Published in Invest Ophthalmol Vis Sci on March 01, 2001
The proteome of the mouse photoreceptor sensory cilium complex. Mol Cell Proteomics (2007) 3.53
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res (2012) 1.66
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc Natl Acad Sci U S A (2002) 1.65
X-linked retinoschisis: an update. J Med Genet (2006) 1.64
The Finnish Disease Heritage III: the individual diseases. Hum Genet (2003) 1.36
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. Br J Ophthalmol (2006) 1.28
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. Doc Ophthalmol (2007) 1.27
Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography. Arch Ophthalmol (2008) 1.21
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Mol Vis (2008) 1.18
The genetics of inherited macular dystrophies. J Med Genet (2003) 1.14
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. Invest Ophthalmol Vis Sci (2011) 1.05
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. Br J Ophthalmol (2003) 1.04
Circadian regulation of ion channels and their functions. J Neurochem (2009) 1.02
Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina. J Biol Chem (2008) 1.00
A comparison of ERG abnormalities in XLRS and XLCSNB. Doc Ophthalmol (2004) 0.97
Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer. J Clin Invest (2015) 0.95
Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families. Jpn J Ophthalmol (2008) 0.95
X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects. Invest Ophthalmol Vis Sci (2011) 0.94
Expression profiling after retinal detachment and reattachment: a possible role for aquaporin-0. Invest Ophthalmol Vis Sci (2008) 0.92
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. Mol Vis (2010) 0.92
Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisis. Genetics (2008) 0.88
Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose. Biochemistry (2008) 0.85
Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study. Invest Ophthalmol Vis Sci (2009) 0.85
Preclinical safety evaluation of a recombinant AAV8 vector for X-linked retinoschisis after intravitreal administration in rabbits. Hum Gene Ther Clin Dev (2014) 0.84
Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. Doc Ophthalmol (2011) 0.83
Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene. Mol Vis (2008) 0.82
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. Nucleic Acids Res (2008) 0.82
Circadian regulation of retinoschisin in the chick retina. Invest Ophthalmol Vis Sci (2008) 0.81
Novel RS1 mutations associated with X-linked juvenile retinoschisis. Int J Mol Med (2012) 0.81
The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisis. Invest Ophthalmol Vis Sci (2009) 0.81
Retinal nerve fibre layer thickness analysis in X-linked retinoschisis using Fourier-domain OCT. Eye (Lond) (2009) 0.81
Tyrosinase is the modifier of retinoschisis in mice. Genetics (2010) 0.80
Abnormalities of the scotopic threshold response correlated with gene mutation in X-linked retinoschisis and congenital stationary night blindness. Doc Ophthalmol (2003) 0.79
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis. Mol Vis (2012) 0.79
Retinoschisin (RS1) interacts with negatively charged lipid bilayers in the presence of Ca2+: an atomic force microscopy study. Biochemistry (2010) 0.79
An ex vivo gene therapy approach in X-linked retinoschisis. Mol Vis (2016) 0.78
Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography. Invest Ophthalmol Vis Sci (2016) 0.78
Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function. Hum Gene Ther (2016) 0.77
Biology of retinoschisin. Adv Exp Med Biol (2012) 0.77
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. Eye (Lond) (2014) 0.75
Proteomic profiling of human intraschisis cavity fluid. Clin Proteomics (2017) 0.75
The X-linked juvenile retinoschisis protein retinoschisin is a novel regulator of mitogen-activated protein kinase signalling and apoptosis in the retina. J Cell Mol Med (2016) 0.75
X-Linked retinoschisis associated to a novel intragenic microdeletion: case report. BMC Med Genet (2016) 0.75
Retinoschisin is linked to retinal Na/K-ATPase signaling and localization. Mol Biol Cell (2017) 0.75
Nasal involvement in X-linked retinoschisis. Indian J Ophthalmol (2017) 0.75
Long-term rearrangement of retinal structures in a novel mutation of X-linked retinoschisis. Biomed Rep (2017) 0.75
Cellular tropism of the human retrovirus HTLV-III/LAV. I. Role of T cell activation and expression of the T4 antigen. J Immunol (1985) 7.35
Expression of a synthetic bovine rhodopsin gene in monkey kidney cells. Proc Natl Acad Sci U S A (1987) 5.11
Primary structure effects on peptide group hydrogen exchange. Biochemistry (1972) 4.08
Immunoassay for the detection and quantitation of infectious human retrovirus, lymphadenopathy-associated virus (LAV). J Immunol Methods (1985) 3.91
Modulation of the cGMP-gated channel of rod photoreceptor cells by calmodulin. Nature (1993) 3.34
Monoclonal antibodies to rhodopsin: characterization, cross-reactivity, and application as structural probes. Biochemistry (1983) 3.30
Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet (1997) 3.29
Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa. Neuron (1992) 3.25
Peripherin. A rim-specific membrane protein of rod outer segment discs. Invest Ophthalmol Vis Sci (1987) 3.14
Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem (1999) 2.70
Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet (1998) 2.68
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet (1998) 2.48
The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily. J Biol Chem (1997) 2.33
Localization of binding sites for carboxyl terminal specific anti-rhodopsin monoclonal antibodies using synthetic peptides. Biochemistry (1984) 2.22
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. Am J Hum Genet (2000) 2.18
Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J Cell Biol (1992) 2.17
Immunospecific ferromagnetic iron-dextran reagents for the labeling and magnetic separation of cells. J Immunol Methods (1982) 2.16
The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes. J Biol Chem (2001) 2.15
Laryngeal transplantation and 40-month follow-up. N Engl J Med (2001) 2.12
Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc Natl Acad Sci U S A (1991) 2.11
Diagnosis of posttransplantation lymphoproliferative disorder by endomyocardial biopsy in a cardiac allograft recipient. J Heart Lung Transplant (1994) 2.04
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. Eur J Hum Genet (2000) 2.02
Silk properties determined by gland-specific expression of a spider fibroin gene family. Science (1996) 2.01
cDNA cloning, genomic structure, and chromosomal localization of three members of the human fatty acid desaturase family. Genomics (2000) 1.99
Role of the intradiscal domain in rhodopsin assembly and function. Proc Natl Acad Sci U S A (1990) 1.97
The retinal pigment epithelium in health and disease. Curr Mol Med (2010) 1.87
Antigen-antibody interaction. Synthetic peptides define linear antigenic determinants recognized by monoclonal antibodies directed to the cytoplasmic carboxyl terminus of rhodopsin. J Biol Chem (1988) 1.82
Differential immunogold-dextran labeling of bovine and frog rod and cone cells using monoclonal antibodies against bovine rhodopsin. Exp Eye Res (1986) 1.81
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis. Nat Genet (2000) 1.80
Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors. J Biol Chem (2001) 1.79
Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochemistry (1990) 1.76
Cloning of the cDNA for a novel photoreceptor membrane protein (rom-1) identifies a disk rim protein family implicated in human retinopathies. Neuron (1992) 1.76
Distribution of the Na(+)-Ca2+ exchange protein in mammalian cardiac myocytes: an immunofluorescence and immunocolloidal gold-labeling study. J Cell Biol (1992) 1.73
Patterns of cytokine production in psoriatic synovium. J Rheumatol (1998) 1.72
ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet (2000) 1.71
New injection recommendations for patients with diabetes. Diabetes Metab (2010) 1.67
Characterization of ATM gene mutations in 66 ataxia telangiectasia families. Hum Mol Genet (1999) 1.66
Normal retina releases a diffusible factor stimulating cone survival in the retinal degeneration mouse. Proc Natl Acad Sci U S A (1998) 1.64
Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration. J Biol Chem (2000) 1.61
Rod and cone photoreceptor cells express distinct genes for cGMP-gated channels. Neuron (1993) 1.58
Glial cell line-derived neurotrophic factor induces histologic and functional protection of rod photoreceptors in the rd/rd mouse. Invest Ophthalmol Vis Sci (1999) 1.57
The cGMP-gated channel of bovine rod photoreceptors is localized exclusively in the plasma membrane. J Biol Chem (1989) 1.55
VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat (2000) 1.55
Heterologous expression of photoreceptor peripherin/rds and Rom-1 in COS-1 cells: assembly, interactions, and localization of multisubunit complexes. Biochemistry (1995) 1.53
New immunolatex spheres: visual markers of antigens on lymphocytes for scanning electron microscopy. J Cell Biol (1975) 1.49
Subunit composition of the peripherin/rds-rom-1 disk rim complex from rod photoreceptors: hydrodynamic evidence for a tetrameric quaternary structure. Biochemistry (1996) 1.48
Imiquimod for the treatment of genital warts: a quantitative systematic review. BMC Infect Dis (2001) 1.47
Application of magnetic microspheres in labelling and separation of cells. Nature (1977) 1.46
Cysteine residues of photoreceptor peripherin/rds: role in subunit assembly and autosomal dominant retinitis pigmentosa. Biochemistry (1998) 1.45
Subunit 2 (or beta) of retinal rod cGMP-gated cation channel is a component of the 240-kDa channel-associated protein and mediates Ca(2+)-calmodulin modulation. Proc Natl Acad Sci U S A (1994) 1.44
Defective subunit assembly underlies a digenic form of retinitis pigmentosa linked to mutations in peripherin/rds and rom-1. Proc Natl Acad Sci U S A (1996) 1.43
Survey of colposcopy service provided by genito-urinary medicine in England and Wales. Br J Obstet Gynaecol (1992) 1.41
Questions of collaboration. Nature (1995) 1.38
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene. Hum Mutat (1997) 1.35
BCL-2 expression in human colorectal adenomas and carcinomas. Oncogene (1994) 1.34
Renewal of photoreceptor outer segments and their phagocytosis by the retinal pigment epithelium. Int Rev Cytol (2000) 1.33
Evidence from normal and degenerating photoreceptors that two outer segment integral membrane proteins have separate transport pathways. J Comp Neurol (1997) 1.32
Diabetic mastopathy: a distinctive clinicopathologic entity. Hum Pathol (1992) 1.29
The effect of lipid environment and retinoids on the ATPase activity of ABCR, the photoreceptor ABC transporter responsible for Stargardt macular dystrophy. J Biol Chem (2000) 1.28
Photoreceptor transplants increase host cone survival in the retinal degeneration (rd) mouse. Ophthalmic Res (1997) 1.27
The cGMP-gated cation channel of bovine rod photoreceptor cells is associated with a 240-kDa protein exhibiting immunochemical cross-reactivity with spectrin. J Biol Chem (1990) 1.27
A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features. Hum Mol Genet (1995) 1.27
Links between race/ethnicity and cultural values as mediated by racial/ethnic identity and moderated by gender. J Pers Soc Psychol (1997) 1.26
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscul Disord (2006) 1.26
Selective transplantation of rods delays cone loss in a retinitis pigmentosa model. Arch Ophthalmol (2000) 1.26
Molecular cloning, membrane topology, and localization of bovine rom-1 in rod and cone photoreceptor cells. Invest Ophthalmol Vis Sci (1996) 1.24
Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer. Hum Genet (2000) 1.24
Cell death in age-related macular degeneration. Mol Vis (1999) 1.23
DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland. Neurology (1999) 1.22
Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites. J Biol Chem (2001) 1.21
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa. J Biol Chem (2001) 1.20
Advanced granulomatous lesions in Mycobacterium bovis-infected cattle are associated with increased expression of type I procollagen, gammadelta (WC1+) T cells and CD 68+ cells. J Comp Pathol (2005) 1.19
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Hum Mutat (2008) 1.18
Glucose metabolism in photoreceptor outer segments. Its role in phototransduction and in NADPH-requiring reactions. J Biol Chem (1994) 1.18
Primary structure and expression of the human beta-subunit and related proteins of the rod photoreceptor cGMP-gated channel. J Biol Chem (1996) 1.18
Evidence against the role of rhodopsin in rod outer segment binding to RPE cells. Invest Ophthalmol Vis Sci (1988) 1.17
Rapamycin: distribution, pharmacokinetics, and therapeutic range investigations. Ther Drug Monit (1995) 1.10
Selective excitotoxic degeneration of adult pig retinal ganglion cells in vitro. Invest Ophthalmol Vis Sci (2001) 1.10
The natural history of X-linked retinoschisis. Can J Ophthalmol (1998) 1.08
Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes. Genome Res (1996) 1.08
Glycolytic enzymes and a GLUT-1 glucose transporter in the outer segments of rod and cone photoreceptor cells. J Biol Chem (1991) 1.07
Organization of rhodopsin and a high molecular weight glycoprotein in rod photoreceptor disc membranes using monoclonal antibodies. J Biol Chem (1982) 1.06
Frequency of BRCA1 mutation 5382insC in German breast cancer patients. Gynecol Oncol (1999) 1.04
Chemical modification of yeast 3-phosphoglycerate kinase. J Biol Chem (1975) 1.03
Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. Hum Genet (1998) 1.03
Glyceraldehyde-3-phosphate dehydrogenase is a major protein associated with the plasma membrane of retinal photoreceptor outer segments. J Biol Chem (1990) 1.01
Identification of the sodium-calcium exchanger as the major ricin-binding glycoprotein of bovine rod outer segments and its localization to the plasma membrane. Biochemistry (1990) 1.01
Clinical and genetic evidence for autosomal dominant North Carolina macular dystrophy in a German family. Am J Ophthalmol (1997) 1.00
A sequence-ready high-resolution physical map of the best macular dystrophy gene region in 11q12-q13. Genomics (1997) 0.99
Cell commitment and differentiation in explants of embryonic rat neural retina. Comparison with the developmental potential of dissociated retina. Brain Res Dev Brain Res (1990) 0.98
What can we learn about age-related macular degeneration from other retinal diseases? Mol Vis (1999) 0.98
cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-->q13.1 which encodes a highly conserved, potential membrane-associated protein. Cytogenet Cell Genet (2000) 0.98
Orientation of membrane glycoproteins in sealed rod outer segment disks. Biochemistry (1979) 0.97
Survival of purified rat photoreceptors in vitro is stimulated directly by fibroblast growth factor-2. J Neurosci (1998) 0.97
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. Am J Hum Genet (1998) 0.97