[2]Toualbi L, Toms M, Moosajee M. USH2A-retinopathy: From genetics to therapeutics. Exp Eye Res. 2020 Dec;201:108330. [3]McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or n...
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated...
具有代表性的疗法思路是基因疗法(gene therapy)。基因疗法的概念自提出以来距今已有50年,主要是将遗传物质,例如完整拷贝的USH2A基因注入细胞内部,替换原先失去功能突变的USH2A基因,从而恢复细胞功能。由于眼球内免疫豁免环境(immune privilege)的原因,眼内基因疗法相较身体其他组织有与生俱来的优势。插入或敲除基因片段的...
[2]Toualbi L, Toms M, Moosajee M. USH2A-retinopathy: From genetics to therapeutics. Exp Eye Res. 2020 Dec;201:108330. [3]McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or n...
USH2A基因Usher综合征视网膜色素变性先天性聋遗传USH2A geneUsher syndromeRetinitis pigmentosaCongenital deafInheritanceUsher综合征是一种常见的综合征性视网膜色素变性(RP),为常染色体隐性遗传性疾病,具有临床和遗传高度异质性。迄今已将Usher综合征的致病基因定位了12个染色体位点,确定了其中的9个致病基因。很多研究证实US...
USH2A is the most common disease-causing gene among 14 genes related to Usher syndrome. Great progress has been achieved in the pathogenic mechanism, animal models studies, diagnosis, and treatments based on gene therapy, cells transplantation and antisense oligonucleotide-based splice correction. ...
该基因编码一种含有层粘连蛋白EGF基序、五肽域和许多纤连蛋白III型基序的蛋白质。这种蛋白存在于基底膜,可能在内耳和视网膜的发育和稳态中起重要作用。该基因突变与Usher综合征IIA型和视网膜色素变性有关。已发现该基因编码不同亚型的多个转录变体。This gene encodes a pr
USH2A is the most common disease-causing gene among 14 genes related to Usher syndrome. Great progress has been achieved in the pathogenic mechanism, animal models studies, diagnosis, and treatments based on gene therapy, cells transplantation and antisense oligonucleotide-based splice correction. ...
tesofUSH2Agene.Mutati ondetecti on wasconducted bydi rectsequenci ngofthe PCRproducts.Atotalof100 normalunrel atedi ndi vi dual s were usedas control s.Resul tsThe pati entswere i denti fi edtO beacompound heterozygote fort womutati ons:C.8272G>T( P.E2758X) i nexon 42f rom hi s...
[3]McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499-506. ...