Identification and characterization of genes expressed in cone photoreceptors.
Identification and characterization of genes expressed in cone photoreceptors.
复制标题
锥体光感受器中表达的基因的鉴定和表征。
DOI：
10.1007/978-0-387-74904-4_27
复制
发表时间：
2008
影响因子：
--
通讯作者：
Farber,DeboraB
中科院分区：
文献类型：
--
作者：
Saghizadeh,Mehrnoosh;Akhmedov,NovrouzB;Farber,DeboraB
大多数人类遗传性视网膜变性可被分类为视锥变性（如色素性视网膜炎）、视锥-视杆变性（以一些视锥营养不良为例）和仅影响视锥的疾病（即，视锥退化）（Krill，1977; Hamel，2007; Simunovic和摩尔，1998）。在这些疾病中，疾病过程通常难以分析，因为其时间过程缓慢（多年），并且用于形态学，生物化学或分子生物学研究的组织并不总是可用的。视网膜变性动物模型的使用和先进的生物技术有助于阐明其中一些疾病的原因以及突变基因导致失明的机制。一般来说，当存在广泛的视杆细胞变性时，无论这些细胞中基因产物的选择性或非选择性表达，都伴随着视锥细胞的丧失。
Most human hereditary retinal degenerations can be classified as rod-cone degenerations (such as retinitis pigmentosa), cone-rod degenerations (exemplified by some cone dystrophies), and diseases affecting cones exclusively (i.e., cone degenerations) (Krill, 1977; Hamel, 2007; Simunovic and Moore, 1998). In these disorders the disease process is often difficult to analyze because its time-course is slow (many years) and tissues for morphologic, biochemical or molecular biology studies are not always available. Use of animal models of retinal degeneration and advanced biotechnology have helped to elucidate the cause of some of these diseases and the mechanisms by which mutated genes lead to blindness. In general, when there is widespread degeneration of rods, regardless of the selective or not selective expression of the gene product in these cells, there is a concomitant loss of cones.