迟发性视网膜变性:临床特征和C1QTNF5/CTRP5功能。

4区 医学 Q2 Biochemistry, Genetics and Molecular Biology
Ana Alonso-Carriazo Fernández, Amanda-Jayne F Carr
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引用次数: 0

摘要

迟发性视网膜变性(L-ORD)是一种罕见的常染色体显性遗传性黄斑疾病,由C1QTNF5 (CTRP5)突变引起。虽然病理生理特征不同,但患者常表现为黄白色点状病变和亚rpe沉积。多项硅、体外和体内研究已经研究了C1QTNF5突变导致L-ORD的分子机制。本文综述了L-ORD的主要临床发现和临床管理,并重点介绍了C1QNTF5基因、蛋白结构和功能在健康和疾病中的作用。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.

Late-onset retinal degeneration (L-ORD) is a rare autosomal dominant inherited macular disease caused by mutations in C1QTNF5 (CTRP5). While pathophysiological features vary, patients often present yellow-white punctate lesions and sub-RPE deposits. Multiple in silico, in vitro and in vivo studies have investigated the molecular mechanisms by which C1QTNF5 mutations lead to L-ORD. This review summarises key clinical findings and clinical management of L-ORD and focuses on what is known about the C1QNTF5 gene, protein structure and function, in health and disease.

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来源期刊
Advances in experimental medicine and biology
Advances in experimental medicine and biology 医学-医学:研究与实验
CiteScore
5.90
自引率
0.00%
发文量
465
审稿时长
2-4 weeks
期刊介绍: Advances in Experimental Medicine and Biology provides a platform for scientific contributions in the main disciplines of the biomedicine and the life sciences. This series publishes thematic volumes on contemporary research in the areas of microbiology, immunology, neurosciences, biochemistry, biomedical engineering, genetics, physiology, and cancer research. Covering emerging topics and techniques in basic and clinical science, it brings together clinicians and researchers from various fields.
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