| The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant. | The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.
Bianco L, Arrigo A, Antropoli A, Del Fabbro S, Mauro L, Pina A, Bandello F, Battaglia Parodi M. | 03/8/2024 |
| Typical best vitelliform dystrophy secondary to biallelic variants in BEST1. | Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.
Dhoble P, Robson AG, Webster AR, Michaelides M. | 02/6/2024 |
| Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy. | Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.
Shi J, Tian L, Sun T, Zhang X, Xu K, Xie Y, Peng X, Tang X, Jin ZB, Li Y., Free PMC Article | 10/8/2023 |
| A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy. | A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.
Haque OI, Chandrasekaran A, Nabi F, Ahmad O, Marques JP, Ahmad T., Free PMC Article | 03/3/2023 |
| Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations. | Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.
Cideciyan AV, Jacobson SG, Sumaroka A, Swider M, Krishnan AK, Sheplock R, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Matsui Y, Kondo M, Heon E., Free PMC Article | 02/4/2023 |
| BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity. | BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X, Rong W., Free PMC Article | 01/21/2023 |
| Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons. | Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.
Wang Y, Jiang Y, Li X, Xiao X, Li S, Sun W, Wang P, Zhang Q. | 10/8/2022 |
| Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation. | Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.
Navinés-Ferrer A, Ruiz-Nogales S, Navarro R, Pomares E., Free PMC Article | 07/23/2022 |
| Self-organization and surface properties of hBest1 in models of biological membranes. | Self-organization and surface properties of hBest1 in models of biological membranes.
Doumanov JA, Mladenova K, Moskova-Doumanova V, Andreeva TD, Petrova SD. | 07/16/2022 |
| Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype. | Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.
Chowdhury S, Duvesh R, Kumaran M, Anjanamurthy R, Kumar J, Vanniarajan A, Devarajan B, Sundaresan P. | 05/14/2022 |
| Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies. | Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, Rejdak R, Kohl S, Zrenner E., Free PMC Article | 04/30/2022 |
| Clinical and molecular findings in patients with pattern dystrophy. | Clinical and molecular findings in patients with pattern dystrophy.
Sodi A, Mucciolo DP, Giorgio D, Passerini I, Pacini B, Bruschi M, Verdina T, Virgili G, Giansanti F, Murro V. | 01/29/2022 |
| A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1). | A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).
Pappalardo J, Heath Jeffery RC, Thompson JA, Chelva E, Pham Q, Constable IJ, McLaren TL, Lamey TM, De Roach JN, Chen FK. | 10/23/2021 |
| Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations. | Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations.
Zhao Q, Kong Y, Kittredge A, Li Y, Shen Y, Zhang Y, Tsang SH, Yang T., Free PMC Article | 10/23/2021 |
| Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials. | Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Casalino G, Khan KN, Armengol M, Wright G, Pontikos N, Georgiou M, Webster AR, Robson AG, Grewal PS, Michaelides M., Free PMC Article | 10/9/2021 |
| Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy. | Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA, Zein WM, Cukras CA, Sen HN, Maldonado RS, Huryn LA, Hufnagel RB., Free PMC Article | 10/2/2021 |
| Evaluating BEST1 mutations in pluripotent stem cell-derived retinal pigment epithelial cells. | Evaluating BEST1 mutations in pluripotent stem cell-derived retinal pigment epithelial cells.
Kittredge A, Zhang Y, Yang T., Free PMC Article | 07/3/2021 |
| Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies. | Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies.
Çavdarli C, Çavdarlı B, Alp MN. | 06/26/2021 |
| ""Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance"". | "Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".
Garza-Garza LA, León-Cachón RBR, Aguirre-Garza M, Garza-Leon M. | 04/13/2021 |
| Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene. | Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
Hufendiek K, Hufendiek K, Jägle H, Stöhr H, Book M, Spital G, Rustambayova G, Framme C, Weber BHF, Renner AB, Kellner U., Free PMC Article | 03/6/2021 |
| Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations. | Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
Shah M, Broadgate S, Shanks M, Clouston P, Yu J, MacLaren RE, Németh AH, Halford S, Downes SM., Free PMC Article | 01/16/2021 |
| Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy. | Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
Gao FJ, Qi YH, Hu FY, Wang DD, Xu P, Guo JL, Li JK, Zhang YJ, Li W, Chen F, Xu GZ, Liu W, Chang Q, Wu JH. | 01/9/2021 |
| Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies. | Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
Nachtigal AL, Milenkovic A, Brandl C, Schulz HL, Duerr LMJ, Lang GE, Reiff C, Herrmann P, Kellner U, Weber BHF., Free PMC Article | 12/12/2020 |
| Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families. | Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
Chibani Z, Abid IZ, Molbaek A, Söderkvist P, Feki J, Hmani-Aifa M. | 12/5/2020 |
| Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations. | Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.
Ji C, Li Y, Kittredge A, Hopiavuori A, Ward N, Yao P, Fukuda Y, Zhang Y, Tsang SH, Yang T., Free PMC Article | 11/21/2020 |