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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: julier c. J Clin Invest. 2020 Dec 1;130(12):6338-6353. doi: 10.1172/JCI141455. J Clin Invest. 2020. PMID: 33164986 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: julier c. 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: julier c. Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9. Diabetes. 2015. PMID: 26159176 Free PMC article.
DNAJC3 deficiency induces β-cell mitochondrial apoptosis and causes syndromic young-onset diabetes.
Lytrivi M, Senée V, Salpea P, Fantuzzi F, Philippi A, Abdulkarim B, Sawatani T, Marín-Cañas S, Pachera N, Degavre A, Singh P, Derbois C, Lechner D, Ladrière L, Igoillo-Esteve M, Cosentino C, Marselli L, Deleuze JF, Marchetti P, Eizirik DL, Nicolino M, Chaussenot A, Julier C, Cnop M. Lytrivi M, et al. Among authors: julier c. Eur J Endocrinol. 2021 Mar;184(3):455-468. doi: 10.1530/EJE-20-0636. Eur J Endocrinol. 2021. PMID: 33486469
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: julier c. 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.
dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.
Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senée V, Bacq D, Besse C, Baz B, Marroquí L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socié G, Eizirik DL, Gautier JF, Julier C. Dos Santos RS, et al. Among authors: julier c. Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10. Diabetes. 2017. PMID: 28073829
Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons.
Calderari S, Ria M, Gérard C, Nogueira TC, Villate O, Collins SC, Neil H, Gervasi N, Hue C, Suarez-Zamorano N, Prado C, Cnop M, Bihoreau MT, Kaisaki PJ, Cazier JB, Julier C, Lathrop M, Werner M, Eizirik DL, Gauguier D. Calderari S, et al. Among authors: julier c. Genomics. 2018 Mar;110(2):98-111. doi: 10.1016/j.ygeno.2017.09.001. Epub 2017 Sep 11. Genomics. 2018. PMID: 28911974 Free article.
141 results