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390 results on '"Fillat, Cristina"'

1. ARI0003: Co-transduced CD19/BCMA dual-targeting CAR-T cells for the treatment of non-Hodgkin lymphoma

Author

Bachiller, Mireia, Barceló-Genestar, Nina, Rodriguez-Garcia, Alba, Alserawan, Leticia, Dobaño-López, Cèlia, Giménez-Alejandre, Marta, Castellsagué, Joan, Colell, Salut, Otero-Mateo, Marc, Antoñana-Vildosola, Asier, Español-Rego, Marta, Ferruz, Noelia, Pascal, Mariona, Martín-Antonio, Beatriz, Anguela, Xavier M., Fillat, Cristina, Olesti, Eulàlia, Calvo, Gonzalo, Juan, Manel, Delgado, Julio, Pérez-Galán, Patricia, Urbano-Ispizua, Álvaro, and Guedan, Sonia

Published
2025
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3. Aberrant TIMP-1 overexpression in tumor-associated fibroblasts drives tumor progression through CD63 in lung adenocarcinoma.

Author

Duch, Paula, Díaz-Valdivia, Natalia, Ikemori, Rafael, Gabasa, Marta, Radisky, Evette, Arshakyan, Marselina, Gea-Sorlí, Sabrina, Mateu-Bosch, Anna, Bragado, Paloma, Carrasco, Josep, Mori, Hidetoshi, Ramírez, Josep, Teixidó, Cristina, Reguart, Noemí, Fillat, Cristina, Radisky, Derek, and Alcaraz, Jordi

Subjects
CD63, Cancer-associated fibroblast, Fibrosis, SMAD3, TGF-β1, TIMP-1, Tumor microenvironment, Adenocarcinoma of Lung, Animals, Cancer-Associated Fibroblasts, Carcinoma, Squamous Cell, Fibroblasts, Humans, Lung Neoplasms, Mice, Tetraspanin 30, Tissue Inhibitor of Metalloproteinase-1, Transforming Growth Factor beta1, Tumor Microenvironment
Abstract

Tissue inhibitor of metalloproteinase-1 (TIMP-1) is an important regulator of extracellular matrix turnover that has been traditionally regarded as a potential tumor suppressor owing to its inhibitory effects of matrix metalloproteinases. Intriguingly, this interpretation has been challenged by the consistent observation that increased expression of TIMP-1 is associated with poor prognosis in virtually all cancer types including lung cancer, supporting a tumor-promoting function. However, how TIMP-1 is dysregulated within the tumor microenvironment and how it drives tumor progression in lung cancer is poorly understood. We analyzed the expression of TIMP-1 and its cell surface receptor CD63 in two major lung cancer subtypes: lung adenocarcinoma (ADC) and squamous cell carcinoma (SCC), and defined the tumor-promoting effects of their interaction. We found that TIMP-1 is aberrantly overexpressed in tumor-associated fibroblasts (TAFs) in ADC compared to SCC. Mechanistically, TIMP-1 overexpression was mediated by the selective hyperactivity of the pro-fibrotic TGF-β1/SMAD3 pathway in ADC-TAFs. Likewise, CD63 was upregulated in ADC compared to SCC cells. Genetic analyses revealed that TIMP-1 secreted by TGF-β1-activated ADC-TAFs is both necessary and sufficient to enhance growth and invasion of ADC cancer cells in culture, and that tumor cell expression of CD63 was required for these effects. Consistently, in vivo analyses revealed that ADC cells co-injected with fibroblasts with reduced SMAD3 or TIMP-1 expression into immunocompromised mice attenuated tumor aggressiveness compared to tumors bearing parental fibroblasts. We also found that high TIMP1 and CD63 mRNA levels combined define a stronger prognostic biomarker than TIMP1 alone. Our results identify an excessive stromal TIMP-1 within the tumor microenvironment selectively in lung ADC, and implicate it in a novel tumor-promoting TAF-carcinoma crosstalk, thereby pointing to TIMP-1/CD63 interaction as a novel therapeutic target in lung cancer.

Published
2022

6. Germline Mutations in FAF1 Are Associated With Hereditary Colorectal Cancer

Author

Bonjoch, Laia, Franch-Expósito, Sebastià, Garre, Pilar, Belhadj, Sami, Muñoz, Jenifer, Arnau-Collell, Coral, Díaz-Gay, Marcos, Gratacós-Mulleras, Anna, Raimondi, Giulia, Esteban-Jurado, Clara, Soares de Lima, Yasmin, Herrera-Pariente, Cristina, Cuatrecasas, Miriam, Ocaña, Teresa, Castells, Antoni, Fillat, Cristina, Capellá, Gabriel, Balaguer, Francesc, Caldés, Trinidad, Valle, Laura, and Castellví-Bel, Sergi

Published
2020
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8. Aronia Berry Extract Modulates MYD88/NF-kB/P-Glycoprotein Axis to Overcome Gemcitabine Resistance in Pancreatic Cancer.

Author

Li, Yuan, Xu, Caiming, Han, Haiyong, Pascual-Sabater, Silvia, Fillat, Cristina, and Goel, Ajay

Subjects
PANCREATIC duct, ANTINEOPLASTIC agents, OVERALL survival, TREATMENT effectiveness, MYELOID differentiation factor 88, CELL culture
Abstract

Pancreatic ductal adenocarcinoma (PDAC) is a highly lethal disease with poor survival rates, primarily due to the limited effectiveness of gemcitabine (Gem)-based chemotherapy, as well as the acquisition of chemotherapeutic resistance. Aronia berry extracts (ABEs), abundant in phenolic constituents, have been recently recognized for their anticancer properties as well as their encouraging potential to help overcome chemoresistance in various cancers. In the present study, we explored ABE's potential to overcome Gem resistance in PDAC and identify specific growth regulatory pathways responsible for its anticancer activity. Through a series of in vitro experiments in gemcitabine-resistant (Gem-R) cells, we elucidated the synergistic interactions between Gem and ABE treatments. Using advanced transcriptomic analysis and network pharmacology, we revealed key molecular pathways linked to chemoresistance and potential therapeutic targets of ABE in Gem-R PDAC cells. Subsequently, the findings from cell culture studies were validated in patient-derived 3D tumor organoids (PDOs). The combination treatment of ABE and Gem demonstrated significant synergism and anticancer effects on cell viability, proliferation, migration, and invasion in Gem-R cells. Transcriptomic analysis revealed a correlation between the NF-Κb signaling pathway and Gem-R (p < 0.05), exhibiting a marked upregulation of MYD88. Additionally, MYD88 exhibited a significant correlation with the overall survival rates in patients with PDAC patients in the TCGA cohort (HR = 1.58, p < 0.05). The MYD88/NF-Κb pathway contributes to chemoresistance by potentially upregulating efflux transporters like P-glycoprotein (P-gp). Our findings revealed that the combined treatment with ABE suppressed the NF-Κb pathway by targeting MYD88 and reducing P-gp expression to overcome Gem resistance. Lastly, the combination therapy proved highly effective in PDOs in reducing both their number and size (p < 0.05). Our study offers previously unrecognized insights into the ability of ABE to overcome Gem resistance in PDAC cells through its targeting of the MYD88/NF-κb/P-gp axis, hence providing a safe and cost-effective adjunctive therapeutic strategy to improve treatment outcomes in PDAC. [ABSTRACT FROM AUTHOR]

Published
2024
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19. Data from Epigenetic SMAD3 Repression in Tumor-Associated Fibroblasts Impairs Fibrosis and Response to the Antifibrotic Drug Nintedanib in Lung Squamous Cell Carcinoma

Author

Ikemori, Rafael, primary, Gabasa, Marta, primary, Duch, Paula, primary, Vizoso, Miguel, primary, Bragado, Paloma, primary, Arshakyan, Marselina, primary, Luis, Iuliana-Cristiana, primary, Marín, Albert, primary, Morán, Sebastian, primary, Castro, Manuel, primary, Fuster, Gemma, primary, Gea-Sorli, Sabrina, primary, Jauset, Toni, primary, Soucek, Laura, primary, Montuenga, Luis M., primary, Esteller, Manel, primary, Monsó, Eduard, primary, Peinado, Victor Ivo, primary, Gascon, Pere, primary, Fillat, Cristina, primary, Hilberg, Frank, primary, Reguart, Noemí, primary, and Alcaraz, Jordi, primary

Published
2023
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20. Supplementary Figures from Epigenetic SMAD3 Repression in Tumor-Associated Fibroblasts Impairs Fibrosis and Response to the Antifibrotic Drug Nintedanib in Lung Squamous Cell Carcinoma

Author

Ikemori, Rafael, primary, Gabasa, Marta, primary, Duch, Paula, primary, Vizoso, Miguel, primary, Bragado, Paloma, primary, Arshakyan, Marselina, primary, Luis, Iuliana-Cristiana, primary, Marín, Albert, primary, Morán, Sebastian, primary, Castro, Manuel, primary, Fuster, Gemma, primary, Gea-Sorli, Sabrina, primary, Jauset, Toni, primary, Soucek, Laura, primary, Montuenga, Luis M., primary, Esteller, Manel, primary, Monsó, Eduard, primary, Peinado, Victor Ivo, primary, Gascon, Pere, primary, Fillat, Cristina, primary, Hilberg, Frank, primary, Reguart, Noemí, primary, and Alcaraz, Jordi, primary

Published
2023
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22. Supplementary Tables from Epigenetic SMAD3 Repression in Tumor-Associated Fibroblasts Impairs Fibrosis and Response to the Antifibrotic Drug Nintedanib in Lung Squamous Cell Carcinoma

Author

Ikemori, Rafael, primary, Gabasa, Marta, primary, Duch, Paula, primary, Vizoso, Miguel, primary, Bragado, Paloma, primary, Arshakyan, Marselina, primary, Luis, Iuliana-Cristiana, primary, Marín, Albert, primary, Morán, Sebastian, primary, Castro, Manuel, primary, Fuster, Gemma, primary, Gea-Sorli, Sabrina, primary, Jauset, Toni, primary, Soucek, Laura, primary, Montuenga, Luis M., primary, Esteller, Manel, primary, Monsó, Eduard, primary, Peinado, Victor Ivo, primary, Gascon, Pere, primary, Fillat, Cristina, primary, Hilberg, Frank, primary, Reguart, Noemí, primary, and Alcaraz, Jordi, primary

Published
2023
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23. Supplementary Material from Epigenetic SMAD3 Repression in Tumor-Associated Fibroblasts Impairs Fibrosis and Response to the Antifibrotic Drug Nintedanib in Lung Squamous Cell Carcinoma

Author

Ikemori, Rafael, primary, Gabasa, Marta, primary, Duch, Paula, primary, Vizoso, Miguel, primary, Bragado, Paloma, primary, Arshakyan, Marselina, primary, Luis, Iuliana-Cristiana, primary, Marín, Albert, primary, Morán, Sebastian, primary, Castro, Manuel, primary, Fuster, Gemma, primary, Gea-Sorli, Sabrina, primary, Jauset, Toni, primary, Soucek, Laura, primary, Montuenga, Luis M., primary, Esteller, Manel, primary, Monsó, Eduard, primary, Peinado, Victor Ivo, primary, Gascon, Pere, primary, Fillat, Cristina, primary, Hilberg, Frank, primary, Reguart, Noemí, primary, and Alcaraz, Jordi, primary

Published
2023
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29. Aberrant TIMP-1 overexpression in tumor-associated fibroblasts drives tumor progression through CD63 in lung adenocarcinoma

Author

Duch, Paula, primary, Díaz-Valdivia, Natalia, additional, Ikemori, Rafael, additional, Gabasa, Marta, additional, Radisky, Evette S., additional, Arshakyan, Marselina, additional, Gea-Sorlí, Sabrina, additional, Mateu-Bosch, Anna, additional, Bragado, Paloma, additional, Carrasco, Josep Lluís, additional, Mori, Hidetoshi, additional, Ramírez, Josep, additional, Teixidó, Cristina, additional, Reguart, Noemí, additional, Fillat, Cristina, additional, Radisky, Derek C., additional, and Alcaraz, Jordi, additional

Published
2022
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32. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Author

Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluís, Carracedo, Angel, Millán, José M., Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José Antonio, Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodríguez de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto, Sanz, Pascual, Rubio, Vicente, and Llácer, José L.

Subjects
Biomedical Research, Epidemiology, Novel genes, Research network, New therapeutic approaches, Rare diseases, Rare Diseases, Diagnòstic, Diagnosis, Genetics, Humans, Malalties rares, Epidemiologia, Genètica, Genetics (clinical)
Abstract

13 páginas,1 figura, 3 tablas, 1 apéndice. Se extraen los autores pertenecientes a The CIBERER network que trabajan en Centros del CSIC del Appendix A, CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research., This study has been funded by Instituto de Salud Carlos III (ISCIII) and Spanish Ministry of Science and Innovation

Published
2022

36. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Author

Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto [0000-0002-1334-5273], Sanz, Pascual [0000-0002-2399-4103], Rubio, Vicente [0000-0001-8124-1196], Llácer, José L. [0000-0001-5304-1795], Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis Alberto, Montoliu, Lluís, Carracedo, Ángel, Millán, José María, Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José A., Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodriguez-de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana Belén, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto [0000-0002-1334-5273], Sanz, Pascual [0000-0002-2399-4103], Rubio, Vicente [0000-0001-8124-1196], Llácer, José L. [0000-0001-5304-1795], Luque, Juan M., Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis Alberto, Montoliu, Lluís, Carracedo, Ángel, Millán, José María, Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa María, Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José A., Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero-López, Rosa, Jiménez-Estrada, Juan Andrés, Manguan-García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona Abellón, Rosario, Rivera-Barahona, Ana, Rodriguez-de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno-Estellés, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana Belén, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., and Nieto, M. Ángela

Abstract

CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research.

Published
2022

37. CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

Author

Luque, Juan, Mendes, Ingrid, Gómez, Beatriz, Morte, Beatriz, de Heredia, Miguel, Lopez Herreras, Enrique, Corrochano, Virginia, Bueren, Juan, Gallano, Pia, Artuch, Rafael, Fillat, Cristina, Pérez-Jurado, Luis A., Montoliu, Lluís, Carracedo, Angel, Millan, Jose M., Webb, Susan M., Palau, Francesc, CIBERER Network, Lapunzina, Pablo, Albiñana, Virginia, Arjona, Emilia, Bernabéu, Carmelo, Botella, Luisa M., Pinto, Sheila, Rodríguez de Córdoba, Santiago, Ruiz, Ángela, Antiñolo, Guillermo, Borrego, Salud, Bravo-Gil, Nereida, González-del Pozo, María, Méndez-Vidal, Cristina, Arbones, Maria L., Caparrós-Martín, José Antonio, Cediel, Rafael, Contreras, Julio, Estañ, María Cristina, Guerrero, Rosa, Jiménez-Estrada, Juan Andrés, Manguán García, Cristina, Murillo-Cuesta, Silvia, Palencia-Campos, Adrián, Perona, Rosario, Rivera-Barahona, Ana, Rodríguez de la Rosa, Lourdes, Ruiz-Pérez, Victor L., Sastre, Leandro, Valencia, María, Varela-Nieto, Isabel, Cervera, Javier, Cima, Sergio de, Gougeard, Nadine, Heredia, Miguel, Llácer, José Luis, Marco-Marín, Clara, Marina, Alberto, Mollá, Belén, Moreno, Mireia, Pérez-Jiménez, Eva, Rubio, Vicente, Sanz, Pascual, Cortés-Rodríguez, Ana, Navas, Plácido, Sánchez Cuesta, Ana María, Santos-Ocaña, Carlos, Fraga, Mario F., Nieto, M. Ángela, Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Marina, Alberto [0000-0002-1334-5273], Sanz, Pascual [0000-0002-2399-4103], Rubio, Vicente [0000-0001-8124-1196], and Llácer, José L. [0000-0001-5304-1795]

Subjects
Novel genes, Genetics, Research network, New therapeutic approaches, Rare diseases
Abstract

13 páginas,1 figura, 3 tablas, 1 apéndice. Se extraen los autores pertenecientes a The CIBERER network que trabajan en Centros del CSIC del Appendix A CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research. This study has been funded by Instituto de Salud Carlos III (ISCIII) and Spanish Ministry of Science and Innovation

Published
2022

38. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options

Author

Albert, Michael H., Bittner, Tanja C., Nonoyama, Shigeaki, Notarangelo, Lucia Dora, Burns, Siobhan, Imai, Kohsuke, Espanol, Teresa, Fasth, Anders, Pellier, Isabelle, Strauss, Gabriele, Morio, Tomohiro, Gathmann, Benjamin, Noordzij, Jeroen G., Fillat, Cristina, Hoenig, Manfred, Nathrath, Michaela, Meindl, Alfons, Pagel, Philipp, Wintergerst, Uwe, Fischer, Alain, Thrasher, Adrian J., Belohradsky, Bernd H., and Ochs, Hans D.

Published
2010
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46. DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome

Author

Canzonetta, Claudia, Mulligan, Claire, Deutsch, Samuel, Ruf, Sandra, O'Doherty, Aideen, Lyle, Robert, Borel, Christelle, Lin-Marq, Nathalie, Delom, Frederic, Groet, Jürgen, Schnappauf, Felix, De Vita, Serena, Averill, Sharon, Priestley, John V., Martin, Joanne E., Shipley, Janet, Denyer, Gareth, Epstein, Charles J., Fillat, Cristina, Estivill, Xavier, Tybulewicz, Victor L.J., Fisher, Elizabeth M.C., Antonarakis, Stylianos E., and Nizetic, Dean

Published
2008
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