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PROGRESS TOWARD UNDERSTANDING THE GENETIC AND BIOCHEMICAL MECHANISMS OF INHERITED PHOTORECEPTOR DEGENERATIONS.

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Title: PROGRESS TOWARD UNDERSTANDING THE GENETIC AND BIOCHEMICAL MECHANISMS OF INHERITED PHOTORECEPTOR DEGENERATIONS.
Authors: Pacione, Laura R., Szego, Michael J., Ikeda, Sakae, Nishina, Patsy M., McInnes, Roderick R.
Source: Annual Review of Neuroscience. 2003, Vol. 26 Issue 1, p657-700. 46p.
Subjects: Photoreceptors, Genes, Cells, Retina, Genetic mutation
Abstract: More than 80 genes associated with human photoreceptor degenerations have been identified. Attention must now turn toward defining the mechanisms that lead to photoreceptor death, which occurs years to decades after the birth of the cells. Consequently, this review focuses on topics that offer insights into such mechanisms, including the one-hit or constant risk model of photoreceptor death; topological patterns of photoreceptor degeneration; mutations in ubiquitously expressed splicing factor genes associated only with photoreceptor degeneration; disorders of the retinal pigment epithelium; modifier genes; and global gene expression analysis of the retina, which will greatly increase our understanding of the downstream events that occur in response to a mutation. [ABSTRACT FROM AUTHOR]
Copyright of Annual Review of Neuroscience is the property of Annual Reviews Inc. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: <searchLink fieldCode="DE" term="%22Photoreceptors%22">Photoreceptors</searchLink><br /><searchLink fieldCode="DE" term="%22Genes%22">Genes</searchLink><br /><searchLink fieldCode="DE" term="%22Cells%22">Cells</searchLink><br /><searchLink fieldCode="DE" term="%22Retina%22">Retina</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink>
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  Data: More than 80 genes associated with human photoreceptor degenerations have been identified. Attention must now turn toward defining the mechanisms that lead to photoreceptor death, which occurs years to decades after the birth of the cells. Consequently, this review focuses on topics that offer insights into such mechanisms, including the one-hit or constant risk model of photoreceptor death; topological patterns of photoreceptor degeneration; mutations in ubiquitously expressed splicing factor genes associated only with photoreceptor degeneration; disorders of the retinal pigment epithelium; modifier genes; and global gene expression analysis of the retina, which will greatly increase our understanding of the downstream events that occur in response to a mutation. [ABSTRACT FROM AUTHOR]
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  Data: <i>Copyright of Annual Review of Neuroscience is the property of Annual Reviews Inc. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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              Text: 2003
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