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Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations.
Hernández-Ramírez LC, Martucci F, Morgan RM, Trivellin G, Tilley D, Ramos-Guajardo N, Iacovazzo D, D'Acquisto F, Prodromou C, Korbonits M. Hernández-Ramírez LC, et al. Among authors: iacovazzo d, d acquisto f. J Clin Endocrinol Metab. 2016 Aug;101(8):3144-54. doi: 10.1210/jc.2016-1307. Epub 2016 Jun 2. J Clin Endocrinol Metab. 2016. PMID: 27253664 Free PMC article.
Risk category system to identify pituitary adenoma patients with AIP mutations.
Caimari F, Hernández-Ramírez LC, Dang MN, Gabrovska P, Iacovazzo D, Stals K, Ellard S, Korbonits M; International FIPA consortium. Caimari F, et al. Among authors: iacovazzo d. J Med Genet. 2018 Apr;55(4):254-260. doi: 10.1136/jmedgenet-2017-104957. Epub 2018 Feb 10. J Med Genet. 2018. PMID: 29440248 Free PMC article.
Surgery, Octreotide, Temozolomide, Bevacizumab, Radiotherapy, and Pegvisomant Treatment of an AIP Mutation‒Positive Child.
Dutta P, Reddy KS, Rai A, Madugundu AK, Solanki HS, Bhansali A, Radotra BD, Kumar N, Collier D, Iacovazzo D, Gupta P, Raja R, Gowda H, Pandey A, Devgun JS, Korbonits M. Dutta P, et al. Among authors: iacovazzo d. J Clin Endocrinol Metab. 2019 Aug 1;104(8):3539-3544. doi: 10.1210/jc.2019-00432. J Clin Endocrinol Metab. 2019. PMID: 31125088 Free PMC article.
Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors.
Marques P, Caimari F, Hernández-Ramírez LC, Collier D, Iacovazzo D, Ronaldson A, Magid K, Lim CT, Stals K, Ellard S, Grossman AB, Korbonits M; FIPA Consortium. Marques P, et al. Among authors: iacovazzo d. J Clin Endocrinol Metab. 2020 Jun 1;105(6):e2247-60. doi: 10.1210/clinem/dgaa040. J Clin Endocrinol Metab. 2020. PMID: 31996917 Free PMC article.
AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience.
Ramírez-Rentería C, Hernández-Ramírez LC, Portocarrero-Ortiz L, Vargas G, Melgar V, Espinosa E, Espinosa-de-Los-Monteros AL, Sosa E, González B, Zúñiga S, Unterländer M, Burger J, Stals K, Bussell AM, Ellard S, Dang M, Iacovazzo D, Kapur S, Gabrovska P, Radian S, Roncaroli F, Korbonits M, Mercado M. Ramírez-Rentería C, et al. Among authors: iacovazzo d. Endocrine. 2016 Aug;53(2):402-11. doi: 10.1007/s12020-016-0930-9. Epub 2016 Mar 31. Endocrine. 2016. PMID: 27033541
Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.
Iacovazzo D, Caswell R, Bunce B, Jose S, Yuan B, Hernández-Ramírez LC, Kapur S, Caimari F, Evanson J, Ferraù F, Dang MN, Gabrovska P, Larkin SJ, Ansorge O, Rodd C, Vance ML, Ramírez-Renteria C, Mercado M, Goldstone AP, Buchfelder M, Burren CP, Gurlek A, Dutta P, Choong CS, Cheetham T, Trivellin G, Stratakis CA, Lopes MB, Grossman AB, Trouillas J, Lupski JR, Ellard S, Sampson JR, Roncaroli F, Korbonits M. Iacovazzo D, et al. Acta Neuropathol Commun. 2016 Jun 1;4(1):56. doi: 10.1186/s40478-016-0328-1. Acta Neuropathol Commun. 2016. PMID: 27245663 Free PMC article.
Gigantism: X-linked acrogigantism and GPR101 mutations.
Iacovazzo D, Korbonits M. Iacovazzo D, et al. Growth Horm IGF Res. 2016 Oct-Dec;30-31:64-69. doi: 10.1016/j.ghir.2016.09.007. Epub 2016 Sep 29. Growth Horm IGF Res. 2016. PMID: 27743704 Review.
In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism.
Salvatori R, Radian S, Diekmann Y, Iacovazzo D, David A, Gabrovska P, Grassi G, Bussell AM, Stals K, Weber A, Quinton R, Crowne EC, Corazzini V, Metherell L, Kearney T, Du Plessis D, Sinha AK, Baborie A, Lecoq AL, Chanson P, Ansorge O, Ellard S, Trainer PJ, Balding D, Thomas MG, Korbonits M. Salvatori R, et al. Among authors: iacovazzo d. Eur J Endocrinol. 2017 Sep;177(3):257-266. doi: 10.1530/EJE-17-0293. Epub 2017 Jun 20. Eur J Endocrinol. 2017. PMID: 28634279 Free PMC article.
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