| Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens. | Variants of Uncertain Significance: Twins With Identical Pathogenic Gene Mutations in Retinitis Punctata Albescens.
Richard AJ, Huckfeldt RM, Reichel E, Liang MC. | 12/11/2021 |
| 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 |
| Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees. | Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.
Al-Bdour M, Pauleck S, Dardas Z, Barham R, Ali D, Amr S, Mustafa L, Abu-Ameerh M, Maswadi R, Azab B, Awidi A., Free PMC Article | 05/15/2021 |
| Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice. | Effects of deficiency in the RLBP1-encoded visual cycle protein CRALBP on visual dysfunction in humans and mice.
Lima de Carvalho JR Jr, Kim HJ, Ueda K, Zhao J, Owji AP, Yang T, Tsang SH, Sparrow JR., Free PMC Article | 12/19/2020 |
| RLBP1 gene geographical area-related mutation is associated with retinitis punctata albescens. | A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens.
Scimone C, Donato L, Esposito T, Rinaldi C, D'Angelo R, Sidoti A., Free PMC Article | 05/26/2018 |
| we provide evidence for an allosteric modulation of the enzymatic activity by 11-cis retinoids. This regulation is independent from cellular retinaldehyde-binding protein (CRALBP), the major cis-retinoid binding protein. | Allosteric modulation of the substrate specificity of acyl-CoA wax alcohol acyltransferase 2.
Arne JM, Widjaja-Adhi MAK, Hughes T, Huynh KW, Silvaroli JA, Chelstowska S, Moiseenkova-Bell VY, Golczak M., Free PMC Article | 09/9/2017 |
| These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone. | Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.
Persad PJ, Heid IM, Weeks DE, Baird PN, de Jong EK, Haines JL, Pericak-Vance MA, Scott WK, International Age-Related Macular Degeneration Genomics Consortium (IAMDGC)., Free PMC Article | 08/26/2017 |
| 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 |
| Different mutations in RLBP1 are correlated with quite different morphological and functional characteristics outlines the complexity of the protein. | Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
Hipp S, Zobor G, Glöckle N, Mohr J, Kohl S, Zrenner E, Weisschuh N, Zobor D. | 10/31/2015 |
| RLBP1 gene is upregulated in patients with reactive retinal astrocytic tumors. | Retinal reactive astrocytic tumor: gene expression profiling.
Shehri M, Bouhenni R, Ghazi NG, Abu Safieh L, Edward DP. | 08/23/2014 |
| Patients with retinitis punctata albescens (RPA) show variable degrees of foveal cone death, even at an early stage. This finding has implications for future treatment. | Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, Hamel CP. | 12/14/2013 |
| The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation. | Genotype-phenotype correlations in Bothnia dystrophy caused by RLBP1 gene sequence variations.
Burstedt M, Jonsson F, Köhn L, Burstedt M, Kivitalo M, Golovleva I. | 10/19/2013 |
| The clinical characteristics of a Japanese patient with a homozygous R234W mutation in RLBP1 are very similar to that of Swedish patients with Bothnia dystrophy. | Clinical features of a Japanese case with Bothnia dystrophy.
Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, Kato M, Kondo M, Minoshima S, Hotta Y. | 09/29/2012 |
| 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 R234W mutation reveals impaired 11-cis-retinal release through stabilization of the ligand complex. | Molecular clues to Bothnia-type retinal dystrophy.
He X, Lobsiger J, Stocker A. | 04/14/2012 |
| mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families. | Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families.
Naz S, Ali S, Riazuddin SA, Farooq T, Butt NH, Zafar AU, Khan SN, Husnain T, Macdonald IM, Sieving PA, Hejtmancik JF, Riazuddin S., Free PMC Article | 08/13/2011 |
| Observational study of genetic testing. (HuGE Navigator) | See all PubMed (2) articlesSimultaneous 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. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
Clark GR, Crowe P, Muszynska D, O'Prey D, O'Neill J, Alexander S, Willoughby CE, McKay GJ, Silvestri G, Simpson DA. | 09/15/2010 |
| In the RLBP1-Bothnia dystrophy phenotype, a loss of function and thinning of the central macula are found, indicating early damage of the cone photoreceptors in this disease of the visual cycle. | Central retinal findings in Bothnia dystrophy caused by RLBP1 sequence variation.
Burstedt MS, Golovleva I. | 08/30/2010 |
| These results reveal an unanticipated domino-like structural transition causing Bothnia-type retinal dystrophy by the impaired release of 11-cis-retinal from R234W. | Bothnia dystrophy is caused by domino-like rearrangements in cellular retinaldehyde-binding protein mutant R234W.
He X, Lobsiger J, Stocker A., Free PMC Article | 01/21/2010 |
| Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia | Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
Martins-de-Souza D, Gattaz WF, Schmitt A, Rewerts C, Maccarrone G, Dias-Neto E, Turck CW. | 01/28/2009 |
| Bothnia dystrophy is caused by the loss of CRALBP function due to changed physical features and impaired activity of retinoid binding. | Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1.
Köhn L, Burstedt MS, Jonsson F, Kadzhaev K, Haamer E, Sandgren O, Golovleva I. | 01/21/2010 |
| The presence of CRALBP autoantibodies in 54% of tested uveitis patients supports CRALBP as a possible autoantigen in human autoimmune uveitis | CRALBP is a highly prevalent autoantigen for human autoimmune uveitis.
Deeg CA, Raith AJ, Amann B, Crabb JW, Thurau SR, Hauck SM, Ueffing M, Wildner G, Stangassinger M., Free PMC Article | 01/21/2010 |
| CRALBP transcripts in retinal pigment epithelium cells contain a noncoding exon in addition to a newly described promoter and, by definition, an additional intron | Identification of the RLBP1 gene promoter.
Vogel JS, Bullen EC, Teygong CL, Howard EW. | 01/21/2010 |
| Cellular retinaldehyde binding protein 1 (CRALBP) inhibits the reduction of 11-cis-retinal stronger than the oxidation of 11-cis-retinol, in accord with its higher affinity for 11-cis-retinal. | Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids.
Belyaeva OV, Korkina OV, Stetsenko AV, Kim T, Nelson PS, Kedishvili NY., Free PMC Article | 01/21/2010 |
| Patients with a clinical presentation of RPA (retinitis punctata albescens) can have genetically different mutations. | Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP. | 01/21/2010 |