| Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease. | Mutation analysis reveals novel and known mutations in SAG gene in first two Egyptian families with Oguchi disease.
Tawfik CA, Elbagoury NM, Khater NI, Essawi ML., Free PMC Article | 06/11/2022 |
| Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family. | Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.
Pappalardo J, Heath Jeffery RC, Thompson JA, Charng J, Chelva ES, Constable IJ, McLaren TL, Lamey TM, De Roach JN, Chen FK. | 09/4/2021 |
| Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up. | Oguchi disease caused by a homozygous novel SAG splicing alteration associated with the multiple evanescent white dot syndrome: A 15-month follow-up.
Liu X, Gao L, Wang G, Long Y, Ren J, Fujinami K, Meng X, Li S. | 11/21/2020 |
| Retinitis pigmentosa with SAG mutations often shows a characteristic golden sheen surrounding posterior pigmentary retinal degeneration. Oguchi disease can show progressive degeneration in adulthood, rarely resulting in RP. | Phenotypic Features of Oguchi Disease and Retinitis Pigmentosa in Patients with S-Antigen Mutations: A Long-Term Follow-up Study.
Nishiguchi KM, Ikeda Y, Fujita K, Kunikata H, Akiho M, Hashimoto K, Hosono K, Kurata K, Koyanagi Y, Akiyama M, Suzuki T, Kawasaki R, Wada Y, Hotta Y, Sonoda KH, Murakami A, Nakazawa M, Nakazawa T, Abe T. | 03/14/2020 |
| Arrestin-1 was found to be expressed in RCC (58.7% of cases) and renal oncocytoma (90% of cases) cells, while being absent in healthy kidney. The expression of arrestin-1 in RCC metastases was more prominent than in primary tumours. Hypomethylation of the SAG gene promoter is unlikely to be the mechanism for the aberrant expression of arrestin-1. | Autoantibody against arrestin-1 as a potential biomarker of renal cell carcinoma.
Baldin AV, Grishina AN, Korolev DO, Kuznetsova EB, Golovastova MO, Kalpinskiy AS, Alekseev BY, Kaprin AD, Zinchenko DV, Savvateeva LV, Varshavsky VA, Zernii EY, Vinarov AZ, Bazhin AV, Philippov PP, Zamyatnin AA Jr. | 03/2/2019 |
| This is the first dominant-acting mutation identified in SAG, a founder mutation possibly originating in Mexico several centuries ago. The phenotype is clearly adRP and is distinct from the previously reported phenotypes of recessive null mutations, that is, Oguchi disease and recessive RP. | 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.
Sullivan LS, Bowne SJ, Koboldt DC, Cadena EL, Heckenlively JR, Branham KE, Wheaton DH, Jones KD, Ruiz RS, Pennesi ME, Yang P, Davis-Boozer D, Northrup H, Gurevich VV, Chen R, Xu M, Li Y, Birch DG, Daiger SP., Free PMC Article | 07/22/2017 |
| Macular dysfunction can occur in Oguchi disease with the 1147delA mutation in the SAG gene. | Macular Dysfunction in Oguchi Disease with the Frequent Mutation 1147delA in the SAG Gene.
Hayashi T, Tsuzuranuki S, Kozaki K, Urashima M, Tsuneoka H. | 12/5/2015 |
| Based on their observed affinity for arrestin-1, P-opsin and inactive P-Rh very likely affect the physiological monomer-dimer-tetramer equilibrium of arrestin-1, and should therefore be taken into account when modeling photoreceptor function. | Involvement of distinct arrestin-1 elements in binding to different functional forms of rhodopsin.
Zhuang T, Chen Q, Cho MK, Vishnivetskiy SA, Iverson TM, Gurevich VV, Sanders CR., Free PMC Article | 03/16/2013 |
| Compound heterozygosity of a nonsense R193X mutation and a heterozygous deletion of 3,224 bp encompassing exon 2 in the SAG gene is the cause of Oguchi's disease in a Chinese family. | A Chinese family with Oguchi's disease due to compound heterozygosity including a novel deletion in the arrestin gene.
Huang L, Li W, Tang W, Zhu X, Ou-Yang P, Lu G., Free PMC Article | 07/14/2012 |
| Identification of autoantibodies specific for two retinal antigens (CRALBP and S-Ag) supports the concept of an autoimmunological origin of the disease. | [Blind spot enlargement syndrome in acute zonal occult outer retinopathy with detection of autoantibodies against the retinal antigens CRALBP and S-Ag].
Neutzner RV, Jäger M, Friedburg C, Deeg CA, Lorenz B. | 04/21/2012 |
| the arrestin 1147delA, which has been known as a frequent cause of Oguchi disease, also may be related to the pathogenesis of autosomal recessive RP. | 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 |
| We describe a case of Oguchi disease with unusual findings caused by a putative heterozygous mutation in the SAG gene. | Oguchi disease with unusual findings associated with a heterozygous mutation in the SAG gene.
Fujinami K, Tsunoda K, Nakamura M, Oguchi Y, Miyake Y. | 12/10/2011 |
| maintenance of low levels of the active monomer is the biological role of arrestin-1 self-association | Robust self-association is a common feature of mammalian visual arrestin-1.
Kim M, Hanson SM, Vishnivetskiy SA, Song X, Cleghorn WM, Hubbell WL, Gurevich VV., Free PMC Article | 05/21/2011 |
| Observational study of genetic testing. (HuGE Navigator) | Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ. | 12/5/2010 |
| S-Ag specific T cells are present in certain active Behcet's disease patients, and most of them are activated memory CD4(+) T cells. | S-antigen specific T helper type 1 response is present in Behcet's disease.
Zhao C, Yang P, He H, Lin X, Li B, Zhou H, Huang X, Kijlstra A., Free PMC Article | 01/21/2010 |
| ARRESTIN binds to different phosphorylated regions of the thyrotropin-releasing hormone receptor with distinct functional consequences. | Arrestin binds to different phosphorylated regions of the thyrotropin-releasing hormone receptor with distinct functional consequences.
Jones BW, Hinkle PM., Free PMC Article | 01/21/2010 |
| two models of interaction for the human S-arrestin/rhodopsin complex | In silico study of the human rhodopsin and meta rhodopsin II/S-arrestin complexes: impact of single point mutations related to retina degenerative diseases.
Mokarzel-Falcón L, Padrón-García JA, Carrasco-Velar R, Berry C, Montero-Cabrera LA. | 01/21/2010 |
| Mutation 926delA of the SAG gene is the main cause of Oguchi disease in Japanese. This mutation appears to have been inherited from a single founder. | Gene analysis and evaluation of the single founder effect in Japanese patients with Oguchi disease.
Saga M, Mashima Y, Kudoh J, Oguchi Y, Shimizu N. | 01/21/2010 |
| studies suggest that IRBP and S-Ag can initiate innate and, in sensitive individuals, adaptive immune response by attracting iDCs and T and B cells expressing CXCR3 and CXCR5 | Autoantigens signal through chemokine receptors: uveitis antigens induce CXCR3- and CXCR5-expressing lymphocytes and immature dendritic cells to migrate.
Howard OM, Dong HF, Su SB, Caspi RR, Chen X, Plotz P, Oppenheim JJ., Free PMC Article | 01/21/2010 |
| The tetramer form of arrestin increases the arrestin-binding capacity of microtubules while readily dissociating to supply active monomer when it is needed to quench rhodopsin signaling. | Structure and function of the visual arrestin oligomer.
Hanson SM, Van Eps N, Francis DJ, Altenbach C, Vishnivetskiy SA, Arshavsky VY, Klug CS, Hubbell WL, Gurevich VV., Free PMC Article | 01/21/2010 |
| Rhodopsin-arrestin complexes alter the morphology of endosomal compartments and severely damage receptor-mediated endocytic functions in retinitis pigmentosa. | Structural and functional impairment of endocytic pathways by retinitis pigmentosa mutant rhodopsin-arrestin complexes.
Chuang JZ, Vega C, Jun W, Sung CH., Free PMC Article | 01/21/2010 |
| The existence of 2 novel mutations of the arrestin gene in 2 unrelated Japanese patients strongly supports the previous data that arrestin gene mutations are associated with Oguchi's disease | Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.
Nakamura M, Yamamoto S, Okada M, Ito S, Tano Y, Miyake Y. | 01/21/2010 |