Property Summary

NCBI Gene PubMed Count 198
PubMed Score 6671.17
PubTator Score 3878.86

Knowledge Summary

Patent (252,139)

Expression

  Differential Expression (2)

Disease log2 FC p
psoriasis -1.600 4.7e-04
osteosarcoma 1.648 3.6e-05

Gene RIF (120)

PMID Text
26962691 Our study shows that RHO mutations are a major cause of adRP in this cohort and are responsible for 28% of adRP families.
26467309 analysis of the crystal structure of the rhodopsin-arrestin complex
26427449 Studies indicate that misfolding of rhodopsin can result in disruptions in cellular protein homeostasis, or proteostasis.
26321861 A whole-exome sequencing approach led to identification of a deletion in RHO through detection of a new linked variant in COL6A6 in autosomal dominant retinitis pigmentosa.
26200343 crystal structure of a constitutively active form of human rhodopsin bound to a pre-activated form of the mouse visual arrestin, determined by serial femtosecond X-ray laser crystallography
26114863 These insights into the dynamics of the ground states and the early photocycle stages enhance our understanding of the channel function of Channel rhodopsin.
26105054 show that although the basic activation pathways of human and bovine rhodopsin are similar, structural deviations exist in the inactive conformation and during receptor activation, even between closely related rhodopsins
26045836 RHO polymorphisms (rs7984, rs2855557 and rs2410) and haplotypes may confer remarkable susceptibility to age-related macular degeneration
25673879 FIP3 (RAB11-FIP3) promotes the activity of Rab11a and the ASAP1 in the Arf4-dependent ciliary transport of the sensory receptor rhodopsin.
25637522 Similar vacuolization in photoreceptor outer segment discs of transgenic mice expressing human rhodopsin with a T17M mutation or non-glycosylated form of rhodopsin was found. Non-glycosylated rhodopsin is unstable and is regulated via ubiquitin pathway
25408095 This retrospective study provides a wide spectrum of mutations in the RHO gene in Spanish patients with autosomal dominant Retinitis Pigmentosa .
25305340 Data indicate that the number of nanodomains present in a single disc was dependent on the number of rhodopsin molecules incorporated into the membrane.
25274813 tHE results OF THIS STUDY identify a novel pathogenic mechanism in which the glycosylation-deficient rhodopsins are destabilized by light activation.
25268658 Electron paramagnetic resonance spectra of the spin-labeled samples indicate that the extracellular residues of RHO retain more rigidity in the denatured states than the cytoplasmic residues.
25265376 The study identified a RHO gene mutation (p.Thr58Met) not previously reported in RP in a patient with sector retinitis pigmentosa (RP).
25221422 reveal the spectrum and frequency of RHO mutations in Chinese patients with different forms of retinitis pigmentosa and demonstrate that RHO mutations account for a high proportion of autosomal dominant retinitis pigmentosa cases
25203160 RHO has an intrinsic water pathway, which in the receptors' resting state is interrupted by a hydrophobic layer of amino acid residues and upon agonist binding, opened to a continuous intrinsic water channel.
25171072 Data indicate that transfected human channelrhodopsin-2 (rhodopsin) increased the action potential in the rat spinal cord and activated the calcium channel in dorsal root ganglion neurons.
25096327 Rer1p regulates the ER retention of immature or misfolded rhodopsin and modulates its intracellular trafficking through the early secretory pathway.
25055872 ERdj5 is a member of the proteostasis network that regulates rod opsin biogenesis and supports a role for disulfide bond formation/reduction in rod opsin biogenesis and disease.
24918165 In this report we describe a New Zealand family, of European heritage, affected by a sectoral type RP phenotype in association with a novel rhodopsin mutation (proline-170-histidine) in a highly conserved site.
24717605 It regulates relaxation of vascular smooth muscle.
24664756 These studies indicate that activation of either IRE1, ATF6, or PERK prevents mutant rhodopsin from accumulating in the cells.
24664733 Many biochemical studies have demonstrated that P23H mutation induces rhodopsin (RHO) misfolding leading to endoplasmic reticulum stress.
24618321 development of rod photoreceptors in TgP23H swine embryos.
24520188 There is a correlation between the stability of rhodopsin mutations and disease severity and levels of membrane-bound rhodopsin.
24183693 In the dark, rhodopsin 11-cis retinal chromophore serves as an inverse agonist to lock the receptor in an inactive state. (Review)
24106275 Retinitis pigmentosa mutants provide insight into the role of the N-terminal cap in rhodopsin folding, structure, and function.
23940033 The purpose of this study was to test for mechanisms by which the autosomal dominant rhodopsin mutation Ter349Glu causes an early, rapid retinal degeneration.
23625926 The S186W mutant thermally destabilizes rhodopsin by disrupting a hydrogen bond network at the receptor's active site.
23579341 X-ray crstallographic analysis of rhodopsin reveals the congenital stationary night blindness-causing G90D mutation introduces a salt bridge with K296.
23557623 This study demonistrated that rhodopsin P23H mutation cause early degeneration of retin.
23402891 The c.233A>T mutation at RHO exon 1 caused sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.
23288993 Two mutations in the RHO gene have been found in two Chinese families with retinitis pigmentosa.
23049240 Less severe phenotypes occurred in patients with p.R135W in rhodopsin.
22956602 This study indicates that selectively activating ATF6 or PERK prevents mutant rhodopsin from accumulating in retinal cells.
22855534 Data suggest that BiP (HSPA5) is important for maintaining the solubility of rod opsin in the endoplasmic reticulum.
22791210 Pathogenic mutations in rhodopsin can lead to autosomal dominant retinitis pigmentosa.
22736939 RHO was found to be the most frequently mutated gene in Spanish families with autosomal dominant retinitis pigmentosa.
22419850 A novel deletion in exon 3 of the RHO gene, c.614-622del results in a classical form of retinitis pigmentosa in a multi-generation French family.
22251557 Defective trafficking of rhodopsin and its role in retinal degenerations.
22219383 these findings reveal the diversity of proteolytic mechanisms used by IRE1 to eliminate misfolded rhodopsin.
22217031 Results present the possibility that cystoid macular edema in retinitis pigmentosa patients may be associated with a specific genotype such as the p.P347L in rhodopsin.
22183380 The precise mechanism by which rhodopsin misfolding leads to photoreceptor cell death still remains to be clarified in this cell model.
22183378 In retinitis pigmentosa caused by P23H rhodopsin mutation, the proteins are misfolded in the endoplasmic reticulum/Golgi apparatus and associated with CNX.
22145929 A possible cause of the heterogeneity of rhodopsin glycosylation in transgenic mice is that serotonin receptor type 4 (5-HT4R) is being coexpressed with rhodopsin, thereby stressing the post-translational machinery in rod cells.
22126625 Results describe the geometries, electronic effects, and vertical excitation energies in the dark state of mutated human and cattle rhodopsins carrying the abnormal substitutions M207R or S186W at the retinal binding pocket.
21978933 CD97 functioned to mediate invasion in prostate cancer cells, by associating with lysophosphatidic acid receptor 1 (LPAR1), leading to enhanced LPA-dependent RHO and extracellular signal-regulated kinase activation.
21940625 Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin.
21921035 kinetic analysis of thermal decay of rhodopsin reveals unusual energetics of thermal isomerization and hydrolysis of Schiff base
21677794 A spectrum of rhodopsin mutations has been identified in Korean patients with retinitis pigmentosa.
21659526 results illustrate the importance of the intact hydrogen-bonding network for dim-light detection, revealing the functional roles of water molecules in rhodopsin
21402790 Data implicate miR-708 in the homeostatic regulation of ER function in mammalian rod photoreceptors, whereby miR-708 may help prevent an excessive rhodopsin load from entering the ER.
21352497 propose that G51V and G89D shift the equilibrium from metarhodopsin I towards an intermediate, recently named as metarhodopsin Ib, proposed to interact with transducin without activating it
21174529 We detected a novel, recessive nonsense mutation (p.W161X) in the RHO gene of two families through mutation screening of RHO in 38 Indonesian RP patients. Haplotype analysis suggested that p.W161X was the founder mutation.
21094163 rhodopsin mutations are associated with night blindness.
20832389 these results demonstrate an overview of the spectrum and frequency of retinitis pigmentosa (RP) RHO mutations in a Chinese population and emphasize that RHO mutations in isolated RP are not uncommon.
20801516 Observational study of genetic testing. (HuGE Navigator)
20697005 We report the phenotype-genotype correlation of an unusual autosomal dominant, late-onset restricted chorioretinal degeneration cosegregating with a novel RHO mutation, p.Met207Lys.
20628051 Findings emphasize the fundamental importance of electrostatic interactions for appropriate membrane trafficking of opsin and advance our understanding of the pathophysiology of autosomal recessive retinitis pigmentosa due to the E150K mutation.
20603337 Transgenic rods in GNAT2C mice have decreased sensitivity and a rate of activation half that of wild-type mouse rods perhaps because some step between Rh* and activation of phosphodiesterase 6 effector PDE6 occurs with less gain.
20591486 Observational study of genetic testing. (HuGE Navigator)
20558345 simultaneous expression of HGF/c-met and three trasducers of tyrosine kinase receptors STAT3, PI3K, RHO in both nodular and extranodular tissues were studied by immunohistochemistry in 50 benign thyroid nodules, 25 associated with Hashimoto's thyroiditis
20555336 analysis of a Chinese Bai family with adRP, and a known missense RHO mutation (p.Pro347leu) is responsible for it
20374723 This chapter focuses on the mechanisms by which rhodopsin mutations cause retinal degeneration, as well as potential therapeutic strategies to treat the disease.
20238025 The known biochemical and electrophysiological data for the four known rhodopsin mutations found in patients with congenital stationary night blindness.
20164459 This study revealed that the prevalence of RHO mutations in French adRP patients is in accordance with that in other studies from Europe.
20164459 Observational study of gene-disease association. (HuGE Navigator)
20097236 Data suggest that misfolded rhodopsin(P23H) is a substrate of the ERAD effector valosin-containing protein, an ATP-dependent chaperone that extracts misfolded proteins from the ER and escorts them for proteasomal degradation.
19960070 Single nucleotide polymorphism analysis suggests that the previously reported Indian family (PMK197) and the two Pakistani families studied here share the RHO p.Glu150Lys mutation due to a common ancestry.
19958124 Five novel rhodopsin mutations were c.365A>G in exon 2 (Glu122Gly), and c.233A> in exon 1 (Asn78Ile). The other three RHO mutations were Phe45Leu, Arg135Trp, and Ser186Trp. No peripherin/RDS gene mutations were demonstrated in the remaining 23 probands.
19955366 The results obtained from this study supported the P23H rhodopsin response the light-sensitive retinal degeneration.
19934218 EDEM1 promotes correct folding and enhanced degradation of rod opsin.
19836958 Studies indicate that activation of the model GPCR, rhodopsin, is triggered by photoisomerization of its retinal ligand.
19801547 Data show that demonstrate that Cnx preferentially associates with misfolded mutant opsins associated with retinitis pigmentosa.
19795853 Study shows that a strong perturbation of the retinal (13)C12 chemical shift observed in rhodopsin is reduced in wild-type metarhodopsin II and in the E181Q mutant of rhodopsin.
19506198 Mutations in PRPF31, RHO, and PRPH2 were found in low frequencies (1 of 9 autosomal dominant RP families) in Chinese patients, and the PRPF31 and PRPH2 truncating mutations were novel.
19506198 Observational study of gene-disease association. (HuGE Navigator)
19493002 Immunoreactivity to anti-rhodopsin antibodies was seen in human epidermis (except the basal layer) & reconstructed skin. The mRNA was seen in total RNA from skin. Neither immunoreactivity nor mRNA expression was seen in cultured human keratinocytes.
19439413 Thrombin promotes ATP release from A549 cells via Rho- and Ca(2+)-dependent activation of connexin/pannexin hemichannels.
19325938 no evidence for an association between telomere length and the severity of retinitis pigmentosa in patients with the Pro23His rhodopsin mutation
19325938 Observational study of gene-disease association. (HuGE Navigator)
19206210 Two structurally conserved low-affinity zinc coordination motifs, located among a cluster of retinitis pigmentosa mutations in the intradiscal loop region, mediate dose-dependent rhodopsin destabilization.
19085385 Patients with RHO (D190N) autosomal dominant retinitis pigmentosa (adRP) can show classic signs of retinitis pigmentosa on fundus examination and may be able to maintain good central visual acuity into adulthood.
18974094 IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA
18698306 a probable high-penetrance disease-causing sequence variation in the rhodopsin gene, a heterozygous ACG>ATG nucleotide substitution resulting in a Thr17Met amino acid change, was detected in a proband with unusual regionalized retinochoroidopathy
18552984 RHO, PRPF31, RP1, and IMPDH1 were screened and causative mutations were identifiedin 4% of isolated and 2% of autosomal dominant forms of retinitis pigmentosa patients from India.
18552984 Observational study of gene-disease association. (HuGE Navigator)
18487375 Mutant opsin activates transducin constitutively, which is a consistent and common feature of all congenital stationary night blindness-associated rhodopsin mutation.
18385078 Retinal laminar abnormalities were present in both classes of RHO-ADRP and were related to the severity of colocalized vision loss.
18318631 L:M cone ratio will be similar among populations that share the same X-chromosome opsin gene array organization.
18175313 two models of interaction for the human S-arrestin/rhodopsin complex
17936999 The novel R252P mutation in the RHO gene was found in the patients with retinitis pigmentosa from Bashkortostan.
17653048 Observational study of gene-disease association. (HuGE Navigator)
17653048 Japanese RHO locus is comprised of eight major haplotypes. Retinitis pigmentosa-associated haplotype was not identified.
17488458 Six of 12 families had an RHO mutation. The mutation V345M and the novel mutation 1003delG both caused classical Retinitis Pigmentosa.
17325176 Observational study of gene-disease association. (HuGE Navigator)
17289151 Transgenic rats were trained to find a one-way exit door leading into their home cage, based on distinguishing between two different visual alternatives.
16767206 Observational study of genetic testing. (HuGE Navigator)
16565402 Different amino acid substitutions at position 90 of rhodopsin can lead to night blindness or retinitis pigmentosa. The data suggest that the property of the substituted amino acid distinguishes between the phenotypes.
16229860 Frequency and pattern of rhodopsin point mutations in Chinese patients with autosomal dominant retinitis pigmentosa.
16185528 Observational study of genotype prevalence. (HuGE Navigator)
16049034 Rhodopsin mutations result in autosomal dominant retinitis pigmentosa (ADRP), the most frequent being Proline-23 substitution by histidine (RhoP23H).
15823756 Several different potential gain-of-function mechanisms for rhodopsin in autosomal dominant retinis pigmentosa.are described and discussed
15793783 A recurrent missense mutation, 512C>T (P171L), was detected in a Chinese family with autosomal dominant retinitis pigmentosa.
15726226 the autosomal dominant RP family showed the rhodopsin locus segregating concordantly with the disease.
15659613 Our results demonstrate that mutations in PRPF31 gene affect rhodopsin (RHO) pre-mRNA splicing and reveal a link between PRPF31 and RHO, two major genes in autosomal dominant retinitis pigmentosa.
15509574 dominant negative effect on conformational maturation that may underlie the dominant inheritance of autosomal dominant retinitis pigmentosa
15232620 Impaired endocytic activity may underlie the pathogenesis of retinitis pigmentosa caused by class III rhodopsin mutations.
14566652 A homozygous rhodopsin splice-site mutation is associated with retinitis pigmentosa
12871954 identification of rhodopsin mutations L125R and A164V which perturb critical interhelical interactions
12754272 data provide evidence that cytoplasmic chaperones HSJ1a and HSJ1b when targeted to the endoplasmic reticulum can influence the folding and processing of rhodopsin
12646201 mutations in rhodopsin could result in faster activation kinetics and play a role in retinitis pigmentosa
12601165 the transformation of rhodopsin to signaling metarhodopsin (Meta) II after retinal photoisomerization is due to a conserved motif
12590587 The rhodopsin night blindness mutant G90D has a previously unreported phenotype of slow binding of the 11-cis-retinal chromophore.
12359230 Retinitis pigmentosa-associated mutations associated with three membrane-located cysteine residues present three different biochemical phenotypes
12297272 The eye photoreceptor protein rhodopsin. Structural implications for retinal disease. Review.
12091393 A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system.
11972042 Comparison of rhodopsin mutation in dog and human for retinitis pigmentosa.
11910130 Mutations of codons 345 and 347 have been found which are associated with retinitis pigmentosa.

AA Sequence

MNGTEGPNFYVPFSNATGVVRSPFEYPQYYLAEPWQFSMLAAYMFLLIVLGFPINFLTLYVTVQHKKLRT      1 - 70
PLNYILLNLAVADLFMVLGGFTSTLYTSLHGYFVFGPTGCNLEGFFATLGGEIALWSLVVLAIERYVVVC     71 - 140
KPMSNFRFGENHAIMGVAFTWVMALACAAPPLAGWSRYIPEGLQCSCGIDYYTLKPEVNNESFVIYMFVV    141 - 210
HFTIPMIIIFFCYGQLVFTVKEAAAQQQESATTQKAEKEVTRMVIIMVIAFLICWVPYASVAFYIFTHQG    211 - 280
SNFGPIFMTIPAFFAKSAAIYNPVIYIMMNKQFRNCMLTTICCGKNPLGDDEASATVSKTETSQVAPA      281 - 348
//

Text Mined References (200)

PMID Year Title
26962691 2016 Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.
26467309 2016 A structural snapshot of the rhodopsin-arrestin complex.
26427449 2016 Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa.
26321861 2015 New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
26200343 2015 Crystal structure of rhodopsin bound to arrestin by femtosecond X-ray laser.
26114863 2015 Molecular Dynamics of Channelrhodopsin at the Early Stages of Channel Opening.
26105054 2015 The Activation Pathway of Human Rhodopsin in Comparison to Bovine Rhodopsin.
26045836 2015 Haplotypes of RHO polymorphisms and susceptibility to age-related macular degeneration.
25673879 2015 The Arf and Rab11 effector FIP3 acts synergistically with ASAP1 to direct Rabin8 in ciliary receptor targeting.
25637522 2015 Glycosylation of rhodopsin is necessary for its stability and incorporation into photoreceptor outer segment discs.
25408095 2015 Prevalence of Rhodopsin mutations in autosomal dominant Retinitis Pigmentosa in Spain: clinical and analytical review in 200 families.
25366773 2014 Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
25305340 2015 Nanodomain organization of rhodopsin in native human and murine rod outer segment disc membranes.
25274813 2014 Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa.
25268658 2014 Differential dynamics of extracellular and cytoplasmic domains in denatured States of rhodopsin.
25265376 2015 Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa.
25221422 2014 Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.
25203160 2014 Activation of G-protein-coupled receptors correlates with the formation of a continuous internal water pathway.
25171072 2014 Channelrhodopsin-2-expressed dorsal root ganglion neurons activates calcium channel currents and increases action potential in spinal cord.
25096327 2014 Rer1p regulates the ER retention of immature rhodopsin and modulates its intracellular trafficking.
25055872 2014 The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.
24918165 2014 A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.
24717605 2014 [Role of the Rho-kinase pathway in pulmonary arterial hypertension].
24664756 2014 The effects of IRE1, ATF6, and PERK signaling on adRP-linked rhodopsins.
24664733 2014 Current therapeutic strategies for P23H RHO-linked RP.
24618321 2014 A Pro23His mutation alters prenatal rod photoreceptor morphology in a transgenic swine model of retinitis pigmentosa.
24520188 2014 Assessing the correlation between mutant rhodopsin stability and the severity of retinitis pigmentosa.
24183693 2014 Amino acid conservation and interactions in rhodopsin: probing receptor activation by NMR spectroscopy.
24106275 2013 Retinitis pigmentosa mutants provide insight into the role of the N-terminal cap in rhodopsin folding, structure, and function.
23940033 2013 The severe autosomal dominant retinitis pigmentosa rhodopsin mutant Ter349Glu mislocalizes and induces rapid rod cell death.
23704327 2013 The giant spectrin ?V couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route.
23625926 2013 Thermal stability of rhodopsin and progression of retinitis pigmentosa: comparison of S186W and D190N rhodopsin mutants.
23579341 2013 Insights into congenital stationary night blindness based on the structure of G90D rhodopsin.
23557623 2013 Mapping cation entry in photoreceptors and inner retinal neurons during early degeneration in the P23H-3 rat retina.
23402891 2013 Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.
23288993 2012 Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.
23049240 2012 Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
22956602 2012 Selective activation of ATF6 and PERK endoplasmic reticulum stress signaling pathways prevent mutant rhodopsin accumulation.
22855534 2012 BiP prevents rod opsin aggregation.
22791210 2012 Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.
22736939 2012 Genotyping microarray: mutation screening in Spanish families with autosomal dominant retinitis pigmentosa.
22419850 2012 Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.
22334370 2012 Next-generation genetic testing for retinitis pigmentosa.
22251557 2012 Defective trafficking of rhodopsin and its role in retinal degenerations.
22219383 2012 IRE1 directs proteasomal and lysosomal degradation of misfolded rhodopsin.
22217031 2012 Association of p.P347L in the rhodopsin gene with early-onset cystoid macular edema in patients with retinitis pigmentosa.
22183380 2012 Development of a cellular model of rod opsin retinitis pigmentosa.
22183378 2012 Endoplasmic reticulum-associated degradation (ERAD) of misfolded glycoproteins and mutant P23H rhodopsin in photoreceptor cells.
22145929 2012 Post-translational modifications of the serotonin type 4 receptor heterologously expressed in mouse rod cells.
22126625 2012 Understanding rhodopsin mutations linked to the retinitis pigmentosa disease: a QM/MM and DFT/MRCI study.
21978933 2011 LPA receptor heterodimerizes with CD97 to amplify LPA-initiated RHO-dependent signaling and invasion in prostate cancer cells.
21940625 2011 Molecular mechanisms of disease for mutations at Gly-90 in rhodopsin.
21921035 2011 Chemical kinetic analysis of thermal decay of rhodopsin reveals unusual energetics of thermal isomerization and hydrolysis of Schiff base.
21677794 2011 Spectrum of rhodopsin mutations in Korean patients with retinitis pigmentosa.
21659526 2011 Thermal properties of rhodopsin: insight into the molecular mechanism of dim-light vision.
21402790 2011 A CHOP-regulated microRNA controls rhodopsin expression.
21352497 2011 Alterations in the photoactivation pathway of rhodopsin mutants associated with retinitis pigmentosa.
21174529 2011 A novel nonsense mutation in rhodopsin gene in two Indonesian families with autosomal recessive retinitis pigmentosa.
21094163 2011 Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.
20832389 2010 Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20697005 2010 An unusual retinal phenotype associated with a novel mutation in RHO.
20628051 2010 Electrostatic compensation restores trafficking of the autosomal recessive retinitis pigmentosa E150K opsin mutant to the plasma membrane.
20603337 2010 Replacing the rod with the cone transducin subunit decreases sensitivity and accelerates response decay.
20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
20558345 2010 The tyrosine kinase receptor c-met, its cognate ligand HGF and the tyrosine kinase receptor trasducers STAT3, PI3K and RHO in thyroid nodules associated with Hashimoto's thyroiditis: an immunohistochemical characterization.
20555336 2010 Linkage analysis and mutation screening of the rhodopsin gene in a Chinese Bai family with autosomal dominant retinitis pigmentosa.
20374723 2009 Rhodopsin-mediated retinitis pigmentosa.
20238025 2010 1 rhodopsin mutations in congenital night blindness.
20164459 2010 Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
20097236 2010 Clearance of Rhodopsin(P23H) aggregates requires the ERAD effector VCP.
19960070 2009 A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosa.
19958124 2009 Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.
19955366 2009 The role of rhodopsin glycosylation in protein folding, trafficking, and light-sensitive retinal degeneration.
19934218 2009 A dual role for EDEM1 in the processing of rod opsin.
19836958 2009 A G protein-coupled receptor at work: the rhodopsin model.
19801547 2009 Calnexin improves the folding efficiency of mutant rhodopsin in the presence of pharmacological chaperone 11-cis-retinal.
19795853 2009 6-s-cis Conformation and polar binding pocket of the retinal chromophore in the photoactivated state of rhodopsin.
19506198 2009 Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa.
19493002 2009 Expressions of rod and cone photoreceptor-like proteins in human epidermis.
19439413 2009 Thrombin promotes release of ATP from lung epithelial cells through coordinated activation of rho- and Ca2+-dependent signaling pathways.
19325938 2009 Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation.
19206210 2009 Conserved rhodopsin intradiscal structural motifs mediate stabilization: effects of zinc.
19085385 2008 Phenotype-genotype correlations in autosomal dominant retinitis pigmentosa caused by RHO, D190N.
18974094 2008 IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA.
18698306 A Thr17Met mutation is associated with an unusual retinochoroidopathy in an autosomal dominant pedigree.
18552984 2008 Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India.
18487375 2008 Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.
18385078 2008 Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.
18318631 2008 The L:M cone ratio in males of African descent with normal color vision.
18240029 2008 Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors.
18175313 2008 In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17936999 [The novel R252P mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan].
17693260 2007 SARA-regulated vesicular targeting underlies formation of the light-sensing organelle in mammalian rods.
17653048 2007 Mutation screening and haplotype analysis of the rhodopsin gene locus in Japanese patients with retinitis pigmentosa.
17488458 2007 Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F.
17325176 2007 Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
17289151 2007 Behavioral evaluation of visual function of rats using a visual discrimination apparatus.
16767206 2006 Utility of molecular testing for related retinal dystrophies.
16565402 2006 Different amino acid substitutions at the same position in rhodopsin lead to distinct phenotypes.
16381901 2006 The LIFEdb database in 2006.
16229860 2006 Mutational analysis of the rhodopsin gene in Chinese ADRP families by conformation sensitive gel electrophoresis.
16185528 2005 [Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].
16049034 2005 Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa.
15823756 2005 Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy.
15793783 2005 [A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa].
15726226 2005 A two-stage approach identifies a Q344X mutation in the rhodopsin gene of a Chinese Singaporean family with autosomal dominant retinitis pigmentosa.
15659613 2005 Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
15509574 2005 Suppression of wild-type rhodopsin maturation by mutants linked to autosomal dominant retinitis pigmentosa.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15251955 2004 Real-time quantitative PCR measurement of circulatory rhodopsin mRNA in healthy subjects and patients with diabetic retinopathy.
15232620 2004 Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes.
14566652 2003 A rare homozygous rhodopsin splice-site mutation: the issue of when and whether to offer presymptomatic testing.
12871954 2003 Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis.
12754272 2003 The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation.
12646201 2003 Altered functionality in rhodopsin point mutants associated with retinitis pigmentosa.
12601165 2003 Role of the conserved NPxxY(x)5,6F motif in the rhodopsin ground state and during activation.
12590587 2003 Slow binding of retinal to rhodopsin mutants G90D and T94D.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12359230 2002 Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes.
12297272 2002 The eye photoreceptor protein rhodopsin. Structural implications for retinal disease.
12091393 2002 A rhodopsin mutant linked to autosomal dominant retinitis pigmentosa is prone to aggregate and interacts with the ubiquitin proteasome system.
11910029 2002 Mass spectrometric analysis of the kinetics of in vivo rhodopsin phosphorylation.
11767049 2001 Localization of extracellular matrix receptors in ICGN mice, a strain of mice with hereditary nephrotic syndrome.
11498053 2001 Multiple phosphorylation of rhodopsin and the in vivo chemistry underlying rod photoreceptor dark adaptation.
11394879 2001 Molecular evidence that human ocular ciliary epithelium expresses components involved in phototransduction.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10980774 2000 Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.
10722682 2000 Interaction between the conserved region in the C-terminal domain of GRK2 and rhodopsin is necessary for GRK2 to catalyze receptor phosphorylation.
10636894 2000 The amino terminus of the fourth cytoplasmic loop of rhodopsin modulates rhodopsin-transducin interaction.
10051572 1999 Structure and function in rhodopsin: further elucidation of the role of the intradiscal cysteines, Cys-110, -185, and -187, in rhodopsin folding and function.
9888392 1999 A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.
9852134 1998 Characterization of dominant negative arrestins that inhibit beta2-adrenergic receptor internalization by distinct mechanisms.
9452035 1998 Rhodopsin mutation G109R in a family with autosomal dominant retinitis pigmentosa.
9169442 1997 Rhodopsin phosphorylation sites and their role in arrestin binding.
9099669 1997 Identification of protein kinase C phosphorylation sites on bovine rhodopsin.
8943080 1996 Transgenic mice carrying the dominant rhodopsin mutation P347S: evidence for defective vectorial transport of rhodopsin to the outer segments.
8841304 1996 Autosomal-dominant retinitis pigmentosa associated with an Arg-135-Trp point mutation of the rhodopsin gene. Clinical features and longitudinal observations.
8617805 1996 Structural and enzymatic aspects of rhodopsin phosphorylation.
8566799 1995 Sequence analysis of the 5.34-kb 5' flanking region of the human rhodopsin-encoding gene.
8554077 1996 Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene.
8430695 1993 Autosomal dominant retinitis pigmentosa: no evidence for nonallelic genetic heterogeneity on 3q.
8406457 1993 Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.
8401533 1993 Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
8366096 1993 Molecular cloning and expression of GRK6. A new member of the G protein-coupled receptor kinase family.
8358437 1993 Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
8353500 1993 Autosomal dominant 'sector' retinitis pigmentosa due to a point mutation predicting an Asn-15-Ser substitution of rhodopsin.
8317502 1993 Identification of novel rhodopsin mutations responsible for retinitis pigmentosa: implications for the structure and function of rhodopsin.
8288567 1994 Expression, purification, and characterization of the G protein-coupled receptor kinase GRK5.
8253795 1993 Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain.
8240107 1993 A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.
8180207 1994 Fluorescence studies of the location and membrane accessibility of the palmitoylation sites of rhodopsin.
8144599 1994 Phospholipid-stimulated autophosphorylation activates the G protein-coupled receptor kinase GRK5.
8107847 1994 Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.
8088850 1994 Further screening of the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
8081400 1994 Two new rhodopsin transversion mutations (L40R; M216K) in families with autosomal dominant retinitis pigmentosa.
8076945 1994 Identification of a novel rhodopsin mutation (Met-44-Thr) in a simplex case of retinitis pigmentosa.
8045708 1994 Autosomal dominant retinitis pigmentosa in a large family: a clinical and molecular genetic study.
7987385 1994 Missense rhodopsin mutation in a family with recessive RP.
7987331 1994 Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
7987326 1994 Identification of a new mutation at codon 171 of rhodopsin gene causing autosomal dominant retinitis pigmentosa.
7981701 1994 Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa.
7846071 1995 Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.
7673885 1995 Involvement of cGMP and calcium in the photoresponse in vertebrate photoreceptor cells.
7633434 1995 Rhodopsin mutation proline347-to-alanine in a family with autosomal dominant retinitis pigmentosa indicates an important role for proline at position 347.
7523628 1994 A rhodopsin gene mutation responsible for autosomal dominant retinitis pigmentosa results in a protein that is defective in localization to the photoreceptor outer segment.
6589631 1984 Isolation and nucleotide sequence of the gene encoding human rhodopsin.
3942531 1986 Rhodopsin and retinoblastoma. A monoclonal antibody histopathologic study.
3769527 1986 Assignment of the rhodopsin gene to human chromosome three, region 3q21-3q24 by in situ hybridization studies.
3350146 1988 Two adjacent cysteine residues in the C-terminal cytoplasmic fragment of bovine rhodopsin are palmitylated.
2629206 1989 Production of bovine rhodopsin by mammalian cell lines expressing cloned cDNA: spectrophotometry and subcellular localization.
2613244 1989 Autosomal dominant retinitis pigmentosa (ADRP): localization of an ADRP gene to the long arm of chromosome 3.
2333895 1990 Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3.
2239971 1990 Autosomal dominant retinitis pigmentosa: absence of the rhodopsin proline----histidine substitution (codon 23) in pedigrees from Europe.
2218504 1990 Rhodopsin mutants that bind but fail to activate transducin.
2215617 1990 Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa.
2137202 1990 A point mutation of the rhodopsin gene in one form of retinitis pigmentosa.
2016091 1991 Autosomal dominant retinitis pigmentosa: a new multi-allelic marker (D3S621) genetically linked to the disease locus (RP4).
1987955 1991 Autosomal dominant sectoral retinitis pigmentosa. Two families with transversion mutation in codon 23 of rhodopsin.
1985460 1991 A 3-bp deletion in the rhodopsin gene in a family with autosomal dominant retinitis pigmentosa.
1917988 1991 Phosphorylated rhodopsin and heparin induce similar conformational changes in arrestin.
1897520 1991 Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis.
1882937 1991 Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.
1862076 1991 Rhodopsin mutations in autosomal dominant retinitis pigmentosa.
1840561 1991 Pro-347-Arg mutation of the rhodopsin gene in autosomal dominant retinitis pigmentosa.
1833777 1991 Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.
1765377 1991 Autosomal dominant retinitis pigmentosa: four new mutations in rhodopsin, one of them in the retinal attachment site.
1589761 1992 On the molecular genetics of retinitis pigmentosa.
1580841 1992 Ocular findings associated with a rhodopsin gene codon 106 mutation. Glycine-to-arginine change in autosomal dominant retinitis pigmentosa.
1539595 1992 Recombination between rhodopsin and locus D3S47 (C17) in rhodopsin retinitis pigmentosa families.
1484692 1992 A six-generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine).
1418997 1992 Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa.
1391967 1992 Point mutations of rhodopsin gene found in Japanese families with autosomal dominant retinitis pigmentosa (ADRP).
1356370 1992 Constitutively active mutants of rhodopsin.
1302614 1992 Autosomal dominant retinitis pigmentosa: a novel mutation in the rhodopsin gene in the original 3q linked family.
1301135 1992 A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.