| RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods. | RDH12 allows cone photoreceptors to regenerate opsin visual pigments from a chromophore precursor to escape competition with rods.
Kaylor JJ, Frederiksen R, Bedrosian CK, Huang M, Stennis-Weatherspoon D, Huynh T, Ngan T, Mulamreddy V, Sampath AP, Fain GL, Travis GH., | 09/13/2024 |
| Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort. | Clinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Daich Varela M, Moya R, Azevedo Souza Amaral R, Schlottmann PG, Álvarez Mendiara A, Francone A, Guazi Resende R, Capalbo L, Gelvez N, López G, Morales-Acevedo AM, Ossa RH, Arno G, Michaelides M, Tamayo ML, Ferraz Sallum JM. | 02/12/2024 |
| Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations. | Pseudocoloboma-like maculopathy with biallelic RDH12 missense mutations.
Kuo CY, Chung MY, Chen SJ., Free PMC Article | 08/23/2023 |
| Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy. | Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J, Wang Y, Li S, Xiao X, Yi Z, Jiang Y, Li X, Jia X, Wang P, Jin C, Sun W, Zhang Q., Free PMC Article | 08/27/2022 |
| Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations. | Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
Jin J, Liang L, Jin K, Zhang HJ, Liu R, Shen Y. | 08/6/2022 |
| Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing. | Investigation of genotype-phenotype relationship in Turkish patients with inherited retinal disease by next generation sequencing.
Duzkale N, Arslan U. | 02/5/2022 |
| Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China. | Molecular genetics with clinical characteristics of Leber congenital amaurosis in the Han population of western China.
Zhu L, Ouyang W, Zhang M, Wang H, Li S, Meng X, Yin ZQ. | 01/29/2022 |
| ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM. | ISOLATED MACULOPATHY AND MODERATE ROD-CONE DYSTROPHY REPRESENT THE MILDER END OF THE RDH12-RELATED RETINAL DYSTROPHY SPECTRUM.
De Zaeytijd J, Van Cauwenbergh C, De Bruyne M, Van Heetvelde M, De Baere E, Coppieters F, Leroy BP. | 12/18/2021 |
| Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies. | Involvement of Oxidative and Endoplasmic Reticulum Stress in RDH12-Related Retinopathies.
Sarkar H, Toms M, Moosajee M., Free PMC Article | 09/18/2021 |
| Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants. | Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A), associated with RDH12 variants.
Sarkar H, Méjécase C, Harding P, Eintracht J, Toualbi L, Cunha DL, Moosajee M., Free PMC Article | 09/18/2021 |
| Macula-predominant retinopathy associated with biallelic variants in RDH12. | Macula-predominant retinopathy associated with biallelic variants in RDH12.
Ba-Abbad R, Arno G, Robson AG, Bouras K, Georgiou M, Wright G, Webster AR, Michaelides M. | 06/26/2021 |
| Expanding the phenotypic spectrum in RDH12-associated retinal disease. | Expanding the phenotypic spectrum in RDH12-associated retinal disease.
Scott HA, Place EM, Ferenchak K, Zampaglione E, Wagner NE, Chao KR, DiTroia SP, Navarro-Gomez D, Mukai S, Huckfeldt RM, Pierce EA, Bujakowska KM., Free PMC Article | 05/29/2021 |
| A Novel RNA-Seq-Based Model for Preoperative Prediction of Lymph Node Metastasis in Oral Squamous Cell Carcinoma. | A Novel RNA-Seq-Based Model for Preoperative Prediction of Lymph Node Metastasis in Oral Squamous Cell Carcinoma.
Qiao B, Zhao M, Wu J, Wu H, Zhao Y, Meng F, Tian Y, Wang S, Shi J, Zhang H., Free PMC Article | 05/8/2021 |
| PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY. | PHENOTYPIC VARIABILITY OF RECESSIVE RDH12-ASSOCIATED RETINAL DYSTROPHY.
Zou X, Fu Q, Fang S, Li H, Ge Z, Yang L, Xu M, Sun Z, Li H, Li Y, Dong F, Chen R, Sui R. | 11/21/2020 |
| This study includes the largest collection of phenotypic data from children with RDH12-associated early-onset severe retinal dystrophy (EOSRD) and provides a comprehensive description of the timeline of vision loss in this severe, early-onset condition. | Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration.
Fahim AT, Bouzia Z, Branham KH, Kumaran N, Vargas ME, Feathers KL, Perera ND, Young K, Khan NW, Heckenlively JR, Webster AR, Pennesi ME, Ali RR, Thompson DA, Michaelides M., Free PMC Article | 05/30/2020 |
| study of genotype-phenotype correlations in RDH12-associated retinal degeneration [review] | Natural History and Genotype-Phenotype Correlations in RDH12-Associated Retinal Degeneration.
Fahim AT, Thompson DA., Free PMC Article | 02/8/2020 |
| RDH12-IRD causes an early-onset, retina-wide disease with particularly severe central retinal abnormalities associated with relatively less severe rod photoreceptor dysfunction, a pattern consistent with an early-onset cone-rod dystrophy. | RDH12 Mutations Cause a Severe Retinal Degeneration With Relatively Spared Rod Function.
Aleman TS, Uyhazi KE, Serrano LW, Vasireddy V, Bowman SJ, Ammar MJ, Pearson DJ, Maguire AM, Bennett J. | 05/11/2019 |
| The RDH12 compound heterozygous variants might be the cause of the LCA family. Our study adds to the molecular spectrum of RDH12-related retinopathy and offers an effective example of the power of phenotype-genotype correlations in molecular diagnosis of LCA. | Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis.
Li Y, Pan Q, Gu YS., Free PMC Article | 03/3/2018 |
| Peripapillary sparing is a novel phenotypic feature of RDH12-associated Leber congenital amaurosis. | Peripapillary sparing in RDH12-associated Leber congenital amaurosis.
Garg A, Lee W, Sengillo JD, Allikmets R, Garg K, Tsang SH., Free PMC Article | 12/2/2017 |
| The mutation detection of RDH12 in this study also implies that whole exome sequencing is a useful method for detection of potential mutations in small families with atypical clinical manifestations of genetic disease. | Late-onset CORD in a patient with RDH12 mutations identified by whole exome sequencing.
Xin W, Xiao X, Li S, Zhang Q. | 11/18/2017 |
| We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12). | Elevation deficiency in children with recessive RDH12-related retinopathy.
AlBakri A, Alkuraya FS, Khan AO. | 07/30/2016 |
| Mutations in the AIPL1 and RDH12 genes associated with leber congenital amaurosis in two Turkish families. | Genome-wide homozygosity mapping in families with leber congenital amaurosis identifies mutations in AIPL1 and RDH12 genes.
Yücel-Yılmaz D, Tarlan B, Kıratlı H, Ozgül RK. | 01/31/2015 |
| Here we demonstrate that microtubule-associated protein 1 light chain 3A (LC3A), a marker of autophagy, is related to hypoxia and poor prognosis in clear cell ovarian cancer. | The autophagy protein LC3A correlates with hypoxia and is a prognostic marker of patient survival in clear cell ovarian cancer.
Spowart JE, Townsend KN, Huwait H, Eshragh S, West NR, Ries JN, Kalloger S, Anglesio M, Gorski SM, Watson PH, Gilks CB, Huntsman DG, Lum JJ. | 01/10/2015 |
| The three patients with Leber congenital amaurosis/early-onset retinal dystrophy had a progressive decrease of their vision with the formation of a posterior staphyloma. | Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
Kuniyoshi K, Sakuramoto H, Yoshitake K, Abe K, Ikeo K, Furuno M, Tsunoda K, Kusaka S, Shimomura Y, Iwata T. | 06/14/2014 |
| Two novel missense mutations in the RDH12 gene are associated with retinitis pigmentosa. | Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosa.
Chacon-Camacho OF, Jitskii S, Buentello-Volante B, Quevedo-Martinez J, Zenteno JC. | 11/16/2013 |