Recombinant Human Bestrophin-1 (BEST1)

1. hBest1's channel activity in human retinal pigment epithelium is significantly enhanced by adenosine triphosphate in a dose-dependent manner PMID: 30087350
2. two recurrent genetic variations of BEST1 in two Chinese patients with either juvenile-onset BVMD or adult-onset BVMD were identified in this study. These findings expand the mutation spectrum of BEST1 and may aid in genetic counseling as well as prenatal diagnoses of patients with BVMD. PMID: 29115605
3. These results revealed that the disease-causing mechanism of BEST1 mutations is centered on the indispensable role of BESTROPHIN1 in mediating the long speculated Ca(2+)-dependent Cl(-) current in retinal pigment epithelium. PMID: 29063836
4. We describe a highly recognizable and reproducible retinal phenotype associated with a specific BEST1 mutation-p.Ala243Val in vitelliform macular dystrophy. PMID: 28225368
5. We present a consanguineous family of five affected individuals with autosomal recessive bestrophinopathy and four confirmed carriers. Their pedigree was consistent with dominant inheritance and incomplete penetrance. PMID: 28481155
6. We have shown that the two novel combinations of compound heterozygous mutations p.R141H/p.M325T and p.R141H/p.I201T in the BEST1 gene can also lead to the autosomal recessive bestrophinopathy phenotype. PMID: 26333019
7. The findings in this family emphasize the previously noted variability of clinical manifestations in BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) and the relevance of FAF and NIA imaging. Cystoid macular edema and vascular leakage can be successfully treated using dorzolamide. PMID: 26771239
8. For patients with Best vitelliform macular dystrophy, single heterozygous BEST1 mutations were identified in 13 patients and compound heterozygous mutations were found in 3 patients. For patients with autosomal recessive bestrophinopathy, biallelic mutations were found in 13 probands and single mutant alleles in six patients. Overall, 36 disease-causing variants (20 novel mutations) of the BEST1 gene were identified. PMID: 28687848
9. Mutation in BEST1 has variable penetrance and expressivity, and can be uniocular. PMID: 27287821
10. We identified 7 BEST1 variants, 2 of which were new in 9 cases of Japanese patients with autosomal recessive bestrophinopathy. PMID: 27163236
11. Of the 225 genetic tests performed, 150 were for recessive IRD, and 75 were for dominant IRD. A positive molecular diagnosis was made in 70 (59%) of probands with recessive IRD and 19 (26%) probands with dominant IRD. Thirty-two novel variants were identified; among these, 17 sequence changes in four genes were predicted to be possibly or probably damaging including: ABCA4 (14), BEST1 (2), PRPH2 (1), and TIMP3 PMID: 28005406
12. We describe the atypical phenotype and high intrafamilial variability associated with a new mutation in the BEST1 gene in an Italian family affected with Best vitelliform macular dystrophy. PMID: 26807628
13. A clinical picture similar to autosomal recessive bestrophinopathy can also be caused by a single heterozygous mutation in the BEST1 gene, such as the c.614T>C (p.I205T) variant in this family. PMID: 26716959
14. The secondary structure of Best1 and the effect of calcium have been described. PMID: 27768912
15. BVMD could present with other ocular disorders such as ACG and FCE. We also found 2 novel disease-causing mutations (p.Thr307Asp, p.Arg47His) of the BEST1 gene, one of which (p.Arg47His) has also been reported in adult-onset vitelliform macular dystrophy (AVMD) PMID: 27078032
16. Two previously unreported disease-associated variants in the BEST1 gene (p.Gly15Arg and p.Arg105Gly) were found in Slovenian patients with Best disease. PMID: 27775230
17. Nuclear spheres modulate the expression of BEST1 and GADD45G PMID: 26521045
18. Progressive posterior chorioretinal changes occurred over time in the initial ADVIRC proband, leading to visual loss. The causative mutation in this patient falls in the transmembrane domain of the BEST1 protein, with unclear functional consequences. PMID: 26849243
19. HEK293T cells transfected with the identified BEST1 mutant showed significantly small currents compared to those transfected with the wild-type gene, whereas cells cotransfected with mutant and wild-type BEST1 showed good chloride conductance PMID: 26720466
20. Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells. PMID: 25941382
21. We describe a novel mutation within the BEST1 gene of the heterozygous form giving rise to vitelliform lesions and secondary neovascularization successfully treated in a child with a course of bevacizumab. PMID: 25265375
22. Dysfunction of bestrophin 1 may result in abnormal ion and fluid transport by the retinal pigment epithelium (RPE) disturbing and even disrupting direct interactions between the RPE and the photoreceptors. PMID: 24328569
23. Two novel BEST1 mutations and associated clinical observations have been found in two unrelated patients with Best vitelliform macular dystrophy. PMID: 25936525
24. Twelve different variants, two of which (p.S7N and p.P346H) were novel, were identified in the 13 Japanese families with Best's vitelliform macular dystrophy. PMID: 26201355
25. Genetic sequence analysis of BEST1 is important in the diagnosis of Best vitelliform dystrophy, particularly in unusual cases, and helps to further our knowledge and understanding of this disease. PMID: 26099059
26. Best1 I366fsX18 differs from Best1 in that it lacks most of the cytosolic C-terminal domain, suggesting that the loss of this region contributes significantly to the pathogenesis of ARB in this patient. PMID: 26200502
27. Three novel BEST1 mutations are described, suggesting that many deleterious variants in BEST1 resulting in haploinsufficiency are still unknown. PMID: 25545482
28. BEST1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium. PMID: 25878489
29. The features and combinations of different BEST1 mutations as well as epistatic effects may influence phenotype expression in Chinese patients with bestrophinopathy. PMID: 25489231
30. We describe the clinical and genetic characteristics of a young male diagnosed with autosomal recessive bestrophinopathy associated with angle-closure glaucoma resulting from a novel homozygous mutation in BEST1. PMID: 24859690
31. Bestrophin-1 functions as an intracellular Cl channel which helps to accumulate and to release Ca(2+) from stores by conducting the counterion for Ca(2+). PMID: 24664688
32. Our current and past results indicate that mislocalization of Best1 is not an absolute feature of any individual bestrophinopathy. PMID: 24560797
33. Results show that different mutations in Best1 cause differential effects on its localization and that this effect varies with the presence or absence of wild-type (WT) Best1. PMID: 23825107
34. Best1V1 and Best1V1Deltaex2 formed Ca2+-activated Cl-channels, showing that the N-terminus is not essential for channel function. Best1V2-expressing cells had no detectable Ca2+-activated Cl-currents, pointing to a critical role for splicing of C-terminus. PMID: 24341532
35. Because of a relatively well preserved retinal function, autosomal recessive bestrophinopathy may be a suitable first candidate, among the BEST1-related ocular conditions, for gene replacement therapy. PMID: 24345323
36. Three basolateral sorting motifs might be implicated in proper Best1 basolateral localization. PMID: 23880862
37. In a large consanguineous family, the cosegregation of p.C251Y with a coherent ocular phenotype in all 5 patients strongly suggests traits associated with BEST1 homozygous mutations: ARB, angle-closure glaucoma, hyperopia, and cataracts. PMID: 23823511
38. Case Reports: siblings with missense mutation in BEST1 with retinoschisis and best vitelliform macular dystrophy. PMID: 23572118
39. Autosomal recessive bestrophinopathy is a recognizable phenotype caused by autosomal recessively inherited mutations in the BEST1 gene. PMID: 23290749
40. Ten variants in the BEST1 gene were detected in a group of Italian patients with clinically apparent vitelliform macular dystrophy. PMID: 23213274
41. This case of unilateral vitelliform phenotype further supports the notion that autosomal recessive bestrophinopathy represents a disease spectrum in terms of severity, age at onset and heritability. PMID: 22584882
42. Our data expand the mutation spectrum of BEST1 in patients with Best disease. Our frequency estimate confirms that Best disease is one of the most common causes of early macular degeneration. PMID: 22633354
43. Two siblings with homozygous Arg141His mutation developed symptoms of typical Best vitelliform dystrophy while their parents had clinical features of mild maculopathy. PMID: 21809908
44. Autosomal recessive Best vitelliform macular dystrophy can be caused by the compound heterozygous mutation L41P and I201T in the BEST1 gene. PMID: 22422030
45. Molecular screening of the candidate genes BEST1 and PRPH2 revealed no mutations. PMID: 22174098
46. report for the first time a phenotype-genotype correlation in a Czech patient with Best disease PMID: 22448417
47. Biallelic BEST1 sequence variants can be associated with at least two different phenotypes: Best vitelliform macular dystrophy and autosomal recessive bestrophinopathy. PMID: 22162627
48. BEST1 regulated cell function in the cytosol by regulating calcium signaling. PMID: 22183384
49. Bestrophinopathies are a group of inherited retinal disorders primarily caused by point mutations scattered throughout the BEST1 gene. PMID: 22183385
50. In truncating BEST1 mutations, the null phenotype associated with ARB is attributed to a substantial decrease of BEST1 expression promoted by the nonsense-mediated decay (NMD) surveillance mechanism. PMID: 22199244

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HGNC: 12703

OMIM: 153700

KEGG: hsa:7439

STRING: 9606.ENSP00000399709

UniGene: Hs.524910