2002
Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin
Rezaie T, Child A, Hitchings R, Brice G, Miller L, Coca-Prados M, Héon E, Krupin T, Ritch R, Kreutzer D, Crick RP, Sarfarazi M. Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin. Science 2002, 295: 1077-1079. PMID: 11834836, DOI: 10.1126/science.1066901.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlternative SplicingAmino Acid SequenceBrainCell Cycle ProteinsChromosome MappingChromosomes, Human, Pair 10Ciliary BodyExonsEye ProteinsFemaleGlaucoma, Open-AngleGolgi ApparatusHeterozygoteHumansIntraocular PressureMaleMembrane Transport ProteinsMiddle AgedMutationMutation, MissenseNerve Tissue ProteinsOcular HypertensionPedigreePolymorphism, Single-Stranded ConformationalRetinaTrabecular MeshworkTranscription Factor TFIIIAZinc FingersConceptsPrimary open-angle glaucomaHereditary primary open-angle glaucomaNormal intraocular pressureOpen-angle glaucomaAdult-onset primary open-angle glaucomaNeuroprotective roleIntraocular pressureAngle glaucomaTumor necrosisLeading causeTrabecular meshworkOPTN geneCiliary epitheliumCausative genesGlaucomaChromosome 10p14OptineurinSequence alterationsNecrosisRetinaIndividualsBrainEpithelium
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
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