Browsing by Author "García-Hurtado, Javier"

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  • Genetic regulation of RNA splicing in human pancreatic islets
    Atla, Goutham; Bonàs-Guarch, Silvia; Cuenca-Ardura, Mirabai; Beucher, Anthony; Crouch, Daniel J.M.; García-Hurtado, Javier; Moran, Ignasi; T2DSystems Consortium; Irimia Martínez, Manuel; Prasad, Rashmi B.; Gloyn, Anna L.; Marselli, Lorella; Suleiman, Mara; Berney, Thierry; Koning, Eelco J.P. de; Kerr-Conte, Julie; Pattou, Francois; Todd, John A.; Piemonti, Lorenzo; Ferrer, Jorge (BioMed Central, 2022)
    Background: Non-coding genetic variants that influence gene transcription in pancreatic islets play a major role in the susceptibility to type 2 diabetes (T2D), and likely also contribute to type 1 diabetes (T1D) risk. For ...
  • Human pancreatic islet three-dimensional chromatin architecture provides insights into the genetics of type 2 diabetes
    Miguel Escalada, Irene; Bonàs-Guarch, Silvia; Mendieta Esteban, Julen, 1992-; Atla, Goutham; Farabella, Irene; Morgan, Claire C.; García-Hurtado, Javier; Morán, Ignasi; Torrents, David; Mercader Bigas, Josep Maria; Marti-Renom, Marc A.; Ferrer, Jorge (Nature Research, 2019)
    Genetic studies promise to provide insight into the molecular mechanisms underlying type 2 diabetes (T2D). Variants associated with T2D are often located in tissue-specific enhancer clusters or super-enhancers. So far, ...
  • Neonatal diabetes mutations disrupt a chromatin pioneering function that activates the human insulin gene
    Akerman, Ildem; Maestro, Miguel Ángel; De Franco, Elisa; Grau, Vanessa; Flanagan, Sarah; García-Hurtado, Javier; Mittler, Gerhard; Ravassard, Philippe; Piemonti, Lorenzo; Ellard, Sian; Hattersley, Andrew T.; Ferrer, Jorge (Elsevier, 2021)
    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 ...
  • Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster
    Miguel Escalada, Irene; Maestro, Miguel Ángel; Balboa, Diego; Elek, Anamaria; Bernal, Aina; Bernardo, Edgar; Grau, Vanessa; García-Hurtado, Javier; Sebé-Pedrós, Arnau; Ferrer, Jorge (Elsevier, 2022)
    Sequence variants in cis-acting enhancers are important for polygenic disease, but their role in Mendelian disease is poorly understood. Redundancy between enhancers that regulate the same gene is thought to mitigate the ...
  • REST is a major negative regulator of endocrine differentiation during pancreas organogenesis
    Rovira Clusellas, Meritxell; Atla, Goutham; Maestro, Miguel Ángel; Grau, Vanessa; García-Hurtado, Javier; Maqueda, Maria; Mosquera, Jose Luis; Yamada, Yasuhiro; Kerr-Conte, Julie; Pattou, Francois; Ferrer, Jorge (Cold Spring Harbor Laboratory Press (CSHL Press), 2021)
    Multiple transcription factors have been shown to promote pancreatic β-cell differentiation, yet much less is known about negative regulators. Earlier epigenomic studies suggested that the transcriptional repressor REST ...

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