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A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis.
Fjeld K, Weiss FU, Lasher D, Rosendahl J, Chen JM, Johansson BB, Kirsten H, Ruffert C, Masson E, Steine SJ, Bugert P, Cnop M, Grützmann R, Mayerle J, Mössner J, Ringdal M, Schulz HU, Sendler M, Simon P, Sztromwasser P, Torsvik J, Scholz M, Tjora E, Férec C, Witt H, Lerch MM, Njølstad PR, Johansson S, Molven A. Fjeld K, et al. Among authors: cnop m. Nat Genet. 2015 May;47(5):518-522. doi: 10.1038/ng.3249. Epub 2015 Mar 16. Nat Genet. 2015. PMID: 25774637 Free PMC article.
Diabetes and pancreatic exocrine dysfunction due to mutations in the carboxyl ester lipase gene-maturity onset diabetes of the young (CEL-MODY): a protein misfolding disease.
Johansson BB, Torsvik J, Bjørkhaug L, Vesterhus M, Ragvin A, Tjora E, Fjeld K, Hoem D, Johansson S, Ræder H, Lindquist S, Hernell O, Cnop M, Saraste J, Flatmark T, Molven A, Njølstad PR. Johansson BB, et al. Among authors: cnop m. J Biol Chem. 2011 Oct 7;286(40):34593-605. doi: 10.1074/jbc.M111.222679. Epub 2011 Jul 22. J Biol Chem. 2011. PMID: 21784842 Free PMC article.
GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim.
Nogueira TC, Paula FM, Villate O, Colli ML, Moura RF, Cunha DA, Marselli L, Marchetti P, Cnop M, Julier C, Eizirik DL. Nogueira TC, et al. Among authors: cnop m. PLoS Genet. 2013 May;9(5):e1003532. doi: 10.1371/journal.pgen.1003532. Epub 2013 May 30. PLoS Genet. 2013. PMID: 23737756 Free PMC article.
tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.
Igoillo-Esteve M, Genin A, Lambert N, Désir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M. Igoillo-Esteve M, et al. Among authors: cnop m. PLoS Genet. 2013 Oct;9(10):e1003888. doi: 10.1371/journal.pgen.1003888. Epub 2013 Oct 31. PLoS Genet. 2013. PMID: 24204302 Free PMC article.
Unveiling a common mechanism of apoptosis in β-cells and neurons in Friedreich's ataxia.
Igoillo-Esteve M, Gurgul-Convey E, Hu A, Romagueira Bichara Dos Santos L, Abdulkarim B, Chintawar S, Marselli L, Marchetti P, Jonas JC, Eizirik DL, Pandolfo M, Cnop M. Igoillo-Esteve M, et al. Among authors: cnop m. Hum Mol Genet. 2015 Apr 15;24(8):2274-86. doi: 10.1093/hmg/ddu745. Epub 2014 Dec 30. Hum Mol Genet. 2015. PMID: 25552656
Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance.
Patel KA, Kettunen J, Laakso M, Stančáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N, Hattersley AT, Tuomi T, Cnop M, Weedon MN. Patel KA, et al. Among authors: cnop m. Nat Commun. 2017 Oct 12;8(1):888. doi: 10.1038/s41467-017-00895-9. Nat Commun. 2017. PMID: 29026101 Free PMC article.
The human pancreatic islet transcriptome: expression of candidate genes for type 1 diabetes and the impact of pro-inflammatory cytokines.
Eizirik DL, Sammeth M, Bouckenooghe T, Bottu G, Sisino G, Igoillo-Esteve M, Ortis F, Santin I, Colli ML, Barthson J, Bouwens L, Hughes L, Gregory L, Lunter G, Marselli L, Marchetti P, McCarthy MI, Cnop M. Eizirik DL, et al. Among authors: cnop m. PLoS Genet. 2012;8(3):e1002552. doi: 10.1371/journal.pgen.1002552. Epub 2012 Mar 8. PLoS Genet. 2012. PMID: 22412385 Free PMC article.
157 results