2017
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Aung T, Ozaki M, Lee MC, Schlötzer-Schrehardt U, Thorleifsson G, Mizoguchi T, Igo RP, Haripriya A, Williams SE, Astakhov YS, Orr AC, Burdon KP, Nakano S, Mori K, Abu-Amero K, Hauser M, Li Z, Prakadeeswari G, Bailey JNC, Cherecheanu AP, Kang JH, Nelson S, Hayashi K, Manabe SI, Kazama S, Zarnowski T, Inoue K, Irkec M, Coca-Prados M, Sugiyama K, Järvelä I, Schlottmann P, Lerner SF, Lamari H, Nilgün Y, Bikbov M, Park KH, Cha SC, Yamashiro K, Zenteno JC, Jonas JB, Kumar RS, Perera SA, Chan ASY, Kobakhidze N, George R, Vijaya L, Do T, Edward DP, de Juan Marcos L, Pakravan M, Moghimi S, Ideta R, Bach-Holm D, Kappelgaard P, Wirostko B, Thomas S, Gaston D, Bedard K, Greer WL, Yang Z, Chen X, Huang L, Sang J, Jia H, Jia L, Qiao C, Zhang H, Liu X, Zhao B, Wang YX, Xu L, Leruez S, Reynier P, Chichua G, Tabagari S, Uebe S, Zenkel M, Berner D, Mossböck G, Weisschuh N, Hoja U, Welge-Luessen UC, Mardin C, Founti P, Chatzikyriakidou A, Pappas T, Anastasopoulos E, Lambropoulos A, Ghosh A, Shetty R, Porporato N, Saravanan V, Venkatesh R, Shivkumar C, Kalpana N, Sarangapani S, Kanavi MR, Beni AN, Yazdani S, lashay A, Naderifar H, Khatibi N, Fea A, Lavia C, Dallorto L, Rolle T, Frezzotti P, Paoli D, Salvi E, Manunta P, Mori Y, Miyata K, Higashide T, Chihara E, Ishiko S, Yoshida A, Yanagi M, Kiuchi Y, Ohashi T, Sakurai T, Sugimoto T, Chuman H, Aihara M, Inatani M, Miyake M, Gotoh N, Matsuda F, Yoshimura N, Ikeda Y, Ueno M, Sotozono C, Jeoung JW, Sagong M, Park KH, Ahn J, Cruz-Aguilar M, Ezzouhairi SM, Rafei A, Chong YF, Ng XY, Goh SR, Chen Y, Yong VHK, Khan MI, Olawoye OO, Ashaye AO, Ugbede I, Onakoya A, Kizor-Akaraiwe N, Teekhasaenee C, Suwan Y, Supakontanasan W, Okeke S, Uche NJ, Asimadu I, Ayub H, Akhtar F, Kosior-Jarecka E, Lukasik U, Lischinsky I, Castro V, Grossmann RP, Megevand GS, Roy S, Dervan E, Silke E, Rao A, Sahay P, Fornero P, Cuello O, Sivori D, Zompa T, Mills RA, Souzeau E, Mitchell P, Wang JJ, Hewitt AW, Coote M, Crowston JG, Astakhov SY, Akopov EL, Emelyanov A, Vysochinskaya V, Kazakbaeva G, Fayzrakhmanov R, Al-Obeidan SA, Owaidhah O, Aljasim LA, Chowbay B, Foo JN, Soh RQ, Sim KS, Xie Z, Cheong AWO, Mok SQ, Soo HM, Chen XY, Peh SQ, Heng KK, Husain R, Ho SL, Hillmer AM, Cheng CY, Escudero-Domínguez FA, González-Sarmiento R, Martinon-Torres F, Salas A, Pathanapitoon K, Hansapinyo L, Wanichwecharugruang B, Kitnarong N, Sakuntabhai A, Nguyn HX, Nguyn GTT, Nguyn TV, Zenz W, Binder A, Klobassa DS, Hibberd ML, Davila S, Herms S, Nöthen MM, Moebus S, Rautenbach RM, Ziskind A, Carmichael TR, Ramsay M, Álvarez L, García M, González-Iglesias H, Rodríguez-Calvo PP, Fernández-Vega Cueto L, Oguz Ç, Tamcelik N, Atalay E, Batu B, Aktas D, Kasım B, Wilson MR, Coleman AL, Liu Y, Challa P, Herndon L, Kuchtey RW, Kuchtey J, Curtin K, Chaya CJ, Crandall A, Zangwill LM, Wong TY, Nakano M, Kinoshita S, den Hollander AI, Vesti E, Fingert JH, Lee RK, Sit AJ, Shingleton BJ, Wang N, Cusi D, Qamar R, Kraft P, Pericak-Vance MA, Raychaudhuri S, Heegaard S, Kivelä T, Reis A, Kruse FE, Weinreb RN, Pasquale LR, Haines JL, Thorsteinsdottir U, Jonasson F, Allingham RR, Milea D, Ritch R, Kubota T, Tashiro K, Vithana EN, Micheal S, Topouzis F, Craig JE, Dubina M, Sundaresan P, Stefansson K, Wiggs JL, Pasutto F, Khor CC. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci. Nature Genetics 2017, 49: 993-1004. PMID: 28553957, PMCID: PMC6685441, DOI: 10.1038/ng.3875.Peer-Reviewed Original ResearchMeSH KeywordsAged, 80 and overAllelesAmino Acid OxidoreductasesAmino Acid SubstitutionAsian PeopleCalcium ChannelsCell AdhesionExfoliation SyndromeExtracellular MatrixEyeFemaleGene Expression ProfilingGenetic Predisposition to DiseaseGenome-Wide Association StudyHaplotypesHumansMaleMolecular ChaperonesMutation, MissensePoint MutationRNA, MessengerSpheroids, CellularConceptsGlobal genome-wide association studyAssociation studiesSusceptibility lociGenome-wide association studiesProtective rare variantsDisease-associated lociNew susceptibility lociFine-mapping analysisGenetic association studiesRare protective variantsLociProtective variantsRare variantsLOXL1VariantsWiggJapanese populationWhole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development
Ferre-Fernández JJ, Aroca-Aguilar JD, Medina-Trillo C, Bonet-Fernández JM, Méndez-Hernández CD, Morales-Fernández L, Corton M, Cabañero-Valera MJ, Gut M, Tonda R, Ayuso C, Coca-Prados M, García-Feijoo J, Escribano J. Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development. Scientific Reports 2017, 7: 46175. PMID: 28397860, PMCID: PMC5387416, DOI: 10.1038/srep46175.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCarrier ProteinsChromosome SegregationEmbryo, NonmammalianExome SequencingEyeFaceFamilyFemaleGene Expression Regulation, DevelopmentalGene Knockdown TechniquesGlaucomaHumansMaleMiddle AgedMutationOrgan SpecificityPedigreePhenotypePromoter Regions, GeneticReceptors, CXCR4SkullSubcellular FractionsTranscriptional ActivationZebrafishConceptsNew genesZebrafish embryosCraniofacial developmentEarly zebrafish embryosNeural crest cell migrationCrest cell migrationNew disease genesMesenchymal-like cellsHigh genetic heterogeneityUnidentified functionTransient overexpressionProximal promoterDisease genesGene Pitx2Whole-exome sequencingGenesCell migrationGenetic heterogeneityExome sequencingSkeletal muscleRare variantsCraniofacial abnormalitiesEmbryosSequencingProtein
2013
Metallothioneins (MTs) in the human eye: a perspective article on the zinc–MT redox cycle
Gonzalez-Iglesias H, Alvarez L, García M, Petrash C, Sanz-Medel A, Coca-Prados M. Metallothioneins (MTs) in the human eye: a perspective article on the zinc–MT redox cycle. Metallomics 2013, 6: 201-208. PMID: 24419560, DOI: 10.1039/c3mt00298e.Peer-Reviewed Original ResearchConceptsCellular zinc homeostasisOxidative damageAntioxidant functionMT genesMultiple isoformsReactive oxygen speciesPotential oxidative damageDe novo synthesisZinc homeostasisAntioxidant defense mechanismsMain regulatorDefense mechanismsNovo synthesisProtein expressionOxygen speciesExogenous zincZn7-MTMetallothioneinOxidative stressMT complexZinc releaseStoichiometric transitionsZinc-MTPro-inflammatory cytokinesLevels of metallothioneinGold internal standard correction for elemental imaging of soft tissue sections by LA-ICP-MS: element distribution in eye microstructures
Konz I, Fernández B, Fernández ML, Pereiro R, González H, Álvarez L, Coca-Prados M, Sanz-Medel A. Gold internal standard correction for elemental imaging of soft tissue sections by LA-ICP-MS: element distribution in eye microstructures. Analytical And Bioanalytical Chemistry 2013, 405: 3091-3096. PMID: 23380953, DOI: 10.1007/s00216-013-6778-4.Peer-Reviewed Original ResearchConceptsElemental imagingInternal standardPlasma mass spectrometryInternal standard correctionMass spectrometryThin gold filmAnalytical potentialSample preparationInternal normalisationGold filmElement distributionLA-ICPLaser ablationCu distributionTrace element distributionGreat practical interestDonorsSpectrometry
2012
The Stoichiometric Transition from Zn6Cu1-Metallothionein to Zn7-Metallothionein Underlies the Up-regulation of Metallothionein (MT) Expression QUANTITATIVE ANALYSIS OF MT-METAL LOAD IN EYE CELLS*
Alvarez L, Gonzalez-Iglesias H, Garcia M, Ghosh S, Sanz-Medel A, Coca-Prados M. The Stoichiometric Transition from Zn6Cu1-Metallothionein to Zn7-Metallothionein Underlies the Up-regulation of Metallothionein (MT) Expression QUANTITATIVE ANALYSIS OF MT-METAL LOAD IN EYE CELLS*. Journal Of Biological Chemistry 2012, 287: 28456-28469. PMID: 22722935, PMCID: PMC3436589, DOI: 10.1074/jbc.m112.365015.Peer-Reviewed Original ResearchConceptsInflammatory eye diseaseRetinal ganglion cellsPresence of TNFαCorneal epithelial cell lineInflammatory cytokinesProinflammatory cytokinesEpithelial cell lineSynthesis of metallothioneinGanglion cellsEye diseaseLevels of metallothioneinCorneal tissueCombination of zincEndothelial cellsCytokinesMT1 isoformsIL1αEffect of zincGene expressionCadaver eyesConcentration of metallothioneinEye cellsMicroarray-based analysisZinc exposureMT isoforms
2003
Sex steroid hormone metabolism takes place in human ocular cells
Coca-Prados M, Ghosh S, Wang Y, Escribano J, Herrala A, Vihko P. Sex steroid hormone metabolism takes place in human ocular cells. The Journal Of Steroid Biochemistry And Molecular Biology 2003, 86: 207-216. PMID: 14568574, DOI: 10.1016/j.jsbmb.2003.08.001.Peer-Reviewed Original ResearchConceptsSex steroid hormone metabolismCiliary epitheliumHuman ocular cellsSex steroid hormonesHuman ciliary epithelial cellsSteroid hormone metabolismAndrogen agonistsCiliary epithelial cellsEstrogenic milieuOcular diseasesOcular cellsSteroid hormonesMRNA expressionImportant mediatorOxidative enzymatic activityHuman ciliary epitheliumGene expressionEpithelial cellsHormone metabolismHormone-responsive genesSecretory epitheliumEpitheliumH time courseCell linesTime course
1999
Functional Expression of Components of the Natriuretic Peptide System in Human Ocular Nonpigmented Ciliary Epithelial Cells
Ortego J, Coca-Prados M. Functional Expression of Components of the Natriuretic Peptide System in Human Ocular Nonpigmented Ciliary Epithelial Cells. Biochemical And Biophysical Research Communications 1999, 258: 21-28. PMID: 10222228, DOI: 10.1006/bbrc.1999.0573.Peer-Reviewed Original ResearchConceptsNatriuretic peptide systemNPR-B receptorNPR-C receptorCiliary epithelial cellsReceptor mRNACiliary epitheliumEpithelial cellsNPE cellsCGMP responseAutocrine/paracrine modulatorPeptide systemHuman ocular ciliary epitheliumNonpigmented ciliary epithelial cellsOcular ciliary epitheliumCultured NPE cellsLong-term downregulationC-ANP4Paracrine modulatorEye pressureBNPActivation of PKCBasal levelsInhibitory effectRT-PCRReceptors
1998
Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1
Stoilov I, Akarsu A, Alozie I, Child A, Barsoum-Homsy M, Turacli M, Or M, Lewis R, Ozdemir N, Brice G, Aktan S, Chevrette L, Coca-Prados M, Sarfarazi M. Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1. American Journal Of Human Genetics 1998, 62: 573-584. PMID: 9497261, PMCID: PMC1376958, DOI: 10.1086/301764.Peer-Reviewed Original Research
1997
Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin
Ortego J, Escribano J, Coca-Prados M. Cloning and characterization of subtracted cDNAs from a human ciliary body library encoding TIGR, a protein involved in juvenile open angle glaucoma with homology to myosin and olfactomedin. FEBS Letters 1997, 413: 349-353. PMID: 9280311, DOI: 10.1016/s0014-5793(97)00934-4.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceCiliary BodyCloning, MolecularCytoskeletal ProteinsDNA, ComplementaryExtracellular Matrix ProteinsEyeEye ProteinsGene LibraryGlaucoma, Open-AngleGlycoproteinsHumansMolecular Sequence DataMyosinsOrgan SpecificityRNA, MessengerSequence Homology, Amino AcidSequence Homology, Nucleic AcidThe prostaglandin transporter is widely expressed in ocular tissues
Schuster V, Lu R, Coca-Prados M. The prostaglandin transporter is widely expressed in ocular tissues. Survey Of Ophthalmology 1997, 41: s41-s45. PMID: 9154275, DOI: 10.1016/s0039-6257(97)80006-9.Peer-Reviewed Original Research
1993
Cloning of the Bovine Plasma Selenium-Dependent Glutathione Peroxidase (GP) cDNA from the Ocular Ciliary Epithelium: Expression of the Plasma and Cellular Forms within the Mammalian Eye1
Martín-Alonso J, Ghosh S, Coca-Prados M. Cloning of the Bovine Plasma Selenium-Dependent Glutathione Peroxidase (GP) cDNA from the Ocular Ciliary Epithelium: Expression of the Plasma and Cellular Forms within the Mammalian Eye1. The Journal Of Biochemistry 1993, 114: 284-291. PMID: 8262911, DOI: 10.1093/oxfordjournals.jbchem.a124168.Peer-Reviewed Original ResearchConceptsOcular ciliary epitheliumGlutathione peroxidase cDNAMammalian eyeCorresponding amino acid sequencesDifferential gene expressionOpen reading frameAmino acid sequenceBovine glutathione peroxidasePeroxidase cDNAMolecular cloningOverall identityReading frameHuman GPxAcid sequenceGene expressionCellular formCiliary epitheliumFunctional roleAmino acidsTranscriptsOxidative damageGlutathione peroxidaseCloningOxidative stressExpression