet
Institute of Research in Ophthalmology, Sion, Switzerland
FASEB J 20:2036-49. 2006.... - Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophyIlhem El Kochairi
Institut de Recherche en Ophtalmologie, Sion, Switzerland
Mol Vis 12:461-6. 2006..To investigate the location and tissue-specificity of the pathologic keratoepithelin (KE) deposition in a patient with a keratoepithelinopathy (KEP), TGFBI/BIGH3-related corneal dystrophy... - 5'AMP-activated protein kinase alpha deficiency enhances stress-induced apoptosis in BHK and PC12 cellsMargaret M Shaw
Institut de Recherche en Ophtalmologie, Avenue de Grand Champsec 64, 1950 Sion, Switzerland
J Cell Mol Med 11:286-98. 2007.... - Triggering of Bcl-2-related pathway is associated with apoptosis of photoreceptors in Rpe65-/- mouse model of Leber's congenital amaurosisSandra Cottet
Institute for Research in Ophthalmology IRO, Avenue Grand Champsec 64, 1950, Sion 4, Switzerland
Apoptosis 13:329-42. 2008..They further highlight a new regulatory mechanism of Bax-dependent apoptosis based on regulated expression and activation of specific isoforms of this protein... - Identification of the minimal promoter region of the mouse NKX5-3, a transcription factor implicated in eye developmentOlivia Nichini
Institute for Research in Ophthalmology, Sion, Switzerland
Gene 411:10-8. 2008..Altogether, these results demonstrated that the immediate upstream region of Nkx5-3 gene possessed a strong intrinsic promoter activity in vitro, suggesting a potential role in Nkx5-3 transcription in vivo... - Induction of apoptosis in human corneal and HeLa cells by mutated BIGH3Sabine Morand
Division of Medical Genetics, and Unit of Oculogenetics, Sion, Switzerland
Invest Ophthalmol Vis Sci 44:2973-9. 2003..This work suggests that apoptosis is a key element in the pathophysiology of BIGH3-related corneal dystrophies... - D-TAT transporter as an ocular peptide delivery systemDaniel F Schorderet
IRO Institut de Recherche en Ophtalmologie, Sion, Switzerland
Clin Experiment Ophthalmol 33:628-35. 2005..The potential use of the retro-inverso form of the TAT (D-TAT) peptide, the protein transducing domain of the HIV-1 transcriptional factor, as a molecular transporter was investigated... - Mechanisms of apoptosis in retinitis pigmentosaSandra Cottet
IRO, Institute for Research in Ophthalmology, Sion, Switzerland
Curr Mol Med 9:375-83. 2009..Modulation of common apoptotic signaling pathways may be of outstanding potential to target multiple retinal dystrophies regardless of the primary genetic defect... - Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfectaBozena Polok
Institut de Recherche en Ophtalmologie, 1950 Sion, Switzerland
Am J Hum Genet 84:259-65. 2009..Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis... - Retinal ischemia-induced apoptosis is associated with alteration in Bax and Bcl-x(L) expression rather than modifications in Bak and Bcl-2Nathalie Produit-Zengaffinen
Institute for Research in Ophthalmology, Sion, Switzerland
Mol Vis 15:2101-10. 2009..The aim of this study was to determine whether changes in the expression of molecules in the mitochondrial apoptotic pathway might explain the progression of retinal damage following ischemia/reperfusion... - Early apoptosis of rod photoreceptors in Rpe65(-/-) mice is associated with the upregulated expression of lysosomal-mediated autophagic genesSylviane Métrailler
IRO, Institute for Research in Ophthalmology, Sion, Switzerland
Exp Eye Res 96:70-81. 2012..These events may determine retinal cell fate, progression and severity of the disease... - MAP kinase pathways in UV-induced apoptosis of retinal pigment epithelium ARPE19 cellsRaphael Roduit
IRO, Institut de Recherche en Ophtalmologie, Gd Champsec 64, 1950, Sion, Switzerland
Apoptosis 13:343-53. 2008..The use of specific kinases inhibitors may provide excellent tools to prevent RPE apoptosis specifically in RPE diseases involving ROS and other stress-related compounds such as in AMD... - CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotypeWalter Ferrini
Institute of Research in Ophthalmology, Sion, Switzerland
Invest Ophthalmol Vis Sci 45:1436-41. 2004..To identify the genetic defect leading to the congenital nuclear cataract affecting a large five-generation Swiss family... - Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelinBarbara Stix
Institute of Pathology, Otto von Guericke University, Magdeburg, Germany
Invest Ophthalmol Vis Sci 46:1133-9. 2005..To investigate the molecular basis of hereditary lattice corneal dystrophy (LCD) type IIIA associated with corneal amyloid deposits afflicting several members of a four-generation family... - Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fateKriss Canola
Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, 1004 Lausanne, Switzerland
Invest Ophthalmol Vis Sci 48:446-54. 2007.... - Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 geneLeila el Matri
Hedi Rais Institute of Ophthalmology, Tunis, Tunisia
Graefes Arch Clin Exp Ophthalmol 244:1104-12. 2006..To identify the genetic defect, and to phenotype, three consanguineous Tunisian families presenting with early-onset retinal degeneration (EORD)... - A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3Sandrine Boutboul
Centre de Recherche Thérapeutique en Ophtalmologie CERTO, Faculté Necker Enfants Malades, Paris, France
Hum Mutat 27:553-7. 2006..This is the first report of a molecular mutation in individuals with EBMD and it increases the spectrum of mutations in the TGFBI/BIGH3 gene. Based on our screening, up to 10% of EBMD patients could have a mutation in this gene... - Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degenerationLihua Y Marmorstein
Cole Eye Institute, and Department of Cell Biology, Lerner Research Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA
Proc Natl Acad Sci U S A 99:13067-72. 2002..These data present evidence that misfolding and aberrant accumulation of EFEMP1 may cause drusen formation and cellular degeneration and play an important role in the etiology of both ML and AMD... - Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophyZhaoxia Ren
National Eye Institute, National Institutes of Health, Bethesda, MD 20892 1860, USA
Hum Genet 110:568-77. 2002..No sequence abnormalities were detected in a single family in which the GDLD locus was also excluded from the M1S1 region by linkage analysis. These findings demonstrate allelic and locus heterogeneity for GDLD... - Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndromeVeronique Vieira
Centre de Recherches Thérapeutiques en Ophtalmologie, Equipe d accueil 2502 MENRT, Universite Rene Descartes Paris V, Faculte de Medecine Necker Enfants Malades, Paris, France
Mol Vis 12:1448-60. 2006..The PITX2 gene is a major gene encoding a major transcription factor associated with ARS... - Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2Anren Li
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD 20892, USA
Am J Hum Genet 74:817-26. 2004..Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD... - Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4ACarole T Monney
Division Autonome de Génétique Médicale, Centre Hospitalier Universitaire Vaudois CHUV, Lausanne, Switzerland
Hum Mutat 20:230-1. 2002..Identification of this missense mutation allowed for presymptomatic diagnosis in the younger generations and will improve medical follow-up of the predisposed individuals... - Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35Xiaodong Jiao
Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, Maryland 20892 1860, USA
Hum Genet 112:593-9. 2003..0 located midway between D2S2289 and D2S325. Analysis of CFD in these same families assuming a 90% penetrance increased the maximum lod score to 6.28 at D2S157... - Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathyThierry Kuntzer
Service de Neurologie, Centre Hospitalier Universitaire Vaudois, BH 7 306, 1011, Lausanne, Switzerland
J Neurol Sci 207:77-86. 2003..The clinical manifestations of CMTX have been well described but the natural history has not yet been studied in detail. We studied phenotype variability in a family with a Pro 87 to Leu mutation of the connexin 32 (Cx32) gene... - A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemiaTiziana Borsello
Institut de Biologie Cellulaire et de Morphologie, Universite de Lausanne, Rue du Bugnon 9, CH 1005, Switzerland
Nat Med 9:1180-6. 2003..Protection correlated with prevention of an increase in c-Jun activation and c-Fos transcription. In view of its potency and long therapeutic window, this protease-resistant peptide is a promising neuroprotective agent for stroke... - Calcium- and proteasome-dependent degradation of the JNK scaffold protein islet-brain 1Nathalie Allaman-Pillet
Department of Internal Medicine, Centre Hospitalier Universitaire Vaudois, CH 1011 Lausanne, Switzerland
J Biol Chem 278:48720-6. 2003..These data indicate that calcium influx initiated by cytokines mediates ubiquitination and degradation of IB1/JIP1 and may, therefore, provide a link between calcium influx and JNK-mediated apoptosis in pancreatic beta-cells... - Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literatureYannick Perrin
Department of Medical Genetics, CHUV, Lausanne, Switzerland
Ann Genet 45:173-5. 2002..We compare her phenotype with eight other individuals with trisomy 14q24 --> qter... - Conjunctivitis as a sign of PFAPA syndromeAlexandros Kolokotronis
Ophthalmology 114:1584. 2007 - Deposits of transforming growth factor-beta-induced protein in granular corneal dystrophy type II after LASIKTae Im Kim
Corneal Dystrophy Research Institute, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea
Cornea 27:28-32. 2008..To analyze components of the deposits in the corneal flap interface of granular corneal dystrophy type II (GCD II) patients after laser in situ keratomileusis (LASIK)... - Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindnessChristina Zeitz
Division of Medical Molecular Genetics and Gene Diagnostics, Institute of Medical Genetics, University of Zurich, Schwerzenbach, Switzerland
Am J Hum Genet 79:657-67. 2006..We also show that these mutations reduce the transcript levels to 30%-40% of those in controls. This suggests that the reduced amount of CABP4 is the reason for the signaling defect in these patients... - Eight previously unidentified mutations found in the OA1 ocular albinism geneHélène Mayeur
EA no 2502 du ministère de la Recherche, de l Enseignement Supérieur et la Technologie, Centre de Recherches Thérapeutiques en Ophtalmologie, Universite Rene Descartes Paris V, Faculté de Médecine René Descartes Site Necker, Paris, France
BMC Med Genet 7:41. 2006..This disease is primarily caused by mutations in the OA1 gene... - Bmi1 loss produces an increase in astroglial cells and a decrease in neural stem cell population and proliferationDusan Zencak
Jules Gonin Eye Hospital, Department of Ophthalmology, Lausanne University Medical School, 1004 Lausanne, Switzerland
J Neurosci 25:5774-83. 2005..Bmi1 is therefore necessary for NSC renewal in a cell-intrinsic mode, whereas the altered cell pattern of the Bmi1(-/-) brain shows that in vivo astrocyte precursors can proliferate in the absence of Bmi1... - Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophyShouling Li
Ophthalmic Genetics and Clinical Services Branch, National Eye Institute, Bethesda, MD, USA
Am J Hum Genet 77:54-63. 2005..The histological and clinical characteristics of patients with CFD are consistent with biochemical studies of PIP5K3 that indicate a role in endosomal sorting... - Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceZhenglin Yang
Department of Ophthalmology and Visual Science, Eccles Institute of Human Genetics, University of Utah, Salt Lake City, Utah, USA
J Clin Invest 118:2908-16. 2008..Collectively, our results identify what we believe to be a novel complex involved in photoreceptor disk morphogenesis and indicate a possible role for PROM1 and PCDH21 in macular degeneration...