{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T21:03:38Z","timestamp":1774559018325,"version":"3.50.1"},"reference-count":39,"publisher":"Public Library of Science (PLoS)","issue":"10","license":[{"start":{"date-parts":[[2014,10,30]],"date-time":"2014-10-30T00:00:00Z","timestamp":1414627200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS ONE"],"DOI":"10.1371\/journal.pone.0110299","type":"journal-article","created":{"date-parts":[[2014,10,30]],"date-time":"2014-10-30T18:09:02Z","timestamp":1414692542000},"page":"e110299","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":25,"title":["Gene Profiling of Postnatal Mfrprd6 Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs"],"prefix":"10.1371","volume":"9","author":[{"given":"Ramani","family":"Soundararajan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jungyeon","family":"Won","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Timothy M.","family":"Stearns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeremy R.","family":"Charette","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wanda L.","family":"Hicks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gayle B.","family":"Collin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen K.","family":"Naggert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark P.","family":"Krebs","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patsy M.","family":"Nishina","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2014,10,30]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"9553","DOI":"10.1073\/pnas.0501451102","article-title":"Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein","volume":"102","author":"OH Sundin","year":"2005","journal-title":"Proc Natl Acad Sci U S A"},{"key":"ref2","first-page":"1483","article-title":"A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation","volume":"12","author":"R Ayala-Ramirez","year":"2006","journal-title":"Mol Vis"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.ajo.2008.04.029","article-title":"A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen","volume":"146","author":"J Crespi","year":"2008","journal-title":"Am JOphthalmol"},{"key":"ref4","first-page":"1794","article-title":"Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex","volume":"15","author":"JC Zenteno","year":"2009","journal-title":"Mol Vis"},{"key":"ref5","first-page":"540","article-title":"A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy","volume":"16","author":"R Mukhopadhyay","year":"2010","journal-title":"Mol Vis"},{"key":"ref6","first-page":"2623","article-title":"Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature","volume":"18","author":"A Neri","year":"2012","journal-title":"Mol Vis"},{"key":"ref7","first-page":"3149","article-title":"Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens","volume":"41","author":"NL Hawes","year":"2000","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1093\/hmg\/11.16.1879","article-title":"Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6","volume":"11","author":"S Kameya","year":"2002","journal-title":"Hum Mol Genet"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"7256","DOI":"10.1167\/iovs.11-8112","article-title":"174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy","volume":"52","author":"J Fogerty","year":"2011","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.exer.2013.10.020","article-title":"Genetic modifier loci of mouse Mfrp(rd6) identified by quantitative trait locus analysis","volume":"118","author":"J Won","year":"2014","journal-title":"Exp Eye Res"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"5514","DOI":"10.1167\/iovs.06-0449","article-title":"Spatial and temporal expression of MFRP and its interaction with CTRP5","volume":"47","author":"MN Mandal","year":"2006","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"563","DOI":"10.1017\/S0952523808080723","article-title":"Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments","volume":"25","author":"J Won","year":"2008","journal-title":"Vis Neurosci"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1089\/hum.2011.169","article-title":"Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept","volume":"23","author":"A Dinculescu","year":"2012","journal-title":"Hum Gene Ther"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1006\/bbrc.2001.4551","article-title":"Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein","volume":"282","author":"M Katoh","year":"2001","journal-title":"Biochem Biophys Res Commun"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"2657","DOI":"10.1093\/hmg\/ddg289","article-title":"Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration","volume":"12","author":"C Hayward","year":"2003","journal-title":"Hum Mol Genet"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1093\/genetics\/154.4.1735","article-title":"Two genes required for meiotic recombination in Drosophila are expressed from a dicistronic message","volume":"154","author":"H Liu","year":"2000","journal-title":"Genetics"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1038\/ng.813","article-title":"Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice","volume":"43","author":"KS Nair","year":"2011","journal-title":"Nat Genet"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1038\/ng.2554","article-title":"Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia","volume":"45","author":"VJ Verhoeven","year":"2013","journal-title":"Nat Genet"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"e1003299","DOI":"10.1371\/journal.pgen.1003299","article-title":"Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia","volume":"9","author":"AK Kiefer","year":"2013","journal-title":"PLoS Genet"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"160","DOI":"10.1016\/j.mcn.2005.07.009","article-title":"Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases","volume":"30","author":"Y Lee","year":"2005","journal-title":"Mol Cell Neurosci"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1007\/978-1-4614-0631-0_50","article-title":"Translational vision research models program","volume":"723","author":"J Won","year":"2012","journal-title":"Adv Exp Med Biol"},{"key":"ref22","first-page":"391384","article-title":"Mouse model resources for vision research","volume":"2011","author":"J Won","year":"2011","journal-title":"J Ophthalmol"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1038\/3813","article-title":"Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle","volume":"20","author":"TM Redmond","year":"1998","journal-title":"Nat Genet"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1080\/13816810802626399","article-title":"RPE65: role in the visual cycle, human retinal disease, and gene therapy","volume":"30","author":"X Cai","year":"2009","journal-title":"Ophthalmic Genet"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.ajhg.2011.02.006","article-title":"Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease","volume":"88","author":"A Gal","year":"2011","journal-title":"Am J Hum Genet"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1093\/hmg\/9.2.155","article-title":"Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene","volume":"9","author":"S Ikeda","year":"2000","journal-title":"Hum Mol Genet"},{"key":"ref27","doi-asserted-by":"crossref","first-page":"2929","DOI":"10.1167\/iovs.03-1184","article-title":"Identification of gene expression changes associated with the progression of retinal degeneration in the rd1 mouse","volume":"45","author":"AS Hackam","year":"2004","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref28","first-page":"955","article-title":"Changes in gene expression associated with retinal degeneration in the rd3 mouse","volume":"19","author":"CL Cheng","year":"2013","journal-title":"Mol Vis"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"e31371","DOI":"10.1371\/journal.pone.0031371","article-title":"Protective gene expression changes elicited by an inherited defect in photoreceptor structure","volume":"7","author":"YV Sharma","year":"2012","journal-title":"PloS one"},{"key":"ref30","first-page":"539","article-title":"The CUB domain. A widespread module in developmentally regulated proteins","volume":"231","author":"P Bork","year":"1993","journal-title":"J Mol Biol"},{"key":"ref31","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.ydbio.2009.07.002","article-title":"Spatial and temporal regulation of Wnt\/beta-catenin signaling is essential for development of the retinal pigment epithelium","volume":"334","author":"N Fujimura","year":"2009","journal-title":"Dev Biol"},{"key":"ref32","doi-asserted-by":"crossref","first-page":"e1002757","DOI":"10.1371\/journal.pgen.1002757","article-title":"A regulatory loop involving PAX6, MITF, and WNT signaling controls retinal pigment epithelium development","volume":"8","author":"K Bharti","year":"2012","journal-title":"PLoS Genet"},{"key":"ref33","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1167\/iovs.04-0856","article-title":"Targeted disruption of FSCN2 gene induces retinopathy in mice","volume":"46","author":"S Yokokura","year":"2005","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1016\/S0378-1119(02)01187-3","article-title":"Serine proteases and their homologs in the Drosophila melanogaster genome: an initial analysis of sequence conservation and phylogenetic relationships","volume":"304","author":"J Ross","year":"2003","journal-title":"Gene"},{"key":"ref35","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1016\/j.gene.2013.06.045","article-title":"Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene","volume":"528","author":"MB Said","year":"2013","journal-title":"Gene"},{"key":"ref36","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1080\/13816810701651241","article-title":"Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization","volume":"29","author":"OH Sundin","year":"2008","journal-title":"Ophthalmic Genet"},{"key":"ref37","doi-asserted-by":"crossref","first-page":"558","DOI":"10.1016\/j.ceb.2004.07.010","article-title":"Regulation of matrix biology by matrix metalloproteinases","volume":"16","author":"JD Mott","year":"2004","journal-title":"Curr Opin Cell Biol"},{"key":"ref38","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/bdrc.20063","article-title":"Proteases in eye development and disease","volume":"78","author":"MA Wride","year":"2006","journal-title":"Birth Defects Res C Embryo Today"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"8119","DOI":"10.1167\/iovs.13-13536","article-title":"A perspective on the role of the extracellular matrix in progressive retinal degenerative disorders","volume":"54","author":"MR Al-Ubaidi","year":"2013","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["PLoS ONE"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pone.0110299","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,20]],"date-time":"2022-04-20T23:18:42Z","timestamp":1650496722000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pone.0110299"}},"subtitle":[],"editor":[{"given":"Knut","family":"Stieger","sequence":"first","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2014,10,30]]},"references-count":39,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2014,10,30]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pone.0110299","relation":{},"ISSN":["1932-6203"],"issn-type":[{"value":"1932-6203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,10,30]]}}}