Showing the latest 478 publications
Publications 451-460 of 478
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FOXO in the hole: leveraging GWAS for outcome and function
Gregersen, P., Manjarrez-Orduño, N.
Cell
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Human SNP links differential outcomes in inflammatory and infectious disease to a FOXO3-regulated pathway
Lee, J., Espéli, M., Anderson, C., Linterman, M., Pocock, J., Williams, N., et al.
Cell
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Negligible impact of rare autoimmune-locus coding-region variants on missing heritability
Hunt, K., Mistry, V., Bockett, N., Ahmad, T., Ban, M., Barker, J., et al.
Nature
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SMIM1 underlies the Vel blood group and influences red blood cell traits
Cvejic, A., Haer-Wigman, L., Stephens, J., Kostadima, M., Smethurst, P., Frontini, M., et al.
Nature Genetics
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Functional IL6R 358Ala allele impairs classical IL-6 receptor signaling and influences risk of diverse inflammatory diseases
Ferreira, R., Freitag, D., Cutler, A., Howson, J., Rainbow, D., Smyth, D., et al.
PLoS genetics
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Postthymic expansion in human CD4 naive T cells defined by expression of functional high-affinity IL-2 receptors
Pekalski, M., Ferreira, R., Coulson, R., Cutler, A., Guo, H., Smyth, D., et al.
Journal of Immunology (Baltimore, Md.: 1950)
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Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes
Wallace, C., Rotival, M., Cooper, J., Rice, C., Yang, J., McNeill, M., et al.
Human Molecular Genetics
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Type 1 diabetes-associated IL2RA variation lowers IL-2 signaling and contributes to diminished CD4+CD25+ regulatory T cell function
Garg, G., Tyler, J., Yang, J., Cutler, A., Downes, K., Pekalski, M., et al.
Journal of Immunology (Baltimore, Md.: 1950)
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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome
Albers, C., Paul, D., Schulze, H., Freson, K., Stephens, J., Smethurst, P., et al.
Nature Genetics
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Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry
Hunt, K., Smyth, D., Balschun, T., Ban, M., Mistry, V., Ahmad, T., et al.
Nature Genetics