Bestrophin1: A Gene that Causes Many Diseases
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Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/978-3-030-27378-1_69
Reference27 articles.
1. Burgess R, MacLaren RE, Davidson AE et al (2009) ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet 46:620–625. https://doi.org/10.1136/jmg.2008.059881
2. Carr A-J, Vugler A, Hikita ST, Lawrence JM et al (2009) Protective effects of human iPS-derived retinal pigment epithelium cell transplantation in the retinal dystrophic rat. PLoS One 4:e8152
3. Carter DA, Smart MJK, Letton WVG et al (2016) Mislocalisation of BEST1 in iPSC-derived retinal pigment epithelial cells from a family with autosomal dominant vitreoretinochoroidopathy (ADVIRC). Sci Rep 6:33792
4. Fischmeister R, Hartzell HC (2005) Volume sensitivity of the bestrophin family of chloride channels. J Physiol 562:477–491
5. Guziewicz KE, Slavik J, Lindauer SJP et al (2011) Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies. Investig Ophthalmol Vis Sci 52:4497–4505
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1. BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity;Molecular Genetics & Genomic Medicine;2022-11-15
2. 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;International Journal of Molecular Sciences;2022-07-04
3. Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families;International Journal of Ophthalmology;2022-02-18
4. Bestrophinopathies: perspectives on clinical disease, Bestrophin-1 function and developing therapies;Therapeutic Advances in Ophthalmology;2021-01
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