2020
Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish
Morales-Cámara S, Alexandre-Moreno S, Bonet-Fernández J, Atienzar-Aroca R, Aroca-Aguilar J, Ferre-Fernández J, Méndez C, Morales L, Fernández-Sánchez L, Cuenca N, Coca-Prados M, Martínez-de-la-Casa J, Garcia-Feijoo J, Escribano J. Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish. Genes 2020, 11: 550. PMID: 32422965, PMCID: PMC7288452, DOI: 10.3390/genes11050550.Peer-Reviewed Original ResearchMeSH KeywordsAdultAmino Acid SequenceAnimalsApoptosisBase SequenceCRISPR-Cas SystemsFemaleGene EditingGene Knockout TechniquesGlaucomaGliosisGuanylate Cyclase-Activating ProteinsHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPedigreeRetinaReverse Transcriptase Polymerase Chain ReactionSequence AlignmentSequence Homology, Amino AcidZebrafishZebrafish ProteinsConceptsPrimary congenital glaucomaCongenital glaucomaRetinal ganglion cell layerRetinal ganglion cell apoptosisCiliary epitheliumGlial fibrillary acidic proteinWhole-exome sequencing analysisGanglion cell layerGanglion cell apoptosisHuman ocular ciliary epitheliumFibrillary acidic proteinOcular anterior segmentIntraocular pressure regulationOcular ciliary epitheliumNon-pigmented ciliary epitheliumAutosomal recessive fashionOptical neuropathyOcular effectsRetinal damageMüller cellsAnterior segmentPressure regulationAcidic proteinKnockout animalsGuanylate cyclase
1999
Identification, expression and chromosome localization of a human gene encoding a novel protein with similarity to the pilB family of transcriptional factors (pilin) and to bacterial peptide methionine sulfoxide reductases
Huang W, Escribano J, Sarfarazi M, Coca-Prados M. Identification, expression and chromosome localization of a human gene encoding a novel protein with similarity to the pilB family of transcriptional factors (pilin) and to bacterial peptide methionine sulfoxide reductases. Gene 1999, 233: 233-240. PMID: 10375640, DOI: 10.1016/s0378-1119(99)00131-6.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBacterial ProteinsBase SequenceChromosome MappingChromosomes, Human, Pair 10Ciliary BodyDNA, ComplementaryFluorescent Antibody Technique, IndirectHelicobacter pyloriHumansMethionine Sulfoxide ReductasesMicrofilament ProteinsMolecular Sequence DataOxidoreductasesPhylogenySequence Homology, Amino AcidStreptococcus pneumoniaeTranscription FactorsConceptsPeptide methionine sulfoxide reductaseCBS-1Ocular ciliary bodyChromosome localizationNovel proteinSignificant identitySulfoxide reductaseTranscription factorsCarboxyl terminusAmino acid sequence identityMammalian transcription factorsGlycine-rich proteinTerminal regionAmino acidsMethionine sulfoxide reductaseOpen reading frameRegulation of expressionAmino-terminal regionAmino acid sequenceCarboxyl-terminal regionMarkers WIIntergenic regionChromosome 10p12Human genesReading frame
1998
Identification ofPKD2L,a HumanPKD2-Related Gene: Tissue-Specific Expression and Mapping to Chromosome 10q25
Wu G, Hayashi T, Park J, Dixit M, Reynolds D, Li L, Maeda Y, Cai Y, Coca-Prados M, Somlo S. Identification ofPKD2L,a HumanPKD2-Related Gene: Tissue-Specific Expression and Mapping to Chromosome 10q25. Genomics 1998, 54: 564-568. PMID: 9878261, DOI: 10.1006/geno.1998.5618.Peer-Reviewed Original ResearchAmino Acid SequenceBlotting, NorthernCalcium ChannelsChromosomes, Human, Pair 10Cloning, MolecularExpressed Sequence TagsGene Expression RegulationGenetic MarkersHumansLiverLiver DiseasesMembrane GlycoproteinsMembrane ProteinsMolecular Sequence DataOrgan SpecificityPhosphoproteinsPolycystic Kidney, Autosomal DominantPolymorphism, GeneticReceptors, Cell SurfaceRetinaSequence Homology, Amino AcidTissue DistributionTRPP Cation ChannelsSequence 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 Acid
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