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Page 1
IER3IP1 mutations cause neonatal diabetes due to impaired proinsulin trafficking.
Montaser H, Leppänen S, Vähäkangas E, Bäck N, Grace A, Eurola S, Ibrahim H, Lithovius V, Stephens SB, Barsby T, Balboa D, Saarimäki-Vire J, Otonkoski T. Montaser H, et al. Among authors: balboa d. Diabetes. 2024 Oct 23:db240119. doi: 10.2337/db24-0119. Online ahead of print. Diabetes. 2024. PMID: 39441964
Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation.
Hilander T, Awadhpersad R, Monteuuis G, Broda KL, Pohjanpelto M, Pyman E, Singh SK, Nyman TA, Crevel I, Taylor RW, Saada A, Balboa D, Battersby BJ, Jackson CB, Carroll CJ. Hilander T, et al. Among authors: balboa d. iScience. 2024 Jun 4;27(7):110185. doi: 10.1016/j.isci.2024.110185. eCollection 2024 Jul 19. iScience. 2024. PMID: 39015150 Free PMC article.
Non-invasive quantification of stem cell-derived islet graft size and composition.
Lithovius V, Lahdenpohja S, Ibrahim H, Saarimäki-Vire J, Uusitalo L, Montaser H, Mikkola K, Yim CB, Keller T, Rajander J, Balboa D, Barsby T, Solin O, Nuutila P, Grönroos TJ, Otonkoski T. Lithovius V, et al. Among authors: balboa d. Diabetologia. 2024 Sep;67(9):1912-1929. doi: 10.1007/s00125-024-06194-5. Epub 2024 Jun 14. Diabetologia. 2024. PMID: 38871836 Free PMC article.
Genomic surveillance of SARS-CoV-2 evolution by a centralised pipeline and weekly focused sequencing, Austria, January 2021 to March 2023.
Frank O, Balboa DA, Novatchkova M, Özkan E, Strobl MM, Yelagandula R, Albanese TG, Endler L, Amman F, Felsenstein V, Gavrilovic M, Acosta M, Patocka T, Vogt A, Tamir I, Klikovits J, Zoufaly A, Seitz T, Födinger M, Bergthaler A, Indra A, Schmid D, Klimek P, Stark A, Allerberger F, Benka B, Reich K, Cochella L, Elling U. Frank O, et al. Among authors: balboa da. Euro Surveill. 2024 Jun;29(23):2300542. doi: 10.2807/1560-7917.ES.2024.29.23.2300542. Euro Surveill. 2024. PMID: 38847119 Free PMC article.
RFX6 haploinsufficiency predisposes to diabetes through impaired beta cell function.
Ibrahim H, Balboa D, 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. Ibrahim H, et al. Among authors: balboa d. Diabetologia. 2024 Aug;67(8):1642-1662. doi: 10.1007/s00125-024-06163-y. Epub 2024 May 14. Diabetologia. 2024. PMID: 38743124 Free PMC article.
Efficient Vascular and Neural Engraftment of Stem Cell-Derived Islets.
Thorngren J, Brboric A, Vasylovska S, Hjelmqvist D, Westermark GT, Saarimäki-Vire J, Kvist J, Balboa D, Otonkoski T, Carlsson PO, Lau J. Thorngren J, et al. Among authors: balboa d. Diabetes. 2024 Jul 1;73(7):1127-1139. doi: 10.2337/db23-0123. Diabetes. 2024. PMID: 38603470 Free PMC article.
Primate-specific ZNF808 is essential for pancreatic development in humans.
De Franco E, Owens NDL, Montaser H, Wakeling MN, Saarimäki-Vire J, Triantou A, Ibrahim H, Balboa D, Caswell RC, Jennings RE, Kvist JA, Johnson MB, Muralidharan S, Ellard S, Wright CF, Maddirevula S, Alkuraya FS; Pancreatic Agenesis Gene Discovery Consortium; Hanley NA, Flanagan SE, Otonkoski T, Hattersley AT, Imbeault M. De Franco E, et al. Among authors: balboa d. Nat Genet. 2023 Dec;55(12):2075-2081. doi: 10.1038/s41588-023-01565-x. Epub 2023 Nov 16. Nat Genet. 2023. PMID: 37973953 Free PMC article.
The type 1 diabetes gene TYK2 regulates β-cell development and its responses to interferon-α.
Chandra V, Ibrahim H, Halliez C, Prasad RB, Vecchio F, Dwivedi OP, Kvist J, Balboa D, Saarimäki-Vire J, Montaser H, Barsby T, Lithovius V, Artner I, Gopalakrishnan S, Groop L, Mallone R, Eizirik DL, Otonkoski T. Chandra V, et al. Among authors: balboa d. Nat Commun. 2022 Oct 26;13(1):6363. doi: 10.1038/s41467-022-34069-z. Nat Commun. 2022. PMID: 36289205 Free PMC article.
The HASTER lncRNA promoter is a cis-acting transcriptional stabilizer of HNF1A.
Beucher A, Miguel-Escalada I, Balboa D, De Vas MG, Maestro MA, Garcia-Hurtado J, Bernal A, Gonzalez-Franco R, Vargiu P, Heyn H, Ravassard P, Ortega S, Ferrer J. Beucher A, et al. Among authors: balboa d. Nat Cell Biol. 2022 Oct;24(10):1528-1540. doi: 10.1038/s41556-022-00996-8. Epub 2022 Oct 6. Nat Cell Biol. 2022. PMID: 36202974 Free PMC article.
Differentiating functional human islet-like aggregates from pluripotent stem cells.
Barsby T, Ibrahim H, Lithovius V, Montaser H, Balboa D, Vähäkangas E, Chandra V, Saarimäki-Vire J, Otonkoski T. Barsby T, et al. Among authors: balboa d. STAR Protoc. 2022 Dec 16;3(4):101711. doi: 10.1016/j.xpro.2022.101711. Epub 2022 Sep 21. STAR Protoc. 2022. PMID: 36136756 Free PMC article.
42 results