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Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Gaston-Massuet C, McCabe MJ, Scagliotti V, Young RM, Carreno G, Gregory LC, Jayakody SA, Pozzi S, Gualtieri A, Basu B, Koniordou M, Wu CI, Bancalari RE, Rahikkala E, Veijola R, Lopponen T, Graziola F, Turton J, Signore M, Mousavy Gharavy SN, Charolidi N, Sokol SY, Andoniadou CL, Wilson SW, Merrill BJ, Dattani MT, Martinez-Barbera JP. Gaston-Massuet C, et al. Among authors: gualtieri a. Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):E548-57. doi: 10.1073/pnas.1503346113. Epub 2016 Jan 13. Proc Natl Acad Sci U S A. 2016. PMID: 26764381 Free PMC article.
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
Gualtieri A, Kyprianou N, Gregory LC, Vignola ML, Nicholson JG, Tan R, Inoue SI, Scagliotti V, Casado P, Blackburn J, Abollo-Jimenez F, Marinelli E, Besser REJ, Högler W, Karen Temple I, Davies JH, Gagunashvili A, Robinson ICAF, Camper SA, Davis SW, Cutillas PR, Gevers EF, Aoki Y, Dattani MT, Gaston-Massuet C. Gualtieri A, et al. Nat Commun. 2021 Apr 1;12(1):2028. doi: 10.1038/s41467-021-21712-4. Nat Commun. 2021. PMID: 33795686 Free PMC article.
Novel application of luciferase assay for the in vitro functional assessment of KAL1 variants in three females with septo-optic dysplasia (SOD).
McCabe MJ, Hu Y, Gregory LC, Gaston-Massuet C, Alatzoglou KS, Saldanha JW, Gualtieri A, Thankamony A, Hughes I, Townshend S, Martinez-Barbera JP, Bouloux PM, Dattani MT. McCabe MJ, et al. Among authors: gualtieri a. Mol Cell Endocrinol. 2015 Dec 5;417:63-72. doi: 10.1016/j.mce.2015.09.010. Epub 2015 Sep 14. Mol Cell Endocrinol. 2015. PMID: 26375424 Free PMC article.
Cell death and cell proliferation in human spina bifida.
Avagliano L, Doi P, Tosi D, Scagliotti V, Gualtieri A, Gaston-Massuet C, Pistocchi A, Gallina A, Marconi AM, Bulfamante G, Massa V. Avagliano L, et al. Among authors: gualtieri a. Birth Defects Res A Clin Mol Teratol. 2016 Feb;106(2):104-13. doi: 10.1002/bdra.23466. Epub 2015 Dec 10. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26663582
Stem Cells, Self-Renewal, and Lineage Commitment in the Endocrine System.
Mariniello K, Ruiz-Babot G, McGaugh EC, Nicholson JG, Gualtieri A, Gaston-Massuet C, Nostro MC, Guasti L. Mariniello K, et al. Among authors: gualtieri a. Front Endocrinol (Lausanne). 2019 Nov 8;10:772. doi: 10.3389/fendo.2019.00772. eCollection 2019. Front Endocrinol (Lausanne). 2019. PMID: 31781041 Free PMC article. Review.
Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications.
Ewans LJ, Colley A, Gaston-Massuet C, Gualtieri A, Cowley MJ, McCabe MJ, Anand D, Lachke SA, Scietti L, Forneris F, Zhu Y, Ying K, Walsh C, Kirk EP, Miller D, Giunta C, Sillence D, Dinger M, Buckley M, Roscioli T. Ewans LJ, et al. Among authors: gualtieri a. J Med Genet. 2019 Sep;56(9):629-638. doi: 10.1136/jmedgenet-2019-106019. Epub 2019 May 25. J Med Genet. 2019. PMID: 31129566 Review.
In vitro cyto- and geno-toxicity of asbestiform erionite from New Zealand.
Scarfì S, Almonti V, Mirata S, Passalacqua M, Vernazza S, Patel JP, Brook M, Hamilton A, Kah M, Gualtieri AF. Scarfì S, et al. Among authors: gualtieri af. Environ Res. 2024 Nov 21:120415. doi: 10.1016/j.envres.2024.120415. Online ahead of print. Environ Res. 2024. PMID: 39579848 Free article.
143 results