Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus
J. Clin. Invest. Carlo Colombo, et al. 118:2148 doi:10.1172/JCI33777 [Go to this article.]

Figure 6
XBP1 splicing in transfected HEK293 cells. (A and B) Splicing of transcription factor XBP1 by agarose gel (A) and densitometry (B). Shown is the percentage of spliced/unspliced XBP1 forms for each sample, as assessed by densitometry, relative to WT. The red line indicates ratio 1. All mutations associated with PNDM or infancy-onset diabetes (and hAkita) induced an increase in XBP1 splicing compared with WT (pro)insulin or familial hyper(pro)insulinemia mutation R65L.