scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1038347138 |
P356 | DOI | 10.1038/NG0795-360 |
P953 | full work available at URL | http://www.nature.com/articles/ng0795-360 |
http://www.nature.com/articles/ng0795-360.pdf | ||
P3181 | OpenCitations bibliographic resource ID | 435016 |
P698 | PubMed publication ID | 7670478 |
P5875 | ResearchGate publication ID | 15527636 |
P2093 | author name string | S. Fuchs | |
M. Tamai | |||
M. Nakazawa | |||
A. Gal | |||
Y. Oguchi | |||
M. Maw | |||
P2860 | cites work | Light-induced binding of 48-kDa protein to photoreceptor membranes is highly enhanced by phosphorylation of rhodopsin | Q70501789 |
Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene) | Q70694544 | ||
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness | Q72896189 | ||
OGUCHI'S DISEASE | Q78316581 | ||
Phosphodiesterase activation by photoexcited rhodopsin is quenched when rhodopsin is phosphorylated and binds the intrinsic 48-kDa protein of rod outer segments | Q24632640 | ||
Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa | Q28118750 | ||
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness | Q28247337 | ||
The sequence of human retinal S-antigen reveals similarities with alpha-transducin | Q28291784 | ||
Oguchi disease: suggestion of linkage to markers on chromosome 2q | Q28293710 | ||
Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction | Q29618515 | ||
Arrestin function in inactivation of G protein-coupled receptor rhodopsin in vivo | Q47072234 | ||
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172 | Q61386399 | ||
A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa | Q67482922 | ||
The influence of arrestin (48K protein) and rhodopsin kinase on visual transduction | Q67485617 | ||
Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon | Q67938471 | ||
X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon | Q68804982 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | sequence deletion | Q70689645 |
homozygosity | Q114049690 | ||
rhodopsin mediated signaling pathway | Q14859552 | ||
S-antigen visual arrestin | Q21105252 | ||
P304 | page(s) | 360-2 | |
P577 | publication date | 1995-07-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese | |
A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese | |||
P478 | volume | 10 |
Q78040719 | 1147 del A mutation in the arrestin gene in Japanese patients with Oguchi disease |
Q35818100 | A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene |
Q99583525 | A Homozygote Mutation in S-Antigen Visual Arrestin SAG Gene in an Iranian Patient with Oguchi Type One: A Case Report |
Q33756026 | A Novel Dominant Mutation in SAG, the Arrestin-1 Gene, Is a Common Cause of Retinitis Pigmentosa in Hispanic Families in the Southwestern United States |
Q42167208 | A comparison of three techniques to estimate the human dark-adapted cone electroretinogram |
Q43903067 | A distinctive form of congenital stationary night blindness with cone ON-pathway dysfunction |
Q37146160 | A non-stop S-antigen gene mutation is associated with late onset hereditary retinal degeneration in dogs |
Q33401598 | A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease |
Q37343523 | A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family. |
Q44128836 | A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness |
Q33645591 | A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype |
Q37367597 | A point mutation (W70A) in the rod PDE-gamma gene desensitizing and delaying murine rod photoreceptors |
Q35956948 | A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration? |
Q28587241 | Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase |
Q41587222 | Activation and inactivation steps in the visual transduction pathway |
Q34990005 | Alterations in energy metabolism, neuroprotection and visual signal transduction in the retina of Parkinsonian, MPTP-treated monkeys |
Q26785358 | Analyzing the roles of multi-functional proteins in cells: The case of arrestins and GRKs |
Q45889604 | Animal models of human retinal dystrophies |
Q33212027 | Application of functional genomic technologies in a mouse model of retinal degeneration |
Q61444237 | Arrestin-1 engineering facilitates complex stabilization with native rhodopsin |
Q34486390 | Arrestin-1 expression level in rods: balancing functional performance and photoreceptor health |
Q34795529 | Arrestin: roles in the life and death of retinal neurons |
Q21184142 | Arrestins: ubiquitous regulators of cellular signaling pathways |
Q36400102 | Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease |
Q35972555 | Biochemical evidence for pathogenicity of rhodopsin kinase mutations correlated with the oguchi form of congenital stationary night blindness |
Q36847786 | Canine rod transducin alpha-1: cloning of the cDNA and evaluation of the gene as a candidate for progressive retinal atrophy |
Q87795595 | Changes in the harmonic components of the flicker electroretinogram during light adaptation |
Q24319495 | Cloning, chromosomal localization and functional expression of the gene encoding the alpha-subunit of the cGMP-gated channel in human cone photoreceptors |
Q49153594 | Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients |
Q47073148 | Cone arrestin confers cone vision of high temporal resolution in zebrafish larvae |
Q47072324 | Constitutive activity of the light-sensitive channels TRP and TRPL in the Drosophila diacylglycerol kinase mutant, rdgA. |
Q77421385 | Control of rhodopsin activity in vision |
Q37735949 | Custom-designed proteins as novel therapeutic tools? The case of arrestins |
Q46689397 | Deactivation of phosphorylated and nonphosphorylated rhodopsin by arrestin splice variants. |
Q34135553 | Deciphering the structure and function of Als2cr4 in the mouse retina |
Q28116973 | Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness |
Q44697094 | ERG rod a-wave in Oguchi disease |
Q33845194 | Effect of g protein-coupled receptor kinase 1 (Grk1) overexpression on rod photoreceptor cell viability |
Q35195026 | Electrophysiological analysis of visual function in mutant mice. |
Q36579557 | Engineering visual arrestin-1 with special functional characteristics |
Q55428860 | Enhanced Mutant Compensates for Defects in Rhodopsin Phosphorylation in the Presence of Endogenous Arrestin-1. |
Q42159390 | Enhanced arrestin facilitates recovery and protects rods lacking rhodopsin phosphorylation |
Q37742552 | Evolutionary analysis of vision genes identifies potential drivers of visual differences between giraffe and okapi |
Q37044506 | Functional map of arrestin binding to phosphorylated opsin, with and without agonist |
Q52527437 | G protein-coupled receptor kinase 3 (GRK3) gene disruption leads to loss of odorant receptor desensitization. |
Q36637441 | Gene-based approach to human gene-phenotype correlations |
Q41244075 | Genes responsible for human hereditary deafness: symphony of a thousand |
Q41737723 | Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies |
Q43104752 | Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy |
Q37649115 | Hsp90 inhibition protects against inherited retinal degeneration |
Q34395064 | Hybrid mice reveal parent-of-origin and Cis- and trans-regulatory effects in the retina |
Q24317208 | Identification and characterization of a conserved family of protein serine/threonine phosphatases homologous to Drosophila retinal degeneration C |
Q41652312 | Identification of genes causing photoreceptor degenerations leading to blindness |
Q47962142 | Immediate upstream sequence of arrestin directs rod-specific expression in Xenopus |
Q28276779 | Immunolocalization of X-arrestin in human cone photoreceptors |
Q34355807 | Induction of the unfolded protein response by constitutive G-protein signaling in rod photoreceptor cells |
Q73040760 | Insights from a lost visual pigment |
Q27677322 | Insights into congenital stationary night blindness based on the structure of G90D rhodopsin |
Q28296270 | Isolation and characterization of the human X-arrestin gene |
Q42652633 | Isolation of canine retinal arrestin cDNA and exclusion of three candidate genes for Swedish Briard retinal dystrophy. |
Q33892087 | Lessons from photoreceptors: turning off g-protein signaling in living cells |
Q36481342 | Light and inherited retinal degeneration |
Q40850612 | Light, sight and fight for insight |
Q39515862 | MEF2D drives photoreceptor development through a genome-wide competition for tissue-specific enhancers |
Q34384819 | Mechanisms of cell death in the inherited retinal degenerations |
Q30938377 | Mizuo phenomenon observed by scanning laser ophthalmoscopy in a patient with Oguchi disease |
Q47218417 | Molecular Defects of the Disease-Causing Human Arrestin-1 C147F Mutant |
Q34665702 | Molecular aspects of retinal degenerative diseases |
Q28115867 | Molecular forms of human rhodopsin kinase (GRK1) |
Q48578775 | Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture |
Q47609854 | Molecular genetics of human retinal dystrophies |
Q37656373 | Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort |
Q43702730 | Multiple phosphorylation of rhodopsin and the in vivo chemistry underlying rod photoreceptor dark adaptation |
Q41788170 | Mutation of a TADR protein leads to rhodopsin and Gq-dependent retinal degeneration in Drosophila |
Q24301994 | Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness |
Q24301599 | Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking |
Q35298956 | Normal S cone electroretinogram b-wave in Oguchi's disease |
Q35678097 | Null mutation in the rhodopsin kinase gene slows recovery kinetics of rod and cone phototransduction in man |
Q54348665 | Oguchi disease masked by retinitis pigmentosa. |
Q74188731 | Oguchi disease with sectoral retinitis pigmentosa harboring adenine deletion at position 1147 in the arrestin gene |
Q34312941 | Pathways to photoreceptor cell death in inherited retinal degenerations |
Q37981274 | Pharmacogenomics of the heptahelical receptor regulators G-protein-coupled receptor kinases and arrestins: the known and the unknown |
Q39176551 | Photoreceptor Cilia and Retinal Ciliopathies |
Q78040690 | Photoreceptor cell damage by light in young Royal College of Surgeons rats |
Q37977127 | Physiological mechanisms of signal termination in biological systems. |
Q34442537 | Prolonged photoresponses in transgenic mouse rods lacking arrestin |
Q33932703 | Proteomic analysis of human vitreous humor. |
Q33777264 | Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa |
Q33942183 | Recent advances in the molecular basis of inherited photoreceptor degeneration |
Q41392234 | Regulatory mechanisms that modulate signalling by G-protein-coupled receptors |
Q26770321 | Retinal dystrophies, genomic applications in diagnosis and prospects for therapy |
Q33534644 | Retinitis pigmentosa: defined from a molecular point of view |
Q34708925 | Robust self-association is a common feature of mammalian visual arrestin-1. |
Q35027607 | Rod outer segment retinol formation is independent of Abca4, arrestin, rhodopsin kinase, and rhodopsin palmitylation |
Q39259487 | Rod-cone interactions: developmental and clinical significance |
Q35266544 | Roles of glucose in photoreceptor survival |
Q50298570 | SAG binds p-MII to form p-MII:SAG |
Q24798554 | Screening of the arrestin gene in dogs afflicted with generalized progressive retinal atrophy |
Q84036462 | Shortening of the rod outer segment in Oguchi disease |
Q30432989 | Site-specific phosphorylation of CXCR4 is dynamically regulated by multiple kinases and results in differential modulation of CXCR4 signaling |
Q74549886 | Summary of ocular genetic disorders and inherited systemic conditions with eye findings |
Q38732888 | Taking Stock of Retinal Gene Therapy: Looking Back and Moving Forward |
Q27618047 | The 2.8 A crystal structure of visual arrestin: a model for arrestin's regulation |
Q55067902 | The cyclophilin-like domain mediates the association of Ran-binding protein 2 with subunits of the 19 S regulatory complex of the proteasome. |
Q35387361 | The functional cycle of visual arrestins in photoreceptor cells |
Q36328538 | The retinal phenotype of Grk1-/- is compromised by a Crb1 rd8 mutation |
Q47982269 | The selectivity of visual arrestin for light-activated phosphorhodopsin is controlled by multiple nonredundant mechanisms |
Q37483758 | Transmission-ratio distortion in the Framingham Heart Study |
Q74127967 | Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination |
Q28216433 | Update on the molecular genetics of retinitis pigmentosa |
Q34060227 | Visual Arrestin 1 acts as a modulator for N-ethylmaleimide-sensitive factor in the photoreceptor synapse |
Q33828777 | Visual Arrestin 1 contributes to cone photoreceptor survival and light adaptation |
Q93000737 | Visual arrestin modulates gene expression in the retinal pigment epithelium: Implications for homeostasis in the retina |
Q34277608 | Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa |
Q79744235 | [Oguchi disease or stationary congenital night blindness: a case report] |
Search more.