{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T03:31:22Z","timestamp":1792812682475,"version":"4.5.0"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1996,7,1]],"date-time":"1996-07-01T00:00:00Z","timestamp":836179200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[1996,7]]},"DOI":"10.1038\/ng0796-358","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T20:19:18Z","timestamp":1092860358000},"page":"358-360","source":"Crossref","is-referenced-by-count":155,"title":["Missense mutation in the gene encoding the \u03b1 subunit of rod transducin in the Nougaret form of congenital stationary night blindness"],"prefix":"10.1038","volume":"13","author":[{"given":"Thaddeus P.","family":"Dryja","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauri B.","family":"Hahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Reboul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernard","family":"Arnaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0796358_CR1","first-page":"32","volume":"1","author":"F Cunier","year":"1838","unstructured":"Cunier, F. H\u00e9m\u00e9ralopie h\u00e9r\u00e9ditaire depuis deux si\u00e9cles dans une f ami lie de la commune de Vend\u00e9mian, \u00e0 cinq lieues de Montpellier. Annal. d'Ocul. 1, 32\u201334 (1838).","journal-title":"Annal. d'Ocul."},{"key":"BFng0796358_CR2","first-page":"383","volume":"4","author":"F Cunier","year":"1838","unstructured":"Cunier, F. Histoire d'une h\u00e9m\u00e9ralopie h\u00e9r\u00e9ditare depuis deux si\u00e8cles dans une famille de la commune de Vend\u00e9mian, pr\u00e8s Montpellier. Ann. Soc. M\u00e9d. Gand. 4, 383\u2013395 (1838).","journal-title":"Ann. Soc. M\u00e9d. Gand."},{"key":"BFng0796358_CR3","first-page":"269","volume":"27","author":"E Nettleship","year":"1907","unstructured":"Nettleship, E. A history of congenital stationary night-blindness in nine consecutive generations. Trans. Ophthalmol. Soc. UK. 27, 269\u2013293 (1907).","journal-title":"Trans. Ophthalmol. Soc. UK."},{"key":"BFng0796358_CR4","first-page":"285","volume":"26","author":"H True","year":"1909","unstructured":"True, H. G\u00e9n\u00e9alogie d'une famille h\u00e9m\u00e9ralope depuis pr\u00e9s de trois si\u00e8cles, 270 ans, 10 g\u00e9n\u00e9rations, 2121 membres, 135 h\u00e9m\u00e9ralopes. Bull. Soc. Ophtalmol. Fr. 26, 285\u2013292 (1909).","journal-title":"Bull. Soc. Ophtalmol. Fr."},{"key":"BFng0796358_CR5","first-page":"96","volume":"1","author":"C Dejean","year":"1949","unstructured":"Dejean, C. & Gassenc, R. Note sur la genealogie de la famille Nougaret, de Vend\u00e9mian. Bull. Soc. Ophtalmol. Fr. 1, 96\u201399 (1949).","journal-title":"Bull. Soc. Ophtalmol. Fr."},{"key":"BFng0796358_CR6","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1159\/000302932","volume":"132","author":"J Fran\u00e7ois","year":"1956","unstructured":"Fran\u00e7ois, J., Verriest, G., de Rouck, A., & Dejean, C. Les fonctions visuelles dans I'hemeralopie essentielle nougarienne. Ophthalmologica. 132, 244\u2013257 (1956).","journal-title":"Ophthalmologica."},{"key":"BFng0796358_CR7","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1038\/ng0793-280","volume":"4","author":"TP Dryja","year":"1993","unstructured":"Dryja, T.P., Berson, E.L., Rao, V.R. & Oprian, D.D. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nature Genet. 4, 280\u2013283 (1993).","journal-title":"Nature Genet."},{"key":"BFng0796358_CR8","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1073\/pnas.92.3.880","volume":"92","author":"PA Sieving","year":"1995","unstructured":"Sieving, P.A., Richards, J.E., Naarendorp, F., Bingham, E.L., Scott, K. & Alpern, M., Model for nightblindness from the human rhodopsin Gly-90\u2192Asp mutation. Proc. Nail. Acad. Sci. USA 92, 880\u2013884 (1995).","journal-title":"Proc. Nail. Acad. Sci. USA"},{"key":"BFng0796358_CR9","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/ng0594-64","volume":"7","author":"A Gal","year":"1994","unstructured":"Gal, A., Orth, U., Baehr, W., Schwinger, E. & Rosenberg, T. Heterozygous missense mutation in the rod cGMP phosphodiesterase \u03b2-subunit gene in autosomal dominant stationary night blindness. Nature Genet. 7, 64\u201368 (1994).","journal-title":"Nature Genet."},{"key":"BFng0796358_CR10","doi-asserted-by":"publisher","first-page":"2766","DOI":"10.1073\/pnas.86.8.2766","volume":"86","author":"M Orita","year":"1989","unstructured":"Orita, M., Iwahana, H., Kanazawa, H., Hayashi, K. & Sekiya, T. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. USA 86, 2766\u20132770 (1989).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng0796358_CR11","doi-asserted-by":"publisher","first-page":"9370","DOI":"10.1073\/pnas.88.20.9370","volume":"88","author":"TP Dryja","year":"1991","unstructured":"Dryja, T.P., Hahn, L.B., Cowley, G.S., McGee, T.L. & Berson, E.L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc. Natl. Acad. Sci. USA 88, 9370\u20139374 (1991).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng0796358_CR12","doi-asserted-by":"crossref","unstructured":"Khani, S.C. et al. Characterization and chromosomal localization of the gene for human rhodopsin kinase. Genomics (in the press).","DOI":"10.1006\/geno.1996.0399"},{"key":"BFng0796358_CR13","doi-asserted-by":"publisher","first-page":"2865","DOI":"10.1093\/nar\/20.11.2865","volume":"20","author":"SL Fong","year":"1992","unstructured":"Fong, S.L. Characterization of the human rod transducin alpha-subunit gene. Nucl. Acids Res. 20, 2865\u20132870 (1992).","journal-title":"Nucl. Acids Res."},{"key":"BFng0796358_CR14","doi-asserted-by":"crossref","first-page":"20757","DOI":"10.1016\/S0021-9258(17)45280-X","volume":"265","author":"K Yamaki","year":"1990","unstructured":"Yamaki, K., Tsuda, M., Kikuchi, T., Chen, K.H., Huang, K.P. & Shinohara, T. Structural organization of the human S-antigen gene. J. Biol. Chem. 265, 20757\u201320762 (1990).","journal-title":"J. Biol. Chem."},{"key":"BFng0796358_CR15","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1038\/ng1295-468","volume":"11","author":"SH Huang","year":"1995","unstructured":"Huang, S.H., Pittler, S.J., Huang, X., Oliveira, L., Berson, E.L. & Dryja, T.P. Autosomal recessive retinitis pigmentosa caused by mutations in the a subunit of rod cGMP phosphodiesterase. Nature Genet. 11, 468\u2013471 (1995).","journal-title":"Nature Genet."},{"key":"BFng0796358_CR16","doi-asserted-by":"publisher","first-page":"3249","DOI":"10.1073\/pnas.92.8.3249","volume":"92","author":"ME McLaughlin","year":"1995","unstructured":"McLaughlin, M.E., Ehrhart, T.L., Berson, E.L. & Dryja, T.R. Mutation spectrum of the gene encoding the 13 subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA. 92, 3249\u20133253 (1995).","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"BFng0796358_CR17","first-page":"1077","volume":"35","author":"LB Hahn","year":"1994","unstructured":"Hahn, L.B., Berson, E.L. & Dryja, T.R. Evaluation of the gene encoding the gamma subunit of rod phosphodiesterase in retinitis pigmentosa. Invest. Ophthal. Vis. Sci. 35, 1077\u20131082 (1994).","journal-title":"Invest. Ophthal. Vis. Sci."},{"key":"BFng0796358_CR18","doi-asserted-by":"publisher","first-page":"234","DOI":"10.1016\/S0006-291X(05)81483-4","volume":"187","author":"A Murakami","year":"1992","unstructured":"Murakami, A., Yajima, T. & Inana, G. Isolation of human retinal genes: recoverin cDNA and gene. Biochem. Biophys. Res. Comm. 187, 234\u2013244 (1992).","journal-title":"Biochem. Biophys. Res. Comm."},{"key":"BFng0796358_CR19","doi-asserted-by":"crossref","first-page":"31080","DOI":"10.1016\/S0021-9258(18)47393-0","volume":"269","author":"I Subbaraya","year":"1994","unstructured":"Subbaraya, I. et al. Molecular characterization of human and mouse photoreceptor guanylate cyclase activating protein (GCAP) and chromosomal localization of the human gene. J. Biol. Chem. 269, 31080\u201331089 (1994).","journal-title":"J. Biol. Chem."},{"key":"BFng0796358_CR20","doi-asserted-by":"publisher","first-page":"10177","DOI":"10.1073\/pnas.92.22.10177","volume":"92","author":"TP Dryja","year":"1995","unstructured":"Dryja, T.P., Finn, J.T., Peng, Y.-W., McGee, T.L., Berson, E.L. & Yau, K.-W. Mutations in the gene encoding the a subunit of rod cGMP-gated channel in autosomal recessive retinitis pigmentosa. Proc. Natl. Acad. Sci. USA. 92, 10177\u201310181 (1995).","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"BFng0796358_CR21","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1093\/hmg\/2.4.385","volume":"2","author":"RA Bascom","year":"1993","unstructured":"Bascom, R.A., Schappert, K. & Mclnnes, R.R. Cloning of the human and murine ROM1 genes: genomic organization and sequence conservation. Hum. Mol. Genet. 2, 385\u2013391 (1993).","journal-title":"Hum. Mol. Genet."},{"key":"BFng0796358_CR22","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1159\/000301211","volume":"123","author":"G Schubert","year":"1952","unstructured":"Schubert, G. & Bornschein, H. Beitrag zur Analyse des menschlichen Elektroretinogramms. Ophthalmologica. 123, 396\u2013413 (1952).","journal-title":"Ophthalmologica."},{"key":"BFng0796358_CR23","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1001\/archopht.1954.00920050731007","volume":"52","author":"JC Armington","year":"1954","unstructured":"Armington, J.C. & Schwab, G.J. Electroretinogram in nyctalopia. Arch. Ophthalmol. 52, 725\u2013733 (1954).","journal-title":"Arch. Ophthalmol."},{"key":"BFng0796358_CR24","doi-asserted-by":"publisher","first-page":"174","DOI":"10.1001\/archopht.1957.00940010186003","volume":"58","author":"G Goodman","year":"1957","unstructured":"Goodman, G. & Bornschein, H. Comparative electroretinographic studies in congenital night blindness and total color blindness. Arch. Ophthalmol. 58, 174\u2013182 (1957).","journal-title":"Arch. Ophthalmol."},{"key":"BFng0796358_CR25","first-page":"497","volume":"5","author":"RE Carr","year":"1966","unstructured":"Carr, R.E., Ripps, H., Siegel, I.M. & Weale, R.A. Rhodopsin and the electrical activity of the retina in congenital night blindness. Invest. Ophthal. Vis. Sci. 5, 497\u2013507 (1966).","journal-title":"Invest. Ophthal. Vis. Sci."},{"key":"BFng0796358_CR26","doi-asserted-by":"crossref","first-page":"15475","DOI":"10.1016\/S0021-9258(19)84854-8","volume":"264","author":"MR Graziano","year":"1989","unstructured":"Graziano, M.R. & Gilman, A.G. Synthesis in Escherichia coli of GTPase-deficient mutants of Gsa. J. Biol. Chem. 264, 15475\u201315482 (1989).","journal-title":"J. Biol. Chem."},{"key":"BFng0796358_CR27","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1038\/300143a0","volume":"300","author":"CJ Tabin","year":"1982","unstructured":"Tabin, C.J. et al. Mechanism of activation of a human oncogene. Nature 300, 143\u2013149 (1982).","journal-title":"Nature"},{"key":"BFng0796358_CR28","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1038\/300149a0","volume":"300","author":"EP Reddy","year":"1982","unstructured":"Reddy, E.P., Reynolds, R.K., Santos, E. & Barbacid, M. A point mutation is responsible for the acquisition of transforming properties by the T24 human bladder carcinoma oncogene. Nature 300, 149\u2013152 (1982).","journal-title":"Nature"},{"key":"BFng0796358_CR29","doi-asserted-by":"publisher","first-page":"4679","DOI":"10.1073\/pnas.80.15.4679","volume":"80","author":"E Santos","year":"1983","unstructured":"Santos, E., Reddy, E.P., Pulciani, S., Feldmann, R.J. & Barbacid, M. Spontaneous activation of a human proto-oncogene. Proc. Natl. Acad. Sci. USA. 80, 4679\u20134683 (1983).","journal-title":"Proc. Natl. Acad. Sci. USA."},{"key":"BFng0796358_CR30","doi-asserted-by":"publisher","first-page":"71","DOI":"10.1038\/312071a0","volume":"312","author":"PH seeburg","year":"1984","unstructured":"seeburg, P.H., Colby, W.W., Capon, D.J., Goeddel, D.V.,& Levinson, A.D. Biological properties of human c-Ha-ras1 genes mutated at codon 12. Nature 312, 71\u201375 (1984).","journal-title":"Nature"},{"key":"BFng0796358_CR31","doi-asserted-by":"publisher","first-page":"1809","DOI":"10.1128\/MCB.5.8.1809","volume":"5","author":"RG Chipperfield","year":"1985","unstructured":"Chipperfield, R.G., Jones, S.S., Lo, K.-M. & Weinberg, R.A. Activation of Ha-ras p21 by substitution, deletion, and insertion mutations. Mol. Cell. Biol. 5, 1809\u20131813 (1985).","journal-title":"Mol. Cell. Biol."},{"key":"BFng0796358_CR32","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1038\/369621a0","volume":"369","author":"DG Lambright","year":"1994","unstructured":"Lambright, D.G., Noel, J.P., Hamm, H.E. & Sigler, P.B. Structural determinants for activation of the \u03b1-subunit of a heterotrimeric G protein. Nature 369, 621\u2013628 (1994).","journal-title":"Nature"},{"key":"BFng0796358_CR33","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1038\/337090a0","volume":"337","author":"L Tong","year":"1989","unstructured":"Tong, L. et al. Structural differences between a ras oncogene protein and the normal protein. Nature 337, 90\u201393 (1989).","journal-title":"Nature"},{"key":"BFng0796358_CR34","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1038\/313700a0","volume":"313","author":"GL Temeles","year":"1985","unstructured":"Temeles, G.L., Gibbs, J.B., D'Alonzo, J.S., Sigal, I.S. & Scolnick, E.M. Yeast and mammalian ras proteins have conserved biochemical properties. Nature 313, 700\u2013703 (1985).","journal-title":"Nature"},{"key":"BFng0796358_CR35","doi-asserted-by":"crossref","first-page":"15467","DOI":"10.1016\/S0021-9258(19)84853-6","volume":"264","author":"SB Masters","year":"1989","unstructured":"Masters, S.B. et al. Mutations in the GTP-binding site of Gs\u03b1 alter stimulation of adenylyl cyclase. J. Biol. Chem. 264, 15467\u201315474 (1989).","journal-title":"J. Biol. Chem."},{"key":"BFng0796358_CR36","doi-asserted-by":"crossref","first-page":"1212","DOI":"10.1016\/S0021-9258(18)48416-5","volume":"267","author":"E Lee","year":"1992","unstructured":"Lee, E., Taussig, R. & Gilman, A.G. The G226A mutant of Gs\u03b1 highlights the requirement for dissociation of G protein subunits. J. Biol. Chem. 267, 1212\u20131218 (1992).","journal-title":"J. Biol. Chem."},{"key":"BFng0796358_CR37","first-page":"2932","volume":"35","author":"CJ Raport","year":"1994","unstructured":"Raport, C.J. et al. Downregulation of cGMP phosphodiesterase induced by expression of GTPase-deficient cone transducin in mouse rod photoreceptors. Invest. Ophthal. Vis. Sci. 35, 2932\u20132947 (1994).","journal-title":"Invest. Ophthal. Vis. Sci."},{"key":"BFng0796358_CR38","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1016\/0896-6273(94)90052-3","volume":"13","author":"Y-J Lee","year":"1994","unstructured":"Lee, Y.-J., Shah, S., Suzuki, E., Zars, T., O'Day, P.M. & Hyde, D.R., Drosophila dgq gene encodes a Ga protein that mediates phototransduction. Neuron. 13, 1143\u20131157 (1994).","journal-title":"Neuron."},{"key":"BFng0796358_CR39","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1038\/376080a0","volume":"376","author":"L Ruiz-Avila","year":"1995","unstructured":"Ruiz-Avila, L. et al. Coupling of bitter receptor to phosphodiesterase through transducin in taste receptor cells. Nature 376, 80\u201385 (1995).","journal-title":"Nature"},{"key":"BFng0796358_CR40","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1038\/376085a0","volume":"376","author":"SS Kolesnikov","year":"1995","unstructured":"Kolesnikov, S.S. & Margolskee, R.F. A cyclic-nucleotide-suppressible conductance activated by transducin in taste cells. Nature 376, 85\u201388 (1995).","journal-title":"Nature"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0796-358","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0796-358.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0796-358.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:48:41Z","timestamp":1684442921000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0796-358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,7]]},"references-count":40,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1996,7]]}},"alternative-id":["BFng0796358"],"URL":"https:\/\/doi.org\/10.1038\/ng0796-358","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,7]]}}}