Epigenomic Approaches for the Diagnosis of Rare Diseases

by Beatriz Martinez-Delgado, Maria J. Barrero
Published 2022-07-01

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

by Sara Perez-Luz, Nerea Matamala, Gema Gomez-Mariano, Sabina Janciauskiene, Beatriz Martínez-Delgado
Published 2023-07-01

Genetic anticipation is associated with telomere shortening in hereditary breast cancer.

by Beatriz Martinez-Delgado, Kira Yanowsky, Lucia Inglada-Perez, Lucia Inglada-Perez, Samuel Domingo, Miguel Urioste, Ana Osorio, Javier Benitez
Published 2011-07-01

Deregulated miRNAs in hereditary breast cancer revealed a role for miR-30c in regulating KRAS oncogene.

by Miljana Tanic, Kira Yanowsky, Cristina Rodriguez-Antona, Raquel Andrés, Iván Márquez-Rodas, Ana Osorio, Javier Benitez, Beatriz Martinez-Delgado
Published 2012-01-01

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

by Srinu Tumpara, Elena Korenbaum, Mark Kühnel, Danny Jonigk, Beata Olejnicka, Michael Davids, Tobias Welte, Beatriz Martinez-Delgado, Sabina Janciauskiene
Published 2021-02-01

Why do some adults with PiMZ α1-antitrypsin develop bronchiectasis?

by Nupur Aggarwal, Beatriz Martinez Delgado, Sandeep Salipalli, Nerea Matamala, Jessica Rademacher, Nicolaus Schwerk, Tobias Welte, Sabina Janciauskiene, Felix C. Ringshausen
Published 2016-06-01

Plasma levels of α1-antitrypsin-derived C-terminal peptides in PiMM and PiZZ COPD patients

by Friedemann R. Börner, Urszula Lechowicz, Sabine Wrenger, Beatriz Martinez-Delgado, Beata Olejnicka, Tobias Welte, Joanna Chorostowska-Wynimko, Michael Kiehntopf, Sabina Janciauskiene
Published 2023-12-01

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

by Miljana Tanić, Kira Yanowski, Eduardo Andrés, Gonzalo Gómez-López, María Rodríguez-Pinilla Socorro, David G. Pisano, Beatriz Martinez-Delgado, Javier Benítez
Published 2015-03-01

Brain organoid as a model to study the role of mitochondria in neurodevelopmental disorders: achievements and weaknesses

by Raquel Coronel, Raquel Coronel, Enrique García-Moreno, Emilio Siendones, Maria J. Barrero, Beatriz Martínez-Delgado, Carlos Santos-Ocaña, Isabel Liste, M. V. Cascajo-Almenara
Published 2024-06-01

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

by Nerea Matamala, Nupur Aggarwal, Paolo Iadarola, Marco Fumagalli, Gema Gomez-Mariano, Beatriz Lara, Maria Teresa Martinez, Isabel Cuesta, Jan Stolk, Sabina Janciauskiene, Beatriz Martinez-Delgado
Published 2017-01-01

Distinct metabolic responses to heme in inflammatory human and mouse macrophages – Role of nitric oxide

by Pooja Pradhan, Vijith Vijayan, Bin Liu, Beatriz Martinez-Delgado, Nerea Matamala, Christoph Nikolin, Robert Greite, David S. DeLuca, Sabina Janciauskiene, Roberto Motterlini, Roberta Foresti, Stephan Immenschuh
Published 2024-07-01

Loss of <i>Serpina1</i> in Mice Leads to Altered Gene Expression in Inflammatory and Metabolic Pathways

by Sri Harsha Meghadri, Beatriz Martinez-Delgado, Lena Ostermann, Gema Gomez-Mariano, Sara Perez-Luz, Srinu Tumpara, Sabine Wrenger, David S. DeLuca, Ulrich A. Maus, Tobias Welte, Sabina Janciauskiene
Published 2022-09-01

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

by Gema Gomez-Mariano, Sara Perez-Luz, Sheila Ramos-Del Saz, Nerea Matamala, Esther Hernandez-SanMiguel, Marta Fernandez-Prieto, Sara Gil-Martin, Iago Justo, Alberto Marcacuzco, Beatriz Martinez-Delgado
Published 2023-08-01

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

by Srinu Tumpara, Matthias Ballmaier, Sabine Wrenger, Mandy König, Matthias Lehmann, Ralf Lichtinghagen, Beatriz Martinez-Delgado, Elena Korenbaum, David DeLuca, Nils Jedicke, Tobias Welte, Malin Fromme, Pavel Strnad, Jan Stolk, Sabina Janciauskiene
Published 2021-05-01

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

by Srinu Tumpara, Beatriz Martinez-Delgado, Gema Gomez-Mariano, Bin Liu, David S. DeLuca, Elena Korenbaum, Danny Jonigk, Frank Jugert, Florian M. Wurm, Florian M. Wurm, Maria J. Wurm, Tobias Welte, Sabina Janciauskiene
Published 2020-07-01

Alpha-1 antitrypsin deficiency: outstanding questions and future directions

by María Torres-Durán, José Luis Lopez-Campos, Miriam Barrecheguren, Marc Miravitlles, Beatriz Martinez-Delgado, Silvia Castillo, Amparo Escribano, Adolfo Baloira, María Mercedes Navarro-Garcia, Daniel Pellicer, Lucía Bañuls, María Magallón, Francisco Casas, Francisco Dasí
Published 2018-07-01

Lung Adenocarcinoma Cell Sensitivity to Chemotherapies: A Spotlight on Lipid Droplets and <i>SREBF1</i> Gene

by Anna Ricarda Gründing, Marc A. Schneider, Sarah Richtmann, Mark Kriegsmann, Hauke Winter, Beatriz Martinez-Delgado, Sarai Varona, Bin Liu, David S. DeLuca, Julia Held, Sabine Wrenger, Thomas Muley, Michael Meister, Tobias Welte, Sabina Janciauskiene
Published 2022-09-01

Quantitative Lipid Profiling Reveals Major Differences between Liver Organoids with Normal Pi*M and Deficient Pi*Z Variants of Alpha-1-antitrypsin

by Sara Pérez-Luz, Jaanam Lalchandani, Nerea Matamala, Maria Jose Barrero, Sara Gil-Martín, Sheila Ramos-Del Saz, Sarai Varona, Sara Monzón, Isabel Cuesta, Iago Justo, Alberto Marcacuzco, Loreto Hierro, Cristina Garfia, Gema Gomez-Mariano, Sabina Janciauskiene, Beatriz Martínez-Delgado
Published 2023-08-01

Clinical Significance of <i>SERPINA1</i> Gene and Its Encoded Alpha1-antitrypsin Protein in NSCLC

by Evrim Ercetin, Sarah Richtmann, Beatriz Martinez Delgado, Gema Gomez-Mariano, Sabine Wrenger, Elena Korenbaum, Bin Liu, David DeLuca, Mark P. Kühnel, Danny Jonigk, Kadriya Yuskaeva, Arne Warth, Thomas Muley, Hauke Winter, Michael Meister, Tobias Welte, Sabina Janciauskiene, Marc A. Schneider
Published 2019-09-01

Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

by Roser Urreizti, Estrella Lopez-Martin, Antonio Martinez-Monseny, Montse Pujadas, Laura Castilla-Vallmanya, Luis Alberto Pérez-Jurado, Mercedes Serrano, Daniel Natera-de Benito, Beatriz Martínez-Delgado, Manuel Posada-de-la-Paz, Javier Alonso, Purificación Marin-Reina, Mar O’Callaghan, Daniel Grinberg, Eva Bermejo-Sánchez, Susanna Balcells
Published 2020-02-01