Rapid cohort generation and analysis of disease spectrum of large animal model of cone dystrophy.

PubWeight™: 0.79‹?›

🔗 View Article (PMC 3747164)

Published in PLoS One on August 19, 2013

Authors

Corinne Kostic1, Simon Geoffrey Lillico, Sylvain Vincent Crippa, Nicolas Grandchamp, Héloïse Pilet, Stéphanie Philippe, Zen Lu, Tim James King, Jacques Mallet, Chamsy Sarkis, Yvan Arsenijevic, Christopher Bruce Alexander Whitelaw

Author Affiliations

1: Unit of Gene Therapy and Stem Cell Biology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.

Articles cited by this

MUSCLE: multiple sequence alignment with high accuracy and high throughput. Nucleic Acids Res (2004) 168.89

Germline transmission and tissue-specific expression of transgenes delivered by lentiviral vectors. Science (2002) 17.71

Retinitis pigmentosa. Lancet (2006) 13.62

MATCH: A tool for searching transcription factor binding sites in DNA sequences. Nucleic Acids Res (2003) 11.82

Obese and diabetes: two mutant genes causing diabetes-obesity syndromes in mice. Diabetologia (1978) 5.21

Towards a transgenic model of Huntington's disease in a non-human primate. Nature (2008) 4.47

zPicture: dynamic alignment and visualization tool for analyzing conservation profiles. Genome Res (2004) 4.26

Transgenesis by lentiviral vectors: lack of gene silencing in mammalian embryonic stem cells and preimplantation embryos. Proc Natl Acad Sci U S A (2002) 3.53

The influence of genetic background on the expression of the obese (Ob) gene in the mouse. Diabetologia (1973) 2.83

The Min (multiple intestinal neoplasia) mutation: its effect on gut epithelial cell differentiation and interaction with a modifier system. J Cell Biol (1992) 2.76

Cone rod dystrophies. Orphanet J Rare Dis (2007) 2.73

Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet (1996) 2.65

Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa. Nat Biotechnol (1997) 2.42

Host genetic background strongly influences the response to influenza a virus infections. PLoS One (2009) 2.28

ISCEV standard for clinical electro-oculography (2010 update). Doc Ophthalmol (2011) 2.21

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A (2012) 2.12

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. Hum Mol Genet (1998) 1.84

Mouse cone arrestin expression pattern: light induced translocation in cone photoreceptors. Mol Vis (2002) 1.78

Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy. Hum Mol Genet (2011) 1.47

Distribution and density of medium- and short-wavelength selective cones in the domestic pig retina. Exp Eye Res (2002) 1.43

Lentiviral vectors: are they the future of animal transgenesis? Physiol Genomics (2007) 1.42

Porcine transcriptome analysis based on 97 non-normalized cDNA libraries and assembly of 1,021,891 expressed sequence tags. Genome Biol (2007) 1.39

Genetic modification of the phenotypes produced by amyloid precursor protein overexpression in transgenic mice. Hum Mol Genet (1997) 1.30

Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. Arch Ophthalmol (2001) 1.24

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest Ophthalmol Vis Sci (2008) 1.21

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. Ophthalmology (2000) 1.20

Transgenic rhesus monkeys produced by gene transfer into early-cleavage-stage embryos using a simian immunodeficiency virus-based vector. Proc Natl Acad Sci U S A (2010) 1.18

Functional characterization of missense mutations at codon 838 in retinal guanylate cyclase correlates with disease severity in patients with autosomal dominant cone-rod dystrophy. Hum Mol Genet (2000) 1.17

Oviduct-specific expression of two therapeutic proteins in transgenic hens. Proc Natl Acad Sci U S A (2007) 1.16

Swine in biomedical research: creating the building blocks of animal models. Anim Biotechnol (2005) 1.15

Understanding hereditary diseases using the dog and human as companion model systems. Mamm Genome (2007) 1.09

Efficient generation of transgenic pigs using equine infectious anaemia virus (EIAV) derived vector. FEBS Lett (2004) 1.07

Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa. Mol Vis (2000) 1.03

Factors that determine Ca2+ sensitivity of photoreceptor guanylyl cyclase. Kinetic analysis of the interaction between the Ca2+-bound and the Ca2+-free guanylyl cyclase activating proteins (GCAPs) and recombinant photoreceptor guanylyl cyclase 1 (RetGC-1). Biochemistry (2004) 1.02

Mouse models of cystic fibrosis. Trends Genet (2001) 1.00

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death. Hum Mol Genet (2009) 1.00

Insights from animal models on the origins and progression of retinoblastoma. Curr Mol Med (2006) 1.00

Working and reference memory of pigs in the spatial holeboard discrimination task. Behav Brain Res (2009) 0.99

Cognitive testing of pigs (Sus scrofa) in translational biobehavioral research. Neurosci Biobehav Rev (2010) 0.94

Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations. PLoS One (2011) 0.94

The challenge of modeling macular degeneration in mice. Trends Genet (2007) 0.93

A recurrent mutation in GUCY2D associated with autosomal dominant cone dystrophy in a Chinese family. Mol Vis (2011) 0.92

Mouse cone arrestin gene characterization: promoter targets expression to cone photoreceptors. FEBS Lett (2002) 0.92

Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. Mol Vis (2011) 0.92

The pig as a model animal for studying cognition and neurobehavioral disorders. Curr Top Behav Neurosci (2011) 0.90

Transgenic rabbit production with simian immunodeficiency virus-derived lentiviral vector. Transgenic Res (2010) 0.89

Deciphering the contribution of known cis-elements in the mouse cone arrestin gene to its cone-specific expression. Invest Ophthalmol Vis Sci (2004) 0.87

Transgenic sheep designed for transplantation studies. Mol Reprod Dev (2009) 0.85

Remaining rod activity mediates visual behavior in adult Rpe65-/- mice. Invest Ophthalmol Vis Sci (2010) 0.85

Use of spectral domain-optical coherence tomography to visualize photoreceptor abnormalities in cone-rod dystrophy 6. Retin Cases Brief Rep (2011) 0.83

Truncation and mutagenesis analysis of the human X-arrestin gene promoter. Gene (2004) 0.82

The influence of the zebrafish genetic background on Parkinson's disease-related aspects. Zebrafish (2011) 0.82

Functional and structural changes in the retina of wire-haired dachshunds with early-onset cone-rod dystrophy. Invest Ophthalmol Vis Sci (2008) 0.82

How do miniature pigs discriminate between people?. Discrimination between people wearing coveralls of the same colour. Appl Anim Behav Sci (2001) 0.78

Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants. Ophthalmic Res (2010) 0.78

Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology. Exp Eye Res (2013) 0.77

A slowly progressive retinopathy in the Shetland Sheepdog. Vet Ophthalmol (2011) 0.77

Articles by these authors

Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44

Ink4a and Arf differentially affect cell proliferation and neural stem cell self-renewal in Bmi1-deficient mice. Genes Dev (2005) 3.89

Gene networks inference using dynamic Bayesian networks. Bioinformatics (2003) 2.74

Serotonin has a key role in pathogenesis of experimental colitis. Gastroenterology (2009) 2.55

Essential roles of enteric neuronal serotonin in gastrointestinal motility and the development/survival of enteric dopaminergic neurons. J Neurosci (2011) 2.21

Disruption of the nonneuronal tph1 gene demonstrates the importance of peripheral serotonin in cardiac function. Proc Natl Acad Sci U S A (2003) 2.19

BIGH3 mutation spectrum in corneal dystrophies. Invest Ophthalmol Vis Sci (2002) 2.19

Facile isolation and the characterization of human retinal stem cells. Proc Natl Acad Sci U S A (2004) 2.18

Systems medicine and integrated care to combat chronic noncommunicable diseases. Genome Med (2011) 1.78

Maternal serotonin is crucial for murine embryonic development. Proc Natl Acad Sci U S A (2006) 1.75

Lentiviral vectors with a defective integrase allow efficient and sustained transgene expression in vitro and in vivo. Proc Natl Acad Sci U S A (2006) 1.74

Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. PLoS Med (2006) 1.67

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc Natl Acad Sci U S A (2002) 1.67

No major schizophrenia locus detected on chromosome 1q in a large multicenter sample. Science (2002) 1.57

Smoking induces long-lasting effects through a monoamine-oxidase epigenetic regulation. PLoS One (2009) 1.53

Bmi1 loss produces an increase in astroglial cells and a decrease in neural stem cell population and proliferation. J Neurosci (2005) 1.48

Neurotoxic activation of microglia is promoted by a nox1-dependent NADPH oxidase. J Neurosci (2008) 1.34

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.29

PA700, the regulatory complex of the 26S proteasome, interferes with alpha-synuclein assembly. FEBS J (2005) 1.23

Perinatal undernutrition affects the methylation and expression of the leptin gene in adults: implication for the understanding of metabolic syndrome. FASEB J (2011) 1.23

TIMP-1 abolishes MMP-9-dependent long-lasting long-term potentiation in the prefrontal cortex. Biol Psychiatry (2007) 1.22

NB-3/Notch1 pathway via Deltex1 promotes neural progenitor cell differentiation into oligodendrocytes. J Biol Chem (2004) 1.22

SOCS3-mediated blockade of JAK/STAT3 signaling pathway reveals its major contribution to spinal cord neuroinflammation and mechanical allodynia after peripheral nerve injury. J Neurosci (2010) 1.18

Silencing of OB-RGRP in mouse hypothalamic arcuate nucleus increases leptin receptor signaling and prevents diet-induced obesity. Proc Natl Acad Sci U S A (2007) 1.17

Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate. Invest Ophthalmol Vis Sci (2007) 1.16

Human retinoic acid receptor-related orphan receptor alpha1 overexpression protects neurones against oxidative stress-induced apoptosis. J Neurochem (2006) 1.15

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies. Hum Mol Genet (2012) 1.15

Non-integrating lentiviral vectors. Curr Gene Ther (2008) 1.13

Inducible cAMP early repressor, an endogenous antagonist of cAMP responsive element-binding protein, evokes neuronal apoptosis in vitro. J Neurosci (2003) 1.12

Grafts of brain-derived neurotrophic factor and neurotrophin 3-transduced primate Schwann cells lead to functional recovery of the demyelinated mouse spinal cord. J Neurosci (2005) 1.09

Induction of apoptosis in human corneal and HeLa cells by mutated BIGH3. Invest Ophthalmol Vis Sci (2003) 1.08

A single lentivirus vector mediates doxycycline-regulated expression of transgenes in the brain. Hum Gene Ther (2004) 1.08

Retinoid-related orphan receptor alpha controls the early steps of Purkinje cell dendritic differentiation. J Neurosci (2006) 1.06

Recent advances in understanding serotonin regulation of cardiovascular function. Trends Mol Med (2004) 1.05

Beta cells within single human islets originate from multiple progenitors. PLoS One (2008) 1.05

Genome-wide association study of multiplex schizophrenia pedigrees. Am J Psychiatry (2012) 1.05

Lentiviral-mediated targeted NF-kappaB blockade in dorsal spinal cord glia attenuates sciatic nerve injury-induced neuropathic pain in the rat. Mol Ther (2007) 1.04

Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders. Biol Psychiatry (2008) 1.01

Conditional NF-L transgene expression in mice for in vivo analysis of turnover and transport rate of neurofilaments. J Neurosci (2007) 1.01

Caveolin-1 opens endothelial cell junctions by targeting catenins. Cardiovasc Res (2011) 1.00

In conditions of limited chromophore supply rods entrap 11-cis-retinal leading to loss of cone function and cell death. Hum Mol Genet (2009) 1.00

Delivery of ciliary neurotrophic factor via lentiviral-mediated transfer protects axotomized retinal ganglion cells for an extended period of time. Hum Gene Ther (2003) 0.99

Towards therapeutic application of ocular stem cells. Semin Cell Dev Biol (2007) 0.99

Serotonin activates dendritic cell function in the context of gut inflammation. Am J Pathol (2011) 0.98

Ineffective erythropoiesis with reduced red blood cell survival in serotonin-deficient mice. Proc Natl Acad Sci U S A (2011) 0.98

BDNF-induced white matter neuroprotection and stage-dependent neuronal survival following a neonatal excitotoxic challenge. Cereb Cortex (2004) 0.96

High yield of cells committed to the photoreceptor fate from expanded mouse retinal stem cells. Stem Cells (2006) 0.96

ROCK inhibitor enhances adhesion and wound healing of human corneal endothelial cells. PLoS One (2013) 0.96

Retinal cell type expression specificity of HIV-1-derived gene transfer vectors upon subretinal injection in the adult rat: influence of pseudotyping and promoter. J Gene Med (2005) 0.94

Lentiviral vectors mediate nonimmunosuppressive rapamycin analog-induced production of secreted therapeutic factors in the brain: regulation at the level of transcription and exocytosis. Hum Gene Ther (2008) 0.92

Lentiviral-mediated targeted transgene expression in dorsal spinal cord glia: tool for the study of glial cell implication in mechanisms underlying chronic pain development. J Neurosci Methods (2007) 0.92

SCLIP is crucial for the formation and development of the Purkinje cell dendritic arbor. J Neurosci (2008) 0.91

Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproduction. PLoS Genet (2013) 0.91

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene. Graefes Arch Clin Exp Ophthalmol (2006) 0.91

Reduction of choroidal neovascularization in mice by adeno-associated virus-delivered anti-vascular endothelial growth factor short hairpin RNA. J Gene Med (2012) 0.90

Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin. J Neurochem (2006) 0.88

Zinc finger protein 191 (ZNF191/Zfp191) is necessary to maintain neural cells as cycling progenitors. Stem Cells (2009) 0.88

Retinal stem cells: promising candidates for retina transplantation. Cell Tissue Res (2007) 0.88

D-TAT transporter as an ocular peptide delivery system. Clin Experiment Ophthalmol (2005) 0.88

Grafted human embryonic progenitors expressing neurogenin-2 stimulate axonal sprouting and improve motor recovery after severe spinal cord injury. PLoS One (2010) 0.88

A new strategy to generate functional insulin-producing cell lines by somatic gene transfer into pancreatic progenitors. PLoS One (2009) 0.88

Control of small inhibitory RNA levels and RNA interference by doxycycline induced activation of a minimal RNA polymerase III promoter. Nucleic Acids Res (2006) 0.87

The fetal hypothalamus has the potential to generate cells with a gonadotropin releasing hormone (GnRH) phenotype. PLoS One (2009) 0.87

A novel and efficient gene transfer strategy reduces glial reactivity and improves neuronal survival and axonal growth in vitro. PLoS One (2009) 0.87

Efficient myelin repair in the macaque spinal cord by autologous grafts of Schwann cells. Brain (2005) 0.86

Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) mice. PLoS One (2011) 0.86

Expression of the transcription factor Zfp191 during embryonic development in the mouse. Gene Expr Patterns (2007) 0.86

Targeting conditional gene modification into the serotonin neurons of the dorsal raphe nucleus by viral delivery of the Cre recombinase. Mol Cell Neurosci (2003) 0.86

Maternal serotonin influences cardiac function in adult offspring. FASEB J (2008) 0.86

Optimization of transgene expression at the posttranscriptional level in neural cells: implications for gene therapy. Mol Ther (2003) 0.86

Remaining rod activity mediates visual behavior in adult Rpe65-/- mice. Invest Ophthalmol Vis Sci (2010) 0.85

Differential amplification of intron-containing transcripts reveals long term potentiation-associated up-regulation of specific Pde10A phosphodiesterase splice variants. J Biol Chem (2004) 0.85

Generation of functional neurons from feeder-free, keratinocyte-derived equine induced pluripotent stem cells. Stem Cells Dev (2014) 0.85

Silencing of choline acetyltransferase expression by lentivirus-mediated RNA interference in cultured cells and in the adult rodent brain. J Neurosci Res (2009) 0.85

Cell death and neuronal differentiation of glioblastoma stem-like cells induced by neurogenic transcription factors. Glia (2012) 0.85

The tissue-specific methylation of the human tyrosine hydroxylase gene reveals new regulatory elements in the first exon. J Neurochem (2005) 0.85

ZENON, a novel POZ Kruppel-like DNA binding protein associated with differentiation and/or survival of late postmitotic neurons. Mol Cell Biol (2005) 0.84

1-methyl-4-phenylpyridinium neurotoxicity is attenuated by adenoviral gene transfer of human Cu/Zn superoxide dismutase. J Neurosci Res (2006) 0.84

Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient. J Neurol Neurosurg Psychiatry (2010) 0.84

Lenti-GDNF gene therapy protects against Alzheimer's disease-like neuropathology in 3xTg-AD mice and MC65 cells. CNS Neurosci Ther (2014) 0.84

Epidermal growth factor is a neuronal differentiation factor for retinal stem cells in vitro. Stem Cells (2005) 0.83

Long-term expression of beta-glucuronidase by genetically modified human neural progenitor cells grafted into the mouse central nervous system. Mol Cell Neurosci (2002) 0.83

Lentiviral-mediated gene transfer of brain-derived neurotrophic factor is neuroprotective in a mouse model of neonatal excitotoxic challenge. J Neurosci Res (2006) 0.83

Expression of PRiMA in the mouse brain: membrane anchoring and accumulation of 'tailed' acetylcholinesterase. Eur J Neurosci (2003) 0.83

CNS regeneration: a morphogen's tale. J Neurobiol (2005) 0.82

Retinal degeneration depends on Bmi1 function and reactivation of cell cycle proteins. Proc Natl Acad Sci U S A (2013) 0.82

Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice. Mol Vis (2008) 0.82

Differential expression and regulation of the high-affinity choline transporter CHT1 and choline acetyltransferase in neurons of superior cervical ganglia. Mol Cell Neurosci (2005) 0.82

Retinal degeneration progression changes lentiviral vector cell targeting in the retina. PLoS One (2011) 0.82

More than one way to toy with ChAT and VAChT. J Physiol Paris (2001) 0.81