Safety and efficacy of gene transfer for Leber's congenital amaurosisAlbert M Maguire
Scheie Eye Institute, University of Pennsylvania, USA
N Engl J Med 358:2240-8. 2008
..Although the follow-up was very short and normal vision was not achieved, this study provides the basis for further gene therapy studies in patients with LCA...
Pax6: a multi-level regulator of ocular developmentOhad Shaham
Sackler Faculty of Medicine, Department of Human Molecular Genetics and Biochemistry, Tel Aviv University, Ramat Aviv, Tel Aviv 69978, Israel
Prog Retin Eye Res 31:351-76. 2012
..Pax6 functions at multiple levels to integrate extracellular information and execute cell-intrinsic differentiation programs that culminate in the specification and differentiation of a distinct ocular lineage...
- neurogenin3 is required for the development of the four endocrine cell lineages of the pancreas
G Gradwohl
Institut de Genetique et de Biologie Moleculaire et Cellulaire, Centre National de la Recherche Scientifique Institut National de la Santé et de la Recherche Médicale Université Louis Pasteur, F 67404 Illkirch, France
Proc Natl Acad Sci U S A 97:1607-11. 2000
..Thus, ngn3 is required for the specification of a common precursor for the four pancreatic endocrine cell types...
- Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial
William W Hauswirth
Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
Hum Gene Ther 19:979-90. 2008
..99). Comparisons are drawn between the present work and two other studies of ocular gene therapy for RPE65-LCA that were carried out contemporaneously and reported...
- Pax6 is required for the multipotent state of retinal progenitor cells
T Marquardt
Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Am Fassberg 11, D 37077, Gottingen, Germany
Cell 105:43-55. 2001
....
- TREK-1 and Best1 channels mediate fast and slow glutamate release in astrocytes upon GPCR activation
Dong Ho Woo
Center for Neural Science, Korea Institute of Science and Technology, Seoul, Republic of Korea
Cell 151:25-40. 2012
..Our results reveal two distinct sources of astrocytic glutamate that can differentially influence neighboring neurons...
- Reiterative use of the EGF receptor triggers differentiation of all cell types in the Drosophila eye
M Freeman
MRC Laboratory of Molecular Biology, Cambridge, United Kingdom
Cell 87:651-60. 1996
..These results broaden our view of eye development to include the whole ommatidium and suggest that reiterative activation of DER is critical for triggering the differentiation of all cell types...
- Differentiation of mouse embryonic stem cells into a defined neuronal lineage
Miriam Bibel
Friedrich Miescher Institute, CH 4058 Basel, Switzerland
Nat Neurosci 7:1003-9. 2004
..As they do in vivo, these cells went on to generate neurons with remarkably uniform biochemical and electrophysiological characteristics...
- Channel-mediated tonic GABA release from glia
Soojung Lee
Center for Neural Science, Korea Institute of Science and Technology KIST, Seoul, Korea
Science 330:790-6. 2010
..Our results identify a molecular mechanism for tonic inhibition and establish a role for interactions between glia and neurons in mediating tonic inhibition...
- Effect of gene therapy on visual function in Leber's congenital amaurosis
James W B Bainbridge
Institute of Ophthalmology, University College London, London, United Kingdom
N Engl J Med 358:2231-9. 2008
..These findings provide support for further clinical studies of this experimental approach in other patients with mutant RPE65. (ClinicalTrials.gov number, NCT00643747 [ClinicalTrials.gov].)...
- Nrl is required for rod photoreceptor development
A J Mears
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, Michigan 48105, USA
Nat Genet 29:447-52. 2001
..On the basis of these findings, we postulate that Nrl acts as a 'molecular switch' during rod-cell development by directly modulating rod-specific genes while simultaneously inhibiting the S-cone pathway through the activation of Nr2e3...
- The role of Pax-6 in eye and nasal development
J C Grindley
Developmental Genetics Section, Western General Hospital, Edinburgh, UK
Development 121:1433-42. 1995
....
- Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa
William A Beltran
Section of Ophthalmology, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
Proc Natl Acad Sci U S A 109:2132-7. 2012
..Efficacy of gene therapy in these large animal models of X-linked retinitis pigmentosa provides a path for translation to human treatment...
- Concise review: Pax6 transcription factor contributes to both embryonic and adult neurogenesis as a multifunctional regulator
Noriko Osumi
Division of Developmental Neuroscience, Center for Translational and Advanced Animal Research, Tohoku University School of Medicine, 2 1, Seiryo machi, Aoba ku, Sendai 980 8575, Japan
Stem Cells 26:1663-72. 2008
..Pax6 is a multifunctional player regulating proliferation and differentiation through the control of expression of different downstream molecules in a highly context-dependent manner...
- CRY, a Drosophila clock and light-regulated cryptochrome, is a major contributor to circadian rhythm resetting and photosensitivity
P Emery
Department of Biology, Brandeis University Waltham, Massachusetts 02454, USA
Cell 95:669-79. 1998
..Taken together with the data in the accompanying paper, we propose that CRY is a major Drosophila photoreceptor dedicated to the resetting of circadian rhythms...
- Proteases, proteolysis and inflammatory molecules in the tears of people with keratoconus
Sivaraman Arumugam Balasubramanian
Brien Holden Vision Institute, Sydney, NSW, Australia
Acta Ophthalmol 90:e303-9. 2012
..To investigate the expression of proteases, proteolytic activity and cytokines in the tear film of people with keratoconus...
- Current concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatment
M Gemenetzi
Southampton Eye Unit, Southampton General Hospital, Southampton, UK
Eye (Lond) 26:355-69. 2012
..It emphasizes the correlation of recent achievements in genetics with glaucoma pathophysiology, glaucoma treatment perspectives, and the possibility of future prevention of irreversible visual loss caused by the disease...
- Inhibition of Eyes Absent Homolog 4 expression induces malignant peripheral nerve sheath tumor necrosis
S J Miller
Department of Pediatrics, Division of Experimental Hematology and Cancer Biology, Cincinnati Children s Hospital Research Foundation, University of Cincinnati College of Medicine, Cincinnati, OH 45229 3039, USA
Oncogene 29:368-79. 2010
..Our findings identify a role of EYA4 and possibly interacting SIX and DACH proteins in MPNSTs and suggest the EYA4 pathway as a rational therapeutic target...
- Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization
Xin Ye
Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
Cell 139:285-98. 2009
....
- A functional polymorphism at 3'UTR of the PAX6 gene may confer risk for extreme myopia in the Chinese
Chung Ling Liang
Bright Eyes Clinic, Kaohsiung, Taiwan
Invest Ophthalmol Vis Sci 52:3500-5. 2011
..Conflicting results have been reported regarding the association between PAX6 polymorphism and myopia. This case-control study and functional assay were conducted to identified a functional risk polymorphism for myopia...
- In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse
Bo Chang
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 15:1847-57. 2006
..Our findings suggest a critical function for CEP290 in ciliary transport and provide insights into the mechanism of early-onset photoreceptor degeneration...
- Effective gene therapy with nonintegrating lentiviral vectors
Rafael J Yáñez-Muñoz
Molecular Immunology Unit, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK
Nat Med 12:348-53. 2006
..For therapeutic application to postmitotic tissues, this system substantially reduces the risk of insertional mutagenesis...
- The role of Pax6 in forebrain development
Petrina A Georgala
Genes and Development Group, Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH89XD, United Kingdom
Dev Neurobiol 71:690-709. 2011
..Such studies should also help generate an increasingly coherent understanding of how this pleiotropic transcription factor becomes involved in so many facets of neural development...
- Leber congenital amaurosis: genes, proteins and disease mechanisms
Anneke I den Hollander
Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
Prog Retin Eye Res 27:391-419. 2008
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- Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis
Milena Pellikka
Department of Zoology, University of Toronto, Toronto, Ontario M5S 3G5, Canada
Nature 416:143-9. 2002
..Defects in such scaffolds may contribute to human CRB1-related retinal dystrophies...
- Pax6 activity in the lens primordium is required for lens formation and for correct placement of a single retina in the eye
R Ashery-Padan
Max Planck Institute of Biophysical Chemistry, Department of Molecular Cell Biology, Goettingen D 37077, Germany
Genes Dev 14:2701-11. 2000
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- Primary open-angle glaucoma genes
J H Fingert
Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA
Eye (Lond) 25:587-95. 2011
..Each of these different approaches to study glaucoma genetics is providing new insights into the pathogenesis of POAG...
- RIBEYE, a component of synaptic ribbons: a protein's journey through evolution provides insight into synaptic ribbon function
F Schmitz
Howard Hughes Medical Institute, Center for Basic Neuroscience, Department of Molecular Genetics, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
Neuron 28:857-72. 2000
..Our results define a unique component of synaptic ribbons and suggest that RIBEYE evolved in vertebrates under utilization of a preexisting protein to build a unique scaffold for a specialized synapse...
- The genetics of primary open-angle glaucoma: a review
R Rand Allingham
Duke University Eye Center, Duke University, Durham, NC 27710, USA
Exp Eye Res 88:837-44. 2009
..This review examines what is currently known about the underlying genetic structure, what remains to be learned, and how this may affect our medical management of this major blinding disease...
- VSX1: a gene for posterior polymorphous dystrophy and keratoconus
Elise Heon
Cellular and Molecular Division, Toronto Western Research Institute, Toronto Western Hospital, 399 Bathurst Street, Toronto, Ontario, Canada M5T 2S8
Hum Mol Genet 11:1029-36. 2002
..These data define the molecular basis of two important corneal dystrophies and reveal the importance of the CVC domain in the human retina...
- Pax6 is crucial for β-cell function, insulin biosynthesis, and glucose-induced insulin secretion
Yvan Gosmain
Diabetes Unit, Division of Endocrinology, Diabetes, and Nutrition, University Hospital, University of Geneva Medical School, 1211 Geneva 14, Switzerland
Mol Endocrinol 26:696-709. 2012
..We provide further evidence that Pax6 represents a key element of mature β-cell function...
- The role of Pax6 in regulating the orientation and mode of cell division of progenitors in the mouse cerebral cortex
Maki Asami
Institute for Stem Cell Research, Helmholtz Zentrum Munchen German Research Center for Environmental Health, Ingolstadter Landstr 1, 85764 Neuherberg Munich, Germany
Development 138:5067-78. 2011
..Taken together, our work reveals several direct effects that the transcription factor Pax6 has on the machinery that mediates the orientation and mode of cell division...
- Exaggerated eye growth in IRBP-deficient mice in early development
Jeffrey Wisard
Department of Ophthalmology, Emory University, Atlanta, Georgia 30322, USA
Invest Ophthalmol Vis Sci 52:5804-11. 2011
..Because interphotoreceptor retinoid-binding protein (IRBP) is expressed before being needed in its presumptive role in the visual cycle, we tested whether it controls eye growth during development...
- CRB1 mutations in inherited retinal dystrophies
Kinga Bujakowska
INSERM, U968, Paris, France
Hum Mutat 33:306-15. 2012
..This meta-analysis suggests that the differential phenotype of patients with CRB1 mutations is due to additional modifying factors rather than particular mutant allele combination...
- Relative roles of the different Pax6 domains for pancreatic alpha cell development
Petra Dames
Ludwig Maximilians Universitat, Klinikum Grosshadern, Medizinische Klinik, Munchen, Germany
BMC Dev Biol 10:39. 2010
..We ask the question of how the differentiation of pancreatic endocrine cells, in particular that of alpha-cells, is affected by selective inactivation of either one of the three major domains of Pax6...
- Drosophila CRY is a deep brain circadian photoreceptor
P Emery
Department of Biology, National Science Foundation Center for Biological Timing, Waltham, Massachusetts 02454, USA
Neuron 26:493-504. 2000
..These brain neurons therefore contain an identified deep brain photoreceptor, as well as the other circadian elements: a central pace-maker and a behavioral output system...
- The level of the transcription factor Pax6 is essential for controlling the balance between neural stem cell self-renewal and neurogenesis
Stephen N Sansom
Gurdon Institute and Department of Biochemistry, University of Cambridge, Cambridge, UK
PLoS Genet 5:e1000511. 2009
....
- Tubby and tubby-like protein 1 are new MerTK ligands for phagocytosis
Nora B Caberoy
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL 33136, USA
EMBO J 29:3898-910. 2010
..PPBD was mapped to the highly conserved 54 amino acids at the C-terminal end of tubby and Tulp1. These data suggest that tubby and Tulp1 are novel bridging molecules to facilitate phagocytosis through MerTK...
- Six3, a murine homologue of the sine oculis gene, demarcates the most anterior border of the developing neural plate and is expressed during eye development
G Oliver
Department of Molecular Cell Biology, Max Planck Institute of Biophysical Chemistry, Gottingen, Germany
Development 121:4045-55. 1995
..This region shares a homology with the distal region of mouse chromosome 17 where Six3 has been mapped...
- Genetic analysis of Indian families with autosomal recessive retinitis pigmentosa by homozygosity screening
Hardeep Pal Singh
Kallam Anji Reddy Molecular Genetics Laboratory, Champalimaud Translational Centre for Eye Research, Hyderabad Eye Research Foundation, Hyderabad, India
Invest Ophthalmol Vis Sci 50:4065-71. 2009
..To identify the disease-causing genes in families with autosomal recessive RP (ARRP)...
- Circulating pigment epithelium-derived factor levels are associated with insulin resistance and decrease after weight loss
Monica Sabater
Department of Diabetes, Endocrinology, and Nutrition, Institut d Investigació Biomédica de Girona, Instituto de Salud Carlos III, Girona, Spain
J Clin Endocrinol Metab 95:4720-8. 2010
..We aimed to study circulating pigment epithelium-derived factor (PEDF) in vivo in association with insulin resistance and in vitro in human adipocytes...
- PAX6 haplotypes are associated with high myopia in Han chinese
Bo Jiang
Department of Ophthalmology, The First Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China
PLoS ONE 6:e19587. 2011
..Linkage of myopia to the PAX6 region on chromosome 11p13 was shown in several studies, but the results for association between myopia and PAX6 were inconsistent so far...
- Constitutive overexpression of pigment epithelium-derived factor inhibition of ocular melanoma growth and metastasis
Hua Yang
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia 30322, USA
Invest Ophthalmol Vis Sci 51:28-34. 2010
..This study investigates whether constitutive overexpression of PEDF inhibits the growth and hepatic micrometastasis of ocular melanoma...
- VSX1 gene analysis in keratoconus
Mukesh Tanwar
Laboratory for Molecular Reproduction and Genetics, Department of Anatomy, Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India
Mol Vis 16:2395-401. 2010
..To screen the visual system homeobox 1 (VSX1) gene in keratoconus patients...
- Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and carboxy-terminal subdomain in DNA binding
H E Xu
Department of Biology and Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139 USA
Genes Dev 13:1263-75. 1999
....
- Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing
J A Epstein
Department of Medicine, Brigham and Women s Hospital, Boston, Massachusetts
Genes Dev 8:2022-34. 1994
..The functional nonequivalence of the two Pax6 proteins is underscored by a T-->C mutation at position -3 of the alternative splice acceptor site that changes the ratio of the two isoforms and causes a distinct human ocular syndrome...
- Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium
Minghao Jin
Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, California 90095, USA
Cell 122:449-59. 2005
..Rpe65 with the Leber-associated C330Y and Y368H substitutions had no isomerase activity. Identification of Rpe65 as the isomerase explains the phenotypes in rpe65-/- knockout mice and in humans with Leber congenital amaurosis...
- Pax6 is essential for lens fiber cell differentiation
Ohad Shaham
Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
Development 136:2567-78. 2009
..This study reveals that Pax6 is pivotal for initiation of the lens fiber differentiation program in the mammalian eye...
- Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture
Edwin M Stone
Department of Ophthalmology, The University of Iowa College of Medicine, Carver Family Center for Macular Degeneration, Iowa City, IA 52242, USA
Am J Ophthalmol 144:791-811. 2007
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- Pax-6 expression and activity are induced in the reepithelializing cornea and control activity of the transcriptional promoter for matrix metalloproteinase gelatinase B
J M Sivak
Vision Research Laboratories of the New England Eye Center, Department of Ophthalmology, Tufts University School of Medicine, Boston, Massachusetts 02111, USA
Dev Biol 222:41-54. 2000
..These data suggest a mechanism by which Pax-6 may direct gelB expression in an eye-specific manner...
- The transcription factor Pax6 regulates survival of dopaminergic olfactory bulb neurons via crystallin αA
Jovica Ninkovic
Helmholtz Zentrum Munchen, Institute of Stem Cell Research, Ingolstädter Landstraße 1, D 85764 Neuherberg, Germany
Neuron 68:682-94. 2010
..Strikingly, Pax6 utilizes different DNA-binding domains for its well-known role in fate specification and this role of regulating the survival of specific neuronal subtypes in the mature, healthy brain...
- Characterization of PEDF: a multi-functional serpin family protein
S Filleur
Department of Urology, Texas Tech University Health Sciences Center, 3601 4th Street, MS 6591, Lubbock, Texas 79430 6591, USA
J Cell Biochem 106:769-75. 2009
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- Expression of cone-photoreceptor-specific antigens in a cell line derived from retinal tumors in transgenic mice
Elaine Tan
Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
Invest Ophthalmol Vis Sci 45:764-8. 2004
..To examine an immortalized mouse retinal cell line (661W) for markers characteristic of photoreceptor cells and validate its photoreceptor origin...
- Pax6 is a human neuroectoderm cell fate determinant
Xiaoqing Zhang
Waisman Center and the WiCell Institute, Madison, WI 53705, USA
Cell Stem Cell 7:90-100. 2010
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- Reduction of ER stress via a chemical chaperone prevents disease phenotypes in a mouse model of primary open angle glaucoma
Gulab S Zode
Howard Hughes Medical Institute, Department of Pediatrics, College of Medicine, University of Iowa, Iowa City, Iowa 52242, USA
J Clin Invest 121:3542-53. 2011
..These results demonstrate that ER stress is linked to the pathogenesis of POAG and may be a target for treatment in human patients...
- A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
T P Dryja
Howe Laboratory of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston 02114
Nature 343:364-6. 1990
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- A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family
S Abdelhak
Unite de Genetique Moleculaire Humaine, URA CNRS 1968, Institut Pasteur, Paris, France
Nat Genet 15:157-64. 1997
..In the developing kidney, the expression pattern is indicative of a role for Eya1 in the metanephric cells surrounding the 'just-divided' ureteric branches...
- The Crumbs complex: from epithelial-cell polarity to retinal degeneration
Natalia A Bulgakova
Max Planck Institute for Molecular Cell Biology and Genetics, Pfotenhauerstr 108, Dresden, Germany
J Cell Sci 122:2587-96. 2009
..In addition, we discuss recent results that suggest its participation in various human diseases, including blindness and tumour formation...
- Overexpression of pigment epithelium-derived factor decreases angiogenesis and inhibits the growth of human malignant melanoma cells in vivo
Riichiro Abe
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan
Am J Pathol 164:1225-32. 2004
..PEDF therefore might be a promising novel therapeutic agent for treatment of patients with melanoma...
- Identification of a gene that causes primary open angle glaucoma
E M Stone
Department of Ophthalmology, University of Iowa College of Medicine, Iowa City, IA 52242, USA
Science 275:668-70. 1997
..One of these mutations was also found in a control individual (0.2 percent). Identification of these mutations will aid in early diagnosis, which is essential for optimal application of existing therapies...
- Proinflammatory cytokines and angiogenic and anti-angiogenic factors in vitreous of patients with proliferative diabetic retinopathy and eales' disease
Ponnalagu Murugeswari
Department of Immunology, Dr G Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Tamilnadu, India
Retina 28:817-24. 2008
....
- Clinical and molecular aspects of aniridia
H Kokotas
Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
Clin Genet 77:409-20. 2010
..Here we review the data regarding the mechanisms and the mutations that relate to aniridia...
- Pigment epithelium-derived factor (PEDF) is an endogenous antiinflammatory factor
Sarah X Zhang
Department of Medicine Endocrinology, Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
FASEB J 20:323-5. 2006
..These findings suggest that PEDF is a novel endogenous anti-inflammatory factor in the eye. The decrease of ocular PEDF levels may contribute to inflammation and vascular leakage in DR...
- Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
I M Hanson
MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
Nat Genet 6:168-73. 1994
..We therefore propose that a variety of anterior segment anomalies may be associated with PAX6 mutations...
- Mice lacking the homeodomain transcription factor Nkx2.2 have diabetes due to arrested differentiation of pancreatic beta cells
L Sussel
Nina Ireland Laboratory of Developmental Neurobiology, Department of Psychiatry, University of California, San Francisco, CA 94143, USA
Development 125:2213-21. 1998
..1. We propose that Nkx2.2 is required for the final differentiation of pancreatic beta cells, and in its absence, beta cells are trapped in an incompletely differentiated state...
- Pigment epithelium-derived factor: a potent inhibitor of angiogenesis
D W Dawson
Department of Microbiology Immunology, Department of Pathology, Robert H Lurie Comprehensive Cancer Center, Northwestern University Medical School, Chicago, IL 60611, USA
Science 285:245-8. 1999
..These results suggest that PEDF may be of therapeutic use, especially in retinopathies where pathological neovascularization compromises vision and leads to blindness...
- Pax6 is required for making specific subpopulations of granule and periglomerular neurons in the olfactory bulb
Minoree Kohwi
Department of Neurological Surgery, Program in Developmental and Stem Cell Biology, University of California, San Francisco, California 94143, USA
J Neurosci 25:6997-7003. 2005
..Our data show that SVZ neuroblasts are heterogeneous and that Pax6 is required in a cell-autonomous manner for the production of cells in the dopaminergic lineage...
- Rhythm defects caused by newly engineered null mutations in Drosophila's cryptochrome gene
Eva Dolezelova
Department of Biology, Brandeis University, Waltham, Massachusetts 02454, USA
Genetics 177:329-45. 2007
..Because some norpAP24 cry0 individuals can resynchronize to novel photic regimes, an as-yet undetermined light-input route exists in Drosophila...
- Characterization of the vitreous proteome in diabetes without diabetic retinopathy and diabetes with proliferative diabetic retinopathy
Ben Bo Gao
Research Division, Beetham Eye Institute, Joslin Diabetes Center, One Joslin Place, Boston, Massachusetts 02215, USA
J Proteome Res 7:2516-25. 2008
..These data provide an in depth analysis of the human vitreous proteome and reveal protein alterations that are associated with PDR...
- Neuronal fate determinants of adult olfactory bulb neurogenesis
Michael A Hack
GSF National Research Center for Environment and Health, Institute for Stem Cell Research, Ingolstadter Landstr 1, D 85764 Neuherberg, Germany
Nat Neurosci 8:865-72. 2005
..Together, these data explain both extrinsic and intrinsic mechanisms controlling neuronal identity in adult neurogenesis...
- Pax6 overexpression suppresses cell proliferation and retards the cell cycle in corneal epithelial cells
Jie Ouyang
Bascom Palmer Eye Institute, Miller School of Medicine, University of Miami, FL 33136, USA, and Department of Ophthalmology, Veterans General Hospital, Taichung, Taiwan
Invest Ophthalmol Vis Sci 47:2397-407. 2006
..Pax6 continues to be expressed in the ocular surface epithelia of the postnatal eye. The goal of this study was to investigate a possible role for Pax6 in controlling dynamics of the ocular surface epithelia...
- AKAP2 anchors PKA with aquaporin-0 to support ocular lens transparency
Matthew G Gold
Department of Pharmacology, Howard Hughes Medical Institute, University of Washington School of Medicine, Seattle, WA, USA
EMBO Mol Med 4:15-26. 2012
..Thus, anchored PKA modulation of AQP0 is a homeostatic mechanism that must be physically intact to preserve lens transparency...
- DNaseI hypersensitivity and ultraconservation reveal novel, interdependent long-range enhancers at the complex Pax6 cis-regulatory region
David J McBride
Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
PLoS ONE 6:e28616. 2011
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- 3T3 cell lines stably expressing Pax6 or Pax6(5a)--a new tool used for identification of common and isoform specific target genes
Yury Kiselev
Research Group of Pharmacology, Department of Pharmacy, University of Tromsø, Tromsø, Norway
PLoS ONE 7:e31915. 2012
..Furthermore, a change in morphology of the stably transfected Pax6 and Pax6(5a) cells was observed, and the Pax6 expressing cells were shown to have increased proliferation and migration capacities...
- Levels of lactoferrin, secretory IgA and serum albumin in the tear film of people with keratoconus
Sivaraman Arumugam Balasubramanian
Brien Holden Vision Institute, Sydney, NSW 2052, Australia
Exp Eye Res 96:132-7. 2012
..05). The tears of keratoconus subjects appear to have an altered protein profile, and one that might change with the severity of the disease. These findings may lead the way to understanding or monitoring disease progression...
- Cerulean cataract mapped to 12q13 and associated with a novel initiation codon mutation in MIP
Xueshan Xiao
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat Sen University, Guangzhou, China
Mol Vis 17:2049-55. 2011
..To identify the genetic defect in a large Chinese family with autosomal dominant cerulean cataract...
- Pigment epithelium-derived factor regulates lipid metabolism via adipose triglyceride lipase
Melissa L Borg
Biology of Lipid Metabolism Laboratory, Department of Physiology, Monash University, Clayton, Victoria, Australia
Diabetes 60:1458-66. 2011
..We used ATGL(-/-) mice to determine the role of PEDF in regulating lipid and glucose metabolism...
- Normal ventral telencephalic expression of Pax6 is required for normal development of thalamocortical axons in embryonic mice
T Ian Simpson
Genes and Development Group, Centre for Integrative Physiology, University of Edinburgh, Hugh Robson Building, George Square, Edinburgh, EH8 9XD, UK
Neural Dev 4:19. 2009
..Its functions in these cells are unknown...
- Tear analysis in ocular surface diseases
Lei Zhou
Singapore Eye Research Institute, Singapore
Prog Retin Eye Res 31:527-50. 2012
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- Human retinal pigment epithelium cells as functional models for the RPE in vivo
Zsolt Ablonczy
Department of Ophthalmology, Medical University of South Carolina, SEI Room 518E, 167 Ashley Avenue, Charleston, SC 29425, USA
Invest Ophthalmol Vis Sci 52:8614-20. 2011
..To compare their utility as RPE models, their morphologic and functional characteristics were analyzed...
- Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus
Patrizia De Bonis
Unità di Genetica Medica, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
Mol Vis 17:2482-94. 2011
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- Neuroprotection in diabetic retinopathy
Cristina Hernandez
CIBERDEM and Diabetes and Metabolism Research Unit, Vall Hebron Institut de Recerca, Universitat Autonoma de Barcelona, Spain
Curr Diab Rep 12:329-37. 2012
..In this review we will focus on neurotrophic factors already synthesized by the retina in physiological conditions as a new therapy strategy for neuroprotection...
- The Zw5 protein, a component of the scs chromatin domain boundary, is able to block enhancer-promoter interaction
M Gaszner
Department of Molecular Biology, Princeton University, Princeton, New Jersey 08544 USA
Genes Dev 13:2098-107. 1999
..We show that SBP is encoded by the zeste-white 5 gene and that mutations in zeste-white 5 reduce the enhancer-blocking activity of the multimerized oligonucleotides...
- The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins
Adam M DeRosa
Department of Physiology and Biophysics and the Graduate Program in Genetics, State University of New York, Stony Brook, NY 11794, USA
J Cell Sci 120:4107-16. 2007
..Additionally, mixed channels displayed significantly altered gating properties, a phenomenon that may contribute to the cataract that is associated with this mutation...
- Pigment epithelium-derived factor inhibits neointimal hyperplasia after vascular injury by blocking NADPH oxidase-mediated reactive oxygen species generation
Kazuo Nakamura
Department of Medicine, Division of Cardio Vascular Medicine, Kurume University School of Medicine, 67 Asahi Machi, Kurume 830 0011, Japan
Am J Pathol 170:2159-70. 2007
..Our present study suggests that substitution of PEDF may be a novel therapeutic strategy for restenosis after balloon angioplasty...
- A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
Sara J Bowne
Human Genetics Center, The University of Texas Health Science Center, Houston, TX, USA
Eur J Hum Genet 19:1074-81. 2011
..Gene therapy for LCA patients with RPE65 mutations has shown great promise, raising the possibility of related therapies for dominant-acting mutations in this gene...
- Composition and function of the Crumbs protein complex in the mammalian retina
Ilse Gosens
Department of Human Genetics and Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Geert Grooteplein zuid 10, PO Box 9101, 6500 HB, Nijmegen, The Netherlands
Exp Eye Res 86:713-26. 2008
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- Pigment epithelium-derived factor suppresses ischemia-induced retinal neovascularization and VEGF-induced migration and growth
Elia J Duh
Department of Ophthalmology, Johns Hopkins University School of Medicine, Maumenee 809, 600 N Wolfe Street, Baltimore, MD 21287, USA
Invest Ophthalmol Vis Sci 43:821-9. 2002
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- Anti-tumor effect of adenovirus-mediated gene transfer of pigment epithelium-derived factor on mouse B16-F10 melanoma
Li Ping Yang
State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, West China Clinical Medicine School, Sichuan University, Chengdu, Sichuan, PR China
J Exp Clin Cancer Res 28:75. 2009
..As a potent inhibitor of tumor angiogenesis, pigment epithelium-derived factor (PEDF) has recently been studied and used as an anticancer agent in several tumor models...
- Dual transcriptional activities of SIX proteins define their roles in normal and ectopic eye development
Abigail M Anderson
Department of Biology, Indiana University, Bloomington, IN 47405, USA
Development 139:991-1000. 2012
..This model of repression-mediated induction of developmental programs could have implications beyond the eye and might be applicable to other systems...
- In vitro and in vivo biological activity of PEDF against a range of tumors
Matthew L Broadhead
University of Melbourne, St Vincent s Hospital, Department of Orthopaedics and Surgery, L3, Daly Wing, 35 Victoria Pde, Fitzroy 3065, Vic, Australia
Expert Opin Ther Targets 13:1429-38. 2009
..These direct and indirect effects of PEDF have been examined in vitro and in vivo for a range of malignancies...
- Protective effect of perindopril on diabetic retinopathy is associated with decreased vascular endothelial growth factor-to-pigment epithelium-derived factor ratio: involvement of a mitochondria-reactive oxygen species pathway
Zhi Zheng
Department of Ophthalmology, First People s Hospital of Shanghai, Shanghai Jiaotong University, Shanghai, China
Diabetes 58:954-64. 2009
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- The ratio of VEGF/PEDF expression in bone marrow mesenchymal stem cells regulates neovascularization
Wei Fan
Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove Campus, Brisbane QLD 4059, Australia
Differentiation 81:181-91. 2011
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- Pax6, Tbr2, and Tbr1 are expressed sequentially by radial glia, intermediate progenitor cells, and postmitotic neurons in developing neocortex
Chris Englund
Department of Pathology, University of Washington, Seattle, Washington 98195 7470, USA
J Neurosci 25:247-51. 2005
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- Identification of the antivasopermeability effect of pigment epithelium-derived factor and its active site
Hua Liu
Wilmer Ophthalmological Institute, Johns Hopkins Hospital, Baltimore, MD 21287 8984, USA
Proc Natl Acad Sci U S A 101:6605-10. 2004
..Furthermore, PEDF may represent a superior therapeutic approach to sepsis-associated hypotension, nephrotic syndrome, and other sight-threatening and life-threatening diseases resulting from excessive vascular permeability...
- Pax 6: mastering eye morphogenesis and eye evolution
W J Gehring
Department of Cell Biology, Biozentrum, University of Basel, Klingelbergstrasse 70, 4056 Basel, Switzerland
Trends Genet 15:371-7. 1999
..It is proposed that the various eye-types found in metazoa are derived from a common prototype, monophyletically, by a mechanism called intercalary evolution...
- Identification of pax6-dependent gene regulatory networks in the mouse lens
Louise V Wolf
Department of Ophthalmology, Albert Einstein College of Medicine, Bronx, New York, United States of America
PLoS ONE 4:e4159. 2009
..Collectively, the present studies represent an integrative genome-wide approach to identify downstream networks controlled by Pax6 that control mouse lens and forebrain development...
- Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
Samuel G Jacobson
Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
Hum Mol Genet 12:1073-8. 2003
..The results suggest that the CRB1 disease pathway disturbs the development of normal human retinal organization by interrupting naturally occurring apoptosis...
- Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1
B Incerti
Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science Park, Via Olgettina 58, I 20132 Milan, Italy
Hum Mol Genet 9:2781-8. 2000
..Ultrastructural analysis of the RPE cells, suggests that the giant melanosomes may form by abnormal growth of single melanosomes, rather than the fusion of several, shedding light on the pathogenesis of ocular albinism...
- Photic signaling by cryptochrome in the Drosophila circadian system
F J Lin
Department of Neuroscience, Howard Hughes Medical Institute, University of Pennsylvania Medical School, Philadelphia, Pennsylvania 19104, USA
Mol Cell Biol 21:7287-94. 2001
..High levels of CRY block TIM ubiquitination, suggesting a mechanism by which light-driven changes in CRY could control TIM ubiquitination...
- Direct interaction of geminin and Six3 in eye development
Filippo Del Bene
Developmental Biology Programme, EMBL, Meyerhofstrasse 1, 69012 Heidelberg, Germany
Nature 427:745-9. 2004
..Our data indicate that the transcription factor Six3 and the replication-initiation inhibitor geminin act antagonistically to control the balance between proliferation and differentiation during early vertebrate eye development...
