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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.
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.
Martinovici D, Ransy V, Vanden Eijnden S, Ridremont C, Pardou A, Cassart M, Avni F, Donner C, Lingier P, Mathieu A, Gulbis B, De Brouckère V, Cnop M, Abramowicz M, Désir J. Martinovici D, et al. Among authors: cnop m. Eur J Med Genet. 2010 Jan-Feb;53(1):25-8. doi: 10.1016/j.ejmg.2009.10.004. Epub 2009 Nov 1. Eur J Med Genet. 2010. PMID: 19887127
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.
A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.
Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senée V, Lopes M, Cunha DA, Harding HP, Derbois C, Bendelac N, Hattersley AT, Eizirik DL, Ron D, Cnop M, Julier C. Abdulkarim B, et al. Among authors: cnop m. Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9. Diabetes. 2015. PMID: 26159176 Free PMC article.
YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress.
De Franco E, Lytrivi M, Ibrahim H, Montaser H, Wakeling MN, Fantuzzi F, Patel K, Demarez C, Cai Y, Igoillo-Esteve M, Cosentino C, Lithovius V, Vihinen H, Jokitalo E, Laver TW, Johnson MB, Sawatani T, Shakeri H, Pachera N, Haliloglu B, Ozbek MN, Unal E, Yıldırım R, Godbole T, Yildiz M, Aydin B, Bilheu A, Suzuki I, Flanagan SE, Vanderhaeghen P, Senée V, Julier C, Marchetti P, Eizirik DL, Ellard S, Saarimäki-Vire J, Otonkoski T, Cnop M, Hattersley AT. De Franco E, et al. Among authors: cnop m. J Clin Invest. 2020 Dec 1;130(12):6338-6353. doi: 10.1172/JCI141455. J Clin Invest. 2020. PMID: 33164986 Free PMC article.
TIGER: The gene expression regulatory variation landscape of human pancreatic islets.
Alonso L, Piron A, Morán I, Guindo-Martínez M, Bonàs-Guarch S, Atla G, Miguel-Escalada I, Royo R, Puiggròs M, Garcia-Hurtado X, Suleiman M, Marselli L, Esguerra JLS, Turatsinze JV, Torres JM, Nylander V, Chen J, Eliasson L, Defrance M, Amela R; MAGIC; Mulder H, Gloyn AL, Groop L, Marchetti P, Eizirik DL, Ferrer J, Mercader JM, Cnop M, Torrents D. Alonso L, et al. Among authors: cnop m. Cell Rep. 2021 Oct 12;37(2):109807. doi: 10.1016/j.celrep.2021.109807. Cell Rep. 2021. PMID: 34644572 Free PMC article.
Functional genetics reveals the contribution of delta opioid receptor to type 2 diabetes and beta-cell function.
Meulebrouck S, Merrheim J, Queniat G, Bourouh C, Derhourhi M, Boissel M, Yi X, Badreddine A, Boutry R, Leloire A, Toussaint B, Amanzougarene S, Vaillant E, Durand E, Loiselle H, Huyvaert M, Dechaume A, Scherrer V, Marchetti P, Balkau B, Charpentier G, Franc S, Marre M, Roussel R, Scharfmann R, Cnop M, Canouil M, Baron M, Froguel P, Bonnefond A. Meulebrouck S, et al. Among authors: cnop m. Nat Commun. 2024 Aug 5;15(1):6627. doi: 10.1038/s41467-024-51004-6. Nat Commun. 2024. PMID: 39103322 Free PMC article.
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.
Fostering improved human islet research: a European perspective.
Marchetti P, Schulte AM, Marselli L, Schoniger E, Bugliani M, Kramer W, Overbergh L, Ullrich S, Gloyn AL, Ibberson M, Rutter G, Froguel P, Groop L, McCarthy MI, Dotta F, Scharfmann R, Magnan C, Eizirik DL, Mathieu C, Cnop M, Thorens B, Solimena M. Marchetti P, et al. Among authors: cnop m. Diabetologia. 2019 Aug;62(8):1514-1516. doi: 10.1007/s00125-019-4911-4. Epub 2019 Jun 13. Diabetologia. 2019. PMID: 31197398 Free PMC article. No abstract available.
Expression of adiponectin receptors in pancreatic beta cells.
Kharroubi I, Rasschaert J, Eizirik DL, Cnop M. Kharroubi I, et al. Among authors: cnop m. Biochem Biophys Res Commun. 2003 Dec 26;312(4):1118-22. doi: 10.1016/j.bbrc.2003.11.042. Biochem Biophys Res Commun. 2003. PMID: 14651988
159 results