Browsing by Author "Balboa, Diego"

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  • Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells
    Lund, Carina; Yellapragada, Venkatram; Vuoristo, Sanna; Balboa, Diego; Trova, Sara; Allet, Cecile; Eskici, Nazli; Pulli, Kristiina; Giacobini, Paolo; Tuuri, Timo; Raivio, Taneli (Company of Biologists, 2020)
    Gonadotropin-releasing hormone (GnRH) neurons provide a fundamental signal for the onset of puberty and subsequent reproductive functions by secretion of gonadotropin-releasing hormone. Their disrupted development or ...
  • CRISPR activation enables high-fidelity reprogramming into human pluripotent stem cells
    Sokka, Joonas; Yoshihara, Masahito; Kvist, Jouni; Laiho, Laura; Warren, Andrew; Stadelmann, Christian; Jouhilahti, Eeva-Mari; Kilpinen, Helena; Balboa, Diego; Katayama, Shintaro; Kyttälä, Aija; Kere, Juha; Otonkoski, Timo; Weltner, Jere; Trokovic, Ras (Elsevier, 2022)
    Conventional reprogramming methods rely on the ectopic expression of transcription factors to reprogram somatic cells into induced pluripotent stem cells (iPSCs). The forced expression of transcription factors may lead to ...
  • Differentiating functional human islet-like aggregates from pluripotent stem cells
    Barsby, Tom; Ibrahim, Hazem; Lithovius, Väinö; Montaser, Hossam; Balboa, Diego; Vähäkangas, Eliisa; Chandra, Vikash; Saarimäki-Vire, Jonna; Otonkoski, Timo (Elsevier, 2022)
    We present here a robust and reliable protocol by which to differentiate pancreatic islet-like aggregates (SC-islets) from human pluripotent stem cells. The 7-stage protocol mimics developmental patterning factors that ...
  • From research to rapid response: mass COVID-19 testing by volunteers at the Centre for Genomic Regulation
    Ghose, Ritobrata; Aranguren-Ibáñez, Álvaro; Arecco, Niccolò; Balboa, Diego; Bataller, Marc; Beltran, Sergi; Benisty, Hannah, 1986-; Bénard, Angèle; Bernardo, Edgar; Carbonell Sala, Silvia; Casals, Eloi; Ciampi, Ludovica; Condemi, Livia; Corvò, Alberto; Cosín Tomàs, Marta; Cuenca-Ardura, Mirabai; Duran Serrano, Juan Manuel; Espejo Díaz, María Isabel; Fernández Callejo, Marcos; Gañez-Zapater, Antoni; Garcia-Castellanos, Raquel; Garrido, Romina; Henkin, Gil; Hermoso Pulido, Antonio; Hernandez-Alias, Xavier; Herrero Vicente, Jorge; Ingham, Matthew; Lim, Wei Ming; Llonch, Sílvia; Marmesat Bertoli, Elena; Miguel Escalada, Irene; Montero-Blay, Ariadna, 1994-; Navarrete Hernández, Cristina; Neguembor, Maria Victoria; Ní Chárthaigh, Róisín-Ana; Pardo-Lorente, Natalia; Pascual-Reguant, Laura, 1990-; Pérez-Lluch, Sílvia; Perza, Reyes; Pesaresi, Martina, 1991-; Picó Amado, Daniel; Pifarré, Paula; Piscia, Davide; Plana-Carmona, Marcos; Ponomarenko, Julia; Radusky, Leandro; Rivero, Ezequiel; Rogalska, Malgorzata; Torcal Garcia, Guillem, 1991-; Wojnacki, José (F1000Research, 2020)
    The COVID-19 pandemic has posed and is continuously posing enormous societal and health challenges worldwide. The research community has mobilized to develop novel projects to find a cure or a vaccine, as well as to ...
  • Functional, metabolic and transcriptional maturation of human pancreatic islets derived from stem cells
    Balboa, Diego (Nature Research, 2022)
    Transplantation of pancreatic islet cells derived from human pluripotent stem cells is a promising treatment for diabetes. Despite progress in the generation of stem-cell-derived islets (SC-islets), no detailed characterization ...
  • Genome editing of human pancreatic beta cell models: problems, possibilities and outlook
    Balboa, Diego; Prasad, Rashmi B.; Groop, Leif; Otonkoski, Timo (Springer, 2019)
    Understanding the molecular mechanisms behind beta cell dysfunction is essential for the development of effective and specific approaches for diabetes care and prevention. Physiological human beta cell models are needed ...
  • Human pluripotent stem cells to model islet defects in diabetes
    Balboa, Diego; Iworima, Diepiriye G.; Kieffer, Timothy J. (Frontiers Media, 2021)
    Diabetes mellitus is characterized by elevated levels of blood glucose and is ultimately caused by insufficient insulin production from pancreatic beta cells. Different research models have been utilized to unravel the ...
  • Loss of MANF causes childhood-onset syndromic diabetes due to increased endoplasmic reticulum stress
    Montaser, Hossam; Patel, Kashyap A.; Balboa, Diego; Ibrahim, Hazem; Lithovius, Väinö; Näätänen, Anna; Chandra, Vikash; Demir, Korcan; Acar, Sezer; Ben-Omran, Tawfeg; Colclough, Kevin; Locke, Jonathan M; Wakeling, Matthew; Lindahl, Maria; Hattersley, Andrew T.; Saarimäki-Vire, Jonna; Otonkoski, Timo (American Diabetes Association, 2021)
    Mesencephalic astrocyte-derived neurotrophic factor (MANF) is an endoplasmic reticulum (ER)-resident protein that plays a crucial role in attenuating ER stress responses. Although MANF is indispensable for the survival and ...
  • 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 ...
  • Primate-specific ZNF808 is essential for pancreatic development in humans
    Franco, Elisa de; Balboa, Diego; Imbeault, Michael (Nature Research, 2023)
    Identifying genes linked to extreme phenotypes in humans has the potential to highlight biological processes not shared with all other mammals. Here, we report the identification of homozygous loss-of-function variants in ...
  • 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 ...
  • The type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α
    Chandra, Vikash; Ibrahim, Hazem; Halliez, Clémentine; Prasad, Rashmi B.; Vecchio, Federica; Dwivedi, Om Prakash; Kvist, Jouni; Balboa, Diego; Saarimäki-Vire, Jonna; Montaser, Hossam; Barsby, Tom; Lithovius, Väinö; Artner, Isabella; Gopalakrishnan, Swetha; Groop, Leif; Mallone, Roberto; Eizirik, Décio L.; Otonkoski, Timo (Nature Research, 2022)
    Type 1 diabetes (T1D) is an autoimmune disease that results in the destruction of insulin producing pancreatic β-cells. One of the genes associated with T1D is TYK2, which encodes a Janus kinase with critical roles in ...

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