{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T04:26:09Z","timestamp":1661487969675},"reference-count":25,"publisher":"International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IRDR"],"published-print":{"date-parts":[[2020,2,29]]},"DOI":"10.5582\/irdr.2019.01109","type":"journal-article","created":{"date-parts":[[2020,2,3]],"date-time":"2020-02-03T22:04:04Z","timestamp":1580767444000},"page":"48-53","source":"Crossref","is-referenced-by-count":1,"title":["Characterization of a novel pathogenic variation c.1237T&gt;G in the FZD4 gene presenting new inheritance from an Iranian individual suffering vitreoretinopathy"],"prefix":"10.5582","volume":"9","author":[{"given":"Mina","family":"Zamani","sequence":"first","affiliation":[{"name":"Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran."},{"name":"Narges Genetics Diagnostic Laboratory, Ahvaz, Iran."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gholamreza","family":"Shariati","sequence":"additional","affiliation":[{"name":"Narges Genetics Diagnostic Laboratory, Ahvaz, Iran."},{"name":"Department of Genetics, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahereh","family":"Seifi","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran."},{"name":"Narges Genetics Diagnostic Laboratory, Ahvaz, Iran."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alireza","family":"Sedaghat","sequence":"additional","affiliation":[{"name":"Narges Genetics Diagnostic Laboratory, Ahvaz, Iran."},{"name":"Health Research Institute, Diabetes Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Galehdari","sequence":"additional","affiliation":[{"name":"Department of Genetics, Faculty of Sciences, Shahid Chamran University of Ahvaz, Ahvaz, Iran."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"3542","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Gilmour DF. Familial exudative vitreoretinopathy and related retinopathies. Eye (Lond). 2015; 29:1-14.","DOI":"10.1038\/eye.2014.70"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Fei P, Zhu X, Jiang Z, Ma S, Li J, Zhang Q, Zhou Y, Xu Y, Tai Z, Zhang L, Huang L, Yang Z, Zhao P, Zhu X. Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. Sci Rep. 2015; 5:16120.","DOI":"10.1038\/srep16120"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol. 1969; 68:578-594.","DOI":"10.1016\/0002-9394(69)91237-9"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Robitaille J, MacDonald ML, Kaykas A, <i>et al<\/i>. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Nat Genet. 2002; 32:326-330.","DOI":"10.1038\/ng957"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Collin RW, Nikopoulos K, Dona M, <i>et al<\/i>. ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature. Proc Natl Acad Sci U S A. 2013; 110:9856-9861.","DOI":"10.1073\/pnas.1220864110"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Nikopoulos K, Gilissen C, Hoischen A, <i>et al<\/i>. Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am J Hum Genet. 2010; 86:240-247.","DOI":"10.1016\/j.ajhg.2009.12.016"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Toomes C, Bottomley HM, Jackson RM, <i>et al<\/i>. Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q. Am J Hum Genet. 2004; 74:721-730.","DOI":"10.1086\/383202"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Poulter JA, Ali M, Gilmour DF, <i>et al<\/i>. Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. Am J Hum Genet. 2016; 98:592.","DOI":"10.1016\/j.ajhg.2016.02.017"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet. 1993; 5:180-183.","DOI":"10.1038\/ng1093-180"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Wang Y, Rattner A, Zhou Y, Williams J, Smallwood PM, Nathans J. Norrin\/Frizzled4 signaling in retinal vascular development and blood brain barrier plasticity. Cell. 2012; 151:1332-1344.","DOI":"10.1016\/j.cell.2012.10.042"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Gupta S, Chatterjee S, Mukherjee A, Mutsuddi M. Whole exome sequencing: Uncovering causal genetic variants for ocular diseases. Exp Eye Res. 2017; 164:139-150.","DOI":"10.1016\/j.exer.2017.08.013"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Stranneheim H, Wedell A. Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders. J Intern Med. 2016; 279:3-15.","DOI":"10.1111\/joim.12399"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Zhu X, Petrovski S, Xie P, <i>et al<\/i>. Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. Genet Med. 2015; 17:774-781.","DOI":"10.1038\/gim.2014.191"},{"key":"14","doi-asserted-by":"crossref","unstructured":"15. Kondo H, Hayashi H, Oshima K, Tahira T, Hayashi K. Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. Br J Ophthalmol. 2003; 87:1291-1295.","DOI":"10.1136\/bjo.87.10.1291"},{"key":"15","doi-asserted-by":"crossref","unstructured":"16. Drenser KA, Dailey W, Vinekar A, Dalal K, Capone A, Jr, Trese MT. Clinical presentation and genetic correlation of patients with mutations affecting the <i>FZD4<\/i> gene. Arch Ophthalmol. 2009; 127:1649-1654.","DOI":"10.1001\/archophthalmol.2009.322"},{"key":"16","unstructured":"17. Toomes C, Bottomley HM, Scott S, Mackey DA, Craig JE, Appukuttan B, Stout JT, Flaxel CJ, Zhang K, Black GC, Fryer A, Downey LM, Inglehearn CF. Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci.. 2004; 45:2083-2090."},{"key":"17","doi-asserted-by":"crossref","unstructured":"18. Salvo J, Lyubasyuk V, Xu M, Wang H, Wang F, Nguyen D, Wang K, Luo H, Wen C, Shi C, Lin D, Zhang K, Chen R. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015; 56:1937-1946.","DOI":"10.1167\/iovs.14-16065"},{"key":"18","doi-asserted-by":"crossref","unstructured":"19. Robitaille JM, Zheng B, Wallace K, <i>et al<\/i>. The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. Br J Ophthalmol. 2011; 95:574-579.","DOI":"10.1136\/bjo.2010.190116"},{"key":"19","doi-asserted-by":"crossref","unstructured":"20. Qin M, Hayashi H, Oshima K, Tahira T, Hayashi K, Kondo H. Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and\/or FZD4 genes. Hum mutat. 2005; 26:104-112.","DOI":"10.1002\/humu.20191"},{"key":"20","doi-asserted-by":"crossref","unstructured":"21. MacDonald ML, Goldberg YP, Macfarlane J, Samuels ME, Trese MT, Shastry BS. Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. Clin Genet. 2005; 67:363-366.","DOI":"10.1111\/j.1399-0004.2005.00408.x"},{"key":"21","unstructured":"22. Nallathambi J, Shukla D, Rajendran A, Namperumalsamy P, Muthulakshmi R, Sundaresan P. Identification of novel FZD4 mutations in Indian patients with familial exudative vitreoretinopathy. Mol Vis. 2006; 12:1086-1092."},{"key":"22","doi-asserted-by":"crossref","unstructured":"23. Nikopoulos K, Venselaar H, Collin RW, <i>et al<\/i>. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat. 2010; 31:656-666.","DOI":"10.1002\/humu.21250"},{"key":"23","doi-asserted-by":"crossref","unstructured":"24. Yoshida S, Arita R, Yoshida A, Tada H, Emori A, Noda Y, Nakao S, Fujisawa K, Ishibashi T. Novel mutation in <i>FZD4<\/i> gene in a Japanese pedigree with familial exudative vitreoretinopathy. Am J Ophthalmol. 2004; 138:670-671.","DOI":"10.1016\/j.ajo.2004.05.001"},{"key":"24","doi-asserted-by":"crossref","unstructured":"25. Petersen J, Wright SC, Rodr\u00edguez D, Matricon P, Lahav N, Vromen A, Friedler A, Str\u00f6mqvist J, Wennmalm S, Carlsson J, Schulte G. Agonist-induced dimer dissociation as a macromolecular step in G protein-coupled receptor signaling. Nat Commun. 2017; 8:226.","DOI":"10.1038\/s41467-017-00253-9"},{"key":"25","doi-asserted-by":"crossref","unstructured":"26. Kondo H, Qin M, Tahira T, Uchio E, Hayashi K. Severe form of familial exudative vitreoretinopathy caused by homozygous R417Q mutation in frizzled-4 gene. Ophthalmic Genet. 2007; 28:220-223.","DOI":"10.1080\/13816810701663543"}],"container-title":["Intractable &amp; Rare Diseases Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/9\/1\/9_2019.01109\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,3,21]],"date-time":"2020-03-21T03:35:42Z","timestamp":1584761742000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/irdr\/9\/1\/9_2019.01109\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2,29]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020]]}},"URL":"https:\/\/doi.org\/10.5582\/irdr.2019.01109","relation":{},"ISSN":["2186-361X","2186-3644"],"issn-type":[{"value":"2186-361X","type":"electronic"},{"value":"2186-3644","type":"print"}],"subject":[],"published":{"date-parts":[[2020,2,29]]}}}