SAT-032 In Vitro Characterization Of GPR101 Transcriptional Regulation

por Trivellin, Giampaolo, Stigliano, Antonio, Wu, TJ, Stratakis, Constantine
Publicado 2019

Characterization of the adiponectin promoter + Cre recombinase insertion in the Tg(Adipoq-cre)1Evdr mouse by targeted locus amplification and droplet digital PCR

por Wong, Adrian M., Patel, Tushar P., Altman, Elizabeth K., Tugarinov, Nicol, Trivellin, Giampaolo, Yanovski, Jack A.
Publicado 2020

Structure of the TPR Domain of AIP: Lack of Client Protein Interaction with the C-Terminal α-7 Helix of the TPR Domain of AIP Is Sufficient for Pituitary Adenoma Predisposition

por Morgan, Rhodri M. L., Hernández-Ramírez, Laura C., Trivellin, Giampaolo, Zhou, Lihong, Roe, S. Mark, Korbonits, Márta, Prodromou, Chrisostomos
Publicado 2012

Case Report: New CDKN1B Mutation in Multiple Endocrine Neoplasia Type 4 and Brief Literature Review on Clinical Management

por Lavezzi, Elisabetta, Brunetti, Alessandro, Smiroldo, Valeria, Nappo, Gennaro, Pedicini, Vittorio, Vitali, Eleonora, Trivellin, Giampaolo, Mazziotti, Gherardo, Lania, Andrea
Publicado 2022

Regulation of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Protein Expression by MiR-34a in Sporadic Somatotropinomas

por Dénes, Judit, Kasuki, Leandro, Trivellin, Giampaolo, Colli, Leandro M., Takiya, Christina M., Stiles, Craig E., Barry, Sayka, de Castro, Margaret, Gadelha, Mônica R., Korbonits, Márta
Publicado 2015

Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations

por Hernández-Ramírez, Laura C., Martucci, Federico, Morgan, Rhodri M. L., Trivellin, Giampaolo, Tilley, Daniel, Ramos-Guajardo, Nancy, Iacovazzo, Donato, D'Acquisto, Fulvio, Prodromou, Chrisostomos, Korbonits, Márta
Publicado 2016

SUN-038 Role Of The Satb 1 Gene In Growth Across Species: Findings In A Cohort Of Patients With Short Stature And In A Knockout Zebrafish Model

por Gutierrez Maria, Andrea, Hernandez-Ramirez, Laura, Trivellin, Giampaolo, Chasseloup, Fanny, Dionysiou, Margarita, Vasques, Gabriela, Feldman, Benjamin, Tsai-Morris, Chon-Hwa, Faucz, Fabio, Jorge, Alexander, Stratakis, Constantine
Publicado 2019

Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess

por Hannah-Shmouni, Fady, Trivellin, Giampaolo, Beckers, Pablo, Karaviti, Lefkothea P., Lodish, Maya, Tatsi, Christina, Adesina, Adekunle M., Adamidou, Fotini, Mintziori, Gesthimani, Josefson, Jami L., Quezado, Martha, Stratakis, Constantine A.
Publicado 2022

Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers

por Hernández-Ramírez, Laura C., Gabrovska, Plamena, Dénes, Judit, Stals, Karen, Trivellin, Giampaolo, Tilley, Daniel, Ferraù, Francesco, Evanson, Jane, Ellard, Sian, Grossman, Ashley B., Roncaroli, Federico, Gadelha, Mônica R., Korbonits, Márta
Publicado 2015

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype

por Occhi, Gianluca, Regazzo, Daniela, Trivellin, Giampaolo, Boaretto, Francesca, Ciato, Denis, Bobisse, Sara, Ferasin, Sergio, Cetani, Filomena, Pardi, Elena, Korbonits, Márta, Pellegata, Natalia S., Sidarovich, Viktoryia, Quattrone, Alessandro, Opocher, Giuseppe, Mantero, Franco, Scaroni, Carla
Publicado 2013

Characterization of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Mutations in Familial Isolated Pituitary Adenoma Families

por Igreja, Susana, Chahal, Harvinder S, King, Peter, Bolger, Graeme B, Srirangalingam, Umasuthan, Guasti, Leonardo, Chapple, J Paul, Trivellin, Giampaolo, Gueorguiev, Maria, Guegan, Katie, Stals, Karen, Khoo, Bernard, Kumar, Ajith V, Ellard, Sian, Grossman, Ashley B, Korbonits, Márta
Publicado 2010

Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease

por Hernández-Ramírez, Laura C, Gam, Ryhem, Valdés, Nuria, Lodish, Maya B, Pankratz, Nathan, Balsalobre, Aurelio, Gauthier, Yves, Faucz, Fabio R, Trivellin, Giampaolo, Chittiboina, Prashant, Lane, John, Kay, Denise M, Dimopoulos, Aggeliki, Gaillard, Stephan, Neou, Mario, Bertherat, Jérôme, Assié, Guillaume, Villa, Chiara, Mills, James L, Drouin, Jacques, Stratakis, Constantine A
Publicado 2017

Germline loss-of-function PAM variants are enriched in subjects with pituitary hypersecretion

por Trivellin, Giampaolo, Daly, Adrian F., Hernández-Ramírez, Laura C., Araldi, Elisa, Tatsi, Christina, Dale, Ryan K., Fridell, Gus, Mittal, Arjun, Faucz, Fabio R., Iben, James R., Li, Tianwei, Vitali, Eleonora, Stojilkovic, Stanko S., Kamenicky, Peter, Villa, Chiara, Baussart, Bertrand, Chittiboina, Prashant, Toro, Camilo, Gahl, William A., Eugster, Erica A., Naves, Luciana A., Jaffrain-Rea, Marie-Lise, de Herder, Wouter W., Neggers, Sebastian JCMM, Petrossians, Patrick, Beckers, Albert, Lania, Andrea G., Mains, Richard E., Eipper, Betty A., Stratakis, Constantine A.
Publicado 2023

Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

por Iacovazzo, Donato, Caswell, Richard, Bunce, Benjamin, Jose, Sian, Yuan, Bo, Hernández-Ramírez, Laura C., Kapur, Sonal, Caimari, Francisca, Evanson, Jane, Ferraù, Francesco, Dang, Mary N., Gabrovska, Plamena, Larkin, Sarah J., Ansorge, Olaf, Rodd, Celia, Vance, Mary L., Ramírez-Renteria, Claudia, Mercado, Moisés, Goldstone, Anthony P., Buchfelder, Michael, Burren, Christine P., Gurlek, Alper, Dutta, Pinaki, Choong, Catherine S., Cheetham, Timothy, Trivellin, Giampaolo, Stratakis, Constantine A., Lopes, Maria-Beatriz, Grossman, Ashley B., Trouillas, Jacqueline, Lupski, James R., Ellard, Sian, Sampson, Julian R., Roncaroli, Federico, Korbonits, Márta
Publicado 2016

Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland

por Radian, Serban, Diekmann, Yoan, Gabrovska, Plamena, Holland, Brendan, Bradley, Lisa, Wallace, Helen, Stals, Karen, Bussell, Anna‐Marie, McGurren, Karen, Cuesta, Martin, Ryan, Anthony W., Herincs, Maria, Hernández‐Ramírez, Laura C., Holland, Aidan, Samuels, Jade, Aflorei, Elena Daniela, Barry, Sayka, Dénes, Judit, Pernicova, Ida, Stiles, Craig E., Trivellin, Giampaolo, McCloskey, Ronan, Ajzensztejn, Michal, Abid, Noina, Akker, Scott A., Mercado, Moises, Cohen, Mark, Thakker, Rajesh V., Baldeweg, Stephanie, Barkan, Ariel, Musat, Madalina, Levy, Miles, Orme, Stephen M., Unterländer, Martina, Burger, Joachim, Kumar, Ajith V., Ellard, Sian, McPartlin, Joseph, McManus, Ross, Linden, Gerard J., Atkinson, Brew, Balding, David J., Agha, Amar, Thompson, Chris J., Hunter, Steven J., Thomas, Mark G., Morrison, Patrick J., Korbonits, Márta
Publicado 2016