Multi-chaperone function modulation and association with cytoskeletal proteins are key features of the function of AIP in the pituitary gland

por Hernández-Ramírez, Laura C., Morgan, Rhodri M.L., Barry, Sayka, D’Acquisto, Fulvio, Prodromou, Chrisostomos, Korbonits, Márta
Publicado 2018

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

OR06-01 The Role of Germline Defects in Cushing’s Disease

por Hernández-Ramírez, Laura C, Pankratz, Nathan, Lane, John, Faucz, Fabio R, Chittiboina, Prashant, Denise, Kay M, Mills, James L, Stratakis, Constantine A
Publicado 2020

RF01 | PMON167 Isolated Cushing's Disease Associated With Rare Germline SDHx Variants

por Chittiboina, Prashant, Kay, Denise M, Mills, James L, Stratakis, Constantine A, Hernãndez-Ramírez, Laura C, Pankratz, Nathan, Lane, John, Faucz, Fabio R
Publicado 2022

Potential Role for the RASD1 Glucocorticoid-Responsive Gene in Corticotroph Tumorigenesis

por Hernández-Ramírez, Laura C, Pankratz, Nathan, Lane, John, Hu, Mingming, Faucz, Fabio R, Chittiboina, Prashant, Denise, Kay M, Mills, James L, Stratakis, Constantine A
Publicado 2021

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

Significant Benefits of AIP Testing and Clinical Screening in Familial Isolated and Young-onset Pituitary Tumors

por Marques, Pedro, Caimari, Francisca, Hernández-Ramírez, Laura C, Collier, David, Iacovazzo, Donato, Ronaldson, Amy, Magid, Kesson, Lim, Chung Thong, Stals, Karen, Ellard, Sian, Grossman, Ashley B, Korbonits, Márta
Publicado 2020

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

Corticotropinoma as a Component of Carney Complex

por Hernández-Ramírez, Laura C., Tatsi, Christina, Lodish, Maya B., Faucz, Fabio R., Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise M., Valdés, Nuria, Dimopoulos, Aggeliki, Mills, James L., Stratakis, Constantine A.
Publicado 2017

OR2802 A Novel CABLES1 Missense Variant Associated With Cushing's Disease Disrupts Protein Structure And Stability

por Franco-Álvarez, Alexa L, Morán, Mariana Torres, Rebollar-Vega, Rosa G, Pankratz, Nathan, Lane, John, Faucz, Fabio R, Chittiboina, Prashant, Kay, Denise M, Mills, James L, Stratakis, Constantine A, Hernández-Ramírez, Laura C
Publicado 2023

Somatic USP8 Gene Mutations Are a Common Cause of Pediatric Cushing Disease

por Faucz, Fabio R., Tirosh, Amit, Tatsi, Christina, Berthon, Annabel, Hernández-Ramírez, Laura C., Settas, Nikolaos, Angelousi, Anna, Correa, Ricardo, Papadakis, Georgios Z., Chittiboina, Prashant, Quezado, Martha, Pankratz, Nathan, Lane, John, Dimopoulos, Aggeliki, Mills, James L., Lodish, Maya, Stratakis, Constantine A.
Publicado 2017

SAT603 A Heterogeneous Genetic Background Underlies Familial And Young-onset Pituitary Tumors

por Zuarth-Vazquez, Julia M, Rebollar-Vega, Rosa G, Ramírez-Rentería, Claudia, Hernández-Núñez, Wellbert E, Torres-Morán, Mariana, Franco-Álvarez, Alexa L, Eseiza-Acevedo, Jocelyn, Aguilar-Soto, Mercedes, Cuevas-Ramos, Daniel, Sosa-Eroza, Ernesto, Mercado, Moises, Gamboa-Dominguez, Armando, Hernández-Ramírez, Laura C
Publicado 2023

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

Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

por Martínez de LaPiscina, Idoia, Hernández-Ramírez, Laura C., Portillo, Nancy, Gómez-Gila, Ana L., Urrutia, Inés, Martínez-Salazar, Rosa, García-Castaño, Alejandro, Aguayo, Aníbal, Rica, Itxaso, Gaztambide, Sonia, Faucz, Fabio R., Keil, Margaret F., Lodish, Maya B., Quezado, Martha, Pankratz, Nathan, Chittiboina, Prashant, Lane, John, Kay, Denise M., Mills, James L., Castaño, Luis, Stratakis, Constantine A.
Publicado 2020

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