Browsing by Author "Ferrer, Jorge"

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  • CRISPR-based genome editing in primary human pancreatic islet cells
    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 ...
  • 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 ...
  • HNF1A recruits KDM6A to activate differentiated acinar cell programs that suppress pancreatic cancer
    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 ...
  • 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, ...
  • Integration of genetic and chemical screens to discover targeted therapies for HNF1 A-deficient diabetes
    Cuenca-Ardura, Mirabai (Universitat Pompeu Fabra, 2024-03-01)
    HNF1A encodes a key transcription factor in insulin-secreting beta cells from pancreatic islets. Heterozygous mutations in HNF1A cause monogenic diabetes, and hypomorphic variants in HNF1A increase the risk for type 2 ...
  • Mucosal transcriptomics highlight lncRNAs implicated in ulcerative colitis, Crohn's disease, and celiac disease
    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 ...
  • 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 ...
  • Pancreatic microexons regulate islet function and glucose homeostasis
    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 ...
  • Regulatory de novo mutations underlying intellectual disability
    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 ...
  • 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 ...
  • SOX17 enhancer variants disrupt transcription factor binding and enhancer inactivity drives pulmonary hypertension
    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 ...
  • The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A
    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 ...
  • TIGER: the gene expression regulatory variation landscape of human pancreatic islets
    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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