Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes.

@article{LordGrignon2004CharacterizationON,
  title={Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes.},
  author={Julie Lord-Grignon and Nicolas T{\'e}treault and Alan J. Mears and Anand Swaroop and Gilbert Bernier},
  journal={Investigative ophthalmology \& visual science},
  year={2004},
  volume={45 9},
  pages={
          3313-9
        }
}
PURPOSE Most retinal disease genes are preferentially expressed in photoreceptors, the light-sensitive cells involved in phototransduction. In addition, some of the genes linked to retinal diseases are essential for normal retinal development. The goal of this study was to identify new transcripts enriched in photoreceptors involved in retinal development or diseases. METHODS To isolate uncharacterized retinal transcripts, the bioinformatic method Digital Differential Display (DDD) was used… 
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TLDR
Findings provide evidence that transcriptomic alterations occur in the ADRP mouse model rhodopsin Q344X retina and that these processes may contribute to the dysfunction and neurodegeneration seen in this animal model.
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TLDR
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TLDR
The power of digital differential display is demonstrated to predict cell type-specific gene expression by hypothesis-driven analysis of tissue cDNA libraries and indicates the importance of mRNA splice site selection for glomerular filtration barrier function.
Identification of Genes Causing Autosomal Recessive Retinitis Pigmentosa
Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.
TLDR
Next-generation sequencing is an effective approach for detecting novel, rare mutations causing heterogeneous monogenic disorders such as RP, and with the addition of this technology, disease-causing mutations can now be identified in 65% of autosomal dominant RP cases.
Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping
TLDR
This study revealed interesting phenotypic aspects of BBS, including the first report of non-syndromic retinitis pigmentosa as a novel BBS phenotype and homozygosity mapping is shown as a robust approach that is highly suited for genetically heterogeneous autosomal recessive disorders in populations in which consanguinity is prevalent.
Sam 68-Like Mammalian Protein 2 , Identified by Digital Differential Display as Expressed by Podocytes , Is Induced in Proteinuria and Involved in Splice Site Selection of Vascular Endothelial Growth Factor
TLDR
Differential Display as Expressed by Podocytes, Is Induced in Proteinuria and Involved in Splice Site Selection of Vascular Endothelial Growth Factor Clemens D. Cohen, Peter P. Doran, Simone M. Rastaldi, and Matthias Kretzler.
Studies on Transcriptional Regulation in the Human Retina : Mapping of Transcriptional Start Sites of Retinal Expressed Genes and Functional Characterization of the CNGA 3 promoter

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