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UPF2 is a critical regulator of liver development, function and regeneration.
Thoren LA, Nørgaard GA, Weischenfeldt J, Waage J, Jakobsen JS, Damgaard I, Bergström FC, Blom AM, Borup R, Bisgaard HC, Porse BT. Thoren LA, et al. Among authors: bergstrom fc. PLoS One. 2010 Jul 19;5(7):e11650. doi: 10.1371/journal.pone.0011650. PLoS One. 2010. PMID: 20657840 Free PMC article.
A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity.
Blom AM, Bergström F, Edey M, Diaz-Torres M, Kavanagh D, Lampe A, Goodship JA, Strain L, Moghal N, McHugh M, Inward C, Tomson C, Frémeaux-Bacchi V, Villoutreix BO, Goodship TH. Blom AM, et al. J Immunol. 2008 May 1;180(9):6385-91. doi: 10.4049/jimmunol.180.9.6385. J Immunol. 2008. PMID: 18424762