Search Results - "ASSIE, Guillaume"

Constitutive Activation of PKA Catalytic Subunit in Adrenal Cushing's Syndrome by Beuschlein, Felix, Fassnacht, Martin, Assié, Guillaume, Calebiro, Davide, Stratakis, Constantine A, Osswald, Andrea, Ronchi, Cristina L, Wieland, Thomas, Sbiera, Silviu, Faucz, Fabio R, Schaak, Katrin, Schmittfull, Anett, Schwarzmayr, Thomas, Barreau, Olivia, Vezzosi, Delphine, Rizk-Rabin, Marthe, Zabel, Ulrike, Szarek, Eva, Salpea, Paraskevi, Forlino, Antonella, Vetro, Annalisa, Zuffardi, Orsetta, Kisker, Caroline, Diener, Susanne, Meitinger, Thomas, Lohse, Martin J, Reincke, Martin, Bertherat, Jérome, Strom, Tim M, Allolio, Bruno

“…Corticotropin-independent Cushing's syndrome occurs with adrenocortical tumors or hyperplasia. The authors report that germline duplications of PRKACA lead to…”
Get full text

Pangenomic Classification of Pituitary Neuroendocrine Tumors by Neou, Mario, Villa, Chiara, Armignacco, Roberta, Jouinot, Anne, Raffin-Sanson, Marie-Laure, Septier, Amandine, Letourneur, Franck, Diry, Ségolène, Diedisheim, Marc, Izac, Brigitte, Gaspar, Cassandra, Perlemoine, Karine, Verjus, Victoria, Bernier, Michèle, Boulin, Anne, Emile, Jean-François, Bertagna, Xavier, Jaffrezic, Florence, Laloe, Denis, Baussart, Bertrand, Bertherat, Jérôme, Gaillard, Stephan, Assié, Guillaume

“…Pituitary neuroendocrine tumors (PitNETs) are common, with five main histological subtypes: lactotroph, somatotroph, and thyrotroph (POU1F1/PIT1 lineage);…”
Get full text

Integrated genomic characterization of adrenocortical carcinoma by Assié, Guillaume, Letouzé, Eric, Fassnacht, Martin, Jouinot, Anne, Luscap, Windy, Barreau, Olivia, Omeiri, Hanin, Rodriguez, Stéphanie, Perlemoine, Karine, René-Corail, Fernande, Elarouci, Nabila, Sbiera, Silviu, Kroiss, Matthias, Allolio, Bruno, Waldmann, Jens, Quinkler, Marcus, Mannelli, Massimo, Mantero, Franco, Papathomas, Thomas, De Krijger, Ronald, Tabarin, Antoine, Kerlan, Véronique, Baudin, Eric, Tissier, Frédérique, Dousset, Bertrand, Groussin, Lionel, Amar, Laurence, Clauser, Eric, Bertagna, Xavier, Ragazzon, Bruno, Beuschlein, Felix, Libé, Rossella, de Reyniès, Aurélien, Bertherat, Jérôme

“…Jérôme Bertherat, Aurélien de Reyniès and colleagues perform integrated genomic analyses of adrenocortical carcinomas. They discover recurrent alterations in…”
Get full text

ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing's Syndrome by Assié, Guillaume, Libé, Rossella, Espiard, Stéphanie, Rizk-Rabin, Marthe, Guimier, Anne, Luscap, Windy, Barreau, Olivia, Lefèvre, Lucile, Sibony, Mathilde, Guignat, Laurence, Rodriguez, Stéphanie, Perlemoine, Karine, René-Corail, Fernande, Letourneur, Franck, Trabulsi, Bilal, Poussier, Alix, Chabbert-Buffet, Nathalie, Borson-Chazot, Françoise, Groussin, Lionel, Bertagna, Xavier, Stratakis, Constantine A, Ragazzon, Bruno, Bertherat, Jérôme

“…This study showed that there were mutations in ARMC5, a putative tumor-suppressor gene, in a substantial proportion of patients with corticotropin-independent…”
Get full text

Mutational signature analysis identifies MUTYH deficiency in colorectal cancers and adrenocortical carcinomas by Pilati, Camilla, Shinde, Jayendra, Alexandrov, Ludmil B, Assié, Guillaume, André, Thierry, Hélias‐Rodzewicz, Zofia, Ducoudray, Romain, Le Corre, Delphine, Zucman‐Rossi, Jessica, Emile, Jean‐François, Bertherat, Jérôme, Letouzé, Eric, Laurent‐Puig, Pierre

“…Germline alterations in DNA repair genes are implicated in cancer predisposition and can result in characteristic mutational signatures. However, specific…”
Get full text

The Gene of the Ubiquitin-Specific Protease 8 Is Frequently Mutated in Adenomas Causing Cushing's Disease by Perez-Rivas, Luis G, Theodoropoulou, Marily, Ferraù, Francesco, Nusser, Clara, Kawaguchi, Kohei, Stratakis, Constantine A, Faucz, Fabio Rueda, Wildemberg, Luiz E, Assié, Guillaume, Beschorner, Rudi, Dimopoulou, Christina, Buchfelder, Michael, Popovic, Vera, Berr, Christina M, Tóth, Miklós, Ardisasmita, Arif Ibrahim, Honegger, Jürgen, Bertherat, Jerôme, Gadelha, Monica R, Beuschlein, Felix, Stalla, Günter, Komada, Masayuki, Korbonits, Márta, Reincke, Martin

“…Context: We have recently reported somatic mutations in the ubiquitin-specific protease USP8 gene in a small series of adenomas of patients with Cushing's…”
Get full text

Macronodular Adrenal Hyperplasia due to Mutations in an Armadillo Repeat Containing 5 (ARMC5) Gene: A Clinical and Genetic Investigation by Faucz, Fabio R, Zilbermint, Mihail, Lodish, Maya B, Szarek, Eva, Trivellin, Giampaolo, Sinaii, Ninet, Berthon, Annabel, Libé, Rossella, Assié, Guillaume, Espiard, Stéphanie, Drougat, Ludivine, Ragazzon, Bruno, Bertherat, Jerome, Stratakis, Constantine A

“…Context: Inactivating germline mutations of the probable tumor suppressor gene, armadillo repeat containing 5 (ARMC5), have recently been identified as a…”
Get full text

Temozolomide treatment can improve overall survival in aggressive pituitary tumors and pituitary carcinomas by Lasolle, Hélène, Cortet, Christine, Castinetti, Fréderic, Cloix, Lucie, Caron, Philippe, Delemer, Brigitte, Desailloud, Rachel, Jublanc, Christel, Lebrun-Frenay, Christine, Sadoul, Jean-Louis, Taillandier, Luc, Batisse-Lignier, Marie, Bonnet, Fabrice, Bourcigaux, Nathalie, Bresson, Damien, Chabre, Olivier, Chanson, Philippe, Garcia, Cyril, Haissaguerre, Magalie, Reznik, Yves, Borot, Sophie, Villa, Chiara, Vasiljevic, Alexandre, Gaillard, Stephan, Jouanneau, Emmanuel, Assié, Guillaume, Raverot, Gérald

“…Objectives Only few retrospective studies have reported an efficacy rate of temozolomide (TMZ) in pituitary tumors (PT), all around 50%. However, the long-term…”
Get full text

Gene Expression Profiling Reveals a New Classification of Adrenocortical Tumors and Identifies Molecular Predictors of Malignancy and Survival by DE REYNIES, Aurélien, ASSIE, Guillaume, RICKMAN, David S, TISSIER, Frédérique, GROUSSIN, Lionel, RENE-CORAIL, Fernande, DOUSSET, Bertrand, BERTAGNA, Xavier, CLAUSER, Eric, BERTHERAT, Jerome

“…Adrenocortical tumors, especially cancers, remain challenging both for their diagnosis and prognosis assessment. The aim of this article is to identify…”
Get full text

Genetic Landscape of Sporadic Unilateral Adrenocortical Adenomas Without PRKACA p.Leu206Arg Mutation by Ronchi, Cristina L, Di Dalmazi, Guido, Faillot, Simon, Sbiera, Silviu, Assié, Guillaume, Weigand, Isabel, Calebiro, Davide, Schwarzmayr, Thomas, Appenzeller, Silke, Rubin, Beatrice, Waldmann, Jens, Scaroni, Carla, Bartsch, Detlef K, Mantero, Franco, Mannelli, Massimo, Kastelan, Darko, Chiodini, Iacopo, Bertherat, Jerome, Reincke, Martin, Strom, Tim M, Fassnacht, Martin, Beuschlein, Felix

“…Context: Adrenocortical adenomas (ACAs) are among the most frequent human neoplasias. Genetic alterations affecting the cAMP/protein kinase A signaling pathway…”
Get full text

Corticotroph Tumor Progression after Adrenalectomy in Cushing’s Disease: A Reappraisal of Nelson’s Syndrome by Assié, Guillaume, Bahurel, Hélène, Coste, Joël, Silvera, Stéphane, Kujas, Michèle, Dugué, Marie-Annick, Karray, Foued, Dousset, Bertrand, Bertherat, Jérôme, Legmann, Paul, Bertagna, Xavier

“…Context: Adrenalectomy is a radical treatment for hypercortisolism in Cushing’s disease. However, it may lead to Nelson’s syndrome, originally defined by the…”
Get full text

Identification of a CpG Island Methylator Phenotype in Adrenocortical Carcinomas by Barreau, Olivia, Assié, Guillaume, Wilmot-Roussel, Hortense, Ragazzon, Bruno, Baudry, Camille, Perlemoine, Karine, René-Corail, Fernande, Bertagna, Xavier, Dousset, Bertrand, Hamzaoui, Nadim, Tissier, Frédérique, de Reynies, Aurélien, Bertherat, Jérôme

“…Purpose: DNA methylation is a mechanism for gene expression silencing in cancer. Limited information is available for adrenocortical tumors. Abnormal…”
Get full text

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

“…The CABLES1 cell cycle regulator participates in the adrenal–pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors…”
Get full text

ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences by Espiard, Stéphanie, Drougat, Ludivine, Libé, Rossella, Assié, Guillaume, Perlemoine, Karine, Guignat, Laurence, Barrande, Gaelle, Brucker-Davis, Françoise, Doullay, Françoise, Lopez, Stephanie, Sonnet, Emmanuel, Torremocha, Florence, Pinsard, Denis, Chabbert-Buffet, Nathalie, Raffin-Sanson, Marie-Laure, Groussin, Lionel, Borson-Chazot, Françoise, Coste, Joël, Bertagna, Xavier, Stratakis, Constantine A, Beuschlein, Felix, Ragazzon, Bruno, Bertherat, Jérôme

“…Context: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause of primary adrenal Cushing's syndrome (CS). ARMC5 germline mutations have…”
Get full text

WNT/β-catenin signalling is activated in aldosterone-producing adenomas and controls aldosterone production by Berthon, Annabel, Drelon, Coralie, Ragazzon, Bruno, Boulkroun, Sheerazed, Tissier, Frédérique, Amar, Laurence, Samson-Couterie, Benoît, Zennaro, Maria-Christina, Plouin, Pierre-François, Skah, Seham, Plateroti, Michelina, Lefèbvre, Hervé, Sahut-Barnola, Isabelle, Batisse-Lignier, Marie, Assié, Guillaume, Lefrançois-Martinez, Anne-Marie, Bertherat, Jérôme, Martinez, Antoine, Val, Pierre

“…Primary aldosteronism (PA) is the main cause of secondary hypertension, resulting from adrenal aldosterone-producing adenomas (APA) or bilateral hyperplasia…”
Get full text

Somatic USP8 mutations are frequent events in corticotroph tumor progression causing Nelson’s tumor by Pérez-Rivas, Luis G, Theodoropoulou, Marily, Puar, Troy H, Fazel, Julia, Stieg, Mareike R, Ferraù, Francesco, Assié, Guillaume, Gadelha, Monica R, Deutschbein, Timo, Fragoso, Maria C, Kusters, Benno, Saeger, Wolfgang, Honegger, Jürgen, Buchfelder, Michael, Korbonits, Márta, Bertherat, Jérôme, Stalla, Günter K, Hermus, Ad R, Beuschlein, Felix, Reincke, Martin

“…Objective Somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are frequent in corticotroph tumors causing Cushing’s disease (CD). Corticotroph…”
Get full text

Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad by Haller, Florian, Moskalev, Evgeny A, Faucz, Fabio R, Barthelmeß, Sarah, Wiemann, Stefan, Bieg, Matthias, Assie, Guillaume, Bertherat, Jerome, Schaefer, Inga-Marie, Otto, Claudia, Rattenberry, Eleanor, Maher, Eamonn R, Ströbel, Philipp, Werner, Martin, Carney, J Aidan, Hartmann, Arndt, Stratakis, Constantine A, Agaimy, Abbas

“…Carney triad (CT) is a rare condition with synchronous or metachronous occurrence of gastrointestinal stromal tumors (GISTs), paragangliomas (PGLs), and…”
Get full text

Primary Aldosteronism and ARMC5 Variants by Zilbermint, Mihail, Xekouki, Paraskevi, Faucz, Fabio R, Berthon, Annabel, Gkourogianni, Alexandra, Schernthaner-Reiter, Marie Helene, Batsis, Maria, Sinaii, Ninet, Quezado, Martha M, Merino, Maria, Hodes, Aaron, Abraham, Smita B, Libé, Rossella, Assié, Guillaume, Espiard, Stéphanie, Drougat, Ludivine, Ragazzon, Bruno, Davis, Adam, Gebreab, Samson Y, Neff, Ryan, Kebebew, Electron, Bertherat, Jérôme, Lodish, Maya B, Stratakis, Constantine A

“…Context: Primary aldosteronism is one of the leading causes of secondary hypertension, causing significant morbidity and mortality. A number of genetic defects…”
Get full text

Identification of glucocorticoid-related molecular signature by whole blood methylome analysis by Armignacco, Roberta, Jouinot, Anne, Bouys, Lucas, Septier, Amandine, Lartigue, Thomas, Neou, Mario, Gaspar, Cassandra, Perlemoine, Karine, Braun, Leah, Riester, Anna, Bonnet-Serrano, Fidéline, Blanchard, Anne, Amar, Laurence, Scaroni, Carla, Ceccato, Filippo, Rossi, Gian Paolo, Williams, Tracy Ann, Larsen, Casper K, Allassonnière, Stéphanie, Zennaro, Maria-Christina, Beuschlein, Felix, Reincke, Martin, Bertherat, Jérôme, Assié, Guillaume

“…Objective Cushing’s syndrome represents a state of excessive glucocorticoids related to glucocorticoid treatments or to endogenous hypercortisolism. Cushing’s…”
Get full text

Driver mutations in USP8 wild-type Cushing's disease by Sbiera, Silviu, Perez-Rivas, Luis Gustavo, Taranets, Lyudmyla, Weigand, Isabel, Flitsch, Jörg, Graf, Elisabeth, Monoranu, Camelia-Maria, Saeger, Wolfgang, Hagel, Christian, Honegger, Jürgen, Assie, Guillaume, Hermus, Ad R, Stalla, Günter K, Herterich, Sabine, Ronchi, Cristina L, Deutschbein, Timo, Reincke, Martin, Strom, Tim M, Popov, Nikita, Theodoropoulou, Marily, Fassnacht, Martin

“…Medical treatment in Cushing's disease (CD) is limited due to poor understanding of its pathogenesis. Pathogenic variants of ubiquitin specific peptidase 8…”
Get full text