{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T05:57:26Z","timestamp":1789538246446,"version":"build-2803163510"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[1995,7,1]],"date-time":"1995-07-01T00:00:00Z","timestamp":804556800000},"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":[[1995,7]]},"DOI":"10.1038\/ng0795-360","type":"journal-article","created":{"date-parts":[[2004,8,18]],"date-time":"2004-08-18T19:59:31Z","timestamp":1092859171000},"page":"360-362","source":"Crossref","is-referenced-by-count":227,"title":["A homozygous 1\u2013base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese"],"prefix":"10.1038","volume":"10","author":[{"given":"Sigrid","family":"Fuchs","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitsuru","family":"Nakazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Maw","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Tamai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshihisa","family":"Oguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Gal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"BFng0795360_CR1","first-page":"123","volume":"11","author":"C Oguchi","year":"1907","unstructured":"Oguchi, C. \u00dcber eine Abart von Hemeralopie. Acta Soc. Ophthalmol. Jpn. 11, 123\u2013134 (1907).","journal-title":"Acta Soc. Ophthalmol. Jpn."},{"key":"BFng0795360_CR2","doi-asserted-by":"publisher","first-page":"646","DOI":"10.1001\/archopht.1965.00970030648010","volume":"73","author":"RE Carr","year":"1965","unstructured":"Carr, R.E. & Gouras, P. Oguchi disease. Arch. Ophthalmol. 73, 646\u2013656 (1965).","journal-title":"Arch. Ophthalmol."},{"key":"BFng0795360_CR3","first-page":"426","volume":"6","author":"RE Carr","year":"1991","unstructured":"Carr, R.E. & Ripps, H. Rhodopsin kinetics and rod adaptation in Oguchi disease. Invest. Ophthalmol. 6, 426\u2013436 (1991).","journal-title":"Invest. Ophthalmol."},{"key":"BFng0795360_CR4","first-page":"1148","volume":"17","author":"G Mizuo","year":"1913","unstructured":"Mizuo, G. A new discovery in dark adaptation in Oguchi disease. Acta Soc. Ophthalmol. Jpn. 17, 1148\u20131150 (1913).","journal-title":"Acta Soc. Ophthalmol. Jpn."},{"key":"BFng0795360_CR5","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1136\/jmg.32.5.396","volume":"32","author":"MA Maw","year":"1995","unstructured":"Maw, M.A. et al. Oguchi disease: suggestion of linkage to markers on chromosome 2q. J. med. Genet. 32, 396\u2013398 (1995).","journal-title":"J. med. Genet."},{"key":"BFng0795360_CR6","doi-asserted-by":"publisher","first-page":"173","DOI":"10.1006\/geno.1993.1155","volume":"16","author":"J Lu-Kuo","year":"1993","unstructured":"Lu-Kuo, J., Ward, D.C. & Spritz, R.A. Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome type I (WS1) locus (PAX3 gene). Genomics 16, 173\u2013179 (1993).","journal-title":"Genomics"},{"key":"BFng0795360_CR7","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1007\/BF00202869","volume":"94","author":"D Valverde","year":"1994","unstructured":"Valverde, D. et al. Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum. Genet. 94, 193\u2013194 (1994).","journal-title":"Hum. Genet."},{"key":"BFng0795360_CR8","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1016\/0014-5793(84)81221-1","volume":"176","author":"H K\u00fchn","year":"1984","unstructured":"K\u00fchn, H., Hall, S.W. & Wilden, U. Light induced binding of 48-kDa protein to photoreceptor membranes is highly enhanced by phosphorylation of rhodopsin. FEBS Lett. 176, 473\u2013478 (1984).","journal-title":"FEBS Lett."},{"key":"BFng0795360_CR9","doi-asserted-by":"publisher","first-page":"1174","DOI":"10.1073\/pnas.83.5.1174","volume":"83","author":"U Wilden","year":"1986","unstructured":"Wilden, U., Hall, S.W. & K\u00fchn, H. Phoshodiesterase activation by photoexcited rhodopsin is quenched when rhodopsin is phosphorylated and binds the intrinsic 48-kDa protein of rod outer segments. Proc. natn. Acad. Sci. U.S.A. 83, 1174\u20131178 (1986).","journal-title":"Proc. natn. Acad. Sci. U.S.A."},{"key":"BFng0795360_CR10","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1016\/0896-6273(92)90113-R","volume":"8","author":"K Palczewski","year":"1992","unstructured":"Palczewski, K., Rispoli, G. & Detwiler, P.B. The influence of arrestin (48K protein) and rhodopsin kinase on visual transduction. Neuron 8, 117\u2013126 (1992).","journal-title":"Neuron"},{"key":"BFng0795360_CR11","doi-asserted-by":"crossref","first-page":"15770","DOI":"10.1016\/S0021-9258(18)71543-3","volume":"264","author":"K Palczewski","year":"1989","unstructured":"Palczewski, K., McDowell, J.H., Jakes, S., Ingebritsen, T.S. & Hargrave, P.A. Regulation of rhodopsin dephosphorylation by arrestin. J. biol. Chem. 264, 15770\u201315773 (1989).","journal-title":"J. biol. Chem."},{"key":"BFng0795360_CR12","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/0014-5793(88)81298-5","volume":"234","author":"K Yamaki","year":"1988","unstructured":"Yamaki, K., Tsuda, M. & Shinohara, T. The sequence of human retinal S-antigen reveals similarities with \u03b1-transducin. FEBS Lett. 234, 39\u201343 (1988).","journal-title":"FEBS Lett."},{"key":"BFng0795360_CR13","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":"BFng0795360_CR14","first-page":"567","volume":"50","author":"VC Sheffield","year":"1992","unstructured":"Sheffield, V.C., Beck, J.S., Nichols, B., Lidral, C.E.M. Detection of multiallelic polymorphisms within gene sequences by GC-clamped denaturing gradient gel electrophoresis. Am. J. hum. Genet. 50, 567\u2013575 (1992).","journal-title":"Am. J. hum. Genet."},{"key":"BFng0795360_CR15","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":"BFng0795360_CR16","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":"BFng0795360_CR17","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1038\/ng0692-209","volume":"1","author":"PJ Rosenfeld","year":"1992","unstructured":"Rosenfeld, P.J. et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet. 1, 209\u2013213 (1992).","journal-title":"Nature Genet."},{"key":"BFng0795360_CR18","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1038\/ng0693-130","volume":"4","author":"ME McLaughlin","year":"1993","unstructured":"McLaughlin, M.E., Sand berg, M A., Berson, E.L & Dryja, T.D. Recessive mutations in the gene encoding the \u03b2-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nature Genet. 4, 130\u2013133 (1993).","journal-title":"Nature Genet."},{"key":"BFng0795360_CR19","doi-asserted-by":"publisher","first-page":"1910","DOI":"10.1126\/science.8316831","volume":"260","author":"PJ Dolph","year":"1993","unstructured":"Dolph, P.J., Ranganathan, R., Colley, N.J., Hardy, R.W., Socolich, M. & Zuker, C.S. Arrestin function in inactivation of G protein-coupled receptor rhodopsin in vivo. Science. 260, 1910\u20131916 (1993).","journal-title":"Science."},{"key":"BFng0795360_CR20","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1001\/archopht.1991.01080080064029","volume":"109","author":"RTVM de Jong","year":"1991","unstructured":"de Jong, R.T.V.M., Zrenner, E., van Meel, G.J., Kennen, J.E.E. & van Norren, D. Mizuo phenomenon in X-linked retinoschisis. Arch. Ophthalmol. 109, 1104\u20131108 (1991).","journal-title":"Arch. Ophthalmol."},{"key":"BFng0795360_CR21","doi-asserted-by":"publisher","first-page":"1322","DOI":"10.1001\/archopht.1986.01050210076029","volume":"104","author":"JR Heckenlively","year":"1986","unstructured":"Heckenlively, J.R. & Weleber, R.G. X-linked recessive cone dystrophy with tapetal-like sheen: a newly recognize entity with Mizuo-Nakamura phenomenon. Arch. Ophthalmol. 104, 1322\u20131328 (1986).","journal-title":"Arch. Ophthalmol."},{"key":"BFng0795360_CR22","doi-asserted-by":"publisher","first-page":"874","DOI":"10.1016\/0888-7543(89)90129-8","volume":"5","author":"M Orita","year":"1989","unstructured":"Orita, M., Suzuki, Y., Sekyia, T. & Hayashi, K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 5, 874\u2013879 (1989).","journal-title":"Genomics"},{"key":"BFng0795360_CR23","first-page":"137","volume":"48","author":"B Budowle","year":"1991","unstructured":"Budowle, B., Chakraborty, R., Ginsti, A., Eisenberg, A. & Alien, R. Analysis of the VNTR Locus D1S80 by the PCR followed by high-resolution PAGE. Am. J. hum. Genet. 48, 137\u2013144 (1991).","journal-title":"Am. J. hum. Genet."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng0795-360","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0795-360.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng0795-360.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T20:48:08Z","timestamp":1684442888000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng0795-360"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,7]]},"references-count":23,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1995,7]]}},"alternative-id":["BFng0795360"],"URL":"https:\/\/doi.org\/10.1038\/ng0795-360","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,7]]}}}