検索結果 - Giampaolo Trivellin
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AIP and its interacting partners 著者: Giampaolo Trivellin, Márta Korbonits
出版事項 2011Revisão -
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Genetics of gigantism and acromegaly 著者: Fady Hannah‐Shmouni, Giampaolo Trivellin, Constantine A. Stratakis
出版事項 2016Revisão -
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Genetics of Pituitary Adenomas 著者: Mônica R. Gadelha, Giampaolo Trivellin, Laura C. Hernández‐Ramírez, Márta Korbonits
出版事項 2013Revisão -
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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 著者: Rhodri M. L. Morgan, Laura C. Hernández‐Ramírez, Giampaolo Trivellin, Lihong Zhou, S. Mark Roe, Márta Korbonits, Chrisostomos Prodromou
出版事項 2012Artigo -
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Regulation of Aryl Hydrocarbon Receptor Interacting Protein (AIP) Protein Expression by MiR-34a in Sporadic Somatotropinomas 著者: 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
出版事項 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 著者: 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
出版事項 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 著者: 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
出版事項 2014Artigo -
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A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype 著者: 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
出版事項 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 著者: 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
出版事項 2019Artigo -
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Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families 著者: 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
出版事項 2010Artigo -
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Duplications disrupt chromatin architecture and rewire GPR101-enhancer communication in X-linked acrogigantism 著者: 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
出版事項 2022Artigo -
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Somatostatin Analogs Modulate AIP in Somatotroph Adenomas: The Role of the ZAC1 Pathway 著者: 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
出版事項 2012Artigo -
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GHRH excess and blockade in X-LAG syndrome 著者: 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
出版事項 2015Artigo -
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Aggressive tumor growth and clinical evolution in a patient with X-linked acro-gigantism syndrome 著者: 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
出版事項 2015Artigo -
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Characterization of GPR101 transcript structure and expression patterns 著者: 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
出版事項 2016Artigo -
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Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing’s disease 著者: 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
出版事項 2017Artigo -
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Is IGSF1 involved in human pituitary tumor formation? 著者: 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
出版事項 2014Artigo -
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Germline loss-of-function<i>PAM</i>variants are enriched in subjects with pituitary hypersecretion 著者: 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
出版事項 2023Pré-impressão
関連主題
Biology
Gene
Genetics
Medicine
Internal medicine
Endocrinology
Hormone
Mutation
Acromegaly
Growth hormone
Gigantism
Pituitary tumors
Molecular biology
Adenoma
Cancer research
Germline
Pituitary adenoma
Germline mutation
Missense mutation
Phenotype
Messenger RNA
Pathology
Alternative splicing
Biochemistry
Chemistry
Gene duplication
Minigene
Multiple endocrine neoplasia
Prolactin
Untranslated region