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Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase.
Leiter SM, Parker VER, Welters A, Knox R, Rocha N, Clark G, Payne F, Lotta L, Harris J, Guerrero-Fernández J, González-Casado I, García-Miñaur S, Gordo G, Wareham N, Martínez-Glez V, Allison M, O'Rahilly S, Barroso I, Meissner T, Davies S, Hussain K, Temple K, Barreda-Bonis AC, Kummer S, Semple RK. Leiter SM, et al. Eur J Endocrinol. 2017 Aug;177(2):175-186. doi: 10.1530/EJE-17-0132. Epub 2017 May 31. Eur J Endocrinol. 2017. PMID: 28566443 Free PMC article.
An expanded clinical spectrum of hypoinsulinaemic hypoketotic hypoglycaemia.
Welters A, Leiter SM, Bachmann N, Bergmann C, Hoermann H, Korsch E, Meissner T, Payne F, Williams R, Hussain K, Semple RK, Kummer S. Welters A, et al. Among authors: leiter sm. Orphanet J Rare Dis. 2023 Nov 16;18(1):360. doi: 10.1186/s13023-023-02954-5. Orphanet J Rare Dis. 2023. PMID: 37974153 Free PMC article.
A toolbox for class I HDACs reveals isoform specific roles in gene regulation and protein acetylation.
Hess L, Moos V, Lauber AA, Reiter W, Schuster M, Hartl N, Lackner D, Boenke T, Koren A, Guzzardo PM, Gundacker B, Riegler A, Vician P, Miccolo C, Leiter S, Chandrasekharan MB, Vcelkova T, Tanzer A, Jun JQ, Bradner J, Brosch G, Hartl M, Bock C, Bürckstümmer T, Kubicek S, Chiocca S, Bhaskara S, Seiser C. Hess L, et al. Among authors: leiter s. PLoS Genet. 2022 Aug 22;18(8):e1010376. doi: 10.1371/journal.pgen.1010376. eCollection 2022 Aug. PLoS Genet. 2022. PMID: 35994477 Free PMC article.