scholarly article | Q13442814 |
P6179 | Dimensions Publication ID | 1030889525 |
P356 | DOI | 10.1038/NG0297-175 |
P3181 | OpenCitations bibliographic resource ID | 4126399 |
P698 | PubMed publication ID | 9020843 |
P2093 | author name string | E. L. Berson | |
K. C. Sippel | |||
S. Yamamoto | |||
T. P. Dryja | |||
P2860 | cites work | Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness | Q24328892 |
A homozygous 1–base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese | Q24337358 | ||
Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness | Q28247337 | ||
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms | Q28256462 | ||
Characterization and chromosomal localization of the gene for human rhodopsin kinase | Q28290439 | ||
The photocurrent, noise and spectral sensitivity of rods of the monkey Macaca fascicularis | Q28609990 | ||
Human photoreceptor topography | Q34034782 | ||
Variable number of tandem repeat (VNTR) markers for human gene mapping | Q34163031 | ||
Kinetics of the Photocurrent of Retinal Rods | Q34701962 | ||
Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation | Q34745200 | ||
Isoprenylation in regulation of signal transduction by G-protein-coupled receptor kinases | Q41603357 | ||
The quantity of rhodopsin in human eyes | Q44229598 | ||
The influence of arrestin (48K protein) and rhodopsin kinase on visual transduction | Q67485617 | ||
Rhodopsin phosphorylation and dephosphorylation in vivo | Q72315710 | ||
Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness | Q72896189 | ||
OGUCHI'S DISEASE | Q78316581 | ||
Dark-adaptation and the regeneration of rhodopsin | Q79006573 | ||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | night blindness | Q7758678 |
P304 | page(s) | 175–178 | |
P577 | publication date | 1997-02-01 | |
P1433 | published in | Nature Genetics | Q976454 |
P1476 | title | Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness | |
P478 | volume | 15 |
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Q36089415 | A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease. |
Q33401598 | A nonsense mutation in S-antigen (p.Glu306*) causes Oguchi disease |
Q47945525 | A novel form of rhodopsin kinase from chicken retina and pineal gland |
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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 |
Q28000117 | ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting |
Q28587241 | Abnormal photoresponses and light-induced apoptosis in rods lacking rhodopsin kinase |
Q41587222 | Activation and inactivation steps in the visual transduction pathway |
Q24622165 | Alternative splice variants of the USH3A gene Clarin 1 (CLRN1) |
Q45889604 | Animal models of human retinal dystrophies |
Q61444237 | Arrestin-1 engineering facilitates complex stabilization with native rhodopsin |
Q34486390 | Arrestin-1 expression level in rods: balancing functional performance and photoreceptor health |
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 |
Q28084726 | Biology and therapy of inherited retinal degenerative disease: insights from mouse models |
Q40975102 | Carboxyl terminal of rhodopsin kinase is required for the phosphorylation of photo-activated rhodopsin. |
Q30368025 | Chemistry and biology of the initial steps in vision: the Friedenwald lecture. |
Q47073148 | Cone arrestin confers cone vision of high temporal resolution in zebrafish larvae |
Q42621729 | Conserved interactions of a compact highly active enhancer/promoter upstream of the rhodopsin kinase (GRK1) gene |
Q42443514 | Constitutive precoupling to G(i) and increased agonist potency in the alpha(2B)-adrenoceptor |
Q77421385 | Control of rhodopsin activity in vision |
Q46689397 | Deactivation of phosphorylated and nonphosphorylated rhodopsin by arrestin splice variants. |
Q35817048 | Desensitization of G protein-coupled receptors and neuronal functions |
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 |
Q42159390 | Enhanced arrestin facilitates recovery and protects rods lacking rhodopsin phosphorylation |
Q44130152 | Evidence for two apoptotic pathways in light-induced retinal degeneration |
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Q46178667 | G protein-coupled receptor kinase function is essential for chemosensation in C. elegans. |
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Q33606979 | G-protein coupled receptor kinases as modulators of G-protein signalling |
Q24298167 | G-protein-coupled receptor kinase 5 phosphorylates p53 and inhibits DNA damage-induced apoptosis |
Q47754228 | G-protein-coupled receptors: turn-ons and turn-offs |
Q41622733 | GTP-binding-protein-coupled receptor kinases--two mechanistic models |
Q36637441 | Gene-based approach to human gene-phenotype correlations |
Q41737723 | Genetic blindness: current concepts in the pathogenesis of human outer retinal dystrophies |
Q35971565 | Greasing the protein biosynthesis machinery of photoreceptor neurons: Role for postprenylation processing of proteins |
Q58125201 | Grk1b and Grk7a Both Contribute to the Recovery of the Isolated Cone Photoresponse in Larval Zebrafish |
Q37649115 | Hsp90 inhibition protects against inherited retinal degeneration |
Q41652312 | Identification of genes causing photoreceptor degenerations leading to blindness |
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 |
Q50584293 | Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. |
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 |
Q56334860 | Loss of the Effector Function in a Transducin-α Mutant Associated with Nougaret Night Blindness |
Q44664910 | Low expression of rhodopsin kinase in pineal gland in Royal College of Surgeons rat. |
Q34384819 | Mechanisms of cell death in the inherited retinal degenerations |
Q73514867 | Mice lacking G-protein receptor kinase 1 have profoundly slowed recovery of cone-driven retinal responses |
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 |
Q103737028 | New variants and in silico analyses in GRK1 associated Oguchi disease |
Q24555742 | Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6 |
Q24301599 | Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking |
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 |
Q36759289 | Phosphorylation of photolyzed rhodopsin is calcium-insensitive in retina permeabilized by alpha-toxin. |
Q39176551 | Photoreceptor Cilia and Retinal Ciliopathies |
Q73120101 | Physiological roles of G-protein-coupled receptor kinases revealed by gene-targeting technology |
Q44579156 | Prolonged survival of the phosphorylated form of rhodopsin during dark adaptation of Royal College Surgeons rat. |
Q37313093 | RPGR, a prenylated retinal ciliopathy protein, is targeted to cilia in a prenylation- and PDE6D-dependent manner. |
Q26770321 | Retinal dystrophies, genomic applications in diagnosis and prospects for therapy |
Q33534644 | Retinitis pigmentosa: defined from a molecular point of view |
Q34343081 | Rhodopsin and its kinase |
Q47833257 | Rhodopsin phosphorylation and its role in photoreceptor function |
Q35027607 | Rod outer segment retinol formation is independent of Abca4, arrestin, rhodopsin kinase, and rhodopsin palmitylation |
Q37689215 | Role of cyclic AMP in the eye with glaucoma. |
Q35266544 | Roles of glucose in photoreceptor survival |
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 |
Q34102673 | Species-specific differences in expression of G-protein-coupled receptor kinase (GRK) 7 and GRK1 in mammalian cone photoreceptor cells: implications for cone cell phototransduction. |
Q35921707 | Structural domains required for Caenorhabditis elegans G protein-coupled receptor kinase 2 (GRK-2) function in vivo |
Q24657590 | Structures of rhodopsin kinase in different ligand states reveal key elements involved in G protein-coupled receptor kinase activation |
Q36173913 | Substrate-induced changes in the dynamics of rhodopsin kinase (G protein-coupled receptor kinase 1). |
Q74549886 | Summary of ocular genetic disorders and inherited systemic conditions with eye findings |
Q35451106 | Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. |
Q50285621 | The Role of G Protein-coupled Receptor Kinases in Cancer |
Q55067902 | The cyclophilin-like domain mediates the association of Ran-binding protein 2 with subunits of the 19 S regulatory complex of the proteasome. |
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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 |
Q36628887 | Thymic expression of peripheral tissue antigens in humans: a remarkable variability among individuals |
Q46162370 | Transcriptional analysis of rat photoreceptor cells reveals daily regulation of genes important for visual signaling and light damage susceptibility |
Q43574293 | Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation |
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