Expanding the genetic etiological and diagnostic spectrum of monogenic diabetes mellitus

Project Information

DecodeDiabetes

Grant agreement ID: 789055

DOI

10.3030/789055

Project closed

EC signature date 31 October 2018

Start date 1 November 2018

End date 31 October 2024

Funded under

• EXCELLENT SCIENCE - European Research Council (ERC)

Total cost

€ 2 243 746,00

EU contribution

€ 2 243 746,00

Coordinated by

FUNDACIO CENTRE DE REGULACIO GENOMICA
Spain

CORDIS provides links to public deliverables and publications of HORIZON projects.

Links to deliverables and publications from FP7 projects, as well as links to some specific result types such as dataset and software, are dynamically retrieved from OpenAIRE .

Publications

Peer reviewed articles (9)

Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster

Author(s): Irene Miguel-Escalada, Miguel Ángel Maestro, Diego Balboa, Anamaria Elek, Aina Bernal, Edgar Bernardo, Vanessa Grau, Javier García-Hurtado, Arnau Sebé-Pedrós, Jorge Ferrer
Published in: Developmental Cell, Issue 57, 2024, Page(s) 1922-1936.e9, ISSN 1534-5807
Publisher: Cell Press
DOI: 10.1016/j.devcel.2022.07.014

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, Issue 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, Issue 12/1, 2021, ISSN 2041-1723
Publisher: Nature Publishing Group
DOI: 10.1038/s41467-021-22651-w

Transcription regulation by long non-coding RNAs: mechanisms and disease relevance

Author(s): Jorge Ferrer, Nadya Dimitrova
Published in: Nature Reviews Molecular Cell Biology, Issue 25, 2024, Page(s) 396-415, ISSN 1471-0072
Publisher: Nature Publishing Group
DOI: 10.1038/s41580-023-00694-9

Pancreatic microexons regulate islet function and glucose homeostasis

Author(s): Jonàs Juan-Mateu, Simon Bajew, Marta Miret-Cuesta, Luis P. Íñiguez, Amaya Lopez-Pascual, Sophie Bonnal, Goutham Atla, Sílvia Bonàs-Guarch, Jorge Ferrer, Juan Valcárcel, Manuel Irimia
Published in: Nature Metabolism, Issue volume 5,, 2024, Page(s) 219–236, ISSN 2522-5812
Publisher: Springer
DOI: 10.1038/s42255-022-00734-2

The HASTER lncRNA promoter is a cis-acting 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: Nature Cell Biology, Issue 24, 2022, Page(s) 1528-1540, ISSN 1465-7392
Publisher: Nature Publishing Group
DOI: 10.1038/s41556-022-00996-8

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

Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes

Author(s): Irene Miguel-Escalada, Silvia Bonàs-Guarch, Inês Cebola, Joan Ponsa-Cobas, Julen Mendieta-Esteban, Goutham Atla, Biola M. Javierre, Delphine M. Y. Rolando, Irene Farabella, Claire C. Morgan, Javier García-Hurtado, Anthony Beucher, Ignasi Morán, Lorenzo Pasquali, Mireia Ramos-Rodríguez, Emil V. R. Appel, Allan Linneberg, Anette P. Gjesing, Daniel R. Witte, Oluf Pedersen, Niels Grarup, Philip
Published in: Nature Genetics, Issue 51, 2023, Page(s) 1137-1148, ISSN 1061-4036
Publisher: Nature Publishing Group
DOI: 10.1038/s41588-019-0457-0

Genetic architecture of oral glucose-stimulated insulin release provides biological insights into type 2 diabetes aetiology

Author(s): L. Madsen, S. Bonàs-Guarch, S. Gheibi, R. Prasad, J. Vangipurapu, V. Ahuja, L. R. Cataldo, O. Dwivedi, G. Hatem, G. Atla, M. Guindo-Martínez, A. M. Jørgensen, A. E. Jonsson, I. Miguel-Escalada, S. Hassan, A. Linneberg, Tarunveer S. Ahluwalia, T. Drivsholm, O. Pedersen, T. I. A. Sørensen, A. Astrup, D. Witte, P. Damm, T. D. Clausen, E. Mathiesen, T. H. Pers, R. J. F. Loos, L. Hakaste, M. Fex, N
Published in: Nature Metabolism, Issue 6, 2023, Page(s) 1897-1912, ISSN 2522-5812
Publisher: Springer

Other (1)

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