Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
作者信息
Ramsden Simon C, Davidson Alice E, Leroy Bart P, Moore Anthony T, Webster Andrew R, Black Graeme C M, Manson Forbes D C
机构信息
Genetic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
出版信息
Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.251. Epub 2012 Jan 11.
Abstract
摘要
相似文献
1
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).BEST1相关营养不良症（Bestrophinopathies）的临床实用基因卡片
Eur J Hum Genet. 2012 May;20(5). doi: 10.1038/ejhg.2011.251. Epub 2012 Jan 11.
2
[Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies].[与Bestrophin 1及Bestrophinopathy相关的突变依赖性机制及其对靶向治疗策略的影响]
Klin Monbl Augenheilkd. 2020 Mar;237(3):259-266. doi: 10.1055/a-1065-2129. Epub 2020 Mar 2.
3
Recombinant AAV-mediated BEST1 transfer to the retinal pigment epithelium: analysis of serotype-dependent retinal effects.重组 AAV 介导的 BEST1 向视网膜色素上皮的转移：血清型依赖性视网膜效应分析。
PLoS One. 2013 Oct 15;8(10):e75666. doi: 10.1371/journal.pone.0075666. eCollection 2013.
4
Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies.BEST1 基因突变的分子后果可预测犬多发性视网膜病变对人类 bestrophinopathies 的功能影响。
Invest Ophthalmol Vis Sci. 2011 Jun 23;52(7):4497-505. doi: 10.1167/iovs.10-6385.
5
Bestrophin1: A Gene that Causes Many Diseases.Bestrophin1：一种导致多种疾病的基因。
Adv Exp Med Biol. 2019;1185:419-423. doi: 10.1007/978-3-030-27378-1_69.
6
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.对青少年和成年型卵黄样黄斑营养不良进行 BEST1 和 PRPH2 的系统筛查：分子分析的原理。
Ophthalmology. 2011 Jun;118(6):1130-6. doi: 10.1016/j.ophtha.2010.10.010. Epub 2011 Jan 26.
7
Functional roles of bestrophins in ocular epithelia.Bestrophins在眼上皮中的功能作用。
Prog Retin Eye Res. 2009 May;28(3):206-26. doi: 10.1016/j.preteyeres.2009.04.004. Epub 2009 May 4.
8
A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.一份关于通过靶向基因分析对遗传性视网膜营养不良进行分子诊断检测的报告。
Genet Test Mol Biomarkers. 2017 Feb;21(2):66-73. doi: 10.1089/gtmb.2016.0251. Epub 2016 Dec 22.
9
Modeling the structural consequences of BEST1 missense mutations.模拟BEST1错义突变的结构后果。
Adv Exp Med Biol. 2012;723:611-8. doi: 10.1007/978-1-4614-0631-0_78.
10
BESTROPHIN1 mutations cause defective chloride conductance in patient stem cell-derived RPE.贝斯特罗芬1基因突变导致患者干细胞来源的视网膜色素上皮细胞中氯离子传导缺陷。
Hum Mol Genet. 2016 Jul 1;25(13):2672-2680. doi: 10.1093/hmg/ddw126. Epub 2016 May 18.
引用本文的文献
1
Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort.在一个经过大规模分子特征分析的英国队列中，最常见的遗传性视网膜疾病相关基因的遗传变异谱。
Ophthalmol Retina. 2024 Jul;8(7):699-709. doi: 10.1016/j.oret.2024.01.012. Epub 2024 Jan 12.
2
Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient.常染色体隐性 Bestrophinopathy 合并 1 型神经纤维瘤病患者一例。
BMC Ophthalmol. 2023 Apr 11;23(1):151. doi: 10.1186/s12886-023-02905-5.
3
Bilaterally symmetric neurosensory detachments in an elderly male.一名老年男性双侧对称性神经感觉脱离。
Indian J Ophthalmol. 2023 Feb;71(2):342. doi: 10.4103/ijo.IJO_1806_22.
本文引用的文献
1
ISCEV standard for clinical electro-oculography (2010 update).临床眼电图的国际临床视觉电生理学会（ISCEV）标准（2010年更新版）
Doc Ophthalmol. 2011 Feb;122(1):1-7. doi: 10.1007/s10633-011-9259-0. Epub 2011 Feb 5.
2
3
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.视网膜色素上皮蛋白Bestrophin-1中的错义突变会导致色素性视网膜炎。
Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22.
4
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.由BEST1基因突变引起的眼部表型谱。
Prog Retin Eye Res. 2009 May;28(3):187-205. doi: 10.1016/j.preteyeres.2009.04.002. Epub 2009 Apr 16.
5
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.在一个受Best病影响且携带BEST1基因新型自发突变的家族中，眼电图正常。
Br J Ophthalmol. 2008 Nov;92(11):1467-70. doi: 10.1136/bjo.2008.143776. Epub 2008 Aug 14.
6
ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.常染色体显性遗传性黄斑营养不良（ADVIRC）由 BEST1 基因的不同突变引起，这些突变会改变前体信使核糖核酸（pre-mRNA）的剪接。
J Med Genet. 2009 Sep;46(9):620-5. doi: 10.1136/jmg.2008.059881. Epub 2008 Jul 8.
7
Biallelic mutation of BEST1 causes a distinct retinopathy in humans.BEST1基因的双等位基因突变会导致人类出现一种独特的视网膜病变。
Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004.
8
Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.多灶性卵黄样营养不良的临床和遗传异质性。
Arch Ophthalmol. 2007 Aug;125(8):1100-6. doi: 10.1001/archopht.125.8.1100.
9
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).VMD2剪接调节因子的突变会导致小眼球症和常染色体显性遗传性玻璃体视网膜脉络膜病变（ADVIRC）。
Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550.
10
Identification of the gene responsible for Best macular dystrophy.导致贝斯特黄斑营养不良的基因鉴定。
Nat Genet. 1998 Jul;19(3):241-7. doi: 10.1038/915.
Zotero 插件