{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T20:12:19Z","timestamp":1791317539885,"version":"4.3.1"},"reference-count":42,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T00:00:00Z","timestamp":1589414400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Instituto de Salud Carlos III\/European Regional Development Fund (ERDF)","award":["PI15\/01193"],"award-info":[{"award-number":["PI15\/01193"]}]},{"name":"Instituto de Salud Carlos III\/European Regional Development Fund (ERDF)","award":["PI19\/00208"],"award-info":[{"award-number":["PI19\/00208"]}]},{"name":"Instituto de Salud Carlos III\/European Regional Development Fund (ERDF)","award":["RD16\/0008\/0019, OFTARED"],"award-info":[{"award-number":["RD16\/0008\/0019, OFTARED"]}]},{"DOI":"10.13039\/501100011698","name":"Junta de Comunidades de Castilla-La Mancha","doi-asserted-by":"publisher","award":["SBPLY\/17\/180501\/000404"],"award-info":[{"award-number":["SBPLY\/17\/180501\/000404"]}],"id":[{"id":"10.13039\/501100011698","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100011698","name":"Junta de Comunidades de Castilla-La Mancha","doi-asserted-by":"publisher","award":["PREJCCM2016\/28"],"award-info":[{"award-number":["PREJCCM2016\/28"]}],"id":[{"id":"10.13039\/501100011698","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Primary congenital glaucoma (PCG) is a heterogeneous, inherited, and severe optical neuropathy caused by apoptotic degeneration of the retinal ganglion cell layer. Whole-exome sequencing analysis of one PCG family identified two affected siblings who carried a low-frequency homozygous nonsense GUCA1C variant (c.52G &gt; T\/p.Glu18Ter\/rs143174402). This gene encodes GCAP3, a member of the guanylate cyclase activating protein family, involved in phototransduction and with a potential role in intraocular pressure regulation. Segregation analysis supported the notion that the variant was coinherited with the disease in an autosomal recessive fashion. GCAP3 was detected immunohistochemically in the adult human ocular ciliary epithelium and retina. To evaluate the ocular effect of GUCA1C loss-of-function, a guca1c knockout zebrafish line was generated by CRISPR\/Cas9 genome editing. Immunohistochemistry demonstrated the presence of GCAP3 in the non-pigmented ciliary epithelium and retina of adult wild-type fishes. Knockout animals presented up-regulation of the glial fibrillary acidic protein in M\u00fcller cells and evidence of retinal ganglion cell apoptosis, indicating the existence of gliosis and glaucoma-like retinal damage. In summary, our data provide evidence for the role of GUCA1C as a candidate gene in PCG and offer new insights into the function of this gene in the ocular anterior segment and the retina.<\/jats:p>","DOI":"10.3390\/genes11050550","type":"journal-article","created":{"date-parts":[[2020,5,14]],"date-time":"2020-05-14T10:27:19Z","timestamp":1589452039000},"page":"550","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish"],"prefix":"10.3390","volume":"11","author":[{"given":"Samuel","family":"Morales-C\u00e1mara","sequence":"first","affiliation":[{"name":"\u00c1rea de Gen\u00e9tica, Facultad de Medicina de Albacete\/Instituto de Investigaci\u00f3n en Discapacidades Neurol\u00f3gicas (IDINE), Universidad de Castilla-La Mancha, 02006 Albacete, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Alexandre-Moreno","sequence":"additional","affiliation":[{"name":"\u00c1rea de Gen\u00e9tica, Facultad de Medicina de Albacete\/Instituto de Investigaci\u00f3n en Discapacidades Neurol\u00f3gicas (IDINE), Universidad de Castilla-La Mancha, 02006 Albacete, Spain"},{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan-Manuel","family":"Bonet-Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"\u00c1rea de Gen\u00e9tica, Facultad de Medicina de Albacete\/Instituto de Investigaci\u00f3n en Discapacidades Neurol\u00f3gicas (IDINE), Universidad de Castilla-La Mancha, 02006 Albacete, Spain"},{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Atienzar-Aroca","sequence":"additional","affiliation":[{"name":"\u00c1rea de Gen\u00e9tica, Facultad de Medicina de Albacete\/Instituto de Investigaci\u00f3n en Discapacidades Neurol\u00f3gicas (IDINE), Universidad de Castilla-La Mancha, 02006 Albacete, Spain"},{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6487-1612","authenticated-orcid":false,"given":"Jos\u00e9-Daniel","family":"Aroca-Aguilar","sequence":"additional","affiliation":[{"name":"\u00c1rea de Gen\u00e9tica, Facultad de Medicina de Albacete\/Instituto de Investigaci\u00f3n en Discapacidades Neurol\u00f3gicas (IDINE), Universidad de Castilla-La Mancha, 02006 Albacete, Spain"},{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9511-2894","authenticated-orcid":false,"given":"Jes\u00fas-Jos\u00e9","family":"Ferre-Fern\u00e1ndez","sequence":"additional","affiliation":[{"name":"\u00c1rea de Gen\u00e9tica, Facultad de Medicina de Albacete\/Instituto de Investigaci\u00f3n en Discapacidades Neurol\u00f3gicas (IDINE), Universidad de Castilla-La Mancha, 02006 Albacete, Spain"},{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmen-Dora","family":"M\u00e9ndez","sequence":"additional","affiliation":[{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Servicio de Oftalmolog\u00eda, Hospital San Carlos, 28040 Madrid, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Hospital Cl\u00ednico San Carlos, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Morales","sequence":"additional","affiliation":[{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Servicio de Oftalmolog\u00eda, Hospital San Carlos, 28040 Madrid, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Hospital Cl\u00ednico San Carlos, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3629-0156","authenticated-orcid":false,"given":"Laura","family":"Fern\u00e1ndez-S\u00e1nchez","sequence":"additional","affiliation":[{"name":"Department of Optics, Pharmacology and Anatomy, University of Alicante, 03690 Alicante, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6767-5710","authenticated-orcid":false,"given":"Nicolas","family":"Cuenca","sequence":"additional","affiliation":[{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Department of Physiology, Genetics and Microbiology, University of Alicante, 03690 Alicante, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Coca-Prados","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, CT 06510, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9-Mar\u00eda","family":"Mart\u00ednez-de-la-Casa","sequence":"additional","affiliation":[{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Servicio de Oftalmolog\u00eda, Hospital San Carlos, 28040 Madrid, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Hospital Cl\u00ednico San Carlos, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juli\u00e1n","family":"Garcia-Feijoo","sequence":"additional","affiliation":[{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Servicio de Oftalmolog\u00eda, Hospital San Carlos, 28040 Madrid, Spain"},{"name":"Instituto de Investigaci\u00f3n Sanitaria del Hospital Cl\u00ednico San Carlos, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8919-8134","authenticated-orcid":false,"given":"Julio","family":"Escribano","sequence":"additional","affiliation":[{"name":"\u00c1rea de Gen\u00e9tica, Facultad de Medicina de Albacete\/Instituto de Investigaci\u00f3n en Discapacidades Neurol\u00f3gicas (IDINE), Universidad de Castilla-La Mancha, 02006 Albacete, Spain"},{"name":"Cooperative Research Network on Age-Related Ocular Pathology, Visual and Life Quality (OFTARED), Instituto de Salud Carlos III, 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,5,14]]},"reference":[{"key":"ref_1","unstructured":"Weinreb, R.N., Grajewski, A.L., Papadopoulos, M., Grigg, J., and Freedman, S. (2013). Primary congenital glaucoma and juvenile open-angle glaucoma. Childhood Glaucoma, Kluger Publications."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1159\/000309028","article-title":"Congenital glaucoma and its inheritance","volume":"181","author":"Francois","year":"1980","journal-title":"Ophthalmologica"},{"key":"ref_3","first-page":"76","article-title":"Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance","volume":"16","author":"Gencik","year":"1989","journal-title":"Dev. Ophthalmol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1136\/bjo.77.7.413","article-title":"Congenital glaucoma in the West Bank and Gaza Strip","volume":"77","author":"Elder","year":"1993","journal-title":"Br. J. Ophthalmol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1038\/eye.2000.126","article-title":"Molecular genetics of primary congenital glaucoma","volume":"14","author":"Sarfarazi","year":"2000","journal-title":"Eye"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1016\/j.ajo.2008.11.008","article-title":"A clinical and molecular genetic study of German patients with primary congenital glaucoma","volume":"147","author":"Weisschuh","year":"2009","journal-title":"Am. J. Ophthalmol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"496","DOI":"10.1002\/humu.9197","article-title":"Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France","volume":"22","author":"Colomb","year":"2003","journal-title":"Hum. Mutat."},{"key":"ref_8","first-page":"417","article-title":"CYP1B1 mutations in Spanish patients with primary congenital glaucoma: Phenotypic and functional variability","volume":"15","author":"Peralta","year":"2009","journal-title":"Mol. Vis."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"716","DOI":"10.1016\/j.ophtha.2012.09.016","article-title":"Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma","volume":"120","author":"Escribano","year":"2013","journal-title":"Ophthalmology"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"664","DOI":"10.1016\/j.ajhg.2009.03.017","article-title":"Null mutations in LTBP2 cause primary congenital glaucoma","volume":"84","author":"Ali","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"3969","DOI":"10.1093\/hmg\/ddp338","article-title":"Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma","volume":"18","author":"Paylakhi","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"326","DOI":"10.1038\/ejhg.2010.181","article-title":"LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma\/Gypsy founder population","volume":"19","author":"Azmanov","year":"2011","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"2575","DOI":"10.1172\/JCI85830","article-title":"Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity","volume":"126","author":"Souma","year":"2016","journal-title":"J. Clin. Investig."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"46175","DOI":"10.1038\/srep46175","article-title":"Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development","volume":"7","author":"Corton","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1111\/j.1399-0004.2005.00411.x","article-title":"Myocilin gene implicated in primary congenital glaucoma","volume":"67","author":"Kaur","year":"2005","journal-title":"Clin. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1086\/338709","article-title":"Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene","volume":"70","author":"Vincent","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Medina-Trillo, C., S\u00e1nchez-S\u00e1nchez, F., Aroca-Aguilar, J.D., Ferre-Fern\u00e1ndez, J.J., Morales, L., M\u00e9ndez-Hern\u00e1ndez, C.D., Blanco-Kelly, F., Ayuso, C., Garc\u00eda-Feijoo, J., and Escribano, J. (2015). Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: Transactivation and phenotypic variability. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0119272"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1038\/ejhg.2015.169","article-title":"Rare FOXC1 variants in congenital glaucoma: Identification of translation regulatory sequences","volume":"24","author":"Morales","year":"2016","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Siggs, O.M., Souzeau, E., Taranath, D.A., Dubowsky, A., Chappell, A., Zhou, T., Javadiyan, S., Nicholl, J., Kearns, L.S., and Staffieri, S.E. (2020). Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma. Ophthalmology.","DOI":"10.1016\/j.ophtha.2019.12.024"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Bonet-Fern\u00e1ndez, J.M., Aroca-Aguilar, J.D., Corton, M., Ram\u00edrez, A.I., Alexandre-Moreno, S., Garc\u00eda-Ant\u00f3n, M.T., Salazar, J.J., Ferre-Fern\u00e1ndez, J.J., Atienzar-Aroca, R., and Villaverde, C. (2020). CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix. Hum. Genet.","DOI":"10.1007\/s00439-020-02164-0"},{"key":"ref_21","first-page":"2759","article-title":"Gene expression of the neurotrophic pigment epithelium-derived factor in the human ciliary epithelium\u2014Synthesis and secretion into the aqueous humor","volume":"37","author":"Ortego","year":"1996","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_22","unstructured":"Westerfield, M. (2000). The Zebrafish Book: A Guide for the Laboratory Use of Zebrafish (Danio rerio), University of Oregon Press. [5th ed.]."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e54385","DOI":"10.1371\/journal.pone.0054385","article-title":"Bicarbonate-Dependent Secretion and Proteolytic Processing of Recombinant Myocilin","volume":"8","author":"Pintor","year":"2013","journal-title":"PLoS ONE"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"610","DOI":"10.2144\/000112619","article-title":"Method for isolation of PCR-ready genomic DNA from zebrafish tissues","volume":"43","author":"Meeker","year":"2007","journal-title":"Biotechniques"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1159\/000335866","article-title":"Guanylate cyclase activators, cell volume changes and IOP reduction","volume":"28","author":"Ellis","year":"2011","journal-title":"Cell Physiol. Biochem."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"38","DOI":"10.3389\/fnmol.2014.00038","article-title":"Regulation of intraocular pressure by soluble and membrane guanylate cyclases and their role in glaucoma","volume":"7","author":"Buys","year":"2014","journal-title":"Front. Mol. Neurosci."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1007\/s00239-004-2614-y","article-title":"Diversity of guanylate cyclase-activating proteins (GCAPs) in teleost fish: Characterization of three novel GCAPs (GCAP4, GCAP5, GCAP7) from zebrafish (Danio rerio) and prediction of eight GCAPs (GCAP1-8) in pufferfish (Fugu rubripes)","volume":"59","author":"Imanishi","year":"2004","journal-title":"J. Mol. Evol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.1016\/j.bbamcr.2008.12.021","article-title":"Expression profiles of three novel sensory guanylate cyclases and guanylate cyclase-activating proteins in the zebrafish retina","volume":"1793","author":"Scholten","year":"2009","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Fries, R., Scholten, A., S\u00e4ftel, W., and Koch, K.W. (2013). Zebrafish guanylate cyclase type 3 signaling in cone photoreceptors. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0069656"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"4673","DOI":"10.1093\/nar\/22.22.4673","article-title":"CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice","volume":"22","author":"Thompson","year":"1994","journal-title":"Nucleic Acids Res."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1046\/j.0953-816x.2001.01835.x","article-title":"Characterization of retinal guanylate cyclase-activating protein 3 (GCAP3) from zebrafish to man","volume":"15","author":"Imanishi","year":"2002","journal-title":"Eur. J. Neurosci."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"6526","DOI":"10.1074\/jbc.274.10.6526","article-title":"Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily","volume":"274","author":"Haeseleer","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_34","first-page":"1243","article-title":"The localization of guanylyl cyclase-activating proteins in the mammalian retina","volume":"39","author":"Cuenca","year":"1998","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1016\/j.bbrc.2004.07.122","article-title":"Guanylate cyclase-activating proteins: Structure, function, and diversity","volume":"322","author":"Palczewski","year":"2004","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_36","first-page":"65","article-title":"Soluble Guanylate Cyclase a1-Deficient Mice: A novel murine model for Primary Open Angle Glaucoma","volume":"20","author":"Buys","year":"2013","journal-title":"Ann. Neurosci."},{"key":"ref_37","doi-asserted-by":"crossref","unstructured":"Buch, P.K., Mihelec, M., Cottrill, P., Wilkie, S.E., Pearson, R.A., Duran, Y., West, E.L., Michaelides, M., Ali, R.R., and Hunt, D.M. (2011). Dominant cone-rod dystrophy: A mouse model generated by gene targeting of the GCAP1\/Guca1a gene. PLoS ONE, 6.","DOI":"10.1371\/journal.pone.0018089"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1442","DOI":"10.1016\/j.ophtha.2005.02.024","article-title":"Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy","volume":"112","author":"Michaelides","year":"2005","journal-title":"Ophthalmology"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/S0968-0004(98)01208-0","article-title":"A rule for termination-codon position within intron-containing genes: When nonsense affects RNA abundance","volume":"23","author":"Nagy","year":"1998","journal-title":"Trends Biochem. Sci."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1038\/nsmb.1550","article-title":"Nonsense-mediated mRNA decay (NMD) mechanisms","volume":"16","author":"Brogna","year":"2009","journal-title":"Nat. Struct. Mol. Biol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1002\/humu.20763","article-title":"A meta-analysis of nonsense mutations causing human genetic disease","volume":"29","author":"Mort","year":"2008","journal-title":"Hum. Mutat."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.preteyeres.2006.05.003","article-title":"M\u00fcller cells in the healthy and diseased retina","volume":"25","author":"Bringmann","year":"2006","journal-title":"Prog. Retin. Eye Res."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/5\/550\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T09:28:42Z","timestamp":1760174922000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/11\/5\/550"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,14]]},"references-count":42,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2020,5]]}},"alternative-id":["genes11050550"],"URL":"https:\/\/doi.org\/10.3390\/genes11050550","relation":{"has-preprint":[{"id-type":"doi","id":"10.20944\/preprints202003.0424.v1","asserted-by":"object"}]},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,14]]}}}