Browsing by Author "Bonàs-Guarch, Silvia"

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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 ...
  • Genome-wide association study meta-analysis identifies five new loci for systemic lupus erythematosus
    Julià, Antonio; Bonàs-Guarch, Silvia; Mercader Bigas, Josep Maria; Torrents, David; Fernández-Nebro, Antonio (BioMed Central, 2018)
    Background: Systemic lupus erythematosus (SLE) is a common systemic autoimmune disease with a complex genetic inheritance. Genome-wide association studies (GWAS) have significantly increased the number of significant loci ...
  • 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, ...
  • Multiple genetic variants at the SLC30A8 locus affect local super-enhancer activity and influence pancreatic β-cell survival and function
    Hu, Ming; Kim, Innah; Morán, Ignasi; Peng, Weicong; Sun, Orien; Bonnefond, Amélie; Khamis, Amna; Bonàs-Guarch, Silvia; Froguel, Philippe; Rutter, Guy A. (Wiley, 2024)
    Variants at the SLC30A8 locus are associated with type 2 diabetes (T2D) risk. The lead variant, rs13266634, encodes an amino acid change, Arg325Trp (R325W), at the C-terminus of the secretory granule-enriched zinc transporter, ...
  • 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 ...
  • The impact of non-additive genetic associations on age-related complex diseases
    Guindo Martínez, Marta; Bonàs-Guarch, Silvia; Miguel Escalada, Irene; Torrents, David (Nature Research, 2021)
    Genome-wide association studies (GWAS) are not fully comprehensive, as current strategies typically test only the additive model, exclude the X chromosome, and use only one reference panel for genotype imputation. We ...

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