Daniel F Schorderet

Summary

Affiliation: Institut de Recherche en Ophtalmologie
Country: Switzerland

Publications

  1. pmc Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice
    Pascal Escher
    Institute for Research in Ophthalmology, Sion, Switzerland
    Mol Vis 14:2126-35. 2008
  2. pmc Eight previously unidentified mutations found in the OA1 ocular albinism gene
    Hélène 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
  3. ncbi D-TAT transporter as an ocular peptide delivery system
    Daniel F Schorderet
    IRO Institut de Recherche en Ophtalmologie, Sion, Switzerland
    Clin Experiment Ophthalmol 33:628-35. 2005
  4. ncbi Retinopathy in Danon disease
    Daniel F Schorderet
    Institut de Recherche en Ophthalmologie, Avenue de Grand Champsec 64, 1950 Sion, Switzerland
    Arch Ophthalmol 125:231-6. 2007
  5. doi Zebrafish hmx1 promotes retinogenesis
    Gaelle Boisset
    IRO, Institute for Research in Ophthalmology, Av Grand Champsec 64, 1950 Sion, Switzerland
    Exp Eye Res 105:34-42. 2012
  6. ncbi Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration
    Asimina Mataftsi
    IRO Institute of Research in Ophthalmology, Sion, Switzerland
    Invest Ophthalmol Vis Sci 48:5160-7. 2007
  7. pmc Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
    Pascal Escher
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
    Hum Mutat 30:342-51. 2009
  8. pmc 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 protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5
    Sandra Cottet
    Institute for Research in Ophthalmology, Sion, Switzerland Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland
    Mol Vis 19:2312-20. 2013
  9. pmc Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
    Daniel F Schorderet
    Institut de Recherche en Ophtalmologie, 1950 Sion, Switzerland
    Am J Hum Genet 82:1178-84. 2008
  10. pmc Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice
    Mauro Bustamante
    Institut de Recherche en Ophtalmologie, Sion, Switzerland
    Mol Vis 14:1129-37. 2008

Detail Information

Publications60

  1. pmc Differential neuroglycan C expression during retinal degeneration in Rpe65-/- mice
    Pascal 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...
  2. pmc Eight previously unidentified mutations found in the OA1 ocular albinism gene
    Hélène 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...
  3. ncbi D-TAT transporter as an ocular peptide delivery system
    Daniel 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...
  4. ncbi Retinopathy in Danon disease
    Daniel 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...
  5. doi Zebrafish hmx1 promotes retinogenesis
    Gaelle Boisset
    IRO, Institute for Research in Ophthalmology, Av Grand Champsec 64, 1950 Sion, Switzerland
    Exp Eye Res 105:34-42. 2012
    ..However, the key patterning genes tested so far were not regulated by hmx1. Altogether, these results suggest an important role for hmx1 in retinogenesis...
  6. ncbi Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration
    Asimina 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)...
  7. pmc Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family
    Pascal 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...
  8. pmc 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 protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5
    Sandra Cottet
    Institute for Research in Ophthalmology, Sion, Switzerland Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland
    Mol Vis 19:2312-20. 2013
    ....
  9. pmc Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome
    Daniel 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...
  10. pmc Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice
    Mauro 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...
  11. doi Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice
    Pascal 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...
  12. pmc Mutations in the DNA-binding domain of NR2E3 affect in vivo dimerization and interaction with CRX
    Raphael 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...
  13. ncbi Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene
    Olivia 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...
  14. doi Bigh3 is upregulated in regenerating zebrafish fin
    Lionel Page
    Institut de Recherche en Ophtalmologie, 64 Av du Grand Champsec, Sion, Switzerland
    Zebrafish 10:36-42. 2013
    ..We show that upregulation of bigh3 and bambia mRNA correlated with the process of fin regeneration and regulation of TGF-b signaling, suggesting a new role for these proteins...
  15. pmc A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa
    Leila Tiab
    Institute for Research in Ophthalmology, IRO, Sion, Switzerland
    Mol Vis 19:829-34. 2013
    ..It has been associated with mutations in different genes, including CRB1 (crumbs homolog 1). The aim of this study was to determine the causative gene in a Tunisian patient with arRP born to non-consanguineous parents...
  16. doi Early apoptosis of rod photoreceptors in Rpe65(-/-) mice is associated with the upregulated expression of lysosomal-mediated autophagic genes
    Sylviane 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...
  17. pmc Identification of HMX1 target genes: a predictive promoter model approach
    Arnaud Boulling
    Institute for Research in Ophthalmology, Sion, Switzerland
    Mol Vis 19:1779-94. 2013
    ..However, the HMX1 pathway remains poorly understood, and in the first approach to better understand the pathway's function, we sought to identify the target genes...
  18. pmc 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
    Séverine Hamann
    IRO, Institute for Research in Ophthalmology, Sion, Switzerland
    PLoS ONE 8:e55372. 2013
    ..They further suggest that αA-crystallin-derived peptides might be sufficient to promote cytoprotective action in response to apoptotic cell death...
  19. pmc IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies
    Daniel F Schorderet
    Institute for Research in Ophthalmology IRO, Grand Champsec 64, 1950 Sion, Switzerland
    Biomed Res Int 2013:198089. 2013
    ..In conclusion, targeted exon capture and next-generation sequencing are a valuable and efficient approach to identify disease-causing sequence variants in retinal dystrophies...
  20. pmc Altered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber's congenital amaurosis
    Joane 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 β-galactosidase-1 (Glb1), β-galactosidase-1-like (Glb1l), and β-galactosidase-1-like protein 2 (Glb1l2)...
  21. ncbi Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy
    Ilhem 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...
  22. pmc Bax-induced apoptosis in Leber's congenital amaurosis: a dual role in rod and cone degeneration
    Séverine 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...
  23. doi Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa
    Pascal Escher
    IRO Institute for Research in Ophthalmology, Sion, Switzerland
    Invest Ophthalmol Vis Sci 53:4754-64. 2012
    ..We reported an unusual appearance of fundus autofluorescence (FAF) associated with NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa (ADRP)...
  24. doi 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
    ....
  25. ncbi Induction of apoptosis in human corneal and HeLa cells by mutated BIGH3
    Sabine Morand
    Division of Medical Genetics, and Unit of Oculogenetics, Sion, Switzerland
    Invest Ophthalmol Vis Sci 44:2973-9. 2003
    ..To determine the effects of overexpression of mutated BIGH3 in HeLa and human corneal epithelial (HCE) cells...
  26. doi Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish
    Gaelle 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...
  27. pmc Autophagy defect is associated with low glucose-induced apoptosis in 661W photoreceptor cells
    Delphine Balmer
    IRO Institute for Research in Ophthalmology, Sion, Switzerland
    PLoS ONE 8:e74162. 2013
    ..These results could modify the way of addressing negative effects of hypoglycemia. Short-term modulation of autophagy could be envisioned to treat diabetic patients in order to avoid secondary complications of the disease. ..
  28. ncbi Pattern dystrophy with high intrafamilial variability associated with Y141C mutation in the peripherin/RDS gene and successful treatment of subfoveal CNV related to multifocal pattern type with anti-VEGF (ranibizumab) intravitreal injections
    Veronika Vaclavik
    Hopital Ophtalmique Jules Gonin, Lausanne, Switzerland
    Retina 32:1942-9. 2012
    ..To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroidal neovascularization associated with pattern dystrophy in one patient...
  29. pmc Acute hypoglycemia induces retinal cell death in mouse
    Martine 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...
  30. ncbi IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing
    Daniel F Schorderet
    IRO, Institute for Research in Ophthalmology, 64 Avenue du Grand Champsec, 1950, Sion, Switzerland
    Adv Exp Med Biol 801:171-6. 2014
    ..As a drop in the costs of HT sequencing is anticipated, target resequencing might become the new gold standard in the molecular diagnosis of RD. ..
  31. ncbi Mechanisms of apoptosis in retinitis pigmentosa
    Sandra 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...
  32. ncbi Biological characterization of gene response in Rpe65-/- mouse model of Leber's congenital amaurosis during progression of the disease
    Sandra Cottet
    Institute of Research in Ophthalmology, Sion, Switzerland
    FASEB J 20:2036-49. 2006
    ....
  33. ncbi CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype
    Walter 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...
  34. ncbi Autophagy induction does not protect retina against apoptosis in ischemia/reperfusion model
    Nathalie Produit-Zengaffinen
    Institute for Research in Ophthalmology, 64 Avenue du Grand Champsec, 1950, Sion, Switzerland
    Adv Exp Med Biol 801:677-83. 2014
    ..On the contrary, an increase in the number of apoptotic cells was observed following I/R in the rapamycin treated retinas. ..
  35. pmc Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta
    Bozena 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...
  36. pmc Retinal ischemia-induced apoptosis is associated with alteration in Bax and Bcl-x(L) expression rather than modifications in Bak and Bcl-2
    Nathalie 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...
  37. ncbi Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online
    Daniel 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...
  38. pmc A Dimerized HMX1 Inhibits EPHA6/epha4b in Mouse and Zebrafish Retinas
    Fabienne Marcelli
    IRO Institute for Research in Ophthalmology, Sion, Switzerland Faculty of Life Sciences, Swiss Federal Institute of Technology EPFL, Lausanne, Switzerland
    PLoS ONE 9:e100096. 2014
    ..We also identified that EPHA6, a gene implicated in retinal axon guidance, is one of its targets in eye development and showed that a dimerized HMX1 is needed to inhibit EPHA6 expression. ..
  39. doi Identification of the minimal promoter region of the mouse NKX5-3, a transcription factor implicated in eye development
    Olivia 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...
  40. doi MAP kinase pathways in UV-induced apoptosis of retinal pigment epithelium ARPE19 cells
    Raphael 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...
  41. pmc Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate
    Kriss Canola
    Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, 1004 Lausanne, Switzerland
    Invest Ophthalmol Vis Sci 48:446-54. 2007
    ....
  42. ncbi Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene
    Leila 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)...
  43. pmc Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness
    Christina 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...
  44. pmc Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration
    Lihua 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...
  45. doi Triggering of Bcl-2-related pathway is associated with apoptosis of photoreceptors in Rpe65-/- mouse model of Leber's congenital amaurosis
    Sandra 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...
  46. ncbi Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy
    Thierry 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...
  47. ncbi A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia
    Tiziana 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...
  48. ncbi Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin
    Barbara 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...
  49. ncbi Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A
    Carole 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...
  50. pmc Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy
    Shouling 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...
  51. pmc Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
    Anren 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...
  52. ncbi Bmi1 loss produces an increase in astroglial cells and a decrease in neural stem cell population and proliferation
    Dusan 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...
  53. ncbi Epidermal growth factor is a neuronal differentiation factor for retinal stem cells in vitro
    Brigitte Angenieux
    Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, 15, av de France, 1004 Lausanne, Switzerland
    Stem Cells 24:696-706. 2006
    ..Our results show that EGF is not only a factor controlling glial development, as previously shown, but also a potent differentiation factor for retinal neurons, at least in vitro...
  54. ncbi BIGH3 mutation spectrum in corneal dystrophies
    Francis 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...
  55. ncbi A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3
    Sandrine 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...
  56. ncbi Keratoepithelin suppresses the progression of experimental human neuroblastomas
    Jurgen Becker
    Abteilung Pädiatrie I, Zentrum Kinderheilkunde und Jugendmedizin, Klinikum der Georg August Universität Göttingen, Gottingen, Germany
    Cancer Res 66:5314-21. 2006
    ..Together with the observation that keratoepithelin is expressed in human neuroblastomas in vivo, our data suggest that keratoepithelin could play a beneficial role in neuroblastoma development and/or progression...
  57. ncbi Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome
    Veronique 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...
  58. doi Deposits of transforming growth factor-beta-induced protein in granular corneal dystrophy type II after LASIK
    Tae 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)...
  59. pmc Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
    Zhenglin 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...
  60. ncbi Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy
    Zhaoxia 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...