Disease-associated variants of the rod-derived cone viability factor (RdCVF) in leber congenital amaurosis: Rod-derived cone viability variants in LCA

Advances in Experimental Medicine and Biology

Volumn 572, Issue , 2005, Pages 9-14

  Hanein, Sylvain ^a   Perrault, Isabelle ^a   Gerber, Sylvie ^a   Dollfus, Hélène ^a,b   Dufier, Jean Louis ^f   Feingold, Josué ^a   Munnich, Arnold ^a   Bhattacharya, Shomi ^c,d   Kaplan, Josseline ^a   Sahel, José Alain ^e   Rozet, Jean Michel ^a   Leveillard, Thierry ^e  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d MOORFIELDS EYE HOSPITAL   (United Kingdom)

^e INSERM   (France)

^f Inserm U592 ^*

Author keywords

[No Author keywords available]

Indexed keywords

ALLELES; ANIMALS; CELL SURVIVAL; CONES (RETINA); DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EXONS; GENETIC VARIATION; HUMANS; OPTIC ATROPHY, HEREDITARY, LEBER; RECOMBINANT PROTEINS; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; RETINAL ROD PHOTORECEPTOR CELLS; RODS (RETINA); SEQUENCE ANALYSIS, DNA; THIOREDOXIN; THIOREDOXINS; VARIATION (GENETICS);

EID: 33747452689     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: None     Document Type: Conference Paper

References (6)

1. Hanein, S., Perrault, I., Gerber, S., Tanguy, G., Barbet, E, Ducroq, D., Calvas, P., Dollfus, H., Hamel, C., Lopponen, T., Munier, F., Santos, L., Shalev, S., Zafeiriou, D., Dufier, J.L., Munnich, A., Rozet, J.M., Kaplan, J., 2004, Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 23(4):306-17.
2. Kaplan, J., Bonneau, D., Frezal, J., Munnich, A., Dufier, J.L., 1990, Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet 86:635-42.
3. Katsanis, N., Eichers, E.R., Ansley, S.J., Lewis, R.A., Kayserili, H., Hoskins, B.E., Scambler, P.J., Beales, P.L., Lupski, J.R., 2002. BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in trial-lelic inheritance. Am J Hum Genet 71(1):22-9.
4. Leveillard, T., Mohand-Said, S., Lorentz, O., Hicks, D., Fintz, A.C., Clerin, E., Simonutti, M., Forster, V., Cavusoglu, N., Chalmel, F., Dolle, P., Poch, O., Lambrou, G., Sahel, J.A., 2004, Identification and characterization of rod-derived cone viability factor. Nat Genet 36(7):755-9.
5. Mohand-Said, S., Deudon-Combe, A., Hicks, D., Simonutti, M., Forster, V, Fintz, A.C., Leveillard, T., Dreyfus, H., Sahel, J.A., 1998, Normal retina releases a diffusible factor stimulating cone survival in the retinal degeneration mouse. Proc Natl Acad Sci U S A 7;95(14):8357-62.
6. Allikmets, R.L., Zernant, J., Perrault, I., den Hollander, A., Dharmaraj, S., F.P., Cremers, M., Kaplan, J., Koenekoop, R.K., Maumenee, I., 2004, Multiallelic inheritance and/or modifier alleles in leber congenital amaurosis: analysis with the lea disease chip, ARVO Meeting (2444/B79).