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The genetic risk factor CEL-HYB1 causes proteotoxicity and chronic pancreatitis in mice.
Fjeld K, Gravdal A, Brekke RS, Alam J, Wilhelm SJ, El Jellas K, Pettersen HN, Lin J, Solheim MH, Steine SJ, Johansson BB, Njølstad PR, Verbeke CS, Xiao X, Lowe ME, Molven A. Fjeld K, et al. Among authors: wilhelm sj. Pancreatology. 2022 Dec;22(8):1099-1111. doi: 10.1016/j.pan.2022.11.003. Epub 2022 Nov 9. Pancreatology. 2022. PMID: 36379850 Free PMC article.
Common single-base insertions in the VNTR of the carboxyl ester lipase (CEL) gene are benign and also likely to arise somatically in the exocrine pancreas.
Brekke RS, Gravdal A, El Jellas K, Curry GE, Lin J, Wilhelm SJ, Steine SJ, Mas E, Johansson S, Lowe ME, Johansson BB, Xiao X, Fjeld K, Molven A. Brekke RS, et al. Among authors: wilhelm sj. Hum Mol Genet. 2024 May 18;33(11):1001-1014. doi: 10.1093/hmg/ddae034. Hum Mol Genet. 2024. PMID: 38483348 Free PMC article.