| New variants and in silico analyses in GRK1 associated Oguchi disease. | New variants and in silico analyses in GRK1 associated Oguchi disease.
Poulter JA, Gravett MSC, Taylor RL, Fujinami K, De Zaeytijd J, Bellingham J, Rehman AU, Hayashi T, Kondo M, Rehman A, Ansar M, Donnelly D, Toomes C, Ali M, UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, De Baere E, Leroy BP, Davies NP, Henderson RH, Webster AR, Rivolta C, Zeitz C, Mahroo OA, Arno G, Black GCM, McKibbin M, Harris SA, Khan KN, Inglehearn CF., Free PMC Article | 04/9/2022 |
| Disulfide Dimerization of Neuronal Calcium Sensor-1: Implications for Zinc and Redox Signaling. | Disulfide Dimerization of Neuronal Calcium Sensor-1: Implications for Zinc and Redox Signaling.
Baksheeva VE, Baldin AV, Zalevsky AO, Nazipova AA, Kazakov AS, Vladimirov VI, Gorokhovets NV, Devred F, Philippov PP, Bazhin AV, Golovin AV, Zamyatnin AA Jr, Zinchenko DV, Tsvetkov PO, Permyakov SE, Zernii EY., Free PMC Article | 12/18/2021 |
| Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene. | Non-genetic and genetic rewiring underlie adaptation to hypomorphic alleles of an essential gene.
Targa A, Larrimore KE, Wong CK, Chong YL, Fung R, Lee J, Choi H, Rancati G., Free PMC Article | 12/18/2021 |
| Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease. | Wide-field true-colour imaging and clinical characterization of a novel GRK1 mutation in Oguchi disease.
Ballios BG, Weisbrod D, Kohly R, Muni RH, Wright T, Yan P. | 10/10/2020 |
| In conclusion, in the present report, a novel missense mutation in GRK1 gene in homozygous state was reported in an Italian patient affected with Oguchi disease. | A novel GRK1 mutation in an Italian patient with Oguchi disease.
Mucciolo DP, Sodi A, Murro V, Passerini I, Palchetti S, Pelo E, Virgili G, Rizzo S. | 06/30/2018 |
| Gene analysis determined a novel GRK1 mutation c.923T>C, which caused Oguchi disease in all siblings. This mutation, was demonstrated by amino acid alignment analysis to be in a phylogenetically conserved region and resulted in an amino acid change from leucine to proline at position 308. Thus, the present study reports a novel missense mutation of GRK1 in the affected members of a consanguineous Turkish family. | A novel missense mutation of the GRK1 gene in Oguchi disease.
Teke MY, Citirik M, Kabacam S, Demircan S, Alikasifoglu M., Free PMC Article | 04/8/2017 |
| AAMP Regulates Endothelial Cell Migration and Angiogenesis Through RhoA/Rho Kinase Signaling. | AAMP Regulates Endothelial Cell Migration and Angiogenesis Through RhoA/Rho Kinase Signaling.
Hu J, Qiu J, Zheng Y, Zhang T, Yin T, Xie X, Wang G. | 12/31/2016 |
| In the Ca(2+)/NCS-1.D2R peptide complex, the C-terminal region adopts a 310 helix-turn-310 helix, whereas in the GRK1 peptide complex it forms an a-helix | Neuronal Calcium Sensor-1 Binds the D2 Dopamine Receptor and G-protein-coupled Receptor Kinase 1 (GRK1) Peptides Using Different Modes of Interactions.
Pandalaneni S, Karuppiah V, Saleem M, Haynes LP, Burgoyne RD, Mayans O, Derrick JP, Lian LY., Free PMC Article | 10/24/2015 |
| The identification of the c.1607_1610delCGGA mutation in a patient with Oguchi disease confirms the pathogenicity of this variant. | The first case of Oguchi disease, type 2 in a Polish patient with confirmed GRK1 gene mutation.
Skorczyk-Werner A, Kocięcki J, Wawrocka A, Wicher K, Krawczyńiski MR. | 10/3/2015 |
| Rho-kinase activity exhibits distinct circadian variation associated with alterations in coronary vasomotor responses and autonomic activity in VSA patients. | Circadian variation of Rho-kinase activity in circulating leukocytes of patients with vasospastic angina.
Nihei T, Takahashi J, Tsuburaya R, Ito Y, Shiroto T, Hao K, Takagi Y, Matsumoto Y, Nakayama M, Miyata S, Sakata Y, Ito K, Shimokawa H. | 08/22/2015 |
| The selective thinning of the inner retinal layers in patients with GRM6 mutations suggests either reduced bipolar or ganglion cell numbers or altered synaptic structure in the inner retina. | Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease.
Godara P, Cooper RF, Sergouniotis PI, Diederichs MA, Streb MR, Genead MA, McAnany JJ, Webster AR, Moore AT, Dubis AM, Neitz M, Dubra A, Stone EM, Fishman GA, Han DP, Michaelides M, Carroll J., Free PMC Article | 02/2/2013 |
| Defects in GRK1 or GRK7 cause patients to suffer from an inability to properly deactivate rhodopsin leading to problems with recovery and dark adaptation. | A tale of two kinases in rods and cones.
Osawa S, Weiss ER., Free PMC Article | 04/14/2012 |
| There are two genes that cause Oguchi disease: the G protein-coupled receptor kinase 1 gene and the S antigen gene. There is evidence that Oguchi disease and retinitis pigmentosa (RP) can coexist in the same family or even in the same individual | Oguchi disease masked by retinitis pigmentosa.
Sonoyama H, Shinoda K, Ishigami C, Tada Y, Ideta H, Ideta R, Takahashi M, Miyake Y. | 01/28/2012 |
| Genetic mapping supported the diagnosis of typical Oguchi disease in a Pakistani family and also resulted in the identification of a novel nonsense mutation (c.614C>A; p.S205X) in exon 1 of GRK1. | A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.
Azam M, Collin RW, Khan MI, Shah ST, Qureshi N, Ajmal M, den Hollander AI, Qamar R, Cremers FP., Free PMC Article | 01/21/2010 |
| A GRK1 region close to its C-terminus also seemed to be the binding site for S-modulin/recoverin. | Amino acid residues in GRK1/GRK7 responsible for interaction with S-modulin/recoverin.
Torisawa A, Arinobu D, Tachibanaki S, Kawamura S. | 01/21/2010 |
| Conserved bicoid homeodomain factors thus appear to be the key factors governing localization of GRK1 Enhancer/Promoter activity in retina and photoreceptors. | Conserved interactions of a compact highly active enhancer/promoter upstream of the rhodopsin kinase (GRK1) gene.
Young JE, Kasperek EM, Vogt TM, Lis A, Khani SC. | 01/21/2010 |
| The authors found two different novel mutations in Japanese patients. The results indicate that a considerable number of GRK1 mutations exist in the Japanese population. | Novel mutations in the GRK1 gene in Japanese patients With Oguchi disease.
Oishi A, Akimoto M, Kawagoe N, Mandai M, Takahashi M, Yoshimura N. | 01/21/2010 |
| The disease in the Pakistani family localizes to 13q34 and is caused by a novel deletion including Exon 3 of the GRK1 gene. | A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.
Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Yasmeen A, Rogan PK, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF. | 01/21/2010 |
| Phosphorylation of GRK1 and GRK7 by PKA occurs in the dark, when cAMP levels in photoreceptor cells are elevated. | Phosphorylation of GRK1 and GRK7 by cAMP-dependent protein kinase attenuates their enzymatic activities.
Horner TJ, Osawa S, Schaller MD, Weiss ER. | 01/21/2010 |
| RhoK activation in brain microvascular endothelial cells could be a cause of blood-brain barrier impairment during HIV-1 encephalitis. | Rho-mediated regulation of tight junctions during monocyte migration across the blood-brain barrier in HIV-1 encephalitis (HIVE).
Persidsky Y, Heilman D, Haorah J, Zelivyanskaya M, Persidsky R, Weber GA, Shimokawa H, Kaibuchi K, Ikezu T., Free PMC Article | 01/21/2010 |
| G protein-coupled receptor kinase site serine cluster has a role in beta2-adrenergic receptor internalization, desensitization, and beta-arrestin translocation | Role of the G protein-coupled receptor kinase site serine cluster in beta2-adrenergic receptor internalization, desensitization, and beta-arrestin translocation.
Vaughan DJ, Millman EE, Godines V, Friedman J, Tran TM, Dai W, Knoll BJ, Clark RB, Moore RH. | 01/21/2010 |
| A novel homozygous GRK1 mutation (p.P391H) was found in 2 Japanese siblings with Oguchi disease. | A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K. | 01/21/2010 |