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Expanding the genetic etiological and diagnostic spectrum of monogenic diabetes mellitus

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Publications

Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene

Author(s): Ildem Akerman, Miguel Angel Maestro, Elisa De Franco, Vanessa Grau, Sarah Flanagan, Javier García-Hurtado, Gerhard Mittler, Philippe Ravassard, Lorenzo Piemonti, Sian Ellard, Andrew T. Hattersley, Jorge Ferrer
Published in: Cell Reports, 35/2, 2021, Page(s) 108981, ISSN 2211-1247
Publisher: Cell Press
DOI: 10.1016/j.celrep.2021.108981

CRISPR-based genome editing in primary human pancreatic islet cells

Author(s): Romina J. Bevacqua, Xiaoqing Dai, Jonathan Y. Lam, Xueying Gu, Mollie S. H. Friedlander, Krissie Tellez, Irene Miguel-Escalada, Silvia Bonàs-Guarch, Goutham Atla, Weichen Zhao, Seung Hyun Kim, Antonia A. Dominguez, Lei S. Qi, Jorge Ferrer, Patrick E. MacDonald, Seung K. Kim
Published in: Nature Communications, 12/1, 2021, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-021-22651-w

TIGER: The gene expression regulatory variation landscape of human pancreatic islets

Author(s): 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
Published in: Cell Reports, 2021, ISSN 2211-1247
Publisher: Cell Press
DOI: 10.1016/j.celrep.2021.109807

HASTER is a transcriptional stabilizer of HNF1A

Author(s): Anthony Beucher, Irene Miguel-Escalada, Diego Balboa, Matías G. De Vas, Miguel Angel Maestro, Javier Garcia-Hurtado, Aina Bernal, Roser Gonzalez-Franco, Pierfrancesco Vargiu, Holger Heyn, Philippe Ravassard, Sagrario Ortega, Jorge Ferrer
Published in: Biorxiv, 2021
Publisher: Biorxiv
DOI: 10.1101/2021.05.12.443907