Browsing by Author "Ferrer, Jorge"

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  • Bevacqua, Romina J.; Dai, Xiaoqing; Lam, Jonathan Y.; Gu, Xueying; Friedlander, Mollie S. H.; Tellez, Krissie; Miguel Escalada, Irene; Bonàs-Guarch, Silvia; Atla, Goutham; Zhao, Weichen; Kim, Seung Hyun; Dominguez, Antonia A.; Qi, Lei S.; Ferrer, Jorge; MacDonald, Patrick E.; Kim, Seung K. (Nature Research, 2021)
    Gene targeting studies in primary human islets could advance our understanding of mechanisms driving diabetes pathogenesis. Here, we demonstrate successful genome editing in primary human islets using clustered regularly ...
  • 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 ...
  • Kalisz, Mark; Bernardo, Edgar; Maestro, Miguel Ángel; Grau, Vanessa; Real, Francisco X.; Ferrer, Jorge (EMBO Press, 2020)
    Defects in transcriptional regulators of pancreatic exocrine differentiation have been implicated in pancreatic tumorigenesis, but the molecular mechanisms are poorly understood. The locus encoding the transcription factor ...
  • 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, ...
  • Braun, Tzipi; Ferrer, Jorge; Haberman, Yael (American Society for Clinical Investigation, 2023)
    Ulcerative colitis (UC), Crohn's disease (CD), and celiac disease are prevalent intestinal inflammatory disorders with nonsatisfactory therapeutic interventions. Analyzing patient data-driven cohorts can highlight disease ...
  • 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 ...
  • 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 ...
  • Juan-Mateu, Jonàs; Bajew, Simon, 1994-; Miret-Cuesta, Marta; Íñiguez, Luis P.; Lopez-Pascual, Amaya; Bonnal, Sophie; Atla, Goutham; Bonàs-Guarch, Silvia; Ferrer, Jorge; Valcárcel, J. (Juan); Irimia Martínez, Manuel (Nature Research, 2023)
    Pancreatic islets control glucose homeostasis by the balanced secretion of insulin and other hormones, and their abnormal function causes diabetes or hypoglycaemia. Here we uncover a conserved programme of alternative ...
  • Vas, Matías G. de; Boulet, Fanny; Joshi, Shweta S.; Garstang, Myles G.; Khan, Tahir N.; Atla, Goutham; Parry, David; Moore, David; Cebola, Inês; Zhang, Shuchen; Cui, Wei, 1970-; Lampe, Anne K.; Lam, Wayne W.; Genomics England Research Consortium; Ferrer, Jorge; Pradeepa, Madapura M.; Atanur, Santosh S. (Life Science Alliance, 2023)
    The genetic aetiology of a major fraction of patients with intellectual disability (ID) remains unknown. De novo mutations (DNMs) in protein-coding genes explain up to 40% of cases, but the potential role of regulatory ...
  • 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 ...
  • Walters, Rachel; Vasilaki, Eleni; Arman, Jurjan; Chen, Chien-Nien; Wu, Yukyee; Liang, Olin D.; Ashek, Ali; Dubois, Olivier; Zhao, Lin; Sabrin, Farah; Cebola, Inês; Ferrer, Jorge; Morrell, Nicholas W.; Klinger, James R.; Wilkins, Martin R.; Zhao, Lan; Rhodes, Christopher J. (Wolters Kluwer (LWW), 2023)
    Background: Pulmonary arterial hypertension (PAH) is a rare disease characterized by remodeling of the pulmonary arteries, increased vascular resistance, and right-sided heart failure. Genome-wide association studies of ...
  • Beucher, Anthony; Miguel Escalada, Irene; Balboa, Diego; Vas, Matías G. de; Maestro, Miguel Ángel; Garcia-Hurtado, Javier; Bernal, Aina; González-Franco, Roser; Vargiu, Pierfrancesco; Heyn, Holger; Ravassard, Philippe; Ortega, Sagrario; Ferrer, Jorge (Nature Research, 2022)
    The biological purpose of long non-coding RNAs (lncRNAs) is poorly understood. Haploinsufficient mutations in HNF1A homeobox A (HNF1A), encoding a homeodomain transcription factor, cause diabetes mellitus. Here, we examine ...
  • Alonso, Lorena; Ferrer, Jorge; Torrents, David (Elsevier, 2021)
    Genome-wide association studies (GWASs) identified hundreds of signals associated with type 2 diabetes (T2D). To gain insight into their underlying molecular mechanisms, we have created the translational human pancreatic ...

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