2017
Whole-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
2007
Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.
López-Martínez F, López-Garrido M, Sánchez-Sánchez F, Campos-Mollo E, Coca-Prados M, Escribano J. Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma. Molecular Vision 2007, 13: 862-72. PMID: 17615537, PMCID: PMC2770203.Peer-Reviewed Original ResearchMeSH KeywordsAge of OnsetAmino Acid SequenceCell Cycle ProteinsCell LineCytoskeletal ProteinsExonsEye ProteinsFemaleGene FrequencyGenome, HumanGlaucoma, Open-AngleGlycoproteinsHaplotypesHumansLinkage DisequilibriumMaleMembrane Transport ProteinsMiddle AgedMolecular Sequence DataMutationOcular HypertensionOpen Reading FramesPhenotypePolymorphism, Single-Stranded ConformationalPromoter Regions, GeneticSpainTranscription Factor TFIIIAWhite PeopleConceptsPrimary open-angle glaucomaOcular hypertensionOpen-angle glaucomaPOAG patientsSpanish patientsSequence variationExons of myocilinHeterozygous disease-causing mutationsPathogenic mutationsSingle nucleotide polymorphismsPromoter regionRole of myocilinDNA sequence variationPolymorphic GT microsatelliteCommon single nucleotide polymorphismsPCR-DNA sequencingT cellsComplete coding regionPatientsUnrelated patientsMYOC geneOPTN geneGlaucomaDisease-causing mutationsGT microsatellite
2006
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
López-Garrido MP, Sánchez-Sánchez F, López-Martínez F, Aroca-Aguilar JD, Blanco-Marchite C, Coca-Prados M, Escribano J. Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma. Molecular Vision 2006, 12: 748-55. PMID: 16862072.Peer-Reviewed Original ResearchMeSH KeywordsAgedAmino Acid SubstitutionAryl Hydrocarbon HydroxylasesCase-Control StudiesConserved SequenceCytochrome P-450 CYP1B1Cytochrome P-450 Enzyme SystemFemaleGene FrequencyGenetic Predisposition to DiseaseGenotypeGlaucoma, Open-AngleHeterozygoteHumansMaleMiddle AgedMutationMutation, MissenseOcular HypertensionPhenotypeSpainConceptsPrimary open-angle glaucomaOcular hypertensionOpen-angle glaucomaCYP1B1 gene mutationsGlaucoma patientsSpanish patientsDevelopment of POAGGene mutationsUnrelated Spanish subjectsOHT subjectsPCR-DNA sequencingPOAG patientsAngle glaucomaPatientsCYP1B1 mutationsGlaucomaSpanish populationSpanish subjectsMissense mutationsDifferent mutationsSignificant changesAmino acid substitutionsSubjectsMutationsAcid substitutions
2005
Myocilin Mutations Causing Glaucoma Inhibit the Intracellular Endoproteolytic Cleavage of Myocilin between Amino Acids Arg226 and Ile227 *
Aroca-Aguilar JD, Sánchez-Sánchez F, Ghosh S, Coca-Prados M, Escribano J. Myocilin Mutations Causing Glaucoma Inhibit the Intracellular Endoproteolytic Cleavage of Myocilin between Amino Acids Arg226 and Ile227 *. Journal Of Biological Chemistry 2005, 280: 21043-21051. PMID: 15795224, DOI: 10.1074/jbc.m501340200.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsArginineBlotting, WesternBrefeldin ACattleCell LineComputational BiologyCOS CellsCulture MediaCytoskeletal ProteinsExtracellular Matrix ProteinsEye ProteinsGlaucomaGlycoproteinsGreen Fluorescent ProteinsHumansIsoleucineLeucineMicroscopy, FluorescenceMolecular Sequence DataMutationPeptidesPhenotypeProtein Structure, TertiarySpectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationTransfectionConceptsMyocilin mutationPathogenesis of glaucomaCause of blindnessSevere glaucoma phenotypeHuman aqueous humorAqueous humorOcular tissuesGlaucoma phenotypeNonocular tissuesWestern immunoblot analysisGlaucomaPathogenic mutationsOlfactomedin-like domainEndoproteolytic processingWild-type myocilinCell linesImmunoblot analysisMyocilinEndoproteolytic cleavageLeucine zipper-like domainMutant myocilinNormal roleHuman organsInhibitionTissue