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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: martin a. Eur J Endocrinol. 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. Eur J Endocrinol. 2019. PMID: 31539878
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. Among authors: martin a. 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.
VHL-P138R and VHL-L163R Novel Variants: Mechanisms of VHL Pathogenicity Involving HIF-Dependent and HIF-Independent Actions.
Mathó C, Fernández MC, Bonanata J, Liu XD, Martin A, Vieites A, Sansó G, Barontini M, Jonasch E, Coitiño EL, Pennisi PA. Mathó C, et al. Among authors: martin a. Front Endocrinol (Lausanne). 2022 Mar 21;13:854365. doi: 10.3389/fendo.2022.854365. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35388293 Free PMC article.
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. 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.
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