Browsing by Author "Atla, Goutham"

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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 ...
  • 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, ...
  • 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 ...

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