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A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Keselman AC, Martin A, Scaglia PA, Sanguineti NM, Armando R, Gutiérrez M, Braslavsky D, Ballerini MG, Ropelato MG, Ramirez L, Landi E, Domené S, Castro JF, Cassinelli H, Casali B, Del Rey G, Barros ÁC, Nevado Blanco J, Domené H, Jasper H, Arberas C, Rey RA, Lapunzina-Badía P, Bergadá I, Pennisi PA. Keselman AC, et al. Among authors: gutierrez m. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.
Scaglia PA, Keselman AC, Braslavsky D, Martucci LC, Karabatas LM, Domené S, Gutiérrez ML, Ballerini MG, Ropelato MG, Spinola-Castro A, Siviero-Miachon AA, Tartuci JS, Rodríguez Azrak MS, Rey RA, Jasper HG, Bergadá I, Domené HM. Scaglia PA, et al. Among authors: gutierrez ml. Clin Endocrinol (Oxf). 2017 Sep;87(3):300-311. doi: 10.1111/cen.13361. Epub 2017 Jun 14. Clin Endocrinol (Oxf). 2017. PMID: 28445628
Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations.
Gutiérrez M, Scaglia P, Keselman A, Martucci L, Karabatas L, Domené S, Martin A, Pennisi P, Blanco M, Sanguineti N, Bezrodnik L, Di Giovanni D, Caldirola MS, Azcoiti ME, Gaillard MI, Denson LA, Zhang K, Husami A, Yayah Jones NH, Hwa V, Revale S, Vázquez M, Jasper H, Kumar A, Domené H. Gutiérrez M, et al. Mol Cell Endocrinol. 2018 Sep 15;473:166-177. doi: 10.1016/j.mce.2018.01.016. Epub 2018 Feb 3. Mol Cell Endocrinol. 2018. PMID: 29378236 Free PMC article.
A novel heterozygous STAT5B variant in a patient with short stature and partial growth hormone insensitivity (GHI).
Ramírez L, Sanguineti N, Scaglia P, Keselman A, Ballerini MG, Karabatas L, Landi E, Castro J, Domené S, Pennisi P, Jasper H, Rey RA, Vázquez M, Domené H, Bergadá I, Gutiérrez M. Ramírez L, et al. Among authors: gutierrez m. Growth Horm IGF Res. 2020 Feb;50:61-70. doi: 10.1016/j.ghir.2019.12.005. Epub 2019 Dec 27. Growth Horm IGF Res. 2020. PMID: 31902742
Type 1 Insulin-Like Growth Factor Receptor Nuclear Localization in High-Grade Glioma Cells Enhances Motility, Metabolism, and In Vivo Tumorigenesis.
Martin A, Fernandez MC, Cattaneo ER, Schuster CD, Venara M, Clément F, Berenstein A, Lombardi MG, Bergadá I, Gutierrez M, Martí MA, Gonzalez-Baro MR, Pennisi PA. Martin A, et al. Among authors: gutierrez m. Front Endocrinol (Lausanne). 2022 Apr 27;13:849279. doi: 10.3389/fendo.2022.849279. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35574033 Free PMC article.
3,088 results