Publications

Functional, metabolic and transcriptional maturation of human pancreatic islets derived from stem cells

Diego Balboa, Barsby T, Lithovius V, Saarimäki-Vire J, Omar-Hmeadi M, Dyachok O, Montaser H, Lund P, Yang M, Ibrahim H, Näätänen A, Chandra V, Vihinen H, Jokitalo E, Kvist J, Ustinov J, Nieminen A, Kuuluvainen E, Hietakangas V, Katajisto P, Lau J, Carlsson P, Barg S, Tengholm A, Otonkoski T.
Nature Biotechnology 40: 1042-1055, 2022.

Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster

Miguel-Escalada I, Maestro MÁ, Diego Balboa, Elek A, Bernal A, Bernardo E, Grau V, García-Hurtado J, Sebé-Pedrós A, Ferrer J.
Developmental Cell 57: 1922-1936.E9, 2022

RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function

Ibrahim H, Diego Balboa, Saarimäki-Vire J, Montaser H, Dyachok O, Lund PE, Omar-Hmeadi M, Kvist J, Dwivedi OP, Lithovius V, Barsby T, Chandra V, Eurola S, Ustinov J, Tuomi T, Miettinen PJ, Barg S, Tengholm A, Otonkoski T.
Diabetologia 67: 1642-1662, 2024.

Insulin mutations impair beta-cell development in a patient-derived iPSC model of neonatal diabetes

Diego Balboa, Saarimäki-Vire J, Borshagovski D, Survila M, Lindholm P, Galli E, Eurola S, Ustinov J, Grym H, Huopio H, Partanen J, Wartiovaara K, Otonkoski T.
eLife 7: e38519, 2018.

Human pluripotent reprogramming with CRISPR activators

Weltner J, Diego Balboa, Katayama S, Bespalov M, Krjutskov K, Jouhilahti E, Trokovic R, Kere J, Otonkoski T.
Nature Communications 9: 2643, 2018.