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Showing 1–2 of 2 results
Advanced filters: Author: Denise Lasher Clear advanced filters

  • Anders Molven and colleagues show that a recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis. The hybrid allele is associated with approximately fivefold-higher risk of disease, and it encodes a protein with reduced lipolytic activity and prominent intracellular accumulation.

    • Karianne Fjeld
    • Frank Ulrich Weiss
    • Anders Molven
    Research
    Nature Genetics
    Volume: 47, P: 518-522

  • Heiko Witt, Miklós Sahin-Tóth and colleagues show that loss-of-function variants in CPA1 are strongly associated with early onset chronic pancreatitis. On the basis of their findings, they propose that the mechanism may involve misfolding-induced endoplasmic reticulum stress rather than elevated trypsin activity.

    • Heiko Witt
    • Sebastian Beer
    • Miklós Sahin-Tóth
    Research
    Nature Genetics
    Volume: 45, P: 1216-1220