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Protein and Signaling Networks in Vertebrate Photoreceptor Cells
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FRONTIERS IN MOLECULAR NEUROSCIENCE (2015)
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CELLS (2015)
The severity of retinal pathology in homozygous mice is dependent on additional genetic factors
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HUMAN MOLECULAR GENETICS (2015)
Genetic Background and Light-Dependent Progression of Photoreceptor Cell Degeneration in Prominin-1 Knockout Mice
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Robust Endoplasmic Reticulum-Associated Degradation of Rhodopsin Precedes Retinal Degeneration
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MOLECULAR NEUROBIOLOGY (2015)
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Mouse Slc9a8 Mutants Exhibit Retinal Defects Due to Retinal Pigmented Epithelium Dysfunction
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2015)
Functional expression of electron transport chain complexes in mouse rod outer segments
Daniela Calzia et al.
BIOCHIMIE (2014)
Autophagy and ER-stress contribute to photoreceptor degeneration in cultured adult porcine retina
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BRAIN RESEARCH (2014)
Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice
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BRAIN RESEARCH (2014)
Inefficient Double-Strand Break Repair in Murine Rod Photoreceptors with Inverted Heterochromatin Organization
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CURRENT BIOLOGY (2014)
The Intraflagellar Transport Protein IFT27 Promotes BBSome Exit from Cilia through the GTPase ARL6/BBS3
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DOCUMENTA OPHTHALMOLOGICA (2014)
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EMBO REPORTS (2014)
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EXPERIMENTAL EYE RESEARCH (2014)
Genetic modifier loci of mouse Mfrprd6 identified by quantitative trait locus analysis
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EXPERIMENTAL EYE RESEARCH (2014)
BBS mutations modify phenotypic expression of CEP290-related ciliopathies
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HUMAN MOLECULAR GENETICS (2014)
P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis
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HUMAN MOLECULAR GENETICS (2014)
The Y141C knockin mutation in RDS leads to complex phenotypes in the mouse
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HUMAN MOLECULAR GENETICS (2014)
STRA6 is critical for cellular vitamin A uptake and homeostasis
Jaume Amengual et al.
HUMAN MOLECULAR GENETICS (2014)
Membrane Protein Transport in Photoreceptors: The Function of PDEδ The Proctor Lecture
Wolfgang Baehr
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
Phospholipid flippase ATP8A2 is required for normal visual and auditory function and photoreceptor and spiral ganglion cell survival
Jonathan A. Coleman et al.
JOURNAL OF CELL SCIENCE (2014)
OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness
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Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
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JOURNAL OF MEDICAL GENETICS (2014)
The Ca2+-activated Cl- channel ANO1/TMEM16A regulates primary ciliogenesis
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MOLECULAR BIOLOGY OF THE CELL (2014)
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MOLECULAR GENETICS AND METABOLISM (2014)
SDCCAG8 Regulates Pericentriolar Material Recruitment and Neuronal Migration in the Developing Cortex
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Modifier Genes as Therapeutics: The Nuclear Hormone Receptor Rev Erb Alpha (Nr1d1) Rescues Nr2e3 Associated Retinal Disease
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PLOS ONE (2014)
Photoreceptor Degeneration in Two Mouse Models for Congenital Stationary Night Blindness Type 2
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PLOS ONE (2014)
Initiation of Rod Outer Segment Disc Formation Requires RDS
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PLOS ONE (2014)
Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis
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NATURE COMMUNICATIONS (2014)
SLC7A14 linked to autosomal recessive retinitis pigmentosa
Zi-Bing Jin et al.
NATURE COMMUNICATIONS (2014)
The role of primary cilia in the development and disease of the retina
Gabrielle Wheway et al.
ORGANOGENESIS (2014)
Mechanistically Distinct Mouse Models for CRX-Associated Retinopathy
Nicholas M. Tran et al.
PLOS GENETICS (2014)
A Mutation in the Mouse Ttc26 Gene Leads to Impaired Hedgehog Signaling
Ruth E. Swiderski et al.
PLOS GENETICS (2014)
Oxidative Stress, Hypoxia, and Autophagy in the Neovascular Processes of Age-Related Macular Degeneration
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BIOMED RESEARCH INTERNATIONAL (2014)
The Rpe65rd12 Allele Exerts a Semidominant Negative Effect on Vision in Mice
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INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
Light Damage in Abca4 and Rpe65rd12 Mice
Li Wu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2014)
Role of antioxidant enzymes and small molecular weight antioxidants in the pathogenesis of age-related macular degeneration (AMD)
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BIOGERONTOLOGY (2013)
New findings in ATP supply in rod outer segments: Insights for retinopathies
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BIOLOGY OF THE CELL (2013)
Noncanonical Autophagy Promotes the Visual Cycle
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CELL (2013)
Alternative splicing and retinal degeneration
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CLINICAL GENETICS (2013)
The Cilium Secretes Bioactive Ectosomes
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CURRENT BIOLOGY (2013)
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Dimitra Athanasiou et al.
FEBS LETTERS (2013)
ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice
Lourdes Valdes-Sanchez et al.
HUMAN MOLECULAR GENETICS (2013)
Mitochondrial and Nuclear DNA Damage and Repair in Age-Related Macular Degeneration
Janusz Blasiak et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2013)
The Severe Autosomal Dominant Retinitis Pigmentosa Rhodopsin Mutant Ter349Glu Mislocalizes and Induces Rapid Rod Cell Death
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JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Autophagy Protects the Retina from Light-induced Degeneration
Yu Chen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2013)
Membrane curvature generation by a C-terminal amphipathic helix in peripherin-2/rds, a tetraspanin required for photoreceptor sensory cilium morphogenesis
Nidhi Khattree et al.
JOURNAL OF CELL SCIENCE (2013)
Autosomal recessive retinitis pigmentosa E150K opsin mice exhibit photoreceptor disorganization
Ning Zhang et al.
JOURNAL OF CLINICAL INVESTIGATION (2013)
Onecut1 Is Essential for Horizontal Cell Genesis and Retinal Integrity
Fuguo Wu et al.
JOURNAL OF NEUROSCIENCE (2013)
Maintaining genome stability in the nervous system
Peter J. McKinnon
NATURE NEUROSCIENCE (2013)
Stress Reaction in Outer Segments of Photoreceptors after Blue Light Irradiation
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PLOS ONE (2013)
Comparative Analysis of Induced vs. Spontaneous Models of Autoimmune Uveitis Targeting the Interphotoreceptor Retinoid Binding Protein
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PLOS ONE (2013)
Repair of the degenerate retina by photoreceptor transplantation
Amanda C. Barber et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Proteasome overload is a common stress factor in multiple forms of inherited retinal degeneration
Ekaterina S. Lobanova et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Vitamin A Derivatives as Treatment Options for Retinal Degenerative Diseases
Lindsay Perusek et al.
NUTRIENTS (2013)
Apoptotic Photoreceptor Loss and Altered Expression of Lysosomal Proteins in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis
Udo Bartsch et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
IGFBP-3 and TNF-α Regulate Retinal Endothelial Cell Apoptosis
Qiuhua Zhang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
Ablation of the X-Linked Retinitis Pigmentosa 2 (Rp2) Gene in Mice Results in Opsin Mislocalization and Photoreceptor Degeneration
Linjing Li et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
A Naturally Occurring Mouse Model of Achromatopsia: Characterization of the Mutation in Cone Transducin and Subsequent Retinal Phenotype
Andrew I. Jobling et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2013)
A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
Susanne Kohl et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Three-Dimensional Architecture of the Rod Sensory Cilium and Its Disruption in Retinal Neurodegeneration
Jared C. Gilliam et al.
CELL (2012)
Oxidative stress: The achilles' heel of neurodegenerative diseases of the retina
Xue Cai et al.
FRONTIERS IN BIOSCIENCE-LANDMARK (2012)
Endosomal sorting by Semaphorin 4A in retinal pigment epithelium supports photoreceptor survival
Toshihiko Toyofuku et al.
GENES & DEVELOPMENT (2012)
Nxnl2 splicing results in dual functions in neuronal cell survival and maintenance of cell integrity
Celine Jaillard et al.
HUMAN MOLECULAR GENETICS (2012)
Mechanism of All-trans-retinal Toxicity with Implications for Stargardt Disease and Age-related Macular Degeneration
Yu Chen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2012)
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis
Rivka A. Rachel et al.
JOURNAL OF CLINICAL INVESTIGATION (2012)
Retinal cone and rod photoreceptor cells exhibit differential susceptibility to light-induced damage
Kiichiro Okano et al.
JOURNAL OF NEUROCHEMISTRY (2012)
The diversity outbred mouse population
Gary A. Churchill et al.
MAMMALIAN GENOME (2012)
Accelerated loss of hearing and vision in the DNA-repair deficient Ercc1δ/- mouse
Marcella Spoor et al.
MECHANISMS OF AGEING AND DEVELOPMENT (2012)
Assessment of Axial Length Measurements in Mouse Eyes
Han Na Park et al.
OPTOMETRY AND VISION SCIENCE (2012)
Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15
Debra A. Thompson et al.
PLOS ONE (2012)
Environmental Enrichment Extends Photoreceptor Survival and Visual Function in a Mouse Model of Retinitis Pigmentosa
Ilaria Barone et al.
PLOS ONE (2012)
Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins
Nele Schwarz et al.
VISION RESEARCH (2012)
A Novel Role of Complement in Retinal Degeneration
Minzhong Yu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Retinoid Content, Visual Responses, and Ocular Morphology Are Compromised in the Retinas of Mice Lacking the Retinol-Binding Protein Receptor, STRA6
Alberto Ruiz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
An Allele of Microtubule-Associated Protein 1A (Mtap1a) Reduces Photoreceptor Degeneration in Tulp1 and Tub Mutant Mice
Dennis M. Maddox et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2012)
Intraflagellar transport proteins in ciliogenesis of photoreceptor cells
Tina Sedmak et al.
BIOLOGY OF THE CELL (2011)
Loss of MAP3K1 enhances proliferation and apoptosis during retinal development
Maureen Mongan et al.
DEVELOPMENT (2011)
Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation
Nicolas F. Berbari et al.
DEVELOPMENTAL BIOLOGY (2011)
The eye in metabolic diseases: Clues to diagnosis
B. T. Poll-The et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2011)
KASH protein Syne-2/Nesprin-2 and SUN proteins SUN1/2 mediate nuclear migration during mammalian retinal development
Juehua Yu et al.
HUMAN MOLECULAR GENETICS (2011)
A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration
Venkata R. M. Chavali et al.
HUMAN MOLECULAR GENETICS (2011)
Ccdc66 null mutation causes retinal degeneration and dysfunction
Wanda M. Gerding et al.
HUMAN MOLECULAR GENETICS (2011)
An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia
Suzanne Rix et al.
HUMAN MOLECULAR GENETICS (2011)
The Collaborative Cross: A Recombinant Inbred Mouse Population for the Systems Genetic Era
David W. Threadgill et al.
ILAR JOURNAL (2011)
Toll-like Receptor 3 Is Required for Development of Retinopathy Caused by Impaired All-trans-retinal Clearance in Mice
Satomi Shiose et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations
Sanae Sakami et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis
Corey L. Williams et al.
JOURNAL OF CELL BIOLOGY (2011)
G-Protein βγ-Complex Is Crucial for Efficient Signal Amplification in Vision
Alexander V. Kolesnikov et al.
JOURNAL OF NEUROSCIENCE (2011)
Loss of Shp2-Mediated Mitogen-Activated Protein Kinase Signaling in Muller Glial Cells Results in Retinal Degeneration
Zhigang Cai et al.
MOLECULAR AND CELLULAR BIOLOGY (2011)
IFT20 is required for opsin trafficking and photoreceptor outer segment development
Brian T. Keady et al.
MOLECULAR BIOLOGY OF THE CELL (2011)
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition
Francesc R. Garcia-Gonzalo et al.
NATURE GENETICS (2011)
Dominant Cone-Rod Dystrophy: A Mouse Model Generated by Gene Targeting of the GCAP1/Guca1a Gene
Prateek K. Buch et al.
PLOS ONE (2011)
RAS-converting enzyme 1-mediated endoproteolysis is required for trafficking of rod phosphodiesterase 6 to photoreceptor outer segments
Jeffrey R. Christiansen et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
An Alternative Splicing Variant in Clcn7-/- Mice Prevents Osteopetrosis but Not Neural and Retinal Degeneration
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VETERINARY PATHOLOGY (2011)
A mouse M-opsin monochromat: Retinal cone photoreceptors have increased M-opsin expression when S-opsin is knocked out
Lauren L. Daniele et al.
VISION RESEARCH (2011)
The dynamic architecture of photoreceptor ribbon synapses: Cytoskeletal, extracellular matrix, and intramembrane proteins
Aaron J. Mercer et al.
VISUAL NEUROSCIENCE (2011)
Mouse Model Resources for Vision Research
Jungyeon Won et al.
JOURNAL OF OPHTHALMOLOGY (2011)
Deletion of the p85α Regulatory Subunit of Phosphoinositide 3-Kinase in Cone Photoreceptor Cells Results in Cone Photoreceptor Degeneration
Ivana Ivanovic et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration
John J. Graziotto et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
The Role of Vldlr in Intraretinal Angiogenesis in Mice
Chun-hong Xia et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
Moderate Light-Induced Degeneration of Rod Photoreceptors with Delayed Transducin Translocation in shaker1 Mice
You-Wei Peng et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2011)
The Conserved Bardet-Biedl Syndrome Proteins Assemble a Coat that Traffics Membrane Proteins to Cilia
Hua Jin et al.
CELL (2010)
The disruption of the rod-derived cone viability gene leads to photoreceptor dysfunction and susceptibility to oxidative stress
T. Cronin et al.
CELL DEATH AND DIFFERENTIATION (2010)
IRD1 and IRD2 Mice, Naturally Occurring Models of Hereditary Retinal Dysfunction, Show Late-Onset and Progressive Retinal Degeneration
Makoto Miyamoto et al.
CURRENT EYE RESEARCH (2010)
Deafness and Retinal Degeneration in a Novel USH1C Knock-In Mouse Model
Jennifer J. Lentz et al.
DEVELOPMENTAL NEUROBIOLOGY (2010)
Inherited metabolic disorders involving the eye: a clinico-biochemical perspective
M. Rajappa et al.
EYE (2010)
Mutations of the Opsin Gene (Y102H and I307N) Lead to Light-induced Degeneration of Photoreceptors and Constitutive Activation of Phototransduction in Mice
Ewa Budzynski et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Heteromeric Interactions Required for Abundance and Subcellular Localization of Human CDC50 Proteins and Class 1 P4-ATPases
Lieke M. van der Velden et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
CDC50 Proteins Are Critical Components of the Human Class-1 P4-ATPase Transport Machinery
Susanne Bryde et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Neurodevelopmental Manifestations of Mitochondrial Disease
Marni J. Falk
JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS (2010)
Lipid second messengers and related enzymes in vertebrate rod outer segments
Norma M. Giusto et al.
JOURNAL OF LIPID RESEARCH (2010)
Thematic Review Series: Lipids and Lipid Metabolism in the Eye The ins and outs of cholesterol in the vertebrate retina
Steven J. Fliesler et al.
JOURNAL OF LIPID RESEARCH (2010)
Type 3 Deiodinase, a Thyroid-Hormone-Inactivating Enzyme, Controls Survival and Maturation of Cone Photoreceptors
Lily Ng et al.
JOURNAL OF NEUROSCIENCE (2010)
Centriolar Association of ALMS1 and Likely Centrosomal Functions of the ALMS Motif-containing Proteins C10orf90 and KIAA1731
Victoria J. Knorz et al.
MOLECULAR BIOLOGY OF THE CELL (2010)
Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait
Alan F. Wright et al.
NATURE REVIEWS GENETICS (2010)
Transcriptional regulation of photoreceptor development and homeostasis in the mammalian retina
Anand Swaroop et al.
NATURE REVIEWS NEUROSCIENCE (2010)
Intrinsically Photosensitive Retinal Ganglion Cells
Michael Tri Hoang Do et al.
PHYSIOLOGICAL REVIEWS (2010)
Phagocytosis of Retinal Rod and Cone Photoreceptors
Brian M. Kevany et al.
PHYSIOLOGY (2010)
Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice
James S. Friedman et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Cigarette smoking, oxidative stress, the anti-oxidant response through Nrf2 signaling, and Age-related Macular Degeneration
Marisol Cano et al.
VISION RESEARCH (2010)
Ablation of Whirlin Long Isoform Disrupts the USH2 Protein Complex and Causes Vision and Hearing Loss
Jun Yang et al.
PLOS GENETICS (2010)
Progressive Loss of Cones in Achromatopsia: An Imaging Study Using Spectral-Domain Optical Coherence Tomography
Alberta A. H. J. Thiadens et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Photoreceptor Degeneration, Azoospermia, Leukoencephalopathy, and Abnormal RPE Cell Function in Mice Expressing an Early Stop Mutation in CLCN2
Malia M. Edwards et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Synaptic Organization of the Vertebrate Retina: General Principles and Species-Specific Variations The Friedenwald Lecture
Samuel M. Wu
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Severe Retinal Degeneration Caused by a Novel Rhodopsin Mutation
Haiquan Liu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice
David A. Parry et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Principles of lysosomal membrane degradation Cellular topology and biochemistry of lysosomal lipid degradation
Heike Schulze et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)
TSPAN12 Regulates Retinal Vascular Development by Promoting Norrin- but Not Wnt-Induced FZD4/β-Catenin Signaling
Harald J. Junge et al.
CELL (2009)
Defective ciliogenesis, embryonic lethality and severe impairment of the Sonic Hedgehog pathway caused by inactivation of the mouse complex A intraflagellar transport gene Ift122/Wdr10, partially overlapping with the DNA repair gene Med1/Mbd4
Salvatore Cortellino et al.
DEVELOPMENTAL BIOLOGY (2009)
Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain
R. W. Stottmann et al.
DEVELOPMENTAL BIOLOGY (2009)
Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain
Marat Gorivodsky et al.
DEVELOPMENTAL BIOLOGY (2009)
Musashi-1, an RNA-binding protein, is indispensable for survival of photoreceptors
Kanako Susaki et al.
EXPERIMENTAL EYE RESEARCH (2009)
New mouse models for recessive retinitis pigmentosa caused by mutations in the Pde6a gene
Kenji Sakamoto et al.
HUMAN MOLECULAR GENETICS (2009)
RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
Jungyeon Won et al.
HUMAN MOLECULAR GENETICS (2009)
Docosahexaenoic acid attenuates microglial activation and delays early retinal degeneration
Stefanie Ebert et al.
JOURNAL OF NEUROCHEMISTRY (2009)
Visual Impairment in the Absence of Dystroglycan
Jakob S. Satz et al.
JOURNAL OF NEUROSCIENCE (2009)
Photoreceptor degeneration and retinal inflammation induced by very low-density lipoprotein receptor deficiency
Ying Chen et al.
MICROVASCULAR RESEARCH (2009)
Antioxidant Defenses in the Ocular Surface
Ying Chen et al.
OCULAR SURFACE (2009)
Functional interchangeability of rod and cone transducin α-subunits
Wen-Tao Deng et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Melatonin modulates visual function and cell viability in the mouse retina via the MT1 melatonin receptor
Kenkichi Baba et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Acid-Sensing Ion Channel 3 in Retinal Function and Survival
Mohammed Ettaiche et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
The Severity of Retinal Degeneration in Rp1h Gene-Targeted Mice Is Dependent on Genetic Background
Qin Liu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Dysfunction of the Retinal Pigment Epithelium with Age: Increased Iron Decreases Phagocytosis and Lysosomal Activity
Huiyi Chen et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2009)
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome
Vincent Cantagrel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Nicholas T. Gorden et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle
Jonna Tallila et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Retinal dysfunction and progressive retinal cell death in SOD1-deficient mice
Kouhei Hashizume et al.
AMERICAN JOURNAL OF PATHOLOGY (2008)
A missense mutation in the murine Opa3 gene models human Costeff syndrome
Vanessa J. Davies et al.
BRAIN (2008)
An essential role for frizzled 5 in mammalian ocular development
Chunqiao Liu et al.
DEVELOPMENT (2008)
Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors
Christine Insinna et al.
DEVELOPMENTAL DYNAMICS (2008)
Lipid and fatty acid profile of the retina, retinal pigment epithelium/choroid, and the lacrimal gland, and associations with adipose tissue fatty acids in human subjects
Lionel Bretillon et al.
EXPERIMENTAL EYE RESEARCH (2008)
Retinopathy in mice induced by disrupted all-trans-retinal clearance
Akiko Maeda et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2008)
Transducin γ-subunit sets expression levels of α- and β-subunits and is crucial for rod viability
Ekaterina S. Lobanova et al.
JOURNAL OF NEUROSCIENCE (2008)
Dicer inactivation leads to progressive functional and structural degeneration of the mouse retina
Devid Damiani et al.
JOURNAL OF NEUROSCIENCE (2008)
Mapping of genetic modifiers of Nr2e3rd7/rd7 that suppress retinal degeneration and restore blue cone cells to normal quantity
Neena B. Haider et al.
MAMMALIAN GENOME (2008)
Chronic Cigarette Smoke Causes Oxidative Damage and Apoptosis to Retinal Pigmented Epithelial Cells in Mice
Masashi Fujihara et al.
PLOS ONE (2008)
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
Carniel J. F. Boon et al.
PROGRESS IN RETINAL AND EYE RESEARCH (2008)
CD36 deficiency leads to choroidal involution via COX2 down-regulation in rodents
Marianne Houssier et al.
PLOS MEDICINE (2008)
Genetic modifiers of retinal degeneration in the rd3 mouse
Michael Danciger et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Interaction and colocalization of CaBP4 and Unc119 (MRG4) in photoreceptors
Francoise Haeseleer
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following vitamin A supplementation
Roxana A. Radu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
R91W mutation in Rpe65 leads to milder early-onset retinal dystrophy due to the generation of low levels of 11-cis-retinal
Marijana Samardzija et al.
HUMAN MOLECULAR GENETICS (2008)
Ultrastructural changes in a murine model of graded Bruch membrane lipoidal degeneration and corresponding VEGF(164) detection
Ursula Schmidt-Erfurth et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Expression of VLDLR in the retina and evolution of subretinal neovascularization in the knockout mouse model's retinal angiomatous proliferation
Wenzheng Hu et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2008)
Somatic ablation of the Lrat gene in the mouse retinal pigment epithelium drastically reduces its retinoid storage
Alberto Ruiz et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Antioxidants slow photoreceptor cell death in mouse models of retinitis pigmentosa
Keiichi Komeima et al.
JOURNAL OF CELLULAR PHYSIOLOGY (2007)
Mice lacking α/β subunits of G1cNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions
Claire M. Gelfman et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2007)
Complement factor H deficiency in aged mice causes retinal abnormalities and visual dysfunction
Peter J. Coffey et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration
Christophe Combadiere et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Development of Sensory, Motor and Behavioral Deficits in the Murine Model of Sanfilippo Syndrome Type B
Coy D. Heldermon et al.
PLOS ONE (2007)
SARA-regulated vesicular targeting underlies formation of the Light-Sensing organelle in mammalian rods
Jen-Zen Chuang et al.
CELL (2007)
Deletion of PrBP/δ impedes transport of GRK1 and PDE6 catalytic subunits to photoreceptor outer segments
H. Zhang et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The graded response to sonic hedgehog depends on cilia architecture
Tamara Caspary et al.
DEVELOPMENTAL CELL (2007)
The function of guanylate cyclase 1 and guanylate cyclase 2 in rod and cone photoreceptors
Wolfgang Baehr et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells
Xiaoqing Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Targeted inactivation of synaptic HRG4 (UNC119) causes dysfunction in the distal photoreceptor and slow retinal degeneration, revealing a new function
Yasutsugu Ishiba et al.
EXPERIMENTAL EYE RESEARCH (2007)
Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome
Theo G. M. F. Gorgels et al.
MOLECULAR AND CELLULAR BIOLOGY (2007)
Nonredundant role of Akt2 for neuroprotection of rod photoreceptor cells from light-induced cell death
Guiyuan Li et al.
JOURNAL OF NEUROSCIENCE (2007)
Impaired genome maintenance suppresses the growth hormone-insulin-like growth factor 1 axis in mice with Cockayne syndrome
Ingrid van der Pluijm et al.
PLOS BIOLOGY (2007)
Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice
Akiko Maeda et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans
Barbara Zangerl et al.
GENOMICS (2006)
Trafficking and signaling by fatty-acylated and prenylated proteins
Marilyn D. Resh
NATURE CHEMICAL BIOLOGY (2006)
Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2
Bo Chang et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration
Vidyullatha Vasireddy et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2006)
TAM receptor function in the retinal pigment epithelium
Dipti Prasad et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2006)
Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity
Erica R. Eichers et al.
HUMAN GENETICS (2006)
RB, the conductor that orchestrates life, death and differentiation
L. Khidr et al.
ONCOGENE (2006)
Wnt signaling: Multiple pathways, multiple receptors, and multiple transcription factors
Michael D. Gordon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
The primary cilium as the cell's antenna: Signaling at a sensory organelle
Veena Singla et al.
SCIENCE (2006)
Light and inherited retinal degeneration
D. M. Paskowitz et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2006)
Antioxidants reduce cone cell death in a model of retinitis pigmentosa
Keiichi Komeima et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development
JJ Schrick et al.
AMERICAN JOURNAL OF PATHOLOGY (2006)
Smoking and age related macular degeneration: the number of pack years of cigarette smoking is a major determinant of risk for both geographic atrophy and choroidal neovascularisation
JC Khan et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2006)
The nob2 mouse, a null mutation in Cacnalf: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses
B Chang et al.
VISUAL NEUROSCIENCE (2006)
Generation, characterization, and molecular cloning of the Noerg-1 mutation of rhodopsin in the mouse
LH Pinto et al.
VISUAL NEUROSCIENCE (2005)
Apolipoprotein E allele-dependent pathogenesis: A model for age-related retinal degeneration
G Malek et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Alms1-disrupted mice recapitulate human Alstrom syndrome
GB Collin et al.
HUMAN MOLECULAR GENETICS (2005)
Targeted disruption of FSCN2 gene induces retinopathy in mice
S Yokokura et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2005)
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein
OH Sundin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
The retinal pigment epithelium in visual function
O Strauss
PHYSIOLOGICAL REVIEWS (2005)
The Wnt signaling pathway in retinal degenerations
AS Hackam
IUBMB LIFE (2005)
Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice:: A model for macular degeneration
G Karan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration
D Kasper et al.
EMBO JOURNAL (2005)
Insulin receptor substrate 2 is essential for maturation and survival of photoreceptor cells
XJ Yi et al.
JOURNAL OF NEUROSCIENCE (2005)
The disintegrin domain of ADAM9:: a ligand for multiple β1 renal integrins
RM Mahimkar et al.
BIOCHEMICAL JOURNAL (2005)
Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1
S Hüttl et al.
JOURNAL OF NEUROSCIENCE (2005)
Lecithin-retinol acyltransferase is essential for accumulation of all-trans-retinyl esters in the eye and in the liver
ML Batten et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Acid-sensing ion channel 2 is important for retinal function and protects against light-induced retinal degeneration
M Ettaiche et al.
JOURNAL OF NEUROSCIENCE (2004)
Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function
F Haeseleer et al.
NATURE NEUROSCIENCE (2004)
Disruption of ceruloplasmin and hephaestin in mice causes retinal iron overload and retinal degeneration with features of age-related macular degeneration
P Hahn et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
AIPL1, the protein that is defective in Leber congenital amaurosis, is essential for the biosynthesis of retinal rod cGMP phosphodiesterase
XQ Liu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Leber congenital amaurosis linked to AIPL1: A mouse model reveals destabilization of cGMP phosphodiesterase
V Ramamurthy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
RS-1 gene delivery to an adult Rs1h knockout mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis
Y Zeng et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2004)
Crumbs homologue 1 is required for maintenance of photoreceptor cell polarization and adhesion during light exposure
SA van de Pavert et al.
JOURNAL OF CELL SCIENCE (2004)
Light deprivation slows but does not prevent the loss of photoreceptors in taurine transporter knockout mice
K Rascher et al.
VISION RESEARCH (2004)
Innate immunity in the retina: Toll-like receptor (TLR) signaling in human retinal pigment epithelial cells
MV Kumar et al.
JOURNAL OF NEUROIMMUNOLOGY (2004)
Retinal degeneration in Aipl1-deficient mice:: a new genetic model of Leber congenital amaurosis
MA Dyer et al.
MOLECULAR BRAIN RESEARCH (2004)
Impaired formation of the inner retina in an AChE knockout mouse results in degeneration of all photoreceptors
AH Bytyqi et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2004)
Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly
K Mykytyn et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
An animal model of age-related macular degeneration in senescent Ccl-2-or Ccr-2-deficient mice
J Ambati et al.
NATURE MEDICINE (2003)
Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis
ML Woodruff et al.
NATURE GENETICS (2003)
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
AK Mehalow et al.
HUMAN MOLECULAR GENETICS (2003)
Blindness and auditory impairment caused by loss of the sodium bicarbonate cotransporter NBC3
D Bok et al.
NATURE GENETICS (2003)
An engineered 800 kilobase deletion of Uchl3 and Lmo7 on mouse chromosome 14 causes defects in viability, postnatal growth and degeneration of muscle and retina
E Semenova et al.
HUMAN MOLECULAR GENETICS (2003)
The retinitis pigmentosa GTPase regulator (RPGR)-interacting protein: Subserving RPGR function and participating in disk morphogenesis
Y Zhao et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)
An RCS-like retinal dystrophy phenotype in Mer knockout mice
JL Duncan et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)
M Michaelides et al.
BRITISH JOURNAL OF OPHTHALMOLOGY (2003)
Altered GABAergic function accompanies hippocampal degeneration in mice lacking ClC-3 voltage-gated chloride channels
LW Dickerson et al.
BRAIN RESEARCH (2002)
Subunit stoichiometry of the CNG channel of rod photoreceptors
D Weitz et al.
NEURON (2002)
Rod cyclic nucleotide-gated channels have a stoichiometry of three CNGA1 subunits and one CNG131 subunit
J Zheng et al.
NEURON (2002)
Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6
S Kameya et al.
HUMAN MOLECULAR GENETICS (2002)
Manipulation of cholesterol levels in rod disk membranes by methyl-β-cyclodextrin.: Effects on receptor activation.
SL Niu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene
N McNally et al.
HUMAN MOLECULAR GENETICS (2002)
Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome
T Hearn et al.
NATURE GENETICS (2002)
Octanoate attenuates adipogenesis in 3T3-L1 preadipocytes
JR Han et al.
JOURNAL OF NUTRITION (2002)
Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome
GB Collin et al.
NATURE GENETICS (2002)
The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance
GJ Pazour et al.
JOURNAL OF CELL BIOLOGY (2002)
Retinal degeneration mutants in the mouse
B Chang et al.
VISION RESEARCH (2002)
Delayed-onset ataxia in mice lacking α-tocopherol transfer protein:: Model for neuronal degeneration caused by chronic oxidative stress
T Yokota et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Disruption of the taurine transporter gene (taut) leads to retinal degeneration in mice
B Heller-Stilb et al.
FASEB JOURNAL (2001)
Role of guanylate cyclase-activating proteins (GCAPs) in setting the flash sensitivity of rod photoreceptors
A Mendez et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)
Comparative structural and functional analysis of photoreceptor neurons of Rho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background
MM Humphries et al.
VISUAL NEUROSCIENCE (2001)
Male germ cells and photoreceptors, both dependent on close cell-cell interactions, degenerate upon ClC-2Cl- channel disruption
MR Bösl et al.
EMBO JOURNAL (2001)
Loss of the CIC-7 chloride channel leads to osteopetrosis in mice and man
U Kornak et al.
CELL (2001)
Disruption of CIC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus
SM Stobrawa et al.
NEURON (2001)
A thyroid hormone receptor that is required for the development of green cone photoreceptors
L Ng et al.
NATURE GENETICS (2001)
Phototransduction in transgenic mice after targeted deletion of the rod transducin α-subunit
PD Calvert et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)
A one-hit model of cell death in inherited neuronal degenerations
G Clarke et al.
NATURE (2000)
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis
G Clarke et al.
NATURE GENETICS (2000)
The Str mouse as a model for Incontinentia pigmenti
T Perkovic et al.
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2000)
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