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11 results on '"Fuster, J.L."'

1. Integrated genomic analysis of chromosomal alterations and mutations in B-cell acute lymphoblastic leukemia reveals distinct genetic profiles at relapse

Author

Forero-Castro, M., Montaño, A., Robledo, C., De Coca, A.G., Fuster, J.L., De Las Heras, N., Queizán, J.A., Hernández-Sánchez, M., Corchete-Sánchez, L.A., Martín-Izquierdo, M., Ribera, Jordi, Ribera, Jose-Maria, Benito, R., Hernández-Rivas, J.M., and Universitat Autònoma de Barcelona

Subjects
Array comparative genomic hybridization (aCGH), Next-generation sequencing (NGS), Multiplex ligation-dependent probe amplification (MLPA), TP53, Acute lymphoblastic leukemia (ALL), Relapse, IKZF1
Published
2021

3. L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia—Report of New Cases

Author

Cadenas, Beatriz, Fita-Torró, J., Bermúdez-Cortés, M., Hernandez-Rodriguez, Inés, Fuster, J.L., Llinares, M.E., Galera, A.M., Romero, J.L., Pérez-Montero, S., Tornador, C., Sánchez-Fernández, Mayka, and Universitat Autònoma de Barcelona

Subjects
Metabolismo del hierro, Enfermedad neurodegenerativa, Neurodegeneration with brain iron accumulation, Síndrome de cataratas, lcsh:Medicine, lcsh:RS1-441, Pharmaceutical Science, Neuroferritinopathy, Biology, Neurodegenerative disease, Genetic analysis, Article, Cataract syndrome, lcsh:Pharmacy and materia medica, Hiperferritinèmia hereditària, neurodegenerative disease, Drug Discovery, Gene expression, medicine, Hereditary hyperferritinemia, iron metabolism, hereditary hyperferritinemia, Gene, cataracts syndrome, Metabolisme del ferro, Hereditary hypoferritinemia, Genetics, Ferritin, hereditary hypoferritinemia, Ferritina, lcsh:R, ferritin, Iron metabolism, medicine.disease, Síndrome de cataractes, Phenotype, Malaltia neurodegenerativa, Hiperferritinemia hereditaria, Hereditary Diseases, biology.protein, Molecular Medicine, Cataracts syndrome
Abstract

Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin subunit gene (FTL gene) that cause the following five diseases: (1) hereditary hyperferritinemia with cataract syndrome (HHCS), (2) neuroferritinopathy, a subtype of neurodegeneration with brain iron accumulation (NBIA), (3) benign hyperferritinemia, (4) L-ferritin deficiency with autosomal dominant inheritance, and (5) L-ferritin deficiency with autosomal recessive inheritance. Defects in the FTL gene lead to abnormally high levels of serum ferritin (hyperferritinemia) in HHCS and benign hyperferritinemia, while low levels (hypoferritinemia) are present in neuroferritinopathy and in autosomal dominant and recessive L-ferritin deficiency. Iron disturbances as well as neuromuscular and cognitive deficits are present in some, but not all, of these diseases. Here, we identified two novel FTL variants that cause dominant L-ferritin deficiency and HHCS (c.375+2T > A and 36_42delCAACAGT, respectively), and one previously reported variant (Met1Val) that causes dominant L-ferritin deficiency. Globally, genetic changes in the FTL gene are responsible for multiple phenotypes and an accurate diagnosis is useful for appropriate treatment. To help in this goal, we included a diagnostic algorithm for the detection of diseases caused by defects in FTL gene. info:eu-repo/semantics/publishedVersion

Published
2019

4. Development Refractoriness of MLL-Rearranged Human B Cell Acute Leukemias to Reprogramming into Pluripotency

Author

Muñoz-López, Á. (Álvaro), Romero-Moya, D. (Damià), Prieto, C. (Cristina), Ramos-Mejía, V. (Verónica), Agraz-Doblas, A. (Antonio), Varela, I. (Ignacio), Buschbeck, M. (Marcus), Palau, A. (Anna), Carvajal-Vergara, X. (Xonia), Giorgetti, A. (Alessandra), Ford, A. (Anthony), Lako, M. (Majlinda), Granada, I. (Isabel), Ruiz-Xivillé, N. (Neus), Rodríguez-Perales, S. (Sandra), Torres-Ruíz, R. (Raul), Stam, R.W. (Ronald), Fuster, J.L. (Jose Luis), Fraga, M.F. (Mario F.), Nakanishi, M. (Mahito), Cazzaniga, G. (Gianni), Bardini, M. (Michela), Cobo, I. (Isabel), Bayon, G.F. (Gustavo F.), Fernández, A.F. (Agustin F.), Bueno, C. (Clara), Menéndez, P. (Pablo), Muñoz-López, Á. (Álvaro), Romero-Moya, D. (Damià), Prieto, C. (Cristina), Ramos-Mejía, V. (Verónica), Agraz-Doblas, A. (Antonio), Varela, I. (Ignacio), Buschbeck, M. (Marcus), Palau, A. (Anna), Carvajal-Vergara, X. (Xonia), Giorgetti, A. (Alessandra), Ford, A. (Anthony), Lako, M. (Majlinda), Granada, I. (Isabel), Ruiz-Xivillé, N. (Neus), Rodríguez-Perales, S. (Sandra), Torres-Ruíz, R. (Raul), Stam, R.W. (Ronald), Fuster, J.L. (Jose Luis), Fraga, M.F. (Mario F.), Nakanishi, M. (Mahito), Cazzaniga, G. (Gianni), Bardini, M. (Michela), Cobo, I. (Isabel), Bayon, G.F. (Gustavo F.), Fernández, A.F. (Agustin F.), Bueno, C. (Clara), and Menéndez, P. (Pablo)

Abstract

Induced pluripotent stem cells (iPSCs) are a powerful tool for disease modeling. They are routinely generated from healthy donors and patients from multiple cell types at different developmental stages. However, reprogramming leukemias is an extremely inefficient process. Few studies generated iPSCs from primary chronic myeloid leukemias, but iPSC generation from acute myeloid or lymphoid leukemias (ALL) has not been achieved. We attempted to generate iPSCs from different subtypes of B-ALL to address the developmental impact of leukemic fusion genes. OKSM(L)-expressing mono/polycistronic-, retroviral/lentiviral/episomal-, and Sendai virus vector-based reprogramming strategies failed to render iPSCs in vitro and in vivo. Addition of transcriptomic-epigenetic reprogramming “boosters” also failed to generate iPSCs from B cell blasts and B-ALL lines, and when iPSCs emerged they lacked leukemic fusion genes, demonstrating non-leukemic myeloid origin. Conversely, MLL-AF4-overexpressing hematopoietic stem cells/B progenitors were successfully reprogrammed, indicating that B cell origin and leukemic fusion gene were not reprogramming barriers. Global transcriptome/DNA methylome profiling suggested a developmental/differentiation refractoriness of MLL-rearranged B-ALL to reprogramming into pluripotency.

Published
2016
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6. P-054 Application of array-based karyotyping as a complementary tool in the diagnosis of myelodysplastic syndromes and related myeloid neoplasms

Author

Abáigar, M., primary, Lumbreras, E., additional, Sánchez-del-Real, J., additional, Díez-Campelo, M., additional, Cuello, R., additional, Alonso, J.M., additional, Recio, I., additional, Aguilar, C., additional, Hermosín, L., additional, Rodríguez, J.N., additional, Megido, M., additional, Sierra, M., additional, Martín-Núñez, G., additional, González-López, T.J., additional, Vargas, M., additional, Fuster, J.L., additional, Giraldo, P., additional, Robledo, C., additional, Benito, R., additional, and Hernández-Rivas, J.M., additional

Published
2013
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9. Severe combined immunodeficiency: first report of a de novo mutation in the IL2RG gene in a boy conceived by in vitro fertilization.

Author

Moya‐Quiles, M.R., Bernardo‐Pisa, M.V., Menasalvas, A., Alfayate, S., Fuster, J.L., Boix, F., Salgado, G., Muro, M., Minguela, A., Álvarez‐López, M.R., and García‐Alonso, A.M.

Subjects
SEVERE combined immunodeficiency, FERTILIZATION in vitro
Abstract

A letter to the editor is presented on severe combined immunodeficiency in a boy conceived by in vitro fertilization.

Published
2014
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10. Global characteristics and outcomes of SARS-CoV-2 infection in children and adolescents with cancer (GRCCC): a cohort study

Author

Sheena Mukkada, Nickhill Bhakta, Guillermo L Chantada, Yichen Chen, Yuvanesh Vedaraju, Lane Faughnan, Maysam R Homsi, Hilmarie Muniz-Talavera, Radhikesh Ranadive, Monika Metzger, Paola Friedrich, Asya Agulnik, Sima Jeha, Catherine Lam, Rashmi Dalvi, Laila Hessissen, Daniel C Moreira, Victor M Santana, Michael Sullivan, Eric Bouffet, Miguela A Caniza, Meenakshi Devidas, Kathy Pritchard-Jones, Carlos Rodriguez-Galindo, A Juan Ribelles, Adriana Balduzzi, Alaa Elhaddad, Alejandra Casanovas, Alejandra Garcia Velazquez, Aliaksandra Laptsevich, Alicia Chang, Alessandra Lamenha F. Sampaio, Almudena González Prieto, Alvaro Lassaletta, Amaranto Suarez M, Ana Patricia Alcasabas, Anca Colita, Andres Morales La Madrid, Angélica Samudio, Annalisa Tondo, Antonella Colombini, Antonis Kattamis, N Araceli Lopez Facundo, Arpita Bhattacharyya, Aurélia Alimi, Aurélie Phulpin, Barbora Vakrmanova, Basak A Aksoy, Benoit Brethon, Jator Brian Kobuin, Carla Nolasco Monteiro, Catherine Paillard, Catherine Vezina, Bozkurt Ceyhun, Cristiana Hentea, Cristina Meazza, Daniel Ortiz-Morales, Roque Daniel Solorzano, Daniela Arce Cabrera, Daniele Zama, Debjani Ghosh, Diana Ramírez-Rivera, Doris A Calle Jara, Dragana Janic, Elianneth Rey Helo, Elodie Gouache, Enmanuel Guerrero Quiroz, Enrique Lopez, Eric Thebault, Essy Maradiegue, Eva de Berranger, Fatma S E Ebeid, Federica Galaverna, Federico Antillon-Klussmann, Felipe Espinoza Chacur, Fernando Daniel Negro, Francesca Carraro, Francesca Compagno, Francisco Barriga, Gabriela Tamayo Pedraza, Gissela Sanchez Fernandez, Gita Naidu, Gülnur Tokuc, Hamidah Alias, Hannah Grace B Segocio, Houda Boudiaf, Imelda Asetre Luna, Iris Maia, Itziar Astigarraga, Ivan Maza, Jacqueline E Montoya Vásquez, Janez Jazbec, Jelena Lazic, Jeniffer Beck Dean, Jeremie Rouger-Gaudichon, Johanny Carolina Contreras González, Jorge Huerta Aragonés, José L Fuster, Juan Quintana, Julia Palma, Karel Svojgr, Karina Quintero, Karolina Malic Tudor, Kleopatra Georgantzi, Kris Ann P Schultz, Laura Ureña Horno, Lidia Fraquelli, Linda Meneghello, Lobna Shalaby, Lola L Macias Mora, Lorna A Renner, Luciana Nunes Silva, Luisa Sisinni, Mahmoud Hammad, M Fernández Sanmartín, C Marcela Zubieta A, María Constanza Drozdowski, Maria Kourti, Marcela María Palladino, Maria R Miranda Madrazo, Marilyne Poiree, Marina Popova, Mario Melgar, Marta Baragaño, Martha J Avilés-Robles, Massimo Provenzi, Mecneide Mendes Lins, Mehmet Fatih Orhan, Milena Villarroel, Mónica Jerónimo, Mónica Varas Palma, Muhammad Rafie Raza, Mulindwa M Justin, Najma Shaheen, Nerea Domínguez-Pinilla, Nicholas S Whipple, Nicolas André, Ondrej Hrusak, Pablo Velasco Puyó, Pamela Zacasa Vargas, Paola Olate Mellado, Pascale Yola Gassant, Paulina Diaz Romero, Raffaella De Santis, Rejin Kebudi, Riza Boranbayeva, Roberto Vasquez, Romel A. Segura, Roy Enrique Rosado, Sandra Gómez, Sandra Raimbault, Sanjeeva Gunasekera, Sara M Makkeyah, Sema Buyukkapu Bay, Sergio M Gómez, Séverine Bouttefroy, Shahnoor Islam, Sherif Abouelnaga, Silvio Fabio Torres, Simone Cesaro, Sofia Nunes, Soraia Rouxinol, Sucharita Bhaumik, Symbat Saliyeva, Tamara Inostroza, Thelma Velasquez, Tint Myo Hnin, Ulrika Norén-Nyström, Valentina Baretta, Yajaira Valentine Jimenez-Antolinez, Vanesa Pérez Alonso, Vanessa Ayer Miller, Virginie Gandemer, Viviana Lotero, Volha Mishkova, Wendy Gómez-García, Yeva Margaryan, Yumna Syed, Mukkada S., Bhakta N., Chantada G.L., Chen Y., Vedaraju Y., Faughnan L., Homsi M.R., Muniz-Talavera H., Ranadive R., Metzger M., Friedrich P., Agulnik A., Jeha S., Lam C., Dalvi R., Hessissen L., Moreira D.C., Santana V.M., Sullivan M., Bouffet E., Caniza M.A., Devidas M., Pritchard-Jones K., Rodriguez-Galindo C., Ribelles A.J., Balduzzi A., Elhaddad A., Casanovas A., Garcia Velazquez A., Laptsevich A., Chang A., F. Sampaio A.L., Gonzalez Prieto A., Lassaletta A., Suarez M A., Alcasabas A.P., Colita A., Morales La Madrid A., Samudio A., Tondo A., Colombini A., Kattamis A., Lopez Facundo N.A., Bhattacharyya A., Alimi A., Phulpin A., Vakrmanova B., Aksoy B.A., Brethon B., Kobuin J.B., Nolasco Monteiro C., Paillard C., Vezina C., Ceyhun B., Hentea C., Meazza C., Ortiz-Morales D., Solorzano R.D., Arce Cabrera D., Zama D., Ghosh D., Ramirez-Rivera D., Calle Jara D.A., Janic D., Rey Helo E., Gouache E., Guerrero Quiroz E., Lopez E., Thebault E., Maradiegue E., de Berranger E., Ebeid F.S.E., Galaverna F., Antillon-Klussmann F., Espinoza Chacur F., Negro F.D., Carraro F., Compagno F., Barriga F., Tamayo Pedraza G., Sanchez Fernandez G., Naidu G., Tokuc G., Alias H., B Segocio H.G., Boudiaf H., Asetre Luna I., Maia I., Astigarraga I., Maza I., Montoya Vasquez J.E., Jazbec J., Lazic J., Beck Dean J., Rouger-Gaudichon J., Contreras Gonzalez J.C., Huerta Aragones J., Fuster J.L., Quintana J., Palma J., Svojgr K., Quintero K., Malic Tudor K., Georgantzi K., P Schultz K.A., Urena Horno L., Fraquelli L., Meneghello L., Shalaby L., Macias Mora L.L., A Renner L., Nunes Silva L., Sisinni L., Hammad M., Fernandez Sanmartin M., Zubieta A C.M., Drozdowski M.C., Kourti M., Palladino M.M., Miranda Madrazo M.R., Poiree M., Popova M., Melgar M., Baragano M., Aviles-Robles M.J., Provenzi M., Mendes Lins M., Fatih Orhan M., Villarroel M., Jeronimo M., Varas Palma M., Rafie Raza M., M Justin M., Shaheen N., Dominguez-Pinilla N., Whipple N.S., Andre N., Hrusak O., Velasco Puyo P., Zacasa Vargas P., Olate Mellado P., Yola Gassant P., Diaz Romero P., De Santis R., Kebudi R., Boranbayeva R., Vasquez R., Segura R.A., Rosado R.E., Gomez S., Raimbault S., Gunasekera S., Makkeyah S.M., Buyukkapu Bay S., M Gomez S., Bouttefroy S., Islam S., Abouelnaga S., Torres S.F., Cesaro S., Nunes S., Rouxinol S., Bhaumik S., Saliyeva S., Inostroza T., Velasquez T., Hnin T.M., Noren-Nystrom U., Baretta V., Jimenez-Antolinez Y.V., Perez Alonso V., Ayer Miller V., Gandemer V., Lotero V., Mishkova V., Gomez-Garcia W., Margaryan Y., Syed Y., Mukkada, S, Bhakta, N, Chantada, G, Chen, Y, Vedaraju, Y, Faughnan, L, Homsi, M, Muniz-Talavera, H, Ranadive, R, Metzger, M, Friedrich, P, Agulnik, A, Jeha, S, Lam, C, Dalvi, R, Hessissen, L, Moreira, D, Santana, V, Sullivan, M, Bouffet, E, Caniza, M, Devidas, M, Pritchard-Jones, K, Rodriguez-Galindo, C, Ribelles, A, Balduzzi, A, Elhaddad, A, Casanovas, A, Garcia Velazquez, A, Laptsevich, A, Chang, A, F. Sampaio A., L, Gonzalez Prieto, A, Lassaletta, A, Suarez M, A, Alcasabas, A, Colita, A, Morales La Madrid, A, Samudio, A, Tondo, A, Colombini, A, Kattamis, A, Lopez Facundo, N, Bhattacharyya, A, Alimi, A, Phulpin, A, Vakrmanova, B, Aksoy, B, Brethon, B, Kobuin, J, Nolasco Monteiro, C, Paillard, C, Vezina, C, Ceyhun, B, Hentea, C, Meazza, C, Ortiz-Morales, D, Solorzano, R, Arce Cabrera, D, Zama, D, Ghosh, D, Ramirez-Rivera, D, Calle Jara, D, Janic, D, Rey Helo, E, Gouache, E, Guerrero Quiroz, E, Lopez, E, Thebault, E, Maradiegue, E, de Berranger, E, Ebeid, F, Galaverna, F, Antillon-Klussmann, F, Espinoza Chacur, F, Negro, F, Carraro, F, Compagno, F, Barriga, F, Tamayo Pedraza, G, Sanchez Fernandez, G, Naidu, G, Tokuc, G, Alias, H, B Segocio, H, Boudiaf, H, Asetre Luna, I, Maia, I, Astigarraga, I, Maza, I, Montoya Vasquez, J, Jazbec, J, Lazic, J, Beck Dean, J, Rouger-Gaudichon, J, Contreras Gonzalez, J, Huerta Aragones, J, Fuster, J, Quintana, J, Palma, J, Svojgr, K, Quintero, K, Malic Tudor, K, Georgantzi, K, P Schultz, K, Urena Horno, L, Fraquelli, L, Meneghello, L, Shalaby, L, Macias Mora, L, A Renner, L, Nunes Silva, L, Sisinni, L, Hammad, M, Fernandez Sanmartin, M, Zubieta A, C, Drozdowski, M, Kourti, M, Palladino, M, Miranda Madrazo, M, Poiree, M, Popova, M, Melgar, M, Baragano, M, Aviles-Robles, M, Provenzi, M, Mendes Lins, M, Fatih Orhan, M, Villarroel, M, Jeronimo, M, Varas Palma, M, Rafie Raza, M, M Justin, M, Shaheen, N, Dominguez-Pinilla, N, Whipple, N, Andre, N, Hrusak, O, Velasco Puyo, P, Zacasa Vargas, P, Olate Mellado, P, Yola Gassant, P, Diaz Romero, P, De Santis, R, Kebudi, R, Boranbayeva, R, Vasquez, R, Segura, R, Rosado, R, Gomez, S, Raimbault, S, Gunasekera, S, Makkeyah, S, Buyukkapu Bay, S, M Gomez, S, Bouttefroy, S, Islam, S, Abouelnaga, S, Torres, S, Cesaro, S, Nunes, S, Rouxinol, S, Bhaumik, S, Saliyeva, S, Inostroza, T, Velasquez, T, Hnin, T, Noren-Nystrom, U, Baretta, V, Jimenez-Antolinez, Y, Perez Alonso, V, Ayer Miller, V, Gandemer, V, Lotero, V, Mishkova, V, Gomez-Garcia, W, Margaryan, Y, and Syed, Y

Subjects
Male, Pediatrics, medicine.medical_specialty, COVID-19, Children, adolescents, cancer, Adolescent, MEDLINE, Severity of Illness Index, Health systems, Neoplasms, purl.org/becyt/ford/3.2 [https], Severity of illness, medicine, Humans, Child, Children, Pandemics, Pandemic, business.industry, SARS-CoV-2, Risk Factor, Infant, Newborn, Infant, Cancer, COVID-19, Odds ratio, Articles, medicine.disease, Transplantation, Oncology, Child, Preschool, Cohort, Absolute neutrophil count, Neoplasm, purl.org/becyt/ford/3 [https], Female, Cohort Studie, business, Delivery of Health Care, Human, Cohort study
Abstract

Background: Previous studies have shown that children and adolescents with COVID-19 generally have mild disease. Children and adolescents with cancer, however, can have severe disease when infected with respiratory viruses. In this study, we aimed to understand the clinical course and outcomes of SARS-CoV-2 infection in children and adolescents with cancer. Methods: We did a cohort study with data from 131 institutions in 45 countries. We created the Global Registry of COVID-19 in Childhood Cancer to capture de-identified data pertaining to laboratory-confirmed SARS-CoV-2 infections in children and adolescents (

Published
2021

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