2014
Mutation of POLB Causes Lupus in Mice
Senejani AG, Liu Y, Kidane D, Maher SE, Zeiss CJ, Park HJ, Kashgarian M, McNiff JM, Zelterman D, Bothwell AL, Sweasy JB. Mutation of POLB Causes Lupus in Mice. Cell Reports 2014, 6: 1-8. PMID: 24388753, PMCID: PMC3916967, DOI: 10.1016/j.celrep.2013.12.017.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDNA Polymerase betaLupus Erythematosus, SystemicMiceMice, Inbred C57BLMutation, MissensePolymorphism, Single NucleotideV(D)J RecombinationConceptsSystemic lupus erythematosusLupus-like diseaseLupus erythematosusAutoimmune pathologyMouse modelGenome-wide association studiesPol β activityDecreased expressionMutant miceUnderlying causeMicePrevious genome-wide association studyΒ activityDNA polymerase activityReplication studyExcision repair pathwayImmune diversitySomatic hypermutationBase excision repair pathwayAssociation studiesErythematosusLupusPolymerase activityExpressionKey enzyme
2005
Complement Factor H Polymorphism in Age-Related Macular Degeneration
Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, Haynes C, Henning AK, SanGiovanni JP, Mane SM, Mayne ST, Bracken MB, Ferris FL, Ott J, Barnstable C, Hoh J. Complement Factor H Polymorphism in Age-Related Macular Degeneration. Science 2005, 308: 385-389. PMID: 15761122, PMCID: PMC1512523, DOI: 10.1126/science.1109557.Peer-Reviewed Original ResearchMeSH KeywordsAgedAged, 80 and overAgingAllelesAmino Acid SubstitutionCase-Control StudiesChoroidChromosomes, Human, Pair 1Complement Factor HComplement Membrane Attack ComplexExonsFemaleGenetic MarkersGenetic Predisposition to DiseaseGenotypeHaplotypesHistidineHumansImmunity, InnateIntronsLinkage DisequilibriumMacular DegenerationMaleOligonucleotide Array Sequence AnalysisPigment Epithelium of EyePolymorphism, GeneticPolymorphism, Single NucleotideRisk FactorsSmokingConceptsAge-related macular degenerationComplement factor H (CFH) geneMacular degenerationLikelihood of AMDComplement Factor H PolymorphismRisk allelesC-reactive proteinFactor H geneAmino acids 402H polymorphismCFH geneFamily-based studyMajor causeSingle nucleotide polymorphismsCommon variantsDegenerationPolymorphismH gene