2010
Functionally defective germline variants of sialic acid acetylesterase in autoimmunity
Surolia I, Pirnie SP, Chellappa V, Taylor KN, Cariappa A, Moya J, Liu H, Bell DW, Driscoll DR, Diederichs S, Haider K, Netravali I, Le S, Elia R, Dow E, Lee A, Freudenberg J, De Jager PL, Chretien Y, Varki A, MacDonald ME, Gillis T, Behrens TW, Bloch D, Collier D, Korzenik J, Podolsky DK, Hafler D, Murali M, Sands B, Stone JH, Gregersen PK, Pillai S. Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. Nature 2010, 466: 243-247. PMID: 20555325, PMCID: PMC2900412, DOI: 10.1038/nature09115.Peer-Reviewed Original ResearchMeSH KeywordsAcetylationAcetylesteraseAllelesAnimalsAntibodies, AntinuclearArthritis, RheumatoidAutoimmune DiseasesAutoimmunityBiocatalysisB-LymphocytesCarboxylic Ester HydrolasesCase-Control StudiesCell LineDiabetes Mellitus, Type 1EuropeExonsGenetic Predisposition to DiseaseGerm-Line MutationHumansMiceN-Acetylneuraminic AcidOdds RatioPolymorphism, Single NucleotideSample SizeSequence Analysis, DNA
2009
Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2
Neilson DE, Adams MD, Orr CM, Schelling DK, Eiben RM, Kerr DS, Anderson J, Bassuk AG, Bye AM, Childs AM, Clarke A, Crow YJ, Di Rocco M, Dohna-Schwake C, Dueckers G, Fasano AE, Gika AD, Gionnis D, Gorman MP, Grattan-Smith PJ, Hackenberg A, Kuster A, Lentschig MG, Lopez-Laso E, Marco EJ, Mastroyianni S, Perrier J, Schmitt-Mechelke T, Servidei S, Skardoutsou A, Uldall P, van der Knaap MS, Goglin KC, Tefft DL, Aubin C, de Jager P, Hafler D, Warman ML. Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2. American Journal Of Human Genetics 2009, 84: 44-51. PMID: 19118815, PMCID: PMC2668029, DOI: 10.1016/j.ajhg.2008.12.009.Peer-Reviewed Original ResearchConceptsRecurrent ANERecurrent casesAcute Necrotizing EncephalopathyMissense mutationsCommon viral infectionsSusceptibility allelesFamilial ANENecrotizing EncephalopathyHealthy childrenViral infectionBinding protein 2PatientsAdditional kindredsAutosomal dominant traitUnaffected controlsObligate carriersIdentical mutationsProtein 2Index familySusceptibility loci
2006
The role of inflammatory bowel disease susceptibility loci in multiple sclerosis and systemic lupus erythematosus
De Jager PL, Graham R, Farwell L, Sawcer S, Richardson A, Behrens TW, Compston A, Hafler DA, Kere J, Vyse TJ, Rioux JD. The role of inflammatory bowel disease susceptibility loci in multiple sclerosis and systemic lupus erythematosus. Genes & Immunity 2006, 7: 327-334. PMID: 16642031, DOI: 10.1038/sj.gene.6364303.Peer-Reviewed Original ResearchMeSH KeywordsChromosomes, Human, Pair 5ExonsGenetic Predisposition to DiseaseHumansInflammatory Bowel DiseasesIntracellular Signaling Peptides and ProteinsLupus Erythematosus, SystemicMembrane ProteinsMultiple SclerosisNod2 Signaling Adaptor ProteinPolymorphism, Single NucleotideTumor Suppressor ProteinsConceptsSystemic lupus erythematosusInflammatory bowel diseaseMultiple sclerosisRisk allelesLupus erythematosusInflammatory diseasesCases of SLERisk of SLECARD15/NOD2 geneGeneral susceptibility locusIBD risk allelesChronic inflammatory diseaseIBD5 locusComplex inflammatory diseaseInflammatory bowel disease susceptibility lociEvidence of associationLupus nephritisBowel diseaseSLE subjectsPooled analysisCARD15 geneSusceptibility lociNOD2 geneDiseaseErythematosus
2003
CTLA4 is associated with susceptibility to multiple sclerosis
Kantarci OH, Hebrink DD, Achenbach SJ, Atkinson EJ, Waliszewska A, Buckle G, McMurray CT, de Andrade M, Hafler DA, Weinshenker BG. CTLA4 is associated with susceptibility to multiple sclerosis. Journal Of Neuroimmunology 2003, 134: 133-141. PMID: 12507781, DOI: 10.1016/s0165-5728(02)00395-8.Peer-Reviewed Original ResearchAbataceptAge of OnsetAlternative SplicingAntigens, CDAntigens, DifferentiationBostonCTLA-4 AntigenDisease ProgressionDNA Mutational AnalysisExonsFemaleGenetic LinkageGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenotypeHaplotypesHumansImmunoconjugatesMaleMicrosatellite RepeatsMinnesotaMultiple SclerosisPolymorphism, Genetic