Publications

NIHR BioResource staff, our partners and our collaborators work on a remarkable range of studies in human disease. Reviewed and refereed scientific publications are a vital part of our work: each year we are part of 30—40 published studies.

Year

Showing the latest 475 publications

Publications 451-460 of 475

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
1 May 2013
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
4 April 2013
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)
15 March 2013
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
15 June 2012
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)
1 May 2012
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
26 February 2012
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
27 December 2011
Antibodies against insulin measured by electrochemiluminescence predicts insulitis severity and disease onset in non-obese diabetic mice and can distinguish human type 1 diabetes status
Lo, B., Swafford, A., Shafer-Weaver, K., Jerome, L., Rakhlin, L., Mathern, D., et al.
Journal of Translational Medicine
28 November 2011
Evidence of association with type 1 diabetes in the SLC11A1 gene region
Yang, J., Downes, K., Howson, J., Nutland, S., Stevens, H., Walker, N., et al.
BMC medical genetics
27 April 2011
The serotonin transporter gene polymorphism and the effect of baseline on amygdala response to emotional faces
von dem Hagen, E., Passamonti, L., Nutland, S., Sambrook, J., Calder, A.
Neuropsychologia
1 March 2011