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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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About

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Gene Review: 

RD3  -  retinal degeneration 3

Homo sapiens

Synonyms: C1orf36, LCA12, Protein RD3, Retinal degeneration protein 3
 
 
 
 
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High impact information on RD3

  • This enabled us to perform a mutational analysis of the C1orf36 coding region of about 300 patients affected by retinitis pigmentosa [1].
  • Additional sequence analysis of the C1orf36 gene product predicts its subcellular mitochondrial localization and the presence of both evolutionary conserved phosphorylation sites and regions adopting a coiled-coil conformation [1].
 

Anatomical context of RD3

 

Analytical, diagnostic and therapeutic context of RD3

  • Accordingly, in situ hybridization experiments, performed using as probe a murine C1orf36 cDNA fragment, detected a hybridization signal on mouse retinal adult sections [1].
  • PCR experiments performed using human cDNA from several sources indicate that C1orf36 has a preferential expression in the retina [1].

References

  1. Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Lavorgna, G., Lestingi, M., Ziviello, C., Testa, F., Simonelli, F., Manitto, M.P., Brancato, R., Ferrari, M., Rinaldi, E., Ciccodicola, A., Banfi, S. Biochem. Biophys. Res. Commun. (2003) [Pubmed]
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