{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T16:40:27Z","timestamp":1790181627508,"version":"4.1.0"},"reference-count":60,"publisher":"National Academy of Sciences","issue":"23","license":[{"start":{"date-parts":[[2020,11,26]],"date-time":"2020-11-26T00:00:00Z","timestamp":1606348800000},"content-version":"vor","delay-in-days":184,"URL":"https:\/\/www.pnas.org\/site\/aboutpnas\/licenses.xhtml"}],"funder":[{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["1R01EY022652"],"award-info":[{"award-number":["1R01EY022652"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["U19AI100627"],"award-info":[{"award-number":["U19AI100627"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"HHS | National Institutes of Health","doi-asserted-by":"publisher","award":["R01AI125581"],"award-info":[{"award-number":["R01AI125581"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2020,6,9]]},"abstract":"<jats:p>\n                    Retinal disease and loss of vision can result from any disruption of the complex pathways controlling retinal development and homeostasis. Forward genetics provides an excellent tool to find, in an unbiased manner, genes that are essential to these processes. Using\n                    <jats:italic>N<\/jats:italic>\n                    -ethyl-\n                    <jats:italic>N<\/jats:italic>\n                    -nitrosourea mutagenesis in mice in combination with a screening protocol using optical coherence tomography (OCT) and automated meiotic mapping, we identified 11 mutations presumably causative of retinal phenotypes in genes previously known to be essential for retinal integrity. In addition, we found multiple statistically significant gene-phenotype associations that have not been reported previously and decided to target one of these genes,\n                    <jats:italic>Sfxn3<\/jats:italic>\n                    (encoding sideroflexin-3), using CRISPR\/Cas9 technology. We demonstrate, using OCT, light microscopy, and electroretinography, that two\n                    <jats:italic>Sfxn3<\/jats:italic>\n                    <jats:sup>\u2212\/\u2212<\/jats:sup>\n                    mouse lines developed progressive and severe outer retinal degeneration. Electron microscopy showed thinning of the retinal pigment epithelium and disruption of the external limiting membrane. Using single-cell RNA sequencing of retinal cells isolated from C57BL\/6J mice, we demonstrate that\n                    <jats:italic>Sfxn3<\/jats:italic>\n                    is expressed in several bipolar cell subtypes, retinal ganglion cells, and some amacrine cell subtypes but not significantly in M\u00fcller cells or photoreceptors. In situ hybridization confirmed these findings. Furthermore, pathway analysis suggests that Sfxn3 may be associated with synaptic homeostasis. Importantly, electron microscopy analysis showed disruption of synapses and synaptic ribbons in the outer plexiform layer of\n                    <jats:italic>Sfxn3<\/jats:italic>\n                    <jats:sup>\n                      <jats:italic>\u2212\/\u2212<\/jats:italic>\n                    <\/jats:sup>\n                    mice. Our work describes a previously unknown requirement for\n                    <jats:italic>Sfxn3<\/jats:italic>\n                    in retinal function.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1921224117","type":"journal-article","created":{"date-parts":[[2020,5,26]],"date-time":"2020-05-26T16:15:19Z","timestamp":1590509719000},"page":"12931-12942","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":21,"title":["Forward genetic analysis using OCT screening identifies\n                    <i>Sfxn3<\/i>\n                    mutations leading to progressive outer retinal degeneration in mice"],"prefix":"10.1073","volume":"117","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1931-3002","authenticated-orcid":false,"given":"Bo","family":"Chen","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bogale","family":"Aredo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6815-5784","authenticated-orcid":false,"given":"Yuanfei","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia X.","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwani","family":"Kumar","sequence":"additional","affiliation":[{"name":"McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1838-0502","authenticated-orcid":false,"given":"Chao","family":"Xing","sequence":"additional","affiliation":[{"name":"McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390;"},{"name":"Department of Bioinformatics, University of Texas Southwestern Medical Center, Dallas, TX 75390;"},{"name":"Department of Population and Data Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3609-7441","authenticated-orcid":false,"given":"Laurent","family":"Gautron","sequence":"additional","affiliation":[{"name":"Center for Hypothalamic Research and Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen","family":"Lyon","sequence":"additional","affiliation":[{"name":"Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jamie","family":"Russell","sequence":"additional","affiliation":[{"name":"Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaohong","family":"Li","sequence":"additional","affiliation":[{"name":"Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Tang","sequence":"additional","affiliation":[{"name":"Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priscilla","family":"Anderton","sequence":"additional","affiliation":[{"name":"Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2049-7291","authenticated-orcid":false,"given":"Eva Marie Y.","family":"Moresco","sequence":"additional","affiliation":[{"name":"Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3639-246X","authenticated-orcid":false,"given":"Bruce","family":"Beutler","sequence":"additional","affiliation":[{"name":"Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8022-5119","authenticated-orcid":false,"given":"Rafael L.","family":"Ufret-Vincenty","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Texas Southwestern Medical Center, Dallas, TX 75390;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2020,5,26]]},"reference":[{"key":"e_1_3_4_1_2","first-page":"E440","article-title":"Real-time resolution of point mutations that cause phenovariance in mice","volume":"112","author":"Wang T.","year":"2015","unstructured":"T. Wang ., Real-time resolution of point mutations that cause phenovariance in mice. Proc. Natl. Acad. Sci. U.S.A. 112, E440\u2013E449 (2015).","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"e_1_3_4_2_2","doi-asserted-by":"crossref","first-page":"e1003219","DOI":"10.1371\/journal.pgen.1003219","article-title":"Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations","volume":"9","author":"Bull K. R.","year":"2013","unstructured":"K. R. Bull ., Unlocking the bottleneck in forward genetics using whole-genome sequencing and identity by descent to isolate causative mutations. PLoS Genet. 9, e1003219 (2013).","journal-title":"PLoS Genet."},{"key":"e_1_3_4_3_2","doi-asserted-by":"crossref","first-page":"659","DOI":"10.1038\/ni0707-659","article-title":"Precis on forward genetics in mice","volume":"8","author":"Beutler B.","year":"2007","unstructured":"B. Beutler, X. Du, Y. Xia, Precis on forward genetics in mice. Nat. Immunol. 8, 659\u2013664 (2007).","journal-title":"Nat. Immunol."},{"key":"e_1_3_4_4_2","doi-asserted-by":"crossref","first-page":"2041","DOI":"10.1038\/s41467-018-04324-3","article-title":"Large-scale forward genetics screening identifies Trpa1 as a chemosensor for predator odor-evoked innate fear behaviors","volume":"9","author":"Wang Y.","year":"2018","unstructured":"Y. Wang ., Large-scale forward genetics screening identifies Trpa1 as a chemosensor for predator odor-evoked innate fear behaviors. Nat. Commun. 9, 2041 (2018).","journal-title":"Nat. Commun."},{"key":"e_1_3_4_5_2","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1038\/s41590-019-0464-4","article-title":"Syndromic immune disorder caused by a viable hypomorphic allele of spliceosome component Snrnp40","volume":"20","author":"Zhang D.","year":"2019","unstructured":"D. Zhang ., Syndromic immune disorder caused by a viable hypomorphic allele of spliceosome component Snrnp40. Nat. Immunol. 20, 1322\u20131334 (2019).","journal-title":"Nat. Immunol."},{"key":"e_1_3_4_6_2","doi-asserted-by":"crossref","first-page":"16062","DOI":"10.1073\/pnas.1906774116","article-title":"Methodology and theoretical basis of forward genetic screening for sleep\/wakefulness in mice","volume":"116","author":"Miyoshi C.","year":"2019","unstructured":"C. Miyoshi ., Methodology and theoretical basis of forward genetic screening for sleep\/wakefulness in mice. Proc. Natl. Acad. Sci. U.S.A. 116, 16062\u201316067 (2019).","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"e_1_3_4_7_2","doi-asserted-by":"crossref","first-page":"e0183837","DOI":"10.1371\/journal.pone.0183837","article-title":"Mouse models of human ocular disease for translational research","volume":"12","author":"Krebs M. P.","year":"2017","unstructured":"M. P. Krebs ., Mouse models of human ocular disease for translational research. PLoS One 12, e0183837 (2017).","journal-title":"PLoS One"},{"key":"e_1_3_4_8_2","doi-asserted-by":"crossref","first-page":"8214","DOI":"10.1167\/iovs.12-11061","article-title":"An ENU mutagenesis screen in zebrafish for visual system mutants identifies a novel splice-acceptor site mutation in patched2 that results in Colobomas","volume":"53","author":"Lee J.","year":"2012","unstructured":"J. Lee ., An ENU mutagenesis screen in zebrafish for visual system mutants identifies a novel splice-acceptor site mutation in patched2 that results in Colobomas. Invest. Ophthalmol. Vis. Sci. 53, 8214\u20138221 (2012).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_9_2","doi-asserted-by":"crossref","first-page":"7535","DOI":"10.1167\/iovs.15-17704","article-title":"N-Ethylmaleimide-Sensitive factor b (nsfb) is required for normal pigmentation of the zebrafish retinal pigment epithelium","volume":"56","author":"Hanovice N. J.","year":"2015","unstructured":"N. J. Hanovice, C. M. Daly, J. M. Gross, N-Ethylmaleimide-Sensitive factor b (nsfb) is required for normal pigmentation of the zebrafish retinal pigment epithelium. Invest. Ophthalmol. Vis. Sci. 56, 7535\u20137544 (2015).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_10_2","doi-asserted-by":"crossref","first-page":"107632","DOI":"10.1016\/j.exer.2019.03.024","article-title":"Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia","volume":"188","author":"Vetrivel S.","year":"2019","unstructured":"S. Vetrivel ., Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia. Exp. Eye Res. 188, 107632 (2019).","journal-title":"Exp. Eye Res."},{"key":"e_1_3_4_11_2","doi-asserted-by":"crossref","first-page":"3569","DOI":"10.1167\/iovs.12-11125","article-title":"A CNS-specific hypomorphic Pdgfr-beta mutant model of diabetic retinopathy","volume":"54","author":"Jadeja S.","year":"2013","unstructured":"S. Jadeja ., A CNS-specific hypomorphic Pdgfr-beta mutant model of diabetic retinopathy. Invest. Ophthalmol. Vis. Sci. 54, 3569\u20133578 (2013).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_12_2","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1038\/s42003-018-0226-0","article-title":"Identification of genes required for eye development by high-throughput screening of mouse knockouts","volume":"1","author":"Moore B. A.","year":"2018","unstructured":"B. A. Moore .; International Mouse Phenotyping Consortium, Identification of genes required for eye development by high-throughput screening of mouse knockouts. Commun. Biol. 1, 236 (2018). Correction in: Commun. Biol. 2, 97 (2019).","journal-title":"Commun. Biol."},{"key":"e_1_3_4_13_2","first-page":"140","article-title":"A mutagenesis-derived Lrp5 mouse mutant with abnormal retinal vasculature and low bone mineral density","volume":"23","author":"Charette J. R.","year":"2017","unstructured":"J. R. Charette ., A mutagenesis-derived Lrp5 mouse mutant with abnormal retinal vasculature and low bone mineral density. Mol. Vis. 23, 140\u2013148 (2017).","journal-title":"Mol. Vis."},{"key":"e_1_3_4_14_2","doi-asserted-by":"crossref","first-page":"2721","DOI":"10.1016\/j.ajpath.2014.06.010","article-title":"A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration","volume":"184","author":"Song D.","year":"2014","unstructured":"D. Song ., A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. Am. J. Pathol. 184, 2721\u20132729 (2014).","journal-title":"Am. J. Pathol."},{"key":"e_1_3_4_15_2","doi-asserted-by":"crossref","first-page":"1925","DOI":"10.1016\/j.ajpath.2016.03.013","article-title":"Mouse models of NMNAT1-leber congenital amaurosis (LCA9) recapitulate key features of the human disease","volume":"186","author":"Greenwald S. H.","year":"2016","unstructured":"S. H. Greenwald ., Mouse models of NMNAT1-leber congenital amaurosis (LCA9) recapitulate key features of the human disease. Am. J. Pathol. 186, 1925\u20131938 (2016).","journal-title":"Am. J. Pathol."},{"key":"e_1_3_4_16_2","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/s41467-017-02806-4","article-title":"Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database","volume":"9","author":"Wang T.","year":"2018","unstructured":"T. Wang ., Probability of phenotypically detectable protein damage by ENU-induced mutations in the Mutagenetix database. Nat. Commun. 9, 441 (2018).","journal-title":"Nat. Commun."},{"key":"e_1_3_4_17_2","doi-asserted-by":"crossref","first-page":"eaat9528","DOI":"10.1126\/science.aat9528","article-title":"SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism","volume":"362","author":"Kory N.","year":"2018","unstructured":"N. Kory ., SFXN1 is a mitochondrial serine transporter required for one-carbon metabolism. Science 362, eaat9528 (2018).","journal-title":"Science"},{"key":"e_1_3_4_18_2","doi-asserted-by":"crossref","first-page":"3740","DOI":"10.1167\/iovs.19-27212","article-title":"Mice with a combined deficiency of superoxide dismutase 1 (Sod1), DJ-1 (Park7), and parkin (Prkn) develop spontaneous retinal degeneration with aging","volume":"60","author":"Zhu Y.","year":"2019","unstructured":"Y. Zhu ., Mice with a combined deficiency of superoxide dismutase 1 (Sod1), DJ-1 (Park7), and parkin (Prkn) develop spontaneous retinal degeneration with aging. Invest. Ophthalmol. Vis. Sci. 60, 3740\u20133751 (2019).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_19_2","doi-asserted-by":"crossref","first-page":"1165","DOI":"10.1167\/iovs.18-25751","article-title":"A mouse model of retinal recovery from photo-oxidative\/photo-inflammatory injury: Nrf2, SOD1, DJ-1, and parkin are not essential to recovery","volume":"60","author":"Chen B.","year":"2019","unstructured":"B. Chen ., A mouse model of retinal recovery from photo-oxidative\/photo-inflammatory injury: Nrf2, SOD1, DJ-1, and parkin are not essential to recovery. Invest. Ophthalmol. Vis. Sci. 60, 1165\u20131174 (2019).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_20_2","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei I. A.","year":"2010","unstructured":"I. A. Adzhubei ., A method and server for predicting damaging missense mutations. Nat. Methods 7, 248\u2013249 (2010).","journal-title":"Nat. Methods"},{"key":"e_1_3_4_21_2","doi-asserted-by":"crossref","first-page":"e19264","DOI":"10.7554\/eLife.19264","article-title":"Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies","volume":"5","author":"Lee W. H.","year":"2016","unstructured":"W. H. Lee ., Mouse Tmem135 mutation reveals a mechanism involving mitochondrial dynamics that leads to age-dependent retinal pathologies. eLife 5, e19264 (2016).","journal-title":"eLife"},{"key":"e_1_3_4_22_2","doi-asserted-by":"crossref","first-page":"6572","DOI":"10.1167\/iovs.10-7082","article-title":"The role of Vldlr in intraretinal angiogenesis in mice","volume":"52","author":"Xia C. H.","year":"2011","unstructured":"C. H. Xia ., The role of Vldlr in intraretinal angiogenesis in mice. Invest. Ophthalmol. Vis. Sci. 52, 6572\u20136579 (2011).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_23_2","doi-asserted-by":"crossref","first-page":"5558","DOI":"10.1167\/iovs.16-19965","article-title":"Fundus camera-delivered light-induced retinal degeneration in mice with the RPE65 Leu450Met variant is associated with oxidative stress and apoptosis","volume":"57","author":"Zhong X.","year":"2016","unstructured":"X. Zhong ., Fundus camera-delivered light-induced retinal degeneration in mice with the RPE65 Leu450Met variant is associated with oxidative stress and apoptosis. Invest. Ophthalmol. Vis. Sci. 57, 5558\u20135567 (2016).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_24_2","doi-asserted-by":"crossref","first-page":"1888","DOI":"10.1016\/j.cell.2019.05.031","article-title":"Comprehensive integration of single-cell data","volume":"177","author":"Stuart T.","year":"2019","unstructured":"T. Stuart ., Comprehensive integration of single-cell data. Cell 177, 1888\u20131902.e21 (2019).","journal-title":"Cell"},{"key":"e_1_3_4_25_2","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/j.neuron.2019.04.010","article-title":"Single-cell RNA-seq analysis of retinal development identifies NFI factors as regulating mitotic exit and late-born cell specification","volume":"102","author":"Clark B. S.","year":"2019","unstructured":"B. S. Clark ., Single-cell RNA-seq analysis of retinal development identifies NFI factors as regulating mitotic exit and late-born cell specification. Neuron 102, 1111\u20131126.e5 (2019).","journal-title":"Neuron"},{"key":"e_1_3_4_26_2","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1016\/j.cell.2015.05.002","article-title":"Highly parallel genome-wide expression profiling of individual cells using nanoliter droplets","volume":"161","author":"Macosko E. Z.","year":"2015","unstructured":"E. Z. Macosko ., Highly parallel genome-wide expression profiling of individual cells using nanoliter droplets. Cell 161, 1202\u20131214 (2015).","journal-title":"Cell"},{"key":"e_1_3_4_27_2","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1016\/j.cell.2016.07.054","article-title":"Comprehensive classification of retinal bipolar neurons by single-cell transcriptomics","volume":"166","author":"Shekhar K.","year":"2016","unstructured":"K. Shekhar ., Comprehensive classification of retinal bipolar neurons by single-cell transcriptomics. Cell 166, 1308\u20131323.e30 (2016).","journal-title":"Cell"},{"key":"e_1_3_4_28_2","doi-asserted-by":"crossref","unstructured":"C. S. Cowan . Cell types of the human retina and its organoids at single-cell resolution: Developmental convergence transcriptomic identity and disease map. bioRxiv:10.1101\/703348 (16 July 2019).","DOI":"10.1101\/703348"},{"key":"e_1_3_4_29_2","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1186\/s12974-014-0221-4","article-title":"Differences in the distribution, phenotype and gene expression of subretinal microglia\/macrophages in C57BL\/6N (Crb1 rd8\/rd8) versus C57BL6\/J (Crb1 wt\/wt) mice","volume":"12","author":"Aredo B.","year":"2015","unstructured":"B. Aredo ., Differences in the distribution, phenotype and gene expression of subretinal microglia\/macrophages in C57BL\/6N (Crb1 rd8\/rd8) versus C57BL6\/J (Crb1 wt\/wt) mice. J. Neuroinflammation. 12, 6 (2015).","journal-title":"J. Neuroinflammation."},{"key":"e_1_3_4_30_2","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.1093\/hmg\/ddg232","article-title":"CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina","volume":"12","author":"Mehalow A. K.","year":"2003","unstructured":"A. K. Mehalow ., CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum. Mol. Genet. 12, 2179\u20132189 (2003).","journal-title":"Hum. Mol. Genet."},{"key":"e_1_3_4_31_2","doi-asserted-by":"crossref","first-page":"e32484","DOI":"10.1371\/journal.pone.0032484","article-title":"Defects in the outer limiting membrane are associated with rosette development in the Nrl\u2212\/\u2212 retina","volume":"7","author":"Stuck M. W.","year":"2012","unstructured":"M. W. Stuck, S. M. Conley, M. I. Naash, Defects in the outer limiting membrane are associated with rosette development in the Nrl\u2212\/\u2212 retina. PLoS One 7, e32484 (2012).","journal-title":"PLoS One"},{"key":"e_1_3_4_32_2","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1177\/1073858409340253","article-title":"The making of synaptic ribbons: How they are built and what they do","volume":"15","author":"Schmitz F.","year":"2009","unstructured":"F. Schmitz, The making of synaptic ribbons: How they are built and what they do. Neuroscientist 15, 611\u2013624 (2009).","journal-title":"Neuroscientist"},{"key":"e_1_3_4_33_2","doi-asserted-by":"crossref","first-page":"3","DOI":"10.3389\/fnmol.2014.00003","article-title":"Presynaptic [Ca(2+)] and GCAPs: Aspects on the structure and function of photoreceptor ribbon synapses","volume":"7","author":"Schmitz F.","year":"2014","unstructured":"F. Schmitz, Presynaptic [Ca(2+)] and GCAPs: Aspects on the structure and function of photoreceptor ribbon synapses. Front. Mol. Neurosci. 7, 3 (2014).","journal-title":"Front. Mol. Neurosci."},{"key":"e_1_3_4_34_2","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1167\/iovs.11-8168","article-title":"CNGA3 deficiency affects cone synaptic terminal structure and function and leads to secondary rod dysfunction and degeneration","volume":"53","author":"Xu J.","year":"2012","unstructured":"J. Xu ., CNGA3 deficiency affects cone synaptic terminal structure and function and leads to secondary rod dysfunction and degeneration. Invest. Ophthalmol. Vis. Sci. 53, 1117\u20131129 (2012).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_35_2","doi-asserted-by":"crossref","first-page":"2606","DOI":"10.1523\/JNEUROSCI.2038-18.2019","article-title":"A multiple piccolino-RIBEYE interaction supports plate-shaped synaptic ribbons in retinal neurons","volume":"39","author":"M\u00fcller T. M.","year":"2019","unstructured":"T. M. M\u00fcller ., A multiple piccolino-RIBEYE interaction supports plate-shaped synaptic ribbons in retinal neurons. J. Neurosci. 39, 2606\u20132619 (2019).","journal-title":"J. Neurosci."},{"key":"e_1_3_4_36_2","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1002\/syn.21674","article-title":"Early degeneration of photoreceptor synapse in Ccl2\/Cx3cr1-deficient mice on Crb1(rd8) background","volume":"67","author":"Zhang J.","year":"2013","unstructured":"J. Zhang ., Early degeneration of photoreceptor synapse in Ccl2\/Cx3cr1-deficient mice on Crb1(rd8) background. Synapse 67, 515\u2013531 (2013).","journal-title":"Synapse"},{"key":"e_1_3_4_37_2","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1093\/hmg\/ddq494","article-title":"NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development","volume":"20","author":"Won J.","year":"2011","unstructured":"J. Won ., NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. Hum. Mol. Genet. 20, 482\u2013496 (2011).","journal-title":"Hum. Mol. Genet."},{"key":"e_1_3_4_38_2","doi-asserted-by":"crossref","first-page":"e44645","DOI":"10.1371\/journal.pone.0044645","article-title":"Rod photoreceptor ribbon synapses in DBA\/2J mice show progressive age-related structural changes","volume":"7","author":"Fuchs M.","year":"2012","unstructured":"M. Fuchs ., Rod photoreceptor ribbon synapses in DBA\/2J mice show progressive age-related structural changes. PLoS One 7, e44645 (2012).","journal-title":"PLoS One"},{"key":"e_1_3_4_39_2","doi-asserted-by":"crossref","first-page":"4065","DOI":"10.1523\/JNEUROSCI.2703-14.2015","article-title":"Functional roles of complexin in neurotransmitter release at ribbon synapses of mouse retinal bipolar neurons","volume":"35","author":"Vaithianathan T.","year":"2015","unstructured":"T. Vaithianathan, D. Henry, W. Akmentin, G. Matthews, Functional roles of complexin in neurotransmitter release at ribbon synapses of mouse retinal bipolar neurons. J. Neurosci. 35, 4065\u20134070 (2015).","journal-title":"J. Neurosci."},{"key":"e_1_3_4_40_2","doi-asserted-by":"crossref","first-page":"2742","DOI":"10.1002\/dvdy.22401","article-title":"Developmental expression of sideroflexin family genes in Xenopus embryos","volume":"239","author":"Li X.","year":"2010","unstructured":"X. Li ., Developmental expression of sideroflexin family genes in Xenopus embryos. Dev. Dyn. 239, 2742\u20132747 (2010).","journal-title":"Dev. Dyn."},{"key":"e_1_3_4_41_2","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1007\/s12017-019-08553-7","article-title":"Sideroflexin 3 is a mitochondrial protein enriched in neurons","volume":"21","author":"Rivell A.","year":"2019","unstructured":"A. Rivell, R. S. Petralia, Y. X. Wang, M. P. Mattson, P. J. Yao, Sideroflexin 3 is a mitochondrial protein enriched in neurons. Neuromolecular Med. 21, 314\u2013321 (2019).","journal-title":"Neuromolecular Med."},{"key":"e_1_3_4_42_2","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1242\/jcs.194241","article-title":"Sideroflexin 3 is an \u03b1-synuclein-dependent mitochondrial protein that regulates synaptic morphology","volume":"130","author":"Amorim I. S.","year":"2017","unstructured":"I. S. Amorim ., Sideroflexin 3 is an \u03b1-synuclein-dependent mitochondrial protein that regulates synaptic morphology. J. Cell Sci. 130, 325\u2013331 (2017).","journal-title":"J. Cell Sci."},{"key":"e_1_3_4_43_2","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1101\/gad.873001","article-title":"A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f\/f) mice","volume":"15","author":"Fleming M. D.","year":"2001","unstructured":"M. D. Fleming, D. R. Campagna, J. N. Haslett, C. C. Trenor 3rd, N. C. Andrews, A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype of flexed-tail (f\/f) mice. Genes Dev. 15, 652\u2013657 (2001).","journal-title":"Genes Dev."},{"key":"e_1_3_4_44_2","doi-asserted-by":"crossref","first-page":"14049","DOI":"10.1038\/ncomms14049","article-title":"Massively parallel digital transcriptional profiling of single cells","volume":"8","author":"Zheng G. X.","year":"2017","unstructured":"G. X. Zheng ., Massively parallel digital transcriptional profiling of single cells. Nat. Commun. 8, 14049 (2017).","journal-title":"Nat. Commun."},{"key":"e_1_3_4_45_2","doi-asserted-by":"crossref","first-page":"2759","DOI":"10.1038\/s41467-018-05134-3","article-title":"Single-cell transcriptome profiling of retinal ganglion cells identifies cellular subtypes","volume":"9","author":"Rheaume B. A.","year":"2018","unstructured":"B. A. Rheaume ., Single-cell transcriptome profiling of retinal ganglion cells identifies cellular subtypes. Nat. Commun. 9, 2759 (2018). Correction in: Nat. Commun. 9, 3203 (2018).","journal-title":"Nat. Commun."},{"key":"e_1_3_4_46_2","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1002\/jcb.20481","article-title":"Roles of CTPL\/Sfxn3 and Sfxn family members in pancreatic islet","volume":"95","author":"Yoshikumi Y.","year":"2005","unstructured":"Y. Yoshikumi ., Roles of CTPL\/Sfxn3 and Sfxn family members in pancreatic islet. J. Cell. Biochem. 95, 1157\u20131168 (2005).","journal-title":"J. Cell. Biochem."},{"key":"e_1_3_4_47_2","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/j.ajhg.2013.09.011","article-title":"Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4","volume":"93","author":"Hildick-Smith G. J.","year":"2013","unstructured":"G. J. Hildick-Smith ., Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. Am. J. Hum. Genet. 93, 906\u2013914 (2013).","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_3_4_48_2","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s12576-018-0652-2","article-title":"Regulation of mitochondrial iron homeostasis by sideroflexin 2","volume":"69","author":"Mon E. E.","year":"2019","unstructured":"E. E. Mon ., Regulation of mitochondrial iron homeostasis by sideroflexin 2. J. Physiol. Sci. 69, 359\u2013373 (2019).","journal-title":"J. Physiol. Sci."},{"key":"e_1_3_4_49_2","doi-asserted-by":"crossref","first-page":"2926","DOI":"10.1073\/pnas.0510060103","article-title":"CSPalpha-deficiency causes massive and rapid photoreceptor degeneration","volume":"103","author":"Schmitz F.","year":"2006","unstructured":"F. Schmitz ., CSPalpha-deficiency causes massive and rapid photoreceptor degeneration. Proc. Natl. Acad. Sci. U.S.A. 103, 2926\u20132931 (2006).","journal-title":"Proc. Natl. Acad. Sci. U.S.A."},{"key":"e_1_3_4_50_2","doi-asserted-by":"crossref","first-page":"3074","DOI":"10.1167\/iovs.08-3190","article-title":"Early synaptic defects in tulp1\u2212\/\u2212 mice","volume":"50","author":"Grossman G. H.","year":"2009","unstructured":"G. H. Grossman, G. J. Pauer, U. Narendra, N. S. Peachey, S. A. Hagstrom, Early synaptic defects in tulp1\u2212\/\u2212 mice. Invest. Ophthalmol. Vis. Sci. 50, 3074\u20133083 (2009).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_51_2","doi-asserted-by":"crossref","first-page":"5417","DOI":"10.1167\/iovs.18-25345","article-title":"Clinically relevant outcome measures for the I307N rhodopsin mouse: A model of inducible autosomal dominant retinitis pigmentosa","volume":"59","author":"Massengill M. T.","year":"2018","unstructured":"M. T. Massengill ., Clinically relevant outcome measures for the I307N rhodopsin mouse: A model of inducible autosomal dominant retinitis pigmentosa. Invest. Ophthalmol. Vis. Sci. 59, 5417\u20135430 (2018).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_52_2","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1016\/S0896-6273(02)00750-X","article-title":"Plexin-B1 directly interacts with PDZ-RhoGEF\/LARG to regulate RhoA and growth cone morphology","volume":"35","author":"Swiercz J. M.","year":"2002","unstructured":"J. M. Swiercz, R. Kuner, J. Behrens, S. Offermanns, Plexin-B1 directly interacts with PDZ-RhoGEF\/LARG to regulate RhoA and growth cone morphology. Neuron 35, 51\u201363 (2002).","journal-title":"Neuron"},{"key":"e_1_3_4_53_2","doi-asserted-by":"crossref","first-page":"4320","DOI":"10.1007\/s12035-017-0649-5","article-title":"Semaphorin4D-PlexinB1 signaling attenuates photoreceptor outer segment phagocytosis by reducing Rac1 activity of RPE cells","volume":"55","author":"Bulloj A.","year":"2018","unstructured":"A. Bulloj, A. Maminishkis, M. Mizui, S. C. Finnemann, Semaphorin4D-PlexinB1 signaling attenuates photoreceptor outer segment phagocytosis by reducing Rac1 activity of RPE cells. Mol. Neurobiol. 55, 4320\u20134332 (2018).","journal-title":"Mol. Neurobiol."},{"key":"e_1_3_4_54_2","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1016\/j.exer.2017.03.009","article-title":"Increased susceptibility to fundus camera-delivered light-induced retinal degeneration in mice deficient in oxidative stress response proteins","volume":"159","author":"Ding Y.","year":"2017","unstructured":"Y. Ding, B. Aredo, X. Zhong, C. X. Zhao, R. L. Ufret-Vincenty, Increased susceptibility to fundus camera-delivered light-induced retinal degeneration in mice deficient in oxidative stress response proteins. Exp. Eye Res. 159, 58\u201368 (2017).","journal-title":"Exp. Eye Res."},{"key":"e_1_3_4_55_2","doi-asserted-by":"crossref","first-page":"5878","DOI":"10.1167\/iovs.09-4457","article-title":"Transgenic mice expressing variants of complement factor H develop AMD-like retinal findings","volume":"51","author":"Ufret-Vincenty R. L.","year":"2010","unstructured":"R. L. Ufret-Vincenty ., Transgenic mice expressing variants of complement factor H develop AMD-like retinal findings. Invest. Ophthalmol. Vis. Sci. 51, 5878\u20135887 (2010).","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_3_4_56_2","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1016\/0896-6273(88)90127-4","article-title":"Immunological, morphological, and electrophysiological variation among retinal ganglion cells purified by panning","volume":"1","author":"Barres B. A.","year":"1988","unstructured":"B. A. Barres, B. E. Silverstein, D. P. Corey, L. L. Chun, Immunological, morphological, and electrophysiological variation among retinal ganglion cells purified by panning. Neuron 1, 791\u2013803 (1988).","journal-title":"Neuron"},{"key":"e_1_3_4_57_2","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1016\/j.mex.2015.01.002","article-title":"Quick and reliable method for retina dissociation and separation of rod photoreceptor perikarya from adult mice","volume":"2","author":"Feodorova Y.","year":"2015","unstructured":"Y. Feodorova, M. Koch, S. Bultman, S. Michalakis, I. Solovei, Quick and reliable method for retina dissociation and separation of rod photoreceptor perikarya from adult mice. MethodsX 2, 39\u201346 (2015).","journal-title":"MethodsX"},{"key":"e_1_3_4_58_2","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1007\/978-1-4939-7407-8_21","article-title":"Single-cell dissociation and characterization in the murine retina and optic nerve","volume":"1695","author":"Choi H. J.","year":"2018","unstructured":"H. J. Choi, R. Wang, T. C. Jakobs, Single-cell dissociation and characterization in the murine retina and optic nerve. Methods Mol. Biol. 1695, 311\u2013334 (2018).","journal-title":"Methods Mol. Biol."},{"key":"e_1_3_4_59_2","doi-asserted-by":"crossref","first-page":"1937","DOI":"10.1172\/JCI95089","article-title":"ZMYND8 acetylation mediates HIF-dependent breast cancer progression and metastasis","volume":"128","author":"Chen Y.","year":"2018","unstructured":"Y. Chen ., ZMYND8 acetylation mediates HIF-dependent breast cancer progression and metastasis. J. Clin. Invest. 128, 1937\u20131955 (2018).","journal-title":"J. Clin. Invest."},{"key":"e_1_3_4_60_2","doi-asserted-by":"crossref","first-page":"5327","DOI":"10.1172\/JCI130239","article-title":"Dermal adipose tissue has high plasticity and undergoes reversible dedifferentiation in mice","volume":"129","author":"Zhang Z.","year":"2019","unstructured":"Z. Zhang ., Dermal adipose tissue has high plasticity and undergoes reversible dedifferentiation in mice. J Clin. Invest. 129, 5327\u20135342 (2019).","journal-title":"J Clin. Invest."}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pnas.org\/syndication\/doi\/10.1073\/pnas.1921224117","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.1921224117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,6]],"date-time":"2024-08-06T08:27:27Z","timestamp":1722932847000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.1921224117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,26]]},"references-count":60,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2020,6,9]]}},"alternative-id":["10.1073\/pnas.1921224117"],"URL":"https:\/\/doi.org\/10.1073\/pnas.1921224117","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,26]]},"assertion":[{"value":"2020-05-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}