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Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
The results support a disease mechanism in SLE that involves key components of the type I IFN system, and identify SNPs that displayed strong signals in joint analysis of linkage and association with SLE. Expand
Genome Sequence, Comparative Analysis, and Population Genetics of the Domestic Horse
The analysis reveals an evolutionarily new centromere on equine chromosome 11 that displays properties of an immature but fully functioning Centromere and is devoid of centromeric satellite sequence, suggesting thatCentromeric function may arise before satellite repeat accumulation. Expand
Viral Glycosphingolipids Induce Lytic Infection and Cell Death in Marine Phytoplankton
, 861 (2009); 326 Science et al. Assaf Vardi, Cell Death in Marine Phytoplankton Viral Glycosphingolipids Induce Lytic Infection and www.sciencemag.org (this information is current as of November 5,Expand
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus
Evidence is found for three functional alleles of IRF5: the previously described exon 1B splice site variant, a 30-bp in-frame insertion/deletion variant of exon 6 that alters a proline-, glutamic acid-, serine- and threonine-rich domain region, and a variant in a conserved polyA+ signal sequence that alters the length of the 3′ UTR and stability of IRf5 mRNAs. Expand
Identification of Genomic Regions Associated with Phenotypic Variation between Dog Breeds using Selection Mapping
This study provides a catalogue of genomic regions showing extreme reduction in genetic variation or population differentiation in dogs, including many linked to phenotypic variation. Expand
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
Ten out of 53 analyzed SNPs in STAT4 were associated with SLE, with the strongest signal of association for two perfectly linked SNPs rs10181656 and rs7582694, which form a common risk haplotype for SLE. Expand
Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA.
It is concluded that the use of WGA, and MDA in particular, is a highly promising procedure for producing DNA in sufficient amounts even for genome wide SNP mapping studies. Expand
Comprehensive 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 erythematosus.
It is found that the sameIRF5 allele also confers risk for inflammatory bowel diseases and multiple sclerosis, suggesting a general role for IRF5 in autoimmune diseases. Expand
Genetic variants and disease-associated factors contribute to enhanced interferon regulatory factor 5 expression in blood cells of patients with systemic lupus erythematosus.
This study provides the first formal proof that IRF-5 expression and alternative splicing are significantly up-regulated in primary blood cells of patients with SLE, and the risk haplotype is associated with enhanced IRf-5 transcript and protein expression in patientswith SLE. Expand
Multiplex SNP genotyping in pooled DNA samples by a four-colour microarray system.
The microarray-basedgenotyping system established here is universally applicable for genotyping and quantification of any SNP, and the validated system for SNPs in type 1 IFN-related genes should find many applications in genetic studies of this important immunoregulatory pathway. Expand