检索结果 - Giampaolo Trivellin
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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 由 Rhodri M. L. Morgan, Laura C. Hernández‐Ramírez, Giampaolo Trivellin, Lihong Zhou, S. Mark Roe, Márta Korbonits, Chrisostomos Prodromou
出版 2012Artigo -
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Regulation of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Protein Expression by MiR-34a in Sporadic Somatotropinomas 由 Judit Dénes, Leandro Kasuki, Giampaolo Trivellin, Leandro M. Colli, Christina Maeda Takiya, Craig E Stiles, Sayka Barry, Margaret de Castro, Mônica R. Gadelha, Márta Korbonits
出版 2015Artigo -
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Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense<i>AIP</i>Mutations 由 Laura C. Hernández‐Ramírez, F. Martucci, Rhodri M. L. Morgan, Giampaolo Trivellin, Daniel Tilley, Nancy Ramos-Guajardo, Donato Iacovazzo, Fulvio D’Acquisto, Chrisostomos Prodromou, Márta Korbonits
出版 2016Artigo -
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Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (<i>ARMC5</i>) Gene: A Clinical and Genetic Investigation 由 Fábio R. Faucz, Mihail Zilbermint, Maya Lodish, Eva Szarek, Giampaolo Trivellin, Ninet Sinaii, Annabel Berthon, Rossella Libé, Guillaume Assié, Stéphanie Espiard, Ludivine Drougat, Bruno Ragazzon, Jérôme Bertherat, Constantine A. Stratakis
出版 2014Artigo -
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A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype 由 Gianluca Occhi, Daniela Regazzo, Giampaolo Trivellin, Francesca Boaretto, Denis Ciato, Sara Bobisse, S. Ferasin, Filomena Cetani, Elena Pardi, Márta Korbonits, Natalia S. Pellegata, Viktoryia Sidarovich, Alessandro Quattrone, Giuseppe Opocher, Franco Mantero, Carla Scaroni
出版 2013Artigo -
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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 由 Andréa Gutierrez Maria, Laura C. Hernández‐Ramírez, Giampaolo Trivellin, Fanny Chasseloup, Margarita Dionysiou, Gabriela A. Vasques, Benjamin Feldman, Chon‐Hwa Tsai‐Morris, Fábio R. Faucz, Alexander A.L. Jorge, Constantine A. Stratakis
出版 2019Artigo -
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Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families 由 Susana Igreja, Harvinder S. Chahal, Peter King, Graeme B. Bolger, Umasuthan Srirangalingam, Leonardo Guasti, J. Paul Chapple, Giampaolo Trivellin, Maria Gueorguiev, Katie Guegan, Karen Stals, Bernard Khoo, Ajith Kumar, Sian Ellard, Ashley Grossman, Márta Korbonits
出版 2010Artigo -
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Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism 由 Martin Franke, Adrian Daly, Léonor Palmeira, Amit Tirosh, Antonio Stigliano, Eszter Trifan, Fábio R. Faucz, Dayana Abboud, Patrick Pétrossians, Juan J. Tena, Eleonora Vitali, Andrea Lania, José Luis Gómez-Skármeta, Albert Beckers, Constantine A. Stratakis, Giampaolo Trivellin
出版 2022Artigo -
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Somatostatin Analogs Modulate AIP in Somatotroph Adenomas: The Role of the ZAC1 Pathway 由 Harvinder Chahal, Giampaolo Trivellin, Chrysanthia A. Leontiou, Neda Alband, Robert C. Fowkes, Asil Tahir, Susana Igreja, J. Paul Chapple, Susan J. Jordan, Amelie Lupp, Stefan Schulz, Olaf Ansorge, Niki Karavitaki, Eivind Carlsen, John Wass, Ashley Grossman, Márta Korbonits
出版 2012Artigo -
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GHRH excess and blockade in X-LAG syndrome 由 Adrian Daly, Philippe A. Lysy, Céline Desfilles, Liliya Rostomyan, Amira Mohamed, Jean-Hubert Caberg, Véronique Raverot, Emilie Castermans, Étienne Marbaix, Dominique Maiter, Chloé Brunelle, Giampaolo Trivellin, Constantine A. Stratakis, Vincent Bours, Christian Raftopoulos, Véronique Beauloye, Anne Barlier, Albert Beckers
出版 2015Artigo -
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Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome 由 Luciana Ansaneli Naves, Adrian Daly, Luiz Augusto Dias, Bo Yuan, Juliano Coelho Oliveira Zakir, Gustavo Barcelos Barra, Léonor Palmeira, Chiara Villa, Giampaolo Trivellin, Armindo Jreige Júnior, Florêncio Figueiredo Cavalcante Neto, Pengfei Liu, Natalia S. Pellegata, Constantine A. Stratakis, James R. Lupski, Albert Beckers
出版 2015Artigo -
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Characterization of GPR101 transcript structure and expression patterns 由 Giampaolo Trivellin, Ivana Bjelobaba, Adrian Daly, Darwin O. Larco, Léonor Palmeira, Fábio R. Faucz, Albert Thiry, Letícia Ferro Leal, Liliya Rostomyan, Martha Quezado, Marie Helene Schernthaner-Reiter, Marija M. Janjic, Chiara Villa, T. John Wu, Stanko S. Stojilković, Albert Beckers, Benjamin Feldman, Constantine A. Stratakis
出版 2016Artigo -
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Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease 由 Laura C. Hernández‐Ramírez, Ryhem Gam, Nuria Valdés, Maya Lodish, Nathan Pankratz, Aurélio Balsalobre, Yves Gauthier, Fábio R. Faucz, Giampaolo Trivellin, Prashant Chittiboina, John Lane, Denise M. Kay, Aggeliki Dimopoulos, S. Gaillard, Mario Néou, Jérôme Bertherat, Guillaume Assié, Chiara Villa, James L. Mills, Jacques Drouin, Constantine A. Stratakis
出版 2017Artigo -
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Is IGSF1 involved in human pituitary tumor formation? 由 Fábio R. Faucz, Anélia Horvath, Monalisa Ferreira Azevedo, Isaac Lévy, Beata Bąk, Ying Wang, Paraskevi Xekouki, Eva Szarek, Evgenia Gourgari, Allison Manning, Rodrigo Bertollo de Alexandre, Emmanouil Saloustros, Giampaolo Trivellin, Maya Lodish, Paul L. Hofman, Yvonne C. Anderson, I. M. Holdaway, Edward H. Oldfield, Prashant Chittiboina, Maria Nesterova, Nienke R. Biermasz, Jan M. Wit, Daniel J. Bernard, Constantine A. Stratakis
出版 2014Artigo -
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Germline loss-of-function<i>PAM</i>variants are enriched in subjects with pituitary hypersecretion 由 Giampaolo Trivellin, Adrian Daly, Laura C. Hernández‐Ramírez, Elisa Araldi, Christina Tatsi, Ryan Dale, Gus Fridell, Arjun Mittal, Fábio R. Faucz, James Iben, Tianwei Li, Eleonora Vitali, Stanko S. Stojilković, Peter Kamenický, Chiara Villa, Bertrand Baussart, Prashant Chittiboina, Camilo Toro, William A. Gahl, Erica A. Eugster, Luciana Ansaneli Naves, Marie‐Lise Jaffrain‐Rea, Wouter W. de Herder, Sebastian JCMM Neggers, Patrick Pétrossians, Albert Beckers, Andrea Lania, Richard E. Mains, Betty Eipper, Constantine A. Stratakis
出版 2023Pré-impressão
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Biology
Gene
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Internal medicine
Endocrinology
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Growth hormone
Gigantism
Pituitary tumors
Molecular biology
Adenoma
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Pituitary adenoma
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Missense mutation
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Messenger RNA
Pathology
Alternative splicing
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