Epigenomic Approaches for the Diagnosis of Rare Diseases

por Martinez-Delgado, Beatriz, Barrero, Maria J.
Publicado 2022

Molecular signature of response and potential pathways related to resistance to the HSP90 inhibitor, 17AAG, in breast cancer

por Zajac, Magdalena, Gomez, Gonzalo, Benitez, Javier, Martínez-Delgado, Beatriz
Publicado 2010

NAFLD and AATD Are Two Diseases with Unbalanced Lipid Metabolism: Similarities and Differences

por Perez-Luz, Sara, Matamala, Nerea, Gomez-Mariano, Gema, Janciauskiene, Sabina, Martínez-Delgado, Beatriz
Publicado 2023

SpainUDP: The Spanish Undiagnosed Rare Diseases Program

por López-Martín, Estrella, Martínez-Delgado, Beatriz, Bermejo-Sánchez, Eva, Alonso, Javier, Posada, Manuel
Publicado 2018

Identification of amplified and highly expressed genes in amplicons of the T-cell line huT78 detected by cDNA microarray CGH

por Meléndez, Bárbara, Martínez-Delgado, Beatriz, Cuadros, Marta, Fernández, Victoria, Díaz-Uriarte, Ramón, Benítez, Javier
Publicado 2005

Genetic Anticipation Is Associated with Telomere Shortening in Hereditary Breast Cancer

por Martinez-Delgado, Beatriz, Yanowsky, Kira, Inglada-Perez, Lucia, Domingo, Samuel, Urioste, Miguel, Osorio, Ana, Benitez, Javier
Publicado 2011

Deregulated miRNAs in Hereditary Breast Cancer Revealed a Role for miR-30c in Regulating KRAS Oncogene

por Tanic, Miljana, Yanowsky, Kira, Rodriguez-Antona, Cristina, Andrés, Raquel, Márquez-Rodas, Iván, Osorio, Ana, Benitez, Javier, Martinez-Delgado, Beatriz
Publicado 2012

A Novel Mouse Monoclonal Antibody C42 against C-Terminal Peptide of Alpha-1-Antitrypsin

por Tumpara, Srinu, Korenbaum, Elena, Kühnel, Mark, Jonigk, Danny, Olejnicka, Beata, Davids, Michael, Welte, Tobias, Martinez-Delgado, Beatriz, Janciauskiene, Sabina
Publicado 2021

miRNA expression profiling of formalin-fixed paraffin-embedded (FFPE) hereditary breast tumors

por Tanić, Miljana, Yanowski, Kira, Andrés, Eduardo, Gómez-López, Gonzalo, Socorro, María Rodríguez-Pinilla, Pisano, David G., Martinez-Delgado, Beatriz, Benítez, Javier
Publicado 2014

Alternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiency

por Matamala, Nerea, Martínez, Maria Teresa, Lara, Beatriz, Pérez, Laura, Vázquez, Irene, Jimenez, Azucena, Barquín, Miguel, Ferrarotti, Ilaria, Blanco, Ignacio, Janciauskiene, Sabina, Martinez-Delgado, Beatriz
Publicado 2015

Identification of Novel Short C-Terminal Transcripts of Human SERPINA1 Gene

por Matamala, Nerea, Aggarwal, Nupur, Iadarola, Paolo, Fumagalli, Marco, Gomez-Mariano, Gema, Lara, Beatriz, Martinez, Maria Teresa, Cuesta, Isabel, Stolk, Jan, Janciauskiene, Sabina, Martinez-Delgado, Beatriz
Publicado 2017

MicroRNA deregulation in triple negative breast cancer reveals a role of miR-498 in regulating BRCA1 expression

por Matamala, Nerea, Vargas, Maria Teresa, González-Cámpora, Ricardo, Arias, Jose Ignacio, Menéndez, Primitiva, Andrés-León, Eduardo, Yanowsky, Kira, Llaneza-Folgueras, Ana, Miñambres, Rebeca, Martínez-Delgado, Beatriz, Benítez, Javier
Publicado 2016

Loss of Serpina1 in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways

por Meghadri, Sri Harsha, Martinez-Delgado, Beatriz, Ostermann, Lena, Gomez-Mariano, Gema, Perez-Luz, Sara, Tumpara, Srinu, Wrenger, Sabine, DeLuca, David S., Maus, Ulrich A., Welte, Tobias, Janciauskiene, Sabina
Publicado 2022

Acid Sphingomyelinase Deficiency Type B Patient-Derived Liver Organoids Reveals Altered Lysosomal Gene Expression and Lipid Homeostasis

por Gomez-Mariano, Gema, Perez-Luz, Sara, Ramos-Del Saz, Sheila, Matamala, Nerea, Hernandez-SanMiguel, Esther, Fernandez-Prieto, Marta, Gil-Martin, Sara, Justo, Iago, Marcacuzco, Alberto, Martinez-Delgado, Beatriz
Publicado 2023

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QO(Madrid)

por Lara, Beatriz, Martínez, Maria Teresa, Blanco, Ignacio, Hernández-Moro, Cristina, Velasco, Eladio A, Ferrarotti, Ilaria, Rodriguez-Frias, Francisco, Perez, Laura, Vazquez, Irene, Alonso, Javier, Posada, Manuel, Martínez-Delgado, Beatriz
Publicado 2014

The Delivery of α1-Antitrypsin Therapy Through Transepidermal Route: Worthwhile to Explore

por Tumpara, Srinu, Martinez-Delgado, Beatriz, Gomez-Mariano, Gema, Liu, Bin, DeLuca, David S., Korenbaum, Elena, Jonigk, Danny, Jugert, Frank, Wurm, Florian M., Wurm, Maria J., Welte, Tobias, Janciauskiene, Sabina
Publicado 2020

Polymerization of misfolded Z alpha-1 antitrypsin protein lowers CX3CR1 expression in human PBMCs

por Tumpara, Srinu, Ballmaier, Matthias, Wrenger, Sabine, König, Mandy, Lehmann, Matthias, Lichtinghagen, Ralf, Martinez-Delgado, Beatriz, Korenbaum, Elena, DeLuca, David, Jedicke, Nils, Welte, Tobias, Fromme, Malin, Strnad, Pavel, Stolk, Jan, Janciauskiene, Sabina
Publicado 2021

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

por Torres-Durán, María, Lopez-Campos, José Luis, Barrecheguren, Miriam, Miravitlles, Marc, Martinez-Delgado, Beatriz, Castillo, Silvia, Escribano, Amparo, Baloira, Adolfo, Navarro-Garcia, María Mercedes, Pellicer, Daniel, Bañuls, Lucía, Magallón, María, Casas, Francisco, Dasí, Francisco
Publicado 2018

Lung Adenocarcinoma Cell Sensitivity to Chemotherapies: A Spotlight on Lipid Droplets and SREBF1 Gene

por Gründing, Anna Ricarda, Schneider, Marc A., Richtmann, Sarah, Kriegsmann, Mark, Winter, Hauke, Martinez-Delgado, Beatriz, Varona, Sarai, Liu, Bin, DeLuca, David S., Held, Julia, Wrenger, Sabine, Muley, Thomas, Meister, Michael, Welte, Tobias, Janciauskiene, Sabina
Publicado 2022

Liver organoids reproduce alpha-1 antitrypsin deficiency-related liver disease

por Gómez-Mariano, Gema, Matamala, Nerea, Martínez, Selene, Justo, Iago, Marcacuzco, Alberto, Jimenez, Carlos, Monzón, Sara, Cuesta, Isabel, Garfia, Cristina, Martínez, María Teresa, Huch, Meritxell, Pérez de Castro, Ignacio, Posada, Manuel, Janciauskiene, Sabina, Martínez-Delgado, Beatriz
Publicado 2019