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Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosusCanine hereditary ataxia in old english sheepdogs and gordon setters is associated with a defect in the autophagy gene encoding RAB24Structural basis for the inhibitory efficacy of efavirenz (DMP-266), MSC194 and PNU142721 towards the HIV-1 RT K103N mutantA STAT4 risk allele is associated with ischaemic cerebrovascular events and anti-phospholipid antibodies in systemic lupus erythematosusMutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencingGenome-wide analyses implicate 33 loci in heritable dog osteosarcoma, including regulatory variants near CDKN2A/BSequence variants in ARHGAP15, COLQ and FAM155A associate with diverticular disease and diverticulitis.Performance of microarray and liquid based capture methods for target enrichment for massively parallel sequencing and SNP discovery.Identification of genomic regions associated with phenotypic variation between dog breeds using selection mappingMultiplex SNP genotyping in pooled DNA samples by a four-colour microarray system.Copy number expansion of the STX17 duplication in melanoma tissue from Grey horsesA candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE.Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus.Mutation discovery in mice by whole exome sequencing.A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.Candidate genes and functional noncoding variants identified in a canine model of obsessive-compulsive disorder.Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA.Genome-wide profiling of target genes for the systemic lupus erythematosus-associated transcription factors IRF5 and STAT4.Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations.Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability.An insertion-deletion polymorphism in the interferon regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseasesAssociation of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritisComprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosusVariants of the Interferon Regulatory Factor 5 Gene Regulate Expression of IRF5 mRNA in Atherosclerotic Tissue But Are Not Associated With Myocardial InfarctionFine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horsesCommon and Rare Sequence Variants Influencing Tumor Biomarkers in BloodAzithromycin induces epidermal differentiation and multivesicular bodies in airway epithelia
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description
onderzoeker
@nl
researcher
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հետազոտող
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name
Snaevar Sigurdsson
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Snaevar Sigurdsson
@en
Snaevar Sigurdsson
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Snaevar Sigurdsson
@nl
type
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Snaevar Sigurdsson
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Snaevar Sigurdsson
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Snaevar Sigurdsson
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Snaevar Sigurdsson
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prefLabel
Snaevar Sigurdsson
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Snaevar Sigurdsson
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Snaevar Sigurdsson
@es
Snaevar Sigurdsson
@nl
P106
P108
P31
P496
0000-0003-4860-6311