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首页> 外文期刊>Investigative ophthalmology & visual science >N-Ethylmaleimide- Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium
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N-Ethylmaleimide- Sensitive Factor b (nsfb) Is Required for Normal Pigmentation of the Zebrafish Retinal Pigment Epithelium

机译:N-乙基马来酰亚胺敏感因子b(nsfb)是斑马鱼视网膜色素上皮的正常色素沉着所必需的

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PURPOSE. Despite the number of albinism-causing mutations identified in human patients and animal models, there remain a significant number of cases for which no mutation has been identified, suggesting that our understanding of melanogenesis is incomplete. Previously, we identified two oculocutaneous albinism mutations in zebrafish, au13 and au18. Here, we sought to identify the mutated loci and determine how the affected proteins contribute to normal pigmentation of the retinal pigment epithelium (RPE).
机译:目的。尽管在人类患者和动物模型中发现了许多引起白化病的突变,但仍然有大量病例尚未鉴定出突变,这表明我们对黑素生成的理解是不完整的。以前,我们在斑马鱼中发现了两个眼皮白化病突变,au13和au18。在这里,我们试图确定突变的基因座,并确定受影响的蛋白质如何促进视网膜色素上皮(RPE)的正常色素沉着。

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