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Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regions

Kraus, Dominik, Karlstetter, Marcus, Walcak, Y., Hilfinger, D. and Langmann, Thomas (2011) Retinal expression of the X-linked juvenile retinoschisis (RS1) gene is controlled by an upstream CpG island and two opposing CRX-bound regions. Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms 1809, pp. 245-254.

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Abstract

X-linked juvenile retinoschisis (XLRS) is an orphan retinal disease in males caused by mutations in the RS1 gene. Previously we have characterized cone-rod homeobox (CRX)-responsive elements in the promoter region of RS1 driving selective gene expression in the retina. Here, we expanded our identification and functional analysis of cis-regulatory elements controlling quantitative expression of ...

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Item type:Article
Date:2011
Institutions:Medicine > Lehrstuhl für Humangenetik
Identification Number:
ValueType
10.1016/j.bbagrm.2011.03.001DOI
21392589PubMed ID
Keywords:X-linked juvenile retinoschisis; RS1 gene; cis-regulatory elements; CRX-responsive element; CpG island
Dewey Decimal Classification:600 Technology > 610 Medical sciences Medicine
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Partially
Item ID:35189
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