Pheochromocytomas and Paragangliomas: Bypassing Cellular Respiration

por Cascón, Alberto, Remacha, Laura, Calsina, Bruna, Robledo, Mercedes
Publicado 2019

Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation

por Espinosa, Marta, Roldán-Romero, Juan Maria, Duran, Ignacio, de Álava, Enrique, Apellaniz-Ruiz, María, Cascón, Alberto, Garrigos, Carmen, Robledo, Mercedes, Rodriguez-Antona, Cristina
Publicado 2018

Evaluation of a functional epigenetic approach to identify promoter region methylation in phaeochromocytoma and neuroblastoma

por Margetts, Caroline D E, Morris, Mark, Astuti, Dewi, Gentle, Dean C, Cascon, Alberto, McRonald, Fiona E, Catchpoole, Daniel, Robledo, Mercedes, Neumann, Hartmut P H, Latif, Farida, Maher, Eamonn R
Publicado 2008

Defective function of α-ketoglutarate dehydrogenase exacerbates mitochondrial ATP deficits during complex I deficiency

por Piroli, Gerardo G., Manuel, Allison M., McCain, Richard S., Smith, Holland H., Ozohanics, Oliver, Mellid, Sara, Cox, J. Hunter, Cotham, William E., Walla, Michael D., Cascón, Alberto, Ambrus, Attila, Frizzell, Norma
Publicado 2023

A Novel Approach for the Identification of Pharmacogenetic Variants in MT-RNR1 through Next-Generation Sequencing Off-Target Data

por Lanillos, Javier, Santos, María, Carcajona, Marta, Roldan-Romero, Juan María, Martinez, Angel M., Calsina, Bruna, Monteagudo, María, Leandro-García, Luis Javier, Montero-Conde, Cristina, Cascón, Alberto, Maietta, Paolo, Alvarez, Sara, Robledo, Mercedes, Rodriguez-Antona, Cristina
Publicado 2020

Novel DNMT3A Germline Variant in a Patient with Multiple Paragangliomas and Papillary Thyroid Carcinoma

por Mellid, Sara, Coloma, Javier, Calsina, Bruna, Monteagudo, María, Roldán-Romero, Juan M., Santos, María, Leandro-García, Luis J., Lanillos, Javier, Martínez-Montes, Ángel M., Rodríguez-Antona, Cristina, Montero-Conde, Cristina, Martínez-López, Joaquín, Ayala, Rosa, Matias-Guiu, Xavier, Robledo, Mercedes, Cascón, Alberto
Publicado 2020

Metabolome-guided genomics to identify mutations in isocitrate dehydrogenase, fumarate hydratase and succinate dehydrogenase genes in pheochromocytoma and paraganglioma

por Richter, Susan, Gieldon, Laura, Pang, Ying, Peitzsch, Mirko, Huynh, Thanh, Leton, Rocio, Viana, Bruna, Ercolino, Tonino, Mangelis, Anastasios, Rapizzi, Elena, Menschikowski, Mario, Aust, Daniela, Kroiss, Matthias, Beuschlein, Felix, Gudziol, Volker, Timmers, Henri JLM, Lenders, Jacques, Mannelli, Massimo, Cascon, Alberto, Pacak, Karel, Robledo, Mercedes, Eisenhofer, Graeme, Klink, Barbara
Publicado 2018

International initiative for a curated SDHB variant database improving the diagnosis of hereditary paraganglioma and pheochromocytoma

por Ben Aim, Laurene, Maher, Eamonn R, Cascon, Alberto, Barlier, Anne, Giraud, Sophie, Ercolino, Tonino, Pigny, Pascal, Clifton-Bligh, Roderick J, Mirebeau-Prunier, Delphine, Mohamed, Amira, Favier, Judith, Gimenez-Roqueplo, Anne-Paule, Schiavi, Francesca, Toledo, Rodrigo A, Dahia, Patricia L, Robledo, Mercedes, Bayley, Jean Pierre, Burnichon, Nelly
Publicado 2022

Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

por Mellid, Sara, Gil, Eduardo, Letón, Rocío, Caleiras, Eduardo, Honrado, Emiliano, Richter, Susan, Palacios, Nuria, Lahera, Marcos, Galofré, Juan C., López-Fernández, Adriá, Calatayud, Maria, Herrera-Martínez, Aura D., Galvez, María A., Matias-Guiu, Xavier, Balbín, Milagros, Korpershoek, Esther, Lim, Eugénie S., Maletta, Francesca, Lider, Sofia, Fliedner, Stephanie M. J., Bechmann, Nicole, Eisenhofer, Graeme, Canu, Letizia, Rapizzi, Elena, Bancos, Irina, Robledo, Mercedes, Cascón, Alberto
Publicado 2023

DLST mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation and metabolic remodeling

por Mellid, Sara, García, Fernando, Leandro‐García, Luis Javier, Díaz‐Talavera, Alberto, Martínez‐Montes, Ángel Mario, Gil, Eduardo, Calsina, Bruna, Monteagudo, María, Letón, Rocío, Roldán‐Romero, Juan María, Santos, María, Lanillos, Javier, Valdivia, Carlos, Martínez‐Puente, Natalia, de Nicolás‐Hernández, Javier, Jiménez, Scherezade, Pérez‐Martínez, Manuel, Honrado, Emiliano, Coloma, Javier, Cerezo, Ana, Santiveri, Clara María, Esteller, Manel, Campos‐Olivas, Ramón, Caleiras, Eduardo, Montero‐Conde, Cristina, Rodríguez‐Antona, Cristina, Muñoz, Javier, Robledo, Mercedes, Cascón, Alberto
Publicado 2023

Comprehensive molecular analysis of immortalization hallmarks in thyroid cancer reveals new prognostic markers

por Montero‐Conde, Cristina, Leandro‐García, Luis Javier, Martínez‐Montes, Ángel M., Martínez, Paula, Moya, Francisco J., Letón, Rocío, Gil, Eduardo, Martínez‐Puente, Natalia, Guadalix, Sonsoles, Currás‐Freixes, Maria, García‐Tobar, Laura, Zafon, Carles, Jordà, Mireia, Riesco‐Eizaguirre, Garcilaso, González‐García, Patricia, Monteagudo, María, Torres‐Pérez, Rafael, Mancikova, Veronika, Ruiz‐Llorente, Sergio, Pérez‐Martínez, Manuel, Pita, Guillermo, Galofré, Juan Carlos, Gonzalez‐Neira, Anna, Cascón, Alberto, Rodríguez‐Antona, Cristina, Megías, Diego, Blasco, María A., Caleiras, Eduardo, Rodríguez‐Perales, Sandra, Robledo, Mercedes
Publicado 2022

Analysis of Telomere Maintenance Related Genes Reveals NOP10 as a New Metastatic-Risk Marker in Pheochromocytoma/Paraganglioma

por Monteagudo, María, Martínez, Paula, Leandro-García, Luis J., Martínez-Montes, Ángel M., Calsina, Bruna, Pulgarín-Alfaro, Marta, Díaz-Talavera, Alberto, Mellid, Sara, Letón, Rocío, Gil, Eduardo, Pérez-Martínez, Manuel, Megías, Diego, Torres-Ruiz, Raúl, Rodriguez-Perales, Sandra, González, Patricia, Caleiras, Eduardo, Jiménez-Villa, Scherezade, Roncador, Giovanna, Álvarez-Escolá, Cristina, Regojo, Rita M., Calatayud, María, Guadalix, Sonsoles, Currás-Freixes, Maria, Rapizzi, Elena, Canu, Letizia, Nölting, Svenja, Remde, Hanna, Fassnacht, Martin, Bechmann, Nicole, Eisenhofer, Graeme, Mannelli, Massimo, Beuschlein, Felix, Quinkler, Marcus, Rodríguez-Antona, Cristina, Cascón, Alberto, Blasco, María A., Montero-Conde, Cristina, Robledo, Mercedes
Publicado 2021

Integrative multi-omics analysis identifies a prognostic miRNA signature and a targetable miR-21-3p/TSC2/mTOR axis in metastatic pheochromocytoma/paraganglioma

por Calsina, Bruna, Castro-Vega, Luis Jaime, Torres-Pérez, Rafael, Inglada-Pérez, Lucía, Currás-Freixes, Maria, Roldán-Romero, Juan María, Mancikova, Veronika, Letón, Rocío, Remacha, Laura, Santos, María, Burnichon, Nelly, Lussey-Lepoutre, Charlotte, Rapizzi, Elena, Graña, Osvaldo, Álvarez-Escolá, Cristina, de Cubas, Aguirre A, Lanillos, Javier, Cordero-Barreal, Alfonso, Martínez-Montes, Ángel M, Bellucci, Alexandre, Amar, Laurence, Fernandes-Rosa, Fabio Luiz, Calatayud, María, Aller, Javier, Lamas, Cristina, Sastre-Marcos, Júlia, Canu, Letizia, Korpershoek, Esther, Timmers, Henri J, Lenders, Jacques WM, Beuschlein, Felix, Fassnacht-Capeller, Martin, Eisenhofer, Graeme, Mannelli, Massimo, Al-Shahrour, Fátima, Favier, Judith, Rodríguez-Antona, Cristina, Cascón, Alberto, Montero-Conde, Cristina, Gimenez-Roqueplo, Anne-Paule, Robledo, Mercedes
Publicado 2019

Genomic and immune landscape Of metastatic pheochromocytoma and paraganglioma

por Calsina, Bruna, Piñeiro-Yáñez, Elena, Martínez-Montes, Ángel M., Caleiras, Eduardo, Fernández-Sanromán, Ángel, Monteagudo, María, Torres-Pérez, Rafael, Fustero-Torre, Coral, Pulgarín-Alfaro, Marta, Gil, Eduardo, Letón, Rocío, Jiménez, Scherezade, García-Martín, Santiago, Martin, Maria Carmen, Roldán-Romero, Juan María, Lanillos, Javier, Mellid, Sara, Santos, María, Díaz-Talavera, Alberto, Rubio, Ángeles, González, Patricia, Hernando, Barbara, Bechmann, Nicole, Dona, Margo, Calatayud, María, Guadalix, Sonsoles, Álvarez-Escolá, Cristina, Regojo, Rita M., Aller, Javier, Del Olmo-Garcia, Maria Isabel, López-Fernández, Adrià, Fliedner, Stephanie M. J., Rapizzi, Elena, Fassnacht, Martin, Beuschlein, Felix, Quinkler, Marcus, Toledo, Rodrigo A., Mannelli, Massimo, Timmers, Henri J., Eisenhofer, Graeme, Rodríguez-Perales, Sandra, Domínguez, Orlando, Macintyre, Geoffrey, Currás-Freixes, Maria, Rodríguez-Antona, Cristina, Cascón, Alberto, Leandro-García, Luis J., Montero-Conde, Cristina, Roncador, Giovanna, García-García, Juan Fernando, Pacak, Karel, Al-Shahrour, Fátima, Robledo, Mercedes
Publicado 2023