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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. 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.
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. 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. 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
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. 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.
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. 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.
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.
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto KH, Nagano M, Shigeyoshi Y, Pfeifer M, Hulse T, Buchanan CR, Pitteloud N, Martinez-Barbera JP, Dattani MT. McCabe MJ, et al. J Clin Endocrinol Metab. 2013 Mar;98(3):E547-57. doi: 10.1210/jc.2012-3067. Epub 2013 Feb 5. J Clin Endocrinol Metab. 2013. PMID: 23386640 Free PMC article.
44 results