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

Autor: 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

Publikováno v: Cell Reports, Vol 35, Iss 2, Pp 108981- (2021)

Summary: Despite the central role of chromosomal context in gene transcription, human noncoding DNA variants are generally studied outside of their genomic location. This limits our understanding of disease-causing regulatory variants. INS promoter m

Externí odkaz: https://doaj.org/article/282fb6a0abd54a338e19484f6b2bb305

Matters arising: Insufficient evidence that pancreatic β cells are derived from adult ductal Neurog3-expressing progenitors

Autor: Judith Magenheim, Miguel Angel Maestro, Nadav Sharon, Pedro L. Herrera, L. Charles Murtaugh, Janel Kopp, Maike Sander, Guoqiang Gu, Douglas A. Melton, Jorge Ferrer, Yuval Dor

Publikováno v: Cell Stem Cell. 30:488-497.e3

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::910f12cfab399833fc31e8231b36096e
https://doi.org/10.1016/j.stem.2023.03.003

The biliary epithelium gives rise to liver progenitor cells

Autor: Joan Caballería, Cristina Millán, Pau Sancho-Bru, Delia Blaya, Pere Ginès, Myriam Solar, Juan José Lozano, Miguel Angel Maestro, Carles Rentero, Leo A. van Grunsven, Silvia Affò, Oriol Morales-Ibanez, Anna Alvarez-Guaita, Daniel Rodrigo-Torres, Ramon Bataller, Carlos Enrich, Mar Coll, Vicente Arroyo

Publikováno v: Hepatology. 60:1367-1377

Severe liver diseases are characterized by expansion of liver progenitor cells (LPC), which correlates with disease severity. However, the origin and role of LPC in liver physiology and in hepatic injury remains a contentious topic. We found that duc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b768dc0d9d4b45ce64b4e8531fb21937
https://doi.org/10.1002/hep.27078

Hnf1α (MODY3) Regulates β-Cell-Enriched MafA Transcription Factor Expression

Autor: Jorge Ferrer, Min Guo, Frederick H. Thompson, Chad S. Hunter, Miguel Angel Maestro, Roland Stein, Jeffrey C. Raum

Publikováno v: Molecular Endocrinology. 25:339-347

The expression pattern of genes important for pancreatic islet cell function requires the actions of cell-enriched transcription factors. Musculoaponeurotic fibrosarcoma homolog A (MafA) is a β-cell-specific transcriptional activator critical to adu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1726f4bbc89bb726ad2987ab3700d5a6
https://doi.org/10.1210/me.2010-0362

Pancreatic islet enhancer clusters enriched in type 2 diabetes risk-associated variants

Autor: Ferenc Müller, Lorenzo Piemonti, Mark I. McCarthy, Santiago A. Rodríguez-Seguí, Irene Miguel-Escalada, Ildem Akerman, François Pattou, Jorge Ferrer, Miguel Angel Maestro, Joan Ponsa-Cobas, Lorenzo Pasquali, Carlos Gómez-Marín, Martijn van de Bunt, Natalia Castro, Takao Nammo, Ignasi Moran, Anna L. Gloyn, Loris Mularoni, Javier García-Hurtado, José Luis Gómez Skarmeta, Philippe Ravassard, Juan J. Tena, Inês Cebola, Thierry Berney, Kyle J. Gaulton

Publikováno v: Nature Genetics, Vol. 46, No 2 (2014) pp. 136-43
Nature genetics, vol 46, iss 2
Digital.CSIC. Repositorio Institucional del CSIC
instname
Nature Genetics; Vol 46

PMCID: PMC3935450.-- et al.
Type 2 diabetes affects over 300 million people, causing severe complications and premature death, yet the underlying molecular mechanisms are largely unknown. Pancreatic islet dysfunction is central in type 2 diabete

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6036aed72c2a2deaf96892d35ac68e1
https://archive-ouverte.unige.ch/unige:39213