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Page 1
Regulatory de novo mutations underlying intellectual disability.
De Vas MG, Boulet F, Joshi SS, Garstang MG, Khan TN, Atla G, Parry D, Moore D, Cebola I, Zhang S, Cui W, Lampe AK, Lam WW; Genomics England Research Consortium; Ferrer J, Pradeepa MM, Atanur SS. De Vas MG, et al. Among authors: cebola i. Life Sci Alliance. 2023 Feb 28;6(5):e202201843. doi: 10.26508/lsa.202201843. Print 2023 May. Life Sci Alliance. 2023. PMID: 36854624 Free PMC article.
Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.
Weedon MN, Cebola I, Patch AM, Flanagan SE, De Franco E, Caswell R, Rodríguez-Seguí SA, Shaw-Smith C, Cho CH, Allen HL, Houghton JA, Roth CL, Chen R, Hussain K, Marsh P, Vallier L, Murray A; International Pancreatic Agenesis Consortium; Ellard S, Ferrer J, Hattersley AT. Weedon MN, et al. Among authors: cebola i. Nat Genet. 2014 Jan;46(1):61-64. doi: 10.1038/ng.2826. Epub 2013 Nov 10. Nat Genet. 2014. PMID: 24212882 Free PMC article.
Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants.
Pasquali L, Gaulton KJ, Rodríguez-Seguí SA, Mularoni L, Miguel-Escalada I, Akerman İ, Tena JJ, Morán I, Gómez-Marín C, van de Bunt M, Ponsa-Cobas J, Castro N, Nammo T, Cebola I, García-Hurtado J, Maestro MA, Pattou F, Piemonti L, Berney T, Gloyn AL, Ravassard P, Skarmeta JLG, Müller F, McCarthy MI, Ferrer J. Pasquali L, et al. Among authors: cebola i. Nat Genet. 2014 Feb;46(2):136-143. doi: 10.1038/ng.2870. Epub 2014 Jan 12. Nat Genet. 2014. PMID: 24413736 Free PMC article.
Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes.
Miguel-Escalada I, Bonàs-Guarch S, Cebola I, Ponsa-Cobas J, Mendieta-Esteban J, Atla G, Javierre BM, Rolando DMY, Farabella I, Morgan CC, García-Hurtado J, Beucher A, Morán I, Pasquali L, Ramos-Rodríguez M, Appel EVR, Linneberg A, Gjesing AP, Witte DR, Pedersen O, Grarup N, Ravassard P, Torrents D, Mercader JM, Piemonti L, Berney T, de Koning EJP, Kerr-Conte J, Pattou F, Fedko IO, Groop L, Prokopenko I, Hansen T, Marti-Renom MA, Fraser P, Ferrer J. Miguel-Escalada I, et al. Among authors: cebola i. Nat Genet. 2019 Jul;51(7):1137-1148. doi: 10.1038/s41588-019-0457-0. Epub 2019 Jun 28. Nat Genet. 2019. PMID: 31253982 Free PMC article.
SOX17 Enhancer Variants Disrupt Transcription Factor Binding And Enhancer Inactivity Drives Pulmonary Hypertension.
Walters R, Vasilaki E, Aman J, Chen CN, Wu Y, Liang OD, Ashek A, Dubois O, Zhao L, Sabrin F, Cebola I, Ferrer J, Morrell NW, Klinger JR, Wilkins MR, Zhao L, Rhodes CJ. Walters R, et al. Among authors: cebola i. Circulation. 2023 May 23;147(21):1606-1621. doi: 10.1161/CIRCULATIONAHA.122.061940. Epub 2023 Apr 17. Circulation. 2023. PMID: 37066790 Free PMC article.
TEAD and YAP regulate the enhancer network of human embryonic pancreatic progenitors.
Cebola I, Rodríguez-Seguí SA, Cho CH, Bessa J, Rovira M, Luengo M, Chhatriwala M, Berry A, Ponsa-Cobas J, Maestro MA, Jennings RE, Pasquali L, Morán I, Castro N, Hanley NA, Gomez-Skarmeta JL, Vallier L, Ferrer J. Cebola I, et al. Nat Cell Biol. 2015 May;17(5):615-626. doi: 10.1038/ncb3160. Epub 2015 Apr 27. Nat Cell Biol. 2015. PMID: 25915126 Free PMC article.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Among authors: cebola i. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
MiR-184 expression is regulated by AMPK in pancreatic islets.
Martinez-Sanchez A, Nguyen-Tu MS, Cebola I, Yavari A, Marchetti P, Piemonti L, de Koning E, Shapiro AMJ, Johnson P, Sakamoto K, Smith DM, Leclerc I, Ashrafian H, Ferrer J, Rutter GA. Martinez-Sanchez A, et al. Among authors: cebola i. FASEB J. 2018 May;32(5):2587-2600. doi: 10.1096/fj.201701100R. Epub 2018 Jan 8. FASEB J. 2018. PMID: 29269398 Free PMC article.
Collectively, these data demonstrate that glucose-mediated changes in AMPK activity are central for the regulation of miR-184 and other miRNAs in islets and provide a link between energy status and gene expression in beta cells.-Martinez-Sanchez, A., Nguyen-Tu, M.-S., Cebola …
Collectively, these data demonstrate that glucose-mediated changes in AMPK activity are central for the regulation of miR-184 and other miRN …
30 results