{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T19:35:04Z","timestamp":1791228904888,"version":"4.1.0"},"reference-count":42,"publisher":"Spandidos Publications","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,9]]},"DOI":"10.3892\/ijmm.2012.1039","type":"journal-article","created":{"date-parts":[[2012,6,20]],"date-time":"2012-06-20T04:26:30Z","timestamp":1340166390000},"page":"521-526","source":"Crossref","is-referenced-by-count":13,"title":["Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness"],"prefix":"10.3892","volume":"30","author":[{"given":"QIN","family":"WANG","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"YANG","family":"GAO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SHIQIANG","family":"LI","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XIANGMING","family":"GUO","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"QINGJIONG","family":"ZHANG","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2249","published-online":{"date-parts":[[2012,6,20]]},"reference":[{"key":"key20180107233727_b1-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1586\/17469899.2.3.467","article-title":"Molecular genetics and protein function involved in nocturnal vision","volume":"2","author":"Zeitz","year":"2007","journal-title":"Expert Rev Ophthalmol"},{"key":"key20180107233727_b2-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1001\/archopht.1986.01050190071042","article-title":"Congenital stationary night blindness with negative electroretinogram. A new classification","volume":"104","author":"Miyake","year":"1986","journal-title":"Arch Ophthalmol"},{"key":"key20180107233727_b3-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1038\/367639a0","article-title":"Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness","volume":"367","author":"Rao","year":"1994","journal-title":"Nature"},{"key":"key20180107233727_b4-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"4884","DOI":"10.1073\/pnas.0501233102","article-title":"Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6","volume":"102","author":"Dryja","year":"2005","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20180107233727_b5-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<75::AID-HUMU9>3.0.CO;2-4","article-title":"A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness","volume":"13","author":"al-Jandal","year":"1999","journal-title":"Hum Mutat"},{"key":"key20180107233727_b6-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1038\/ng0796-358","article-title":"Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness","volume":"13","author":"Dryja","year":"1996","journal-title":"Nat Genet"},{"key":"key20180107233727_b7-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/ng0894-551c","article-title":"Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness","volume":"7","author":"Gal","year":"1994","journal-title":"Nat Genet"},{"key":"key20180107233727_b8-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"4328","DOI":"10.1167\/iovs.05-0526","article-title":"Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram","volume":"46","author":"Zeitz","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"key20180107233727_b9-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1016\/j.ajhg.2009.10.013","article-title":"TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness","volume":"85","author":"Audo","year":"2009","journal-title":"Am J Hum Genet"},{"key":"key20180107233727_b10-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.ajhg.2009.10.003","article-title":"Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans","volume":"85","author":"Li","year":"2009","journal-title":"Am J Hum Genet"},{"key":"key20180107233727_b11-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/j.ajhg.2009.10.012","article-title":"Mutations in TRPM1 are a common cause of complete congenital stationary night blindness","volume":"85","author":"van Genderen","year":"2009","journal-title":"Am J Hum Genet"},{"key":"key20180107233727_b12-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"523","DOI":"10.1016\/j.ajhg.2010.08.013","article-title":"A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness","volume":"87","author":"Riazuddin","year":"2010","journal-title":"Am J Hum Genet"},{"key":"key20180107233727_b13-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1086\/508067","article-title":"Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness","volume":"79","author":"Zeitz","year":"2006","journal-title":"Am J Hum Genet"},{"key":"key20180107233727_b14-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"3523","DOI":"10.1167\/iovs.06-0271","article-title":"Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation","volume":"47","author":"Wycisk","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"key20180107233727_b15-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1086\/508944","article-title":"Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy","volume":"79","author":"Wycisk","year":"2006","journal-title":"Am J Hum Genet"},{"key":"key20180107233727_b16-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1038\/ng0297-175","article-title":"Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness","volume":"15","author":"Yamamoto","year":"1997","journal-title":"Nat Genet"},{"key":"key20180107233727_b17-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1038\/ng0795-360","article-title":"A homozygous 1-base pair deletion in the arrestin gene is a frequent cause of Oguchi disease in Japanese","volume":"10","author":"Fuchs","year":"1995","journal-title":"Nat Genet"},{"key":"key20180107233727_b18-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1016\/j.ophtha.2003.11.006","article-title":"Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi\u2019s disease","volume":"111","author":"Nakamura","year":"2004","journal-title":"Ophthalmology"},{"issue":"Suppl 1","key":"key20180107233727_b19-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"S317","DOI":"10.1002\/humu.1380110199","article-title":"Two Indian siblings with Oguchi disease are homozygous for an arrestin mutation encoding premature termination","author":"Maw","year":"1998","journal-title":"Hum Mutat"},{"key":"key20180107233727_b20-ijmm-30-03-0521","first-page":"977","article-title":"A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene","volume":"11","author":"Zhang","year":"2005","journal-title":"Mol Vis"},{"key":"key20180107233727_b21-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1038\/81627","article-title":"The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein","volume":"26","author":"Pusch","year":"2000","journal-title":"Nat Genet"},{"key":"key20180107233727_b22-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1038\/947","article-title":"Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness","volume":"19","author":"Bech-Hansen","year":"1998","journal-title":"Nat Genet"},{"key":"key20180107233727_b23-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1038\/940","article-title":"An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness","volume":"19","author":"Strom","year":"1998","journal-title":"Nat Genet"},{"key":"key20180107233727_b24-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1002\/humu.9106","article-title":"Mutations in the CACNA1F and NYX genes in British CSNBX families","volume":"21","author":"Zito","year":"2003","journal-title":"Hum Mutat"},{"key":"key20180107233727_b25-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/s004390100461","article-title":"A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants","volume":"108","author":"Boycott","year":"2001","journal-title":"Hum Genet"},{"key":"key20180107233727_b26-ijmm-30-03-0521","first-page":"179","article-title":"Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness","volume":"11","author":"Zeitz","year":"2005","journal-title":"Mol Vis"},{"key":"key20180107233727_b27-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"634","DOI":"10.1007\/s10038-006-0406-5","article-title":"CSNB1 in Chinese families associated with novel mutations in NYX","volume":"51","author":"Xiao","year":"2006","journal-title":"J Hum Genet"},{"key":"key20180107233727_b28-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1523\/JNEUROSCI.3054-04.2005","article-title":"Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels","volume":"25","author":"Hoda","year":"2005","journal-title":"J Neurosci"},{"key":"key20180107233727_b29-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1002\/bies.200900198","article-title":"TRPM1: the endpoint of the mGluR6 signal transduction cascade in retinal ON-bipolar cells","volume":"32","author":"Morgans","year":"2010","journal-title":"Bioessays"},{"key":"key20180107233727_b30-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1038\/81619","article-title":"Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness","volume":"26","author":"Bech-Hansen","year":"2000","journal-title":"Nat Genet"},{"key":"key20180107233727_b31-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1111\/j.1460-9568.2006.04647.x","article-title":"Localization of nyctalopin in the mammalian retina","volume":"23","author":"Morgans","year":"2006","journal-title":"Eur J Neurosci"},{"key":"key20180107233727_b32-ijmm-30-03-0521","article-title":"Nyctalopin Interacts with Transient Receptor Potential Channels in Yeast","author":"Bojang","year":"2009"},{"key":"key20180107233727_b33-ijmm-30-03-0521","first-page":"425","article-title":"TRPM1 mutations are associated with the complete form of congenital stationary night blindness","volume":"16","author":"Nakamura","year":"2010","journal-title":"Mol Vis"},{"key":"key20180107233727_b34-ijmm-30-03-0521","first-page":"303","article-title":"Mitochondrial DNA haplogroup distribution in Chaoshanese with and without myopia","volume":"16","author":"Wang","year":"2010","journal-title":"Mol Vis"},{"key":"key20180107233727_b35-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"3093","DOI":"10.1093\/jxb\/err029","article-title":"Critical assessment of assembly strategies for non-model species mRNA-Seq data and application of next-generation sequencing to the comparison of C3 and C4 species","volume":"62","author":"Brautigam","year":"2011","journal-title":"J Exp Bot"},{"key":"key20180107233727_b36-ijmm-30-03-0521","first-page":"2094","article-title":"Sequence variations of GRM6 in patients with high myopia","volume":"15","author":"Xu","year":"2009","journal-title":"Mol Vis"},{"key":"key20180107233727_b37-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"2660","DOI":"10.1073\/pnas.052708599","article-title":"Structural views of the ligand-binding cores of a metabotropic glutamate receptor complexed with an antagonist and both glutamate and Gd3+","volume":"99","author":"Tsuchiya","year":"2002","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20180107233727_b38-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1038\/35039564","article-title":"Structural basis of glutamate recognition by a dimeric metabotropic glutamate receptor","volume":"407","author":"Kunishima","year":"2000","journal-title":"Nature"},{"key":"key20180107233727_b39-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"332","DOI":"10.1073\/pnas.0912730107","article-title":"TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade","volume":"107","author":"Koike","year":"2010","journal-title":"Proc Natl Acad Sci USA"},{"key":"key20180107233727_b40-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/humu.20499","article-title":"Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking","volume":"28","author":"Zeitz","year":"2007","journal-title":"Hum Mutat"},{"key":"key20180107233727_b41-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"24653","DOI":"10.1074\/jbc.M602277200","article-title":"Coupling of agonist binding to effector domain activation in metabotropic glutamate-like receptors","volume":"281","author":"Rondard","year":"2006","journal-title":"J Biol Chem"},{"key":"key20180107233727_b42-ijmm-30-03-0521","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.neuroscience.2007.09.021","article-title":"Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W","volume":"150","author":"Peloquin","year":"2007","journal-title":"Neuroscience"}],"container-title":["International Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/spandidos-publications.com\/10.3892\/ijmm.2012.1039\/download","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,1,7]],"date-time":"2018-01-07T19:10:17Z","timestamp":1515352217000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.spandidos-publications.com\/10.3892\/ijmm.2012.1039"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,6,20]]},"references-count":42,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2012,6,20]]},"published-print":{"date-parts":[[2012,9]]}},"alternative-id":["10.3892\/ijmm.2012.1039"],"URL":"https:\/\/doi.org\/10.3892\/ijmm.2012.1039","relation":{},"ISSN":["1107-3756","1791-244X"],"issn-type":[{"value":"1107-3756","type":"print"},{"value":"1791-244X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,6,20]]}}}