Now showing items 1-3 of 3

    • AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience. 

      Ramírez-Rentería, C.; Hernández-Ramírez, L. C.; Portocarrero-Ortiz, L.; Vargas, G.; Melgar, V.; Espinosa, E.; Espinosa-de-Los-Monteros, A. L.; Sosa, E.; González, B.; Zúñiga, S.; Unterländer, M.; Burger, J.; Stals, K.; Bussell, A-M.; Ellard, Sian; Dang, M.; Iacovazzo, D.; Kapur, S.; Gabrovska, P.; Radian, S.; Roncaroli, F.; Korbonits, M.; Mercado, M. (Springer, 2016-03-31)
      Although aryl hydrocarbon receptor-interacting protein (AIP) mutations are rare in sporadic acromegaly, their prevalence among young patients is nonnegligible. The objectives of this study were to evaluate the frequency ...
    • 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, Anna-Marie; Stals, Karen; Weber, A.; Quinton, R.; Crowne, E. C.; Corazzini, V.; Metherell, L.; Kearney, T.; Du Plessis, D.; Sinha, A. K.; Baborie, A.; Lecoq, A-L; Chanson, P.; Ansorge, O.; Ellard, Sian; Trainer, P. J.; Balding, D.; Thomas, M. G.; Korbonits, M. (BioScientifica, 2017-09)
      Mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene are associated with pituitary adenoma, acromegaly and gigantism. Identical alleles in unrelated pedigrees could be inherited from a common ancestor ...
    • Increased Population Risk of AIP-related Acromegaly and Gigantism in Ireland. 

      Radian, S.; Diekmann, Y.; Gabrovska, P.; Holland, B.; Bradley, L.; Wallace, H.; Stals, Karen; Bussell, Anna-Marie; McGurren, K.; Cuesta, M.; Ryan, A. W.; Herincs, M.; Hernández-Ramírez, L. C.; Holland, A.; Samuels, J.; Aflorei, E. D.; Barry, S.; Dénes, J.; Pernicova, I.; Stiles, C. E.; Trivellin, G.; McCloskey, R.; Azjensztejn, M.; Abid, N.; Akker, S. A.; Mercado, M.; Cohen, M.; Thakker, R. V.; Baldeweg, S.; Barkan, A.; Musat, M.; Levy, M. L.; Orme, S.; Unterländer, M.; Burger, J.; Kumar, A. V.; Ellard, Sian; McPartlin, J.; McManus, R.; Linden, G. J.; Atkinson, B.; Balding, D.; Agha, A.; Thompson, C. J.; Hunter, S. J.; Thomas, M. G.; Morrison, P. J.; Korbonits, M. (Wiley, 2016-09-21)
      The aryl hydrocarbon receptor interacting protein (AIP) founder mutation R304* (or p.R304*; NM_003977.3:c.910C>T, p.Arg304Ter) identified in Northern Ireland (NI) predisposes to acromegaly/gigantism; its population health ...