| Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa. | Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.
Zhuang J, Zhang R, Zhou B, Cao Z, Zhou J, Chen X, Zhang N, Zhu Y, Yang J. | 04/8/2024 |
| Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population. | Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population.
Tsutsui S, Murakami Y, Fujiwara K, Koyanagi Y, Akiyama M, Takeda A, Ikeda Y, Sonoda KH. | 02/1/2024 |
| Osmotic stress studies of G-protein-coupled receptor rhodopsin activation. | Osmotic stress studies of G-protein-coupled receptor rhodopsin activation.
Struts AV, Barmasov AV, Fried SDE, Hewage KSK, Perera SMDC, Brown MF. | 12/22/2023 |
| Retinal Organoid Models Show Heterozygous Rhodopsin Mutation Favors Endoplasmic Reticulum Stress-Induced Apoptosis in Rods. | Retinal Organoid Models Show Heterozygous Rhodopsin Mutation Favors Endoplasmic Reticulum Stress-Induced Apoptosis in Rods.
Yang Q, Li J, Zeng S, Li Z, Liu X, Li J, Zhou W, Chai Y, Zhou D. | 11/14/2023 |
| Rho Kinase Expression in Giant Cell Arteritis: Validating Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase Sensitivity of Temporal Artery Biopsy. | Rho Kinase Expression in Giant Cell Arteritis: Validating Phosphorylated Ezrin/Radixin/Moesin Intensity Score to Increase Sensitivity of Temporal Artery Biopsy.
Lally L, Narula N, Goodfellow N, Luqmani R, Pisapia D, Spiera RF. | 08/6/2022 |
| Identification of small-molecule allosteric modulators that act as enhancers/disrupters of rhodopsin oligomerization. | Identification of small-molecule allosteric modulators that act as enhancers/disrupters of rhodopsin oligomerization.
Getter T, Kemp A, Vinberg F, Palczewski K., Free PMC Article | 01/29/2022 |
| Structural Basis of Arrestin Selectivity for Active Phosphorylated G Protein-Coupled Receptors. | Structural Basis of Arrestin Selectivity for Active Phosphorylated G Protein-Coupled Receptors.
Karnam PC, Vishnivetskiy SA, Gurevich VV., Free PMC Article | 12/25/2021 |
| Conformational insights into the C-terminal mutations of human rhodopsin in retinitispigmentosa. | Conformational insights into the C-terminal mutations of human rhodopsin in retinitispigmentosa.
Picarazzi F, Manetti F, Marigo V, Mori M. | 12/18/2021 |
| Clinical and genetic findings in Italian patients with sector retinitis pigmentosa. | Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Verdina T, Greenstein VC, Tsang SH, Murro V, Mucciolo DP, Passerini I, Mastropasqua R, Cavallini GM, Virgili G, Giansanti F, Sodi A., Free PMC Article | 11/6/2021 |
| Proinflammatory Pathways Are Activated in the Human Q344X Rhodopsin Knock-In Mouse Model of Retinitis Pigmentosa. | Proinflammatory Pathways Are Activated in the Human Q344X Rhodopsin Knock-In Mouse Model of Retinitis Pigmentosa.
Hollingsworth TJ, Hubbard MG, Levi HJ, White W, Wang X, Simpson R, Jablonski MM, Gross AK., Free PMC Article | 10/2/2021 |
| Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant. | Phenocopy of a heterozygous carrier of X-linked retinitis pigmentosa due to mosaicism for a RHO variant.
Strubbe I, Van Cauwenbergh C, De Zaeytijd J, De Jaegere S, De Bruyne M, Rosseel T, Van de Sompele S, De Baere E, Leroy BP., Free PMC Article | 09/18/2021 |
| Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants. | Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.
Luo H, Xiao X, Li S, Sun W, Yi Z, Wang P, Zhang Q. | 04/24/2021 |
| Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene. | Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.
Kobal N, Krašovec T, Šuštar M, Volk M, Peterlin B, Hawlina M, Fakin A., Free PMC Article | 04/17/2021 |
| A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes. | A two-step method for identifying photopigment opsin and rhodopsin gene sequences underlying human color vision phenotypes.
Atilano SR, Kenney MC, Briscoe AD, Jameson KA., Free PMC Article | 02/6/2021 |
| An arrestin-1 surface opposite of its interface with photoactivated rhodopsin engages with enolase-1. | An arrestin-1 surface opposite of its interface with photoactivated rhodopsin engages with enolase-1.
Miranda CJ, Fernandez N, Kamel N, Turner D, Benzenhafer D, Bolch SN, Andring JT, McKenna R, Smith WC., Free PMC Article | 12/26/2020 |
| Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations. | Rod function deficit in retained photoreceptors of patients with class B Rhodopsin mutations.
Cideciyan AV, Jacobson SG, Roman AJ, Sumaroka A, Wu V, Charng J, Lisi B, Swider M, Aguirre GD, Beltran WA., Free PMC Article | 12/12/2020 |
| Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning. | Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning.
Penn WD, McKee AG, Kuntz CP, Woods H, Nash V, Gruenhagen TC, Roushar FJ, Chandak M, Hemmerich C, Rusch DB, Meiler J, Schlebach JP., Free PMC Article | 11/21/2020 |
| Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors. | Heterozygous RHO p.R135W missense mutation in a large Han-Chinese family with retinitis pigmentosa and different refractive errors.
Wu Y, Guo Y, Yi J, Xu H, Yuan L, Yang Z, Deng H., Free PMC Article | 09/12/2020 |
| Cotranslational Folding Defects to Membrane Protein Homeostasis | Contribution of Cotranslational Folding Defects to Membrane Protein Homeostasis.
Roushar FJ, Gruenhagen TC, Penn WD, Li B, Meiler J, Jastrzebska B, Schlebach JP., Free PMC Article | 06/13/2020 |
| Mutation in the rhodopsin gene is associated with Severe retinitis pigmentosa with posterior staphyloma. | Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation.
Smirnov VM, Marks C, Drumare I, Defoort-Dhellemmes S, Dhaenens CM. | 05/16/2020 |
| mutations of the rhodopsin gene are relatively frequent in Iranian patients with ADRP and could be considered in further researches in the future. The novel p.L95P variant may be associated with a specific pattern of retinal degeneration in this population | Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa.
Roshandel D, Rafati M, Khorami S, Novin Baheran N, Jalali S, Tabatabaie R, Rezai S, Ahmadieh H, Ghaffari SR. | 03/21/2020 |
| Our results not only expand the mutation spectrum of the RHO gene, but also suggest that the 2 null mutations might play minor dominant effects, leading to less severe and slower retinal degeneration in heterozygous state and more severe phenotype in homozygous state. | Identification of two novel RHO mutations in Chinese retinitis pigmentosa patients.
Wang J, Xu D, Zhu T, Zhou Y, Chen X, Wang F, Zhang J, Tian H, Gao F, Zhang J, Jin C, Xu J, Lu L, Liu Q, Xu GT. | 02/22/2020 |
| Structure-function correlation in mutated rhodopsin for signaling mechanism in night blindness. | Molecular interactions and mutational impact upon rhodopsin (G90→D90) for hindering dark adaptation of eye: A comparative structural level outlook for signaling mechanism in night blindness.
Banerjee A, Ray S. | 05/25/2019 |
| using cryo-electron microscopy, it is shown that the major interactions between activated rhodopsin and Gi are mediated by the C-terminal helix of the Gi alpha-subunit, which is wedged into the cytoplasmic cavity of the transmembrane helix bundle and directly contacts the amino terminus of helix 8 of rhodopsin | Cryo-EM structure of human rhodopsin bound to an inhibitory G protein.
Kang Y, Kuybeda O, de Waal PW, Mukherjee S, Van Eps N, Dutka P, Zhou XE, Bartesaghi A, Erramilli S, Morizumi T, Gu X, Yin Y, Liu P, Jiang Y, Meng X, Zhao G, Melcher K, Ernst OP, Kossiakoff AA, Subramaniam S, Xu HE., Free PMC Article | 12/22/2018 |
| The identification of the pathogenic variant p.E113 K is the first description of a naturally-occurring mutation in the Schiff base counterion of RHO in patients. The heterozygous mutation c.337G > A in exon 1 was confirmed in the retinitis pigmentosa index patient as well as in five stationary night blindness-affected relatives. | The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.
Reiff C, Owczarek-Lipska M, Spital G, Röger C, Hinz H, Jüschke C, Thiele H, Altmüller J, Nürnberg P, Da Costa R, Neidhardt J., Free PMC Article | 04/28/2018 |