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干细胞作为研究遗传性视网膜变性遗传学的工具。

Stem cells as tools for studying the genetics of inherited retinal degenerations.

作者信息

Wiley Luke A, Burnight Erin R, Mullins Robert F, Stone Edwin M, Tucker Budd A

机构信息

Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242.

Stephen A. Wynn Institute for Vision Research, Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa 52242 Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242.

出版信息

Cold Spring Harb Perspect Med. 2014 Dec 11;5(5):a017160. doi: 10.1101/cshperspect.a017160.

Abstract

The ability to provide early clinical intervention for inherited disorders is heavily dependent on knowledge of a patient's disease-causing mutations and the resultant pathophysiologic mechanism(s). Without knowing a patient's disease-causing gene, and how gene mutations alter the health and functionality of affected cells, it would be difficult to develop and deliver patient-specific molecular or small molecule therapies. Many believe that the field of stem cell biology holds the keys to the future development of disease-, patient-, and cell-specific therapies. In the case of the eye, which is susceptible to an extremely common late-onset degenerative disease known as age-related macular degeneration, stem cell-based therapies could increase the quality of life for millions of patients worldwide. Furthermore, autologous, patient-specific induced pluripotent stem cells could be a viable source to treat rare Mendelian retinal degenerative diseases such as retinitis pigmentosa, Stargardt disease, and Best disease, to name a few.

摘要

为遗传性疾病提供早期临床干预的能力在很大程度上依赖于对患者致病突变及其导致的病理生理机制的了解。如果不知道患者的致病基因,以及基因突变如何改变受影响细胞的健康和功能,就很难开发和提供针对患者的分子或小分子疗法。许多人认为,干细胞生物学领域是疾病、患者和细胞特异性疗法未来发展的关键。就眼睛而言,它易患一种极为常见的迟发性退行性疾病——年龄相关性黄斑变性,基于干细胞的疗法可以提高全球数百万患者的生活质量。此外,自体的、针对患者的诱导多能干细胞可能是治疗诸如色素性视网膜炎、斯塔加特病和贝斯特病等罕见孟德尔视网膜退行性疾病的可行来源。

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