Browsing Centre for Endocrinology by Author "Gabrovska, P"
Now showing items 1-9 of 9
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AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience
Ramirez-Renteria, C; Hernandez-Ramirez, LC; Portocarrero-Ortiz, L; Vargas, G; Melgar, V; Espinosa, E; Laura Espinosa-de-los-Monteros, A; Sosa, E; Gonzalez, B; Zuniga, S (2016-08) -
ESR2 mutations in RET mutation-negative familial medullary thyroid carcinoma
Afghan, WK; Iacovazzo, D; Alevizaki, M; Foulkes, W; Lugli, F; Druce, M; Dutta, P; Dang, MN; Gabrovska, P; Morrison, PJ (2016-10-14) -
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; Hernandez-Ramirez, LC; Kapur, S; Caimari, F; Evanson, J; Ferrau, F (2016-06-01) -
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, A-M; Stals, K; Weber, A (2017-09) -
Increased Population Risk of AIP-Related Acromegaly and Gigantism in Ireland
Radian, S; Diekmann, Y; Gabrovska, P; Holland, B; Bradley, L; Wallace, H; Stals, K; Bussell, A-M; McGurren, K; Cuesta, M (2017-01) -
MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
Iacovazzo, D; Flanagan, SE; Walker, E; Quezado, R; de Sousa Barros, FA; Caswell, R; Johnson, MB; Wakeling, M; Brändle, M; Guo, M (2018-01-30)The β-cell-enriched MAFA transcription factor plays a central role in regulating glucose-stimulated insulin secretion while also demonstrating oncogenic transformation potential in vitro. No disease-causing MAFA variants ... -
Metformin to reduce metabolic complications and inflammation in patients on systemic glucocorticoid therapy: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2 trial.
Pernicova, I; Kelly, S; Ajodha, S; Sahdev, A; Bestwick, JP; Gabrovska, P; Akanle, O; Ajjan, R; Kola, B; Stadler, M (2020-04)BACKGROUND: An urgent need to reduce the metabolic side-effects of glucocorticoid overexposure has been recognised, as glucocorticoid excess can lead to Cushing's syndrome, which is associated with high morbidity. We aimed ... -
A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes
Iacovazzo, D; Flanagan, SE; Walker, E; Caswell, R; Brandle, M; Johnson, M; Wakeling, M; Guo, M; Dang, MN; Gabrovska, P -
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 (2018-04)BACKGROUND: Predictive tools to identify patients at risk for gene mutations related to pituitary adenomas are very helpful in clinical practice. We therefore aimed to develop and validate a reliable risk category system ...