{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T08:39:25Z","timestamp":1791275965537,"version":"4.1.0"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2010,8,18]],"date-time":"2010-08-18T00:00:00Z","timestamp":1282089600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2011,1]]},"DOI":"10.1038\/ejhg.2010.140","type":"journal-article","created":{"date-parts":[[2010,8,18]],"date-time":"2010-08-18T11:43:40Z","timestamp":1282131820000},"page":"30-35","source":"Crossref","is-referenced-by-count":31,"title":["Alternative splice variants of the USH3A gene Clarin 1 (CLRN1)"],"prefix":"10.1038","volume":"19","author":[{"given":"Hanna","family":"V\u00e4stinsalo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reetta","family":"Jalkanen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Astra","family":"Dinculescu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juha","family":"Isosomppi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott","family":"Geller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G","family":"Flannery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William W","family":"Hauswirth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eeva-Marja","family":"Sankila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,8,18]]},"reference":[{"key":"BFejhg2010140_CR1","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1007\/s00417-002-0485-8","volume":"240","author":"UH Spandau","year":"2002","unstructured":"Spandau UH, Rohrschneider K : Prevalence and geographical distribution of Usher syndrome in Germany. Graefes Arch Clin Exp Ophthalmol 2002; 240: 495\u2013498.","journal-title":"Graefes Arch Clin Exp Ophthalmol"},{"key":"BFejhg2010140_CR2","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1097\/WCO.0b013e3283218807","volume":"22","author":"Z Saihan","year":"2009","unstructured":"Saihan Z, Webster AR, Luxon L, Bitner-Glindzicz M : Update on Usher syndrome. Curr Opin Neurol 2009; 22: 19\u201327.","journal-title":"Curr Opin Neurol"},{"key":"BFejhg2010140_CR3","doi-asserted-by":"publisher","first-page":"307","DOI":"10.1007\/BF00130927","volume":"19","author":"L Pakarinen","year":"1995","unstructured":"Pakarinen L, Tuppurainen K, Laippala P, M\u00e4ntyj\u00e4rvi M, Puhakka H : The ophthalmological course of Usher syndrome type III. Int Ophthalmol 1995; 19: 307\u2013311.","journal-title":"Int Ophthalmol"},{"key":"BFejhg2010140_CR4","doi-asserted-by":"publisher","first-page":"767","DOI":"10.1136\/jmg.40.10.767","volume":"40","author":"SL Ness","year":"2003","unstructured":"Ness SL, Ben-Yosef T, Bar-Lev A et al: Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. J Med Genet 2003; 40: 767\u2013772.","journal-title":"J Med Genet"},{"key":"BFejhg2010140_CR5","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1080\/14992020600975279","volume":"46","author":"M Cohen","year":"2007","unstructured":"Cohen M, Bitner-Glindzicz M, Luxon L : The changing face of Usher syndrome: clinical implications. Int J Audiol 2007; 46: 82\u201393.","journal-title":"Int J Audiol"},{"key":"BFejhg2010140_CR6","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1086\/323610","volume":"69","author":"T Joensuu","year":"2001","unstructured":"Joensuu T, H\u00e4m\u00e4l\u00e4inen R, Yuan B et al: Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet 2001; 69: 673\u2013684.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2010140_CR7","doi-asserted-by":"publisher","first-page":"339","DOI":"10.1038\/sj.ejhg.5200831","volume":"10","author":"A Adato","year":"2002","unstructured":"Adato A, Vreugde S, Joensuu T et al: USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. Eur J Hum Genet 2002; 10: 339\u2013350.","journal-title":"Eur J Hum Genet"},{"key":"BFejhg2010140_CR8","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1086\/342098","volume":"71","author":"RR Fields","year":"2002","unstructured":"Fields RR, Zhou G, Huang D et al: Usher Syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. Am J Hum Genet 2002; 71: 607\u2013617.","journal-title":"Am J Hum Genet"},{"key":"BFejhg2010140_CR9","first-page":"1806","volume":"15","author":"J Isosomppi","year":"2009","unstructured":"Isosomppi J, V\u00e4stinsalo H, Geller S et al: Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane. Mol Vis 2009; 15: 1806\u20131818.","journal-title":"Mol Vis"},{"key":"BFejhg2010140_CR10","doi-asserted-by":"publisher","first-page":"e1000607","DOI":"10.1371\/journal.pgen.1000607","volume":"5","author":"SF Geller","year":"2009","unstructured":"Geller SF, Guerin KI, Visel M et al: CLRN1 is nonessential in the mouse retina but is required for cochlear hair cell development. PLoS Genet 2009; 5: e1000607.","journal-title":"PLoS Genet"},{"key":"BFejhg2010140_CR11","doi-asserted-by":"publisher","first-page":"18980","DOI":"10.1074\/jbc.M109.003160","volume":"284","author":"G Tian","year":"2009","unstructured":"Tian G, Zhou Y, Hajkova D et al: Clarin-1, encoded by the Usher syndrome III causative gene, forms a membranous microdomain: possible role of Clarin-1 in organizing the actin cytoskeleton. J Biol Chem 2009; 284: 18980\u201318993.","journal-title":"J Biol Chem"},{"key":"BFejhg2010140_CR12","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1016\/j.heares.2009.06.006","volume":"255","author":"M Zallocchi","year":"2009","unstructured":"Zallocchi M, Meehan DT, Delimont D et al: Localization and expression of clarin-1, the Clrn1 gene product, in auditory hair cells and photoreceptors. Hear Res 2009; 255: 109\u2013120.","journal-title":"Hear Res"},{"key":"BFejhg2010140_CR13","doi-asserted-by":"publisher","first-page":"2748","DOI":"10.1093\/hmg\/ddp210","volume":"18","author":"R Geng","year":"2009","unstructured":"Geng R, Geller SF, Hayashi T et al: Usher syndrome IIIA gene clarin-1 is essential for hair cell function and associated neural activation. Hum Mol Genet 2009; 18: 2748\u20132760.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2010140_CR14","doi-asserted-by":"publisher","first-page":"1660","DOI":"10.1167\/iovs.07-1094","volume":"49","author":"E Roomets","year":"2008","unstructured":"Roomets E, Kivel\u00e4 T, Tyni T : Carnitine palmitoyltransferase I and Acyl-CoA dehydrogenase 9 in retina: insights of retinopathy in mitochondrial trifunctional protein defects. Invest Ophthalmol Vis Sci 2008; 49: 1660\u20131664.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2010140_CR15","doi-asserted-by":"publisher","first-page":"337","DOI":"10.1016\/0196-8858(91)90017-D","volume":"12","author":"X Huang","year":"1991","unstructured":"Huang X, Miller W : A time-efficient, linear-space local similarity algorithm. Adv Appl Math 1991; 12: 337\u2013357.","journal-title":"Adv Appl Math"},{"key":"BFejhg2010140_CR16","doi-asserted-by":"publisher","first-page":"2947","DOI":"10.1093\/bioinformatics\/btm404","volume":"23","author":"MA Larkin","year":"2007","unstructured":"Larkin MA, Blackshields G, Brown NP et al: Clustal W and Clustal X version 2.0. Bioinformatics 2007; 23: 2947\u20132948.","journal-title":"Bioinformatics"},{"key":"BFejhg2010140_CR17","first-page":"2.6","volume":"2","author":"J Schug","year":"2008","unstructured":"Schug J : Using TESS to predict transcription factor binding sites in DNA sequence. Curr Protoc Bioinformatics 2008; 2: 2.6.","journal-title":"Curr Protoc Bioinformatics"},{"key":"BFejhg2010140_CR18","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1016\/S0168-9525(00)02024-2","volume":"16","author":"P Rice","year":"2000","unstructured":"Rice P, Longden I, Bleasby A : EMBOSS: the European molecular biology open software suite. Trends Genet 2000; 16: 276\u2013277.","journal-title":"Trends Genet"},{"key":"BFejhg2010140_CR19","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1006\/jmbi.2000.4315","volume":"305","author":"A Krogh","year":"2001","unstructured":"Krogh A, Larsson B, von Heijne G, Sonnhammer EL : Predicting transmembrane protein topology with a hidden Markov model: application to complete genomes. J Mol Biol 2001; 305: 567\u2013580.","journal-title":"J Mol Biol"},{"key":"BFejhg2010140_CR20","first-page":"166","volume":"374","author":"K Hofmann","year":"1993","unstructured":"Hofmann K, Stoffel W : TMbase \u2013 A database of membrane spanning proteins segments. Biol Chem Hoppe-Seyler 1993; 374: 166.","journal-title":"Biol Chem Hoppe-Seyler"},{"key":"BFejhg2010140_CR21","doi-asserted-by":"publisher","first-page":"4853","DOI":"10.1073\/pnas.75.10.4853","volume":"75","author":"R Breathnach","year":"1978","unstructured":"Breathnach R, Benoist C, O\u2019Hare K, Gannon F, Chambon P : Ovalbumin gene: evidence for a leader sequence in mRNA and DNA sequences at the exon-intron boundaries. Proc Natl Acad Sci USA 1978; 75: 4853\u20134857.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFejhg2010140_CR22","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1146\/annurev.biochem.72.121801.161720","volume":"72","author":"DL Black","year":"2003","unstructured":"Black DL : Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem 2003; 72: 291\u2013336.","journal-title":"Annu Rev Biochem"},{"key":"BFejhg2010140_CR23","doi-asserted-by":"publisher","first-page":"5006","DOI":"10.1167\/iovs.03-0483","volume":"44","author":"J Reiners","year":"2003","unstructured":"Reiners J, Reidel B, El-Amraoui A et al: Differential distribution of harmonin isoforms and their possible role in Usher-1 protein complexes in mammalian photoreceptor cells. Invest Ophthalmol Vis Sci 2003; 44: 5006\u20135015.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2010140_CR24","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1016\/j.tibs.2005.07.001","volume":"30","author":"J Stetefeld","year":"2005","unstructured":"Stetefeld J, Ruegg MA : Structural and functional diversity generated by alternative mRNA splicing. Trends Biochem Sci 2005; 30: 515\u2013521.","journal-title":"Trends Biochem Sci"},{"key":"BFejhg2010140_CR25","doi-asserted-by":"publisher","first-page":"99","DOI":"10.1093\/hmg\/ddg011","volume":"12","author":"JK Lamba","year":"2003","unstructured":"Lamba JK, Adachi M, Sun D et al: Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons. Hum Mol Genet 2003; 12: 99\u2013109.","journal-title":"Hum Mol Genet"},{"key":"BFejhg2010140_CR26","doi-asserted-by":"publisher","first-page":"2845","DOI":"10.1016\/j.febslet.2007.05.027","volume":"581","author":"I Behm-Ansmant","year":"2007","unstructured":"Behm-Ansmant I, Kashima I, Rehwinkel J, Sauliere J, Wittkopp N, Izaurralde E : mRNA quality control: an ancient machinery recognizes and degrades mRNAs with nonsense codons. FEBS Lett 2007; 581: 2845\u20132853.","journal-title":"FEBS Lett"},{"key":"BFejhg2010140_CR27","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1016\/j.ceb.2005.03.002","volume":"17","author":"F Lejeune","year":"2005","unstructured":"Lejeune F, Maquat LE : Mechanistic links between nonsense-mediated mRNA decay and pre-mRNA splicing in mammalian cells. Curr Opin Cell Biol 2005; 17: 309\u2013315.","journal-title":"Curr Opin Cell Biol"},{"key":"BFejhg2010140_CR28","doi-asserted-by":"publisher","first-page":"4076","DOI":"10.1167\/iovs.03-0197","volume":"44","author":"JE Young","year":"2003","unstructured":"Young JE, Vogt T, Gross KW, Khani SC : A short, highly active photoreceptor-specific enhancer\/promoter region upstream of the human rhodopsin kinase gene. Invest Ophthalmol Vis Sci 2003; 44: 4076\u20134085.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2010140_CR29","doi-asserted-by":"publisher","first-page":"8588","DOI":"10.1074\/jbc.271.15.8588","volume":"271","author":"SM Hewitt","year":"1996","unstructured":"Hewitt SM, Fraizer GC, Wu YJ, Rauscher III FJ, Saunders GF : Differential function of Wilms\u2019 tumor gene WT1 splice isoforms in transcriptional regulation. J Biol Chem 1996; 271: 8588\u20138592.","journal-title":"J Biol Chem"},{"key":"BFejhg2010140_CR30","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1016\/j.ygeno.2007.06.007","volume":"90","author":"KN Alagramam","year":"2007","unstructured":"Alagramam KN, Miller ND, Adappa ND et al: Promoter, alternative splice forms, and genomic structure of protocadherin 15. Genomics 2007; 90: 482\u2013492.","journal-title":"Genomics"},{"key":"BFejhg2010140_CR31","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1038\/ng0297-175","volume":"15","author":"S Yamamoto","year":"1997","unstructured":"Yamamoto S, Sippel KC, Berson EL, Dryja TP : Defects in the rhodopsin kinase gene in the Oguchi form of stationary night blindness. Nat Genet 1997; 15: 175\u2013178.","journal-title":"Nat Genet"},{"key":"BFejhg2010140_CR32","doi-asserted-by":"publisher","first-page":"134","DOI":"10.1016\/j.ophtha.2006.05.069","volume":"114","author":"T Hayashi","year":"2007","unstructured":"Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K : A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses. Ophthalmology 2007; 114: 134\u2013141.","journal-title":"Ophthalmology"},{"key":"BFejhg2010140_CR33","doi-asserted-by":"publisher","first-page":"1564","DOI":"10.1126\/science.1112009","volume":"309","author":"S Katayama","year":"2005","unstructured":"Katayama S, Tomaru Y, Kasukawa T et al: Antisense transcription in the mammalian transcriptome. Science 2005; 309: 1564\u20131566.","journal-title":"Science"},{"key":"BFejhg2010140_CR34","doi-asserted-by":"publisher","first-page":"R33","DOI":"10.1186\/gb-2005-6-4-r33","volume":"6","author":"J Schug","year":"2005","unstructured":"Schug J, Schuller WP, Kappen C, Salbaum JM, Bucan M, Stoeckert CJ : Promoter features related to tissue specificity as measured by Shannon entropy. Genome Biol 2005; 6: R33.","journal-title":"Genome Biol"},{"key":"BFejhg2010140_CR35","doi-asserted-by":"publisher","first-page":"2651","DOI":"10.1167\/iovs.07-1505","volume":"49","author":"W Herrera","year":"2008","unstructured":"Herrera W, Aleman TS, Cideciyan AV et al: Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene. Invest Ophthalmol Vis Sci 2008; 49: 2651\u20132660.","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"BFejhg2010140_CR36","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1159\/000083363","volume":"10","author":"RF Plantinga","year":"2005","unstructured":"Plantinga RF, Kleemola L, Huygen PL et al: Serial audiometry and speech recognition findings in Finnish Usher syndrome type III patients. Audiol Neurootol 2005; 10: 79\u201389.","journal-title":"Audiol Neurootol"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg2010140.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2010140","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg2010140.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:59:56Z","timestamp":1684429196000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg2010140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,8,18]]},"references-count":36,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2011,1]]}},"alternative-id":["BFejhg2010140"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2010.140","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,8,18]]}}}