Common Variation in EDN1 Regulatory Regions Highlights the Role of PPARγ as a Key Regulator of Endothelin in vitro

por Lago-Docampo, Mauro, Solarat, Carlos, Méndez-Martínez, Luis, Baloira, Adolfo, Valverde, Diana
Publicado 2022

Functional assessment of the BMPR2 gene in lymphoblastoid cell lines from Graves’ disease patients

por Pousada, Guillermo, Lago‐Docampo, Mauro, Prado, Sonia, Varela‐Calviño, Rubén, Mantiñán, Beatriz, Valverde, Diana
Publicado 2017

ALMS1 Regulates TGF-β Signaling and Morphology of Primary Cilia

por Álvarez-Satta, María, Lago-Docampo, Mauro, Bea-Mascato, Brais, Solarat, Carlos, Castro-Sánchez, Sheila, Christensen, Søren T., Valverde, Diana
Publicado 2021

Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients

por Lago-Docampo, Mauro, Tenorio, Jair, Hernández-González, Ignacio, Pérez-Olivares, Carmen, Escribano-Subías, Pilar, Pousada, Guillermo, Baloira, Adolfo, Arenas, Miguel, Lapunzina, Pablo, Valverde, Diana
Publicado 2020

Novel Genetic and Molecular Pathways in Pulmonary Arterial Hypertension Associated with Connective Tissue Disease

por Hernandez-Gonzalez, Ignacio, Tenorio-Castano, Jair, Ochoa-Parra, Nuria, Gallego, Natalia, Pérez-Olivares, Carmen, Lago-Docampo, Mauro, Palomino Doza, Julian, Valverde, Diana, Lapunzina, Pablo, Escribano-Subias, Pilar
Publicado 2021

Reduced FOXF1 links unrepaired DNA damage to pulmonary arterial hypertension

por Isobe, Sarasa, Nair, Ramesh V., Kang, Helen Y., Wang, Lingli, Moonen, Jan-Renier, Shinohara, Tsutomu, Cao, Aiqin, Taylor, Shalina, Otsuki, Shoichiro, Marciano, David P., Harper, Rebecca L., Adil, Mir S., Zhang, Chongyang, Lago-Docampo, Mauro, Körbelin, Jakob, Engreitz, Jesse M., Snyder, Michael P., Rabinovitch, Marlene
Publicado 2023

Customized Massive Parallel Sequencing Panel for Diagnosis of Pulmonary Arterial Hypertension

por Castaño, Jair Antonio Tenorio, Hernández-Gonzalez, Ignacio, Gallego, Natalia, Pérez-Olivares, Carmen, Ochoa Parra, Nuria, Arias, Pedro, Granda, Elena, Acebo, Gonzalo Gómez, Lago-Docampo, Mauro, Palomino-Doza, Julian, López Meseguer, Manuel, del Cerro, María Jesús, PAH Consortium, Spanish, Valverde, Diana, Lapunzina, Pablo, Escribano-Subías, Pilar
Publicado 2020

Clinical heterogeneity of Pulmonary Arterial Hypertension associated with variants in TBX4

por Hernandez-Gonzalez, Ignacio, Tenorio, Jair, Palomino-Doza, Julian, Martinez Meñaca, Amaya, Morales Ruiz, Rafael, Lago-Docampo, Mauro, Valverde Gomez, María, Gomez Roman, Javier, Enguita Valls, Ana Belén, Perez-Olivares, Carmen, Valverde, Diana, Gil Carbonell, Joan, Garrido-Lestache Rodríguez-Monte, Elvira, del Cerro, Maria Jesus, Lapunzina, Pablo, Escribano-Subias, Pilar
Publicado 2020

First Genotype–Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease

por Prapa, Matina, Lago-Docampo, Mauro, Swietlik, Emilia M., Montani, David, Eyries, Mélanie, Humbert, Marc, Welch, Carrie L., Chung, Wendy K., Berger, Rolf M. F., Bogaard, Harm Jan, Danhaive, Olivier, Escribano-Subías, Pilar, Gall, Henning, Girerd, Barbara, Hernandez-Gonzalez, Ignacio, Holden, Simon, Hunt, David, Jansen, Samara M. A., Kerstjens-Frederikse, Wilhelmina, Kiely, David G., Lapunzina, Pablo, McDermott, John, Moledina, Shahin, Pepke-Zaba, Joanna, Polwarth, Gary J., Schotte, Gwen, Tenorio-Castaño, Jair, Thompson, A. A. Roger, Wharton, John, Wort, Stephen J., Megy, Karyn, Mapeta, Rutendo, Treacy, Carmen M., Martin, Jennifer M., Li, Wei, Swift, Andrew J., Upton, Paul D., Morrell, Nicholas W., Gräf, Stefan, Valverde, Diana
Publicado 2022