| Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus. | Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T, Gong Q, Shen H, Li C, Wang G, Xu X, Schrauwen I, Wang W., Free PMC Article | 02/19/2022 |
| Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium. | Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium.
Sparrow JR, Parmann R, Tsang SH, Allikmets R, Chang S, Jauregui R., Free PMC Article | 10/9/2021 |
| Retinal dehydrogenase 5 (RHD5) attenuates metastasis via regulating HIPPO/YAP signaling pathway in Hepatocellular Carcinoma. | Retinal dehydrogenase 5 (RHD5) attenuates metastasis via regulating HIPPO/YAP signaling pathway in Hepatocellular Carcinoma.
Hu H, Xu L, Luo SJ, Xiang T, Chen Y, Cao ZR, Zhang YJ, Mo Z, Wang Y, Meng DF, Yu L, Lin LZ, Zhang SJ., Free PMC Article | 06/26/2021 |
| A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds. | A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.
Khan R, Shabbir RMK, Raza I, Abdullah U, Naeem MA, Ahmed A, Malik S, Hu Z, Xia K. | 03/13/2021 |
| Multimodal imaging and electroretinography of RDH5-related fundus albipunctatus (FAP) revealed high frequencies of macular involvement in older patients and decreased cone responses. | RDH5-Related Fundus Albipunctatus in a Large Japanese Cohort.
Katagiri S, Hayashi T, Nakamura M, Mizobuchi K, Gekka T, Komori S, Ueno S, Terasaki H, Sakuramoto H, Kuniyoshi K, Kusaka S, Nagashima R, Kondo M, Fujinami K, Tsunoda K, Matsuura T, Kondo H, Yoshitake K, Iwata T, Nakano T., Free PMC Article | 07/11/2020 |
| a novel homozygous missense mutation, (c.602 C > T) in exon 4 of the RDH5 gene (MIM: 601617) was identified. This mutation resulted in substitution of phenyl alanine for serine at amino acid 201 (p.Ser201Phe) of the RDH5 gene. Identification of this mutation reveals the allelic heterogeneity of RDH5 in patients with retinitis pigmentosa phenotype. | A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family.
Sultan N, Ali I, Bukhari SA, Baig SM, Asif M, Qasim M, Naseer MI, Rasool M. | 11/3/2018 |
| We conclude that the expression of Rlbp1 and Rdh5 critically depends on functional Mitf in the RPE and suggest that MITF has an important role in controlling retinoid processing in the RPE. | Microphthalmia-associated transcription factor regulates the visual cycle genes Rlbp1 and Rdh5 in the retinal pigment epithelium.
Wen B, Li S, Li H, Chen Y, Ma X, Wang J, Lu F, Qu J, Hou L., Free PMC Article | 12/17/2016 |
| A novel c.832C>T (p.Arg278Ter) nonsense mutation in RDH5 was identified. Preserved rod function was observed in one young subject in this study. | RDH5 retinopathy (fundus albipunctatus) with preserved rod function.
Liu X, Liu L, Li H, Xu F, Jiang R, Sui R. | 08/29/2015 |
| Macular cone density is lower and the regularity of the macular cone mosaic spatial arrangement is disrupted in eyes with fundus albipunctatus. | Cone abnormalities in fundus albipunctatus associated with RDH5 mutations assessed using adaptive optics scanning laser ophthalmoscopy.
Makiyama Y, Ooto S, Hangai M, Ogino K, Gotoh N, Oishi A, Yoshimura N. | 04/26/2014 |
| RDH5 sequence analysis revealed a novel five base pair deletion, c.913_917delGTGCT (p.Val305Hisfs*29), in family A, and a novel missense mutation, c.758T>G (p.Met253Arg), in family B with fundus albipunctatus. | Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Ajmal M, Khan MI, Neveling K, Khan YM, Ali SH, Ahmed W, Iqbal MS, Azam M, den Hollander AI, Collin RW, Qamar R, Cremers FP., Free PMC Article | 11/17/2012 |
| Four novel RDH5 gene mutations were identified in fundus albipunctatus Israeli patients. Of them, the null mutations c.343C>T (p.R54X) and c. 242delTGCC were the most prevalent. | Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.
Pras E, Pras E, Reznik-Wolf H, Sharon D, Raivech S, Barkana Y, Abu-Horowitz A, Ygal R, Banin E., Free PMC Article | 11/17/2012 |
| The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC --> AGC) and a nonsense mutation of Trp95ter (TGG --> TGA) in the RDH5 gene. | Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature.
Wang NK, Chuang LH, Lai CC, Chou CL, Chu HY, Yeung L, Chen YP, Chen KJ, Wu WC, Chen TL, Chao AN, Hwang YS. | 11/3/2012 |
| The clinical and electrophysiologic phenotype of patients with RDH5 retinopathy is variable. | Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).
Sergouniotis PI, Sohn EH, Li Z, McBain VA, Wright GA, Moore AT, Robson AG, Holder GE, Webster AR. | 09/24/2011 |
| Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation. | Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.
Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Eckstein C, Rosenberg T. | 02/26/2011 |
| 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 |
| An amino acid important for steroid/retinoid discrimination was identified and its significance was highlighted by the results of molecular modeling studies. | Molecular framework of steroid/retinoid discrimination in 17beta-hydroxysteroid dehydrogenase type 1 and photoreceptor-associated retinol dehydrogenase.
Haller F, Moman E, Hartmann RW, Adamski J, Mindnich R. | 06/14/2010 |
| study describes an unusual family which included a mother with fundus albipunctatus and three children with typical retinitis pigmentosa; a novel RDH5 mutation was found | Novel RDH5 mutation in family with mother having fundus albipunctatus and three children with retinitis pigmentosa.
Wang C, Nakanishi N, Ohishi K, Hikoya A, Koide K, Sato M, Nakamura M, Hotta Y, Minoshima S. | 01/21/2010 |
| Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) | A study to survey susceptible genetic factors responsible for troglitazone-associated hepatotoxicity in Japanese patients with type 2 diabetes mellitus.
Watanabe I, Tomita A, Shimizu M, Sugawara M, Yasumo H, Koishi R, Takahashi T, Miyoshi K, Nakamura K, Izumi T, Matsushita Y, Furukawa H, Haruyama H, Koga T. | 03/13/2008 |
| Macular dystrophy is caused by the RDH5 gene mutation as a phenotype variation in fundus albipunctatus. | Macular dystrophy in a Japanese family with fundus albipunctatus.
Hotta K, Nakamura M, Kondo M, Ito S, Terasaki H, Miyake Y, Hida T. | 01/21/2010 |
| Cone dystrophy can be present in patients with fundus albipunctatus, not only elderly men but also young women. | Young monozygotic twin sisters with fundus albipunctatus and cone dystrophy.
Nakamura M, Lin J, Miyake Y. | 01/21/2010 |
| A homozygous G490T (Val164Phe) missense RDH5 gene mutation was detected. | A novel RDH5 gene mutation in a patient with fundus albipunctatus presenting with macular atrophy and fading white dots.
Yamamoto H, Yakushijin K, Kusuhara S, Escaño MF, Nagai A, Negi A. | 01/21/2010 |
| Macular dystrophy is caused by the RDH5 mutation as a phenotype variation in fundus albipunctus. | Macular dystrophy in a 9-year-old boy with fundus albipunctatus.
Nakamura M, Miyake Y. | 01/21/2010 |
| Our study indicates that different mutations in the RDH5 gene can cause phenotypic variations of either fundus albipunctatus or familial fleck retina with night blindness. | Compound heterozygous RDH5 mutations in familial fleck retina with night blindness.
Hayashi T, Goto-Omoto S, Takeuchi T, Gekka T, Ueoka Y, Kitahara K. | 01/21/2010 |
| Fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene. | Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.
Sekiya K, Nakazawa M, Ohguro H, Usui T, Tanimoto N, Abe H. | 01/21/2010 |
| RDH5 gene mutations cause a progressive cone dystrophy or macular dystrophy as well as night blindness. The clinical phenotype including electrophysiological responses varied among patients with the RDH5 gene mutations. | RDH5 gene mutations and electroretinogram in fundus albipunctatus with or without macular dystrophy: RDH5 mutations and ERG in fundus albipunctatus.
Nakamura M, Skalet J, Miyake Y. | 01/21/2010 |