{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T20:41:19Z","timestamp":1786567279823,"version":"build-2736575974"},"reference-count":68,"publisher":"Life Science Alliance, LLC","issue":"12","license":[{"start":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:00:00Z","timestamp":1697760000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001824","name":"Grantov\u00e1 Agentura \u010cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["21-05146S"],"award-info":[{"award-number":["21-05146S"]}],"id":[{"id":"10.13039\/501100001824","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","award":["CZ.02.1.01\/0.0\/0.0\/15_003\/0000460"],"award-info":[{"award-number":["CZ.02.1.01\/0.0\/0.0\/15_003\/0000460"]}],"id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","award":["LM2023050"],"award-info":[{"award-number":["LM2023050"]}],"id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009647","name":"Ministry of Health","doi-asserted-by":"publisher","award":["NU22-07-00380"],"award-info":[{"award-number":["NU22-07-00380"]}],"id":[{"id":"10.13039\/100009647","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["life-science-alliance.org"],"crossmark-restriction":true},"short-container-title":["Life Sci. Alliance"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:p>\n                    Primary cilia are cellular surface projections enriched in receptors and signaling molecules, acting as signaling hubs that respond to stimuli. Malfunctions in primary cilia have been linked to human diseases, including retinopathies and ocular defects. Here, we focus on TMEM107, a protein localized to the transition zone of primary cilia. TMEM107 mutations were found in patients with Joubert and Meckel\u2013Gruber syndromes. A mouse model lacking\n                    <jats:italic>Tmem107<\/jats:italic>\n                    exhibited eye defects such as anophthalmia and microphthalmia, affecting retina differentiation.\n                    <jats:italic>Tmem107<\/jats:italic>\n                    expression during prenatal mouse development correlated with phenotype occurrence, with enhanced expression in differentiating retina and optic stalk. TMEM107 deficiency in retinal organoids resulted in the loss of primary cilia, down-regulation of retina-specific genes, and cyst formation. Knocking out TMEM107 in human ARPE-19 cells prevented primary cilia formation and impaired response to\n                    <jats:italic>Smoothened<\/jats:italic>\n                    agonist treatment because of ectopic activation of the SHH pathway. Our data suggest TMEM107 plays a crucial role in early vertebrate eye development and ciliogenesis in the differentiating retina.\n                  <\/jats:p>","DOI":"10.26508\/lsa.202302073","type":"journal-article","created":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T13:45:30Z","timestamp":1697809530000},"page":"e202302073","update-policy":"https:\/\/doi.org\/10.26508\/lsa.crossmarkpolicy","source":"Crossref","is-referenced-by-count":12,"title":["Role of ciliopathy protein TMEM107 in eye development: insights from a mouse model and retinal organoid"],"prefix":"10.26508","volume":"6","author":[{"given":"Marija","family":"Dubaic","sequence":"first","affiliation":[{"name":"Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic"},{"id":[{"id":"https:\/\/ror.org\/02j46qs45","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Experimental Biology, Faculty of Science, Masaryk University","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Peskova","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02j46qs45","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Histology and Embryology, Faculty of Medicine, Masaryk University","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marek","family":"Hampl","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic"},{"id":[{"id":"https:\/\/ror.org\/02j46qs45","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Experimental Biology, Faculty of Science, Masaryk University","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3023-4751","authenticated-orcid":true,"given":"Kamila","family":"Weissova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic"},{"id":[{"id":"https:\/\/ror.org\/02j46qs45","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Histology and Embryology, Faculty of Medicine, Masaryk University","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Canan","family":"Celiker","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02j46qs45","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Histology and Embryology, Faculty of Medicine, Masaryk University","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia A","family":"Shylo","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University, School of Medicine, New Haven, CT, USA"},{"name":"Stowers Institute for Medical Research, Kansas City, MO, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Hruba","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Kavkova","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03613d656","id-type":"ROR","asserted-by":"publisher"}],"name":"CEITEC - Central European Institute of Technology, Brno University of Technology","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomas","family":"Zikmund","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03613d656","id-type":"ROR","asserted-by":"publisher"}],"name":"CEITEC - Central European Institute of Technology, Brno University of Technology","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0915-1329","authenticated-orcid":true,"given":"Scott D","family":"Weatherbee","sequence":"additional","affiliation":[{"name":"Department of Genetics, Yale University, School of Medicine, New Haven, CT, USA"},{"name":"Biology Department, Fairfield University, Fairfield, CT, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Kaiser","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03613d656","id-type":"ROR","asserted-by":"publisher"}],"name":"CEITEC - Central European Institute of Technology, Brno University of Technology","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0703-066X","authenticated-orcid":true,"given":"Tomas","family":"Barta","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic"},{"id":[{"id":"https:\/\/ror.org\/02j46qs45","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Histology and Embryology, Faculty of Medicine, Masaryk University","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0262-6774","authenticated-orcid":true,"given":"Marcela","family":"Buchtova","sequence":"additional","affiliation":[{"name":"Laboratory of Molecular Morphogenesis, Institute of Animal Physiology and Genetics, Czech Academy of Sciences, Brno, Czech Republic"},{"id":[{"id":"https:\/\/ror.org\/02j46qs45","id-type":"ROR","asserted-by":"publisher"}],"name":"Department of Experimental Biology, Faculty of Science, Masaryk University","place":[", Brno, Czech Republic"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"12380","published-online":{"date-parts":[[2023,10,20]]},"reference":[{"key":"2023102010451051000_6.12.e202302073.1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.2000.2473"},{"key":"2023102010451051000_6.12.e202302073.2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115610"},{"key":"2023102010451051000_6.12.e202302073.3","doi-asserted-by":"publisher","DOI":"10.1038\/srep36625"},{"key":"2023102010451051000_6.12.e202302073.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2020.12.020"},{"key":"2023102010451051000_6.12.e202302073.5","doi-asserted-by":"publisher","DOI":"10.1038\/ng0496-376"},{"key":"2023102010451051000_6.12.e202302073.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2017.07.012"},{"key":"2023102010451051000_6.12.e202302073.7","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2007.03.004"},{"key":"2023102010451051000_6.12.e202302073.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-018-1918-8"},{"key":"2023102010451051000_6.12.e202302073.9","doi-asserted-by":"publisher","DOI":"10.1177\/0022034517732538"},{"key":"2023102010451051000_6.12.e202302073.10","doi-asserted-by":"publisher","DOI":"10.1016\/j.isci.2023.107237"},{"key":"2023102010451051000_6.12.e202302073.11","doi-asserted-by":"publisher","DOI":"10.1016\/bs.ctdb.2014.11.004"},{"key":"2023102010451051000_6.12.e202302073.12","doi-asserted-by":"publisher","DOI":"10.1038\/383407a0"},{"key":"2023102010451051000_6.12.e202302073.13","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-022-00187-9"},{"key":"2023102010451051000_6.12.e202302073.14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.06.008"},{"key":"2023102010451051000_6.12.e202302073.15","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.2005.04537.x"},{"key":"2023102010451051000_6.12.e202302073.16","doi-asserted-by":"publisher","DOI":"10.1038\/nature09941"},{"key":"2023102010451051000_6.12.e202302073.17","doi-asserted-by":"publisher","DOI":"10.1038\/oncsis.2016.72"},{"key":"2023102010451051000_6.12.e202302073.18","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2020.02.016"},{"key":"2023102010451051000_6.12.e202302073.19","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.3088"},{"key":"2023102010451051000_6.12.e202302073.20","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80439-0"},{"key":"2023102010451051000_6.12.e202302073.21","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2005090979"},{"key":"2023102010451051000_6.12.e202302073.22","doi-asserted-by":"publisher","DOI":"10.14348\/molcells.2017.0054"},{"key":"2023102010451051000_6.12.e202302073.23","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2008.09.019"},{"key":"2023102010451051000_6.12.e202302073.24","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku854"},{"key":"2023102010451051000_6.12.e202302073.25","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2014.11.013"},{"key":"2023102010451051000_6.12.e202302073.26","first-page":"299","article-title":"Molecular recapitulation: The growth of the vertebrate retina","volume":"42","author":"Harris","year":"1998","journal-title":"Int J Dev Biol"},{"key":"2023102010451051000_6.12.e202302073.27","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00244"},{"key":"2023102010451051000_6.12.e202302073.28","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a008391"},{"key":"2023102010451051000_6.12.e202302073.29","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2019.09.010"},{"key":"2023102010451051000_6.12.e202302073.30","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0505328102"},{"key":"2023102010451051000_6.12.e202302073.31","doi-asserted-by":"publisher","DOI":"10.1038\/nature02061"},{"key":"2023102010451051000_6.12.e202302073.32","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.58"},{"key":"2023102010451051000_6.12.e202302073.33","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00048-15"},{"key":"2023102010451051000_6.12.e202302073.34","doi-asserted-by":"publisher","DOI":"10.1186\/s13630-015-0021-1"},{"key":"2023102010451051000_6.12.e202302073.35","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.13.2521"},{"key":"2023102010451051000_6.12.e202302073.36","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainresbull.2007.10.046"},{"key":"2023102010451051000_6.12.e202302073.37","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms7286"},{"key":"2023102010451051000_6.12.e202302073.38","doi-asserted-by":"publisher","DOI":"10.1038\/ncb3273"},{"key":"2023102010451051000_6.12.e202302073.39","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e3283444d05"},{"key":"2023102010451051000_6.12.e202302073.40","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2017.10.022"},{"key":"2023102010451051000_6.12.e202302073.41","doi-asserted-by":"publisher","DOI":"10.1007\/s10735-020-09876-7"},{"key":"2023102010451051000_6.12.e202302073.42","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1972.01000030108028"},{"key":"2023102010451051000_6.12.e202302073.43","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2014.297"},{"key":"2023102010451051000_6.12.e202302073.44","doi-asserted-by":"publisher","DOI":"10.1002\/dvg.22957"},{"key":"2023102010451051000_6.12.e202302073.45","doi-asserted-by":"publisher","DOI":"10.1242\/dev.055178"},{"key":"2023102010451051000_6.12.e202302073.46","doi-asserted-by":"publisher","DOI":"10.1101\/gad.12.6.776"},{"key":"2023102010451051000_6.12.e202302073.47","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-52294-3"},{"key":"2023102010451051000_6.12.e202302073.48","doi-asserted-by":"publisher","DOI":"10.1002\/stem.3272"},{"key":"2023102010451051000_6.12.e202302073.49","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1011410108"},{"key":"2023102010451051000_6.12.e202302073.50","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-4695(199808)36:2<206::AID-NEU8>3.0.CO;2-5"},{"key":"2023102010451051000_6.12.e202302073.51","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.E03-05-0296"},{"key":"2023102010451051000_6.12.e202302073.52","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv242"},{"key":"2023102010451051000_6.12.e202302073.53","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22925"},{"key":"2023102010451051000_6.12.e202302073.54","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2019.12.014"},{"key":"2023102010451051000_6.12.e202302073.55","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.176065"},{"key":"2023102010451051000_6.12.e202302073.56","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1644"},{"key":"2023102010451051000_6.12.e202302073.57","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2003.12.007"},{"key":"2023102010451051000_6.12.e202302073.58","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1407906"},{"key":"2023102010451051000_6.12.e202302073.59","doi-asserted-by":"publisher","DOI":"10.1126\/science.287.5460.2032"},{"key":"2023102010451051000_6.12.e202302073.60","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/15.1.1"},{"key":"2023102010451051000_6.12.e202302073.61","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-010-1731-7"},{"key":"2023102010451051000_6.12.e202302073.62","doi-asserted-by":"publisher","DOI":"10.4161\/org.26710"},{"key":"2023102010451051000_6.12.e202302073.63","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2018.00008"},{"key":"2023102010451051000_6.12.e202302073.64","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2019.02.018"},{"key":"2023102010451051000_6.12.e202302073.65","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022161"},{"key":"2023102010451051000_6.12.e202302073.66","doi-asserted-by":"publisher","DOI":"10.3390\/cells10061428"},{"key":"2023102010451051000_6.12.e202302073.67","doi-asserted-by":"publisher","DOI":"10.4252\/wjsc.v6.i3.305"},{"key":"2023102010451051000_6.12.e202302073.68","doi-asserted-by":"publisher","DOI":"10.1016\/j.mod.2009.10.006"}],"container-title":["Life Science Alliance"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.26508\/lsa.202302073","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T09:08:23Z","timestamp":1704877703000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.life-science-alliance.org\/lookup\/doi\/10.26508\/lsa.202302073"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,20]]},"references-count":68,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2023,10,20]]},"published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.26508\/lsa.202302073"],"URL":"https:\/\/doi.org\/10.26508\/lsa.202302073","relation":{},"ISSN":["2575-1077"],"issn-type":[{"value":"2575-1077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,20]]}}}