Alternative splicing and retinal degeneration.

RNA mis-splicing in disease. Nat Rev Genet (2015) 1.41

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services. Gene (2013) 1.09

Functional consequences of splicing of the antisense transcript COOLAIR on FLC transcription. Mol Cell (2014) 1.07

A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans. Genetics (2014) 0.96

SNW1 enables sister chromatid cohesion by mediating the splicing of sororin and APC2 pre-mRNAs. EMBO J (2014) 0.91

An atlas of gene expression and gene co-regulation in the human retina. Nucleic Acids Res (2016) 0.81

Pre-mRNA Splicing in Plants: In Vivo Functions of RNA-Binding Proteins Implicated in the Splicing Process. Biomolecules (2015) 0.80

Mutations in pre-mRNA processing factors 3, 8, and 31 cause dysfunction of the retinal pigment epithelium. Am J Pathol (2014) 0.79

NRL-Regulated Transcriptome Dynamics of Developing Rod Photoreceptors. Cell Rep (2016) 0.79

Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness. Int J Mol Sci (2015) 0.79

Identification of an Alternative Splicing Product of the Otx2 Gene Expressed in the Neural Retina and Retinal Pigmented Epithelial Cells. PLoS One (2016) 0.76

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones. PLoS One (2016) 0.75

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa. Sci Rep (2017) 0.75

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa. Sci Rep (2016) 0.75

Dynamic landscape of alternative polyadenylation during retinal development. Cell Mol Life Sci (2016) 0.75

Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem (2003) 21.11

Genome-wide survey of human alternative pre-mRNA splicing with exon junction microarrays. Science (2003) 16.80

Retinitis pigmentosa. Lancet (2006) 13.62

Exonic splicing enhancers: mechanism of action, diversity and role in human genetic diseases. Trends Biochem Sci (2000) 10.77

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet (1992) 8.20

Alternative pre-mRNA splicing: the logic of combinatorial control. Trends Biochem Sci (2000) 7.54

Mechanisms of alternative splicing regulation: insights from molecular and genomics approaches. Nat Rev Mol Cell Biol (2009) 7.11

Genome-wide detection of tissue-specific alternative splicing in the human transcriptome. Nucleic Acids Res (2002) 6.71

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum Mol Genet (2000) 4.42

Finding splice sites within a wilderness of RNA. RNA (1995) 4.35

Genome-wide RNAi screen identifies human host factors crucial for influenza virus replication. Nature (2010) 4.23

Splicing factor SF3b as a target of the antitumor natural product pladienolide. Nat Chem Biol (2007) 3.97

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. Hum Mol Genet (2006) 3.90

RNA therapeutics: beyond RNA interference and antisense oligonucleotides. Nat Rev Drug Discov (2012) 3.70

Neuronal regulation of alternative pre-mRNA splicing. Nat Rev Neurosci (2007) 3.45

Prevalence of retinitis pigmentosa in Maine. Am J Ophthalmol (1984) 3.30

A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Mol Cell (2001) 3.07

Spinal muscular atrophy. Lancet (2008) 2.92

Prp8 protein: at the heart of the spliceosome. RNA (2005) 2.89

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa. Nat Genet (2000) 2.82

Treatment of spinal muscular atrophy by sodium butyrate. Proc Natl Acad Sci U S A (2001) 2.56

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). Hum Mol Genet (2001) 2.48

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.34

Manipulation of alternative splicing by a newly developed inhibitor of Clks. J Biol Chem (2004) 2.26

Pre-mRNA splicing in disease and therapeutics. Trends Mol Med (2012) 2.23

Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. EMBO J (2002) 2.11

Distributions of exons and introns in the human genome. In Silico Biol (2004) 2.06

Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice. Hum Mol Genet (2001) 1.92

Aclarubicin treatment restores SMN levels to cells derived from type I spinal muscular atrophy patients. Hum Mol Genet (2001) 1.80

Sudemycins, novel small molecule analogues of FR901464, induce alternative gene splicing. ACS Chem Biol (2011) 1.77

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Am J Hum Genet (2009) 1.73

Regulation of vascular endothelial growth factor (VEGF) splicing from pro-angiogenic to anti-angiogenic isoforms: a novel therapeutic strategy for angiogenesis. J Biol Chem (2009) 1.68

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins. J Biol Chem (2005) 1.67

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6. Hum Mol Genet (2002) 1.63

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2003) 1.40

Pre-mRNA splicing and retinitis pigmentosa. Mol Vis (2006) 1.32

Tetracyclines that promote SMN2 exon 7 splicing as therapeutics for spinal muscular atrophy. Sci Transl Med (2009) 1.30

Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations. Am J Ophthalmol (2002) 1.28

A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Am J Hum Genet (2011) 1.26

Analysis of the RPGR gene in 11 pedigrees with the retinitis pigmentosa type 3 genotype: paucity of mutations in the coding region but splice defects in two families. Am J Hum Genet (1997) 1.25

A frame shift mutation in a tissue-specific alternatively spliced exon of collagen 2A1 in Wagner's vitreoretinal degeneration. Am J Ophthalmol (2002) 1.25

Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. Eur J Hum Genet (2002) 1.20

Prp31p promotes the association of the U4/U6 x U5 tri-snRNP with prespliceosomes to form spliceosomes in Saccharomyces cerevisiae. Mol Cell Biol (1997) 1.19

Mutations of RPGR in X-linked retinitis pigmentosa (RP3). Hum Mutat (2002) 1.15

Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. Am J Med Genet A (2003) 1.14

Identification and characterization of a novel RPGR isoform in human retina. Hum Mutat (2007) 1.13

A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Mol Vis (2004) 1.11

Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Hum Mol Genet (2002) 1.11

The development and application of small molecule modulators of SF3b as therapeutic agents for cancer. Drug Discov Today (2012) 1.10

Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol (2003) 1.10

Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells. J Neurosci (2005) 1.09

Dominant, gain-of-function mutant produced by truncation of RPGR. Invest Ophthalmol Vis Sci (2004) 1.07

Regulation of alternative splicing of human tau exon 10 by phosphorylation of splicing factors. Mol Cell Neurosci (2001) 1.07

Chemical treatment enhances skipping of a mutated exon in the dystrophin gene. Nat Commun (2011) 1.05

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Hum Mol Genet (2011) 1.04

Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. Invest Ophthalmol Vis Sci (2009) 1.03

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC Med Genet (2010) 1.03

Stress-responsive maturation of Clk1/4 pre-mRNAs promotes phosphorylation of SR splicing factor. J Cell Biol (2011) 1.02

Small molecule amiloride modulates oncogenic RNA alternative splicing to devitalize human cancer cells. PLoS One (2011) 0.99

Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells. Hum Mol Genet (2007) 0.96

Identification of alternatively spliced variants of type II procollagen in vitreous. Biochem Biophys Res Commun (1994) 0.96

Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP. PLoS One (2011) 0.95

Association of PAP-1 and Prp3p, the products of causative genes of dominant retinitis pigmentosa, in the tri-snRNP complex. Exp Cell Res (2005) 0.95

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells. Mol Ther (2011) 0.95

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa. Neurobiol Dis (2007) 0.95

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. Invest Ophthalmol Vis Sci (2011) 0.94

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. Hum Mutat (2011) 0.94

Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2011) 0.87

Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa. Hum Mutat (2008) 0.86

Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration. Invest Ophthalmol Vis Sci (2011) 0.84

Mutation- and tissue-specific alterations of RPGR transcripts. Invest Ophthalmol Vis Sci (2009) 0.83

A presumed missense mutation of RPGR causes abnormal RNA splicing with exon skipping. Am J Ophthalmol (2004) 0.78

Crx, a novel Otx-like paired-homeodomain protein, binds to and transactivates photoreceptor cell-specific genes. Neuron (1997) 4.33

Retinal ganglion cell death in experimental glaucoma and after axotomy occurs by apoptosis. Invest Ophthalmol Vis Sci (1995) 3.78

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet (2001) 3.52

A locus control region adjacent to the human red and green visual pigment genes. Neuron (1992) 2.87

Transgenic mice with increased expression of vascular endothelial growth factor in the retina: a new model of intraretinal and subretinal neovascularization. Am J Pathol (1997) 2.73

De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. Nat Genet (1998) 2.53

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. Neuron (1997) 2.34

Hypoxia inducible factor-1alpha is increased in ischemic retina: temporal and spatial correlation with VEGF expression. Invest Ophthalmol Vis Sci (1999) 2.23

Retrograde axonal transport of BDNF in retinal ganglion cells is blocked by acute IOP elevation in rats. Invest Ophthalmol Vis Sci (2000) 2.18

Obstructed axonal transport of BDNF and its receptor TrkB in experimental glaucoma. Invest Ophthalmol Vis Sci (2000) 2.14

TUNEL-positive ganglion cells in human primary open-angle glaucoma. Arch Ophthalmol (1997) 2.11

Rin, a neuron-specific and calmodulin-binding small G-protein, and Rit define a novel subfamily of ras proteins. J Neurosci (1996) 2.06

Pigment epithelium-derived factor inhibits retinal and choroidal neovascularization. J Cell Physiol (2001) 1.94

The basic motif-leucine zipper transcription factor Nrl can positively regulate rhodopsin gene expression. Proc Natl Acad Sci U S A (1996) 1.91

Leber congenital amaurosis caused by a homozygous mutation (R90W) in the homeodomain of the retinal transcription factor CRX: direct evidence for the involvement of CRX in the development of photoreceptor function. Hum Mol Genet (1999) 1.80

A mutation in NRL is associated with autosomal dominant retinitis pigmentosa. Nat Genet (1999) 1.79

The leucine zipper of NRL interacts with the CRX homeodomain. A possible mechanism of transcriptional synergy in rhodopsin regulation. J Biol Chem (2000) 1.76

Evolution of neovascularization in mice with overexpression of vascular endothelial growth factor in photoreceptors. Invest Ophthalmol Vis Sci (1998) 1.68

Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease. Ophthalmic Genet (1999) 1.66

Neurotrophic factors cause activation of intracellular signaling pathways in Müller cells and other cells of the inner retina, but not photoreceptors. Invest Ophthalmol Vis Sci (2000) 1.48

Cloning and characterization of rod opsin cDNA from the Old World monkey, Macaca fascicularis. Invest Ophthalmol Vis Sci (1995) 1.39

Of mice and men: what mice can teach us about human ophthalmic disease. Arch Ophthalmol (1993) 1.39

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene. Invest Ophthalmol Vis Sci (1998) 1.30

The bZIP transcription factor Nrl stimulates rhodopsin promoter activity in primary retinal cell cultures. J Biol Chem (1996) 1.30

Cloning and characterization of a human beta,beta-carotene-15,15'-dioxygenase that is highly expressed in the retinal pigment epithelium. Genomics (2001) 1.28

Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. Am J Hum Genet (2001) 1.23

Isolation and characterization of a zebrafish homologue of the cone rod homeobox gene. Invest Ophthalmol Vis Sci (2001) 1.21

Basic fibroblast growth factor is neither necessary nor sufficient for the development of retinal neovascularization. Am J Pathol (1998) 1.20

A pineal regulatory element (PIRE) mediates transactivation by the pineal/retina-specific transcription factor CRX. Proc Natl Acad Sci U S A (1998) 1.19

A new locus for autosomal dominant stargardt-like disease maps to chromosome 4. Am J Hum Genet (1999) 1.15

Angiopoietin 1 inhibits ocular neovascularization and breakdown of the blood-retinal barrier. Gene Ther (2004) 1.15

Localization of TIMP-3 mRNA expression to the retinal pigment epithelium. Invest Ophthalmol Vis Sci (1996) 1.13

Nonviral ocular gene transfer. Gene Ther (2005) 1.13

Fibroblast growth factor-2 decreases hyperoxia-induced photoreceptor cell death in mice. Am J Pathol (2001) 1.11

Bone morphogenetic proteins-2 and -4: negative growth regulators in adult retinal pigmented epithelium. Invest Ophthalmol Vis Sci (2000) 1.09

Expression and permeation properties of the K(+) channel Kir7.1 in the retinal pigment epithelium. J Physiol (2001) 1.09

Photoreceptor-specific expression of platelet-derived growth factor-B results in traction retinal detachment. Am J Pathol (2000) 1.07

Monoclonal antibodies reveal the structural basis of antibody diversity. Science (1983) 1.06

Somatic diversification of S107 from an antiphosphocholine to an anti-DNA autoantibody is due to a single base change in its heavy chain variable region. Proc Natl Acad Sci U S A (1987) 1.05

Retinal degeneration in transgenic mice with photoreceptor-specific expression of a dominant-negative fibroblast growth factor receptor. J Neurosci (1996) 1.05

Neurotrophic signaling in normal and degenerating rodent retinas. Exp Eye Res (2001) 1.04

Tetracycline-inducible system for photoreceptor-specific gene expression. Invest Ophthalmol Vis Sci (2000) 1.03

Cloning and characterization of a secreted frizzled-related protein that is expressed by the retinal pigment epithelium. Hum Mol Genet (1999) 1.02

RER, an evolutionarily conserved sequence upstream of the rhodopsin gene, has enhancer activity. J Biol Chem (1996) 1.01

Long-term photoreceptor transplants in dystrophic and normal mouse retina. Invest Ophthalmol Vis Sci (1994) 0.99

Somatically generated mouse myeloma variants synthesizing IgA half-molecules. J Exp Med (1981) 0.97

Murine and bovine blue cone pigment genes: cloning and characterization of two new members of the S family of visual pigments. Genomics (1994) 0.97

TIMP-1 promotes VEGF-induced neovascularization in the retina. Histol Histopathol (2001) 0.96

Mammalian homolog of Drosophila retinal degeneration B rescues the mutant fly phenotype. J Neurosci (1997) 0.95

Mammalian orthologs of C. elegans unc-119 highly expressed in photoreceptors. Invest Ophthalmol Vis Sci (1998) 0.95

Reconstruction of degenerate rd mouse retina by transplantation of transgenic photoreceptors. Invest Ophthalmol Vis Sci (1992) 0.94

Retinal expression of a neo-self antigen, beta-galactosidase, is not tolerogenic and creates a target for autoimmune uveoretinitis. J Immunol (1999) 0.93

Functional domains of the cone-rod homeobox (CRX) transcription factor. J Biol Chem (2000) 0.93

Ret 4, a positive acting rhodopsin regulatory element identified using a bovine retina in vitro transcription system. J Biol Chem (1996) 0.91

Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene. Invest Ophthalmol Vis Sci (2001) 0.90

Sustained expression after nonviral ocular gene transfer using mammalian promoters. Gene Ther (2006) 0.90

The architectural transcription factor high mobility group I(Y) participates in photoreceptor-specific gene expression. J Neurosci (2000) 0.89

Apoptosis in ocular disease: a molecular overview. Ophthalmic Genet (1996) 0.88

Genetic determinants of autoimmune disease and coronary vasculitis in the MRL-lpr/lpr mouse model of systemic lupus erythematosus. J Immunol (1998) 0.88

Infections in postmenopausal women with osteoporosis treated with denosumab or placebo: coincidence or causal association? Osteoporos Int (2011) 0.87

Cell injury unmasks a latent proangiogenic phenotype in mice with increased expression of FGF2 in the retina. J Cell Physiol (2000) 0.86

Transplanted photoreceptors identified in dystrophic mouse retina by a transgenic reporter gene. Invest Ophthalmol Vis Sci (1991) 0.86

Platelet-derived growth factor-A-induced retinal gliosis protects against ischemic retinopathy. Am J Pathol (2000) 0.85

Cross-reactivity and pathogenicity of anti-DNA autoantibodies in systemic lupus erythematosus. Lupus (2002) 0.84

Sequence and expression analysis of bovine pigment epithelium-derived factor. Biochim Biophys Acta (1998) 0.83

An autoantibody is modified for use as a delivery system to target the cell nucleus: therapeutic implications. J Autoimmun (1998) 0.83

Instability of immunoglobulin genes in S107 cell line. Somat Cell Mol Genet (1991) 0.82

Transcriptional regulation of cellular retinaldehyde-binding protein in the retinal pigment epithelium. A role for the photoreceptor consensus element. J Biol Chem (1998) 0.81

Reporter gene expression in cones in transgenic mice carrying bovine rhodopsin promoter/lacZ transgenes. Vis Neurosci (1995) 0.81

Novel protein transfection of primary rat cortical neurons using an antibody that penetrates living cells. J Immunol (2000) 0.80

Cloning and characterization of retinal transcription factors, using target site-based methodology. Methods Enzymol (2000) 0.78

Functional dissection of the promoter of the interphotoreceptor retinoid-binding protein gene: the cone-rod-homeobox element is essential for photoreceptor-specific expression in vivo. J Biochem (1999) 0.77

Expression of carbonic anhydrase isozyme III in the ciliary processes and lens. Invest Ophthalmol Vis Sci (1997) 0.77

Beneficial effects of oral immunoglobulin in rheumatoid arthritis. J Clin Rheumatol (1995) 0.75

Antigen binding variants of the S107 mouse myeloma cell line. Prog Clin Biol Res (1980) 0.75

Ocular gene therapy. From fantasy to foreseeable reality. Arch Ophthalmol (1993) 0.75