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7 p, 660.3 KB |
Clinical characteristics of patients with central nervous system relapse in BCR-ABL1-positive acute lymphoblastic leukemia : the importance of characterizing ABL1 mutations in cerebrospinal fluid
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Sanchez, R. (Hospital 12 de Octubre (Madrid)) ;
Ayala, Rosa (Hospital 12 de Octubre (Madrid)) ;
Alonso, R.A. (Hospital 12 de Octubre (Madrid)) ;
Martínez, M.P. (Hospital 12 de Octubre (Madrid)) ;
Ribera, Jordi (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
García, Olga (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Sanchez-Pina, J. (Hospital 12 de Octubre (Madrid)) ;
Mercadal, S. (ICO-Hospital Duran i Reynals (Bellvitge)) ;
Montesinos, P. (Hospital Universitari i Politècnic La Fe de València) ;
Martino Bofarull, Rodrigo (Institut d'Investigació Biomèdica Sant Pau) ;
Barba, Pere (Hospital Universitari Vall d'Hebron) ;
González-Campos, J. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Barrios, M. (Hospital Regional Universitario Carlos Haya (Málaga)) ;
Lavilla, E. (Hospital Universitario Lucus Augusti (Lugo)) ;
Gil, C. (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Bernal, T. (Hospital Universitario Central de Asturias) ;
Escoda, Lourdes (Hospital Universitari Joan XXIII de Tarragona) ;
Abella Monreal, Eugenia (Hospital del Mar (Barcelona, Catalunya)) ;
Amigo, María-Luz (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Moreno, M.J. (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Bravo, P. (Hospital de Fuenlabrada) ;
Guàrdia, R. (Hospital Universitari de Girona Doctor Josep Trueta) ;
Hernández-Rivas, J.M. (Hospital Universitario de Salamanca) ;
García-Guiñón, A. (Hospital Universitari Arnau de Vilanova) ;
Piernas, Sonia (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ribera, José Maria (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Martínez-López, J. (Hospital 12 de Octubre (Madrid)) ;
Universitat Autònoma de Barcelona
We investigated the frequency, predictors, and evolution of acute lymphoblastic leukemia (ALL) in patients with CNS relapse and introduced a novel method for studying BCR-ABL1 protein variants in cDNA from bone marrow (BM) and cerebrospinal fluid (CSF) blast cells. [...]
2017 -  10.1007/s00277-017-3002-1
Annals of Hematology, Vol. 96 Núm. 7 (january 2017) , p. 1069-1075
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22 p, 2.4 MB |
High mutational heterogeneity, and new mutations in the human coagulation factor v gene. Future perspectives for factor v deficiency using recombinant and advanced therapies
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Bernal, Sara (Institut d'Investigació Biomèdica Sant Pau) ;
Pelaez, Irene (Hospital Universitario Virgen de las Nieves (Granada)) ;
Alías, Laura (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Baena, Manel (Institut d'Investigació Biomèdica Sant Pau) ;
Pablo-Moreno, Juan A.D. (Department of Genetic. Physiology and Microbiology. School of Biology. Complutense University) ;
Serrano, Luis J. (Department of Genetic. Physiology and Microbiology. School of Biology. Complutense University) ;
Camero, Maria Dolores (Association for the Investigation and Cure of Factor V Deficiency) ;
Tizzano, Eduardo F. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Berrueco, Rubén (Institut de Recerca Sant Joan de Déu) ;
Liras, Antonio (Department of Genetic. Physiology and Microbiology. School of Biology. Complutense University)
Factor V is an essential clotting factor that plays a key role in the blood coagulation cascade on account of its procoagulant and anticoagulant activity. Eighty percent of circulating factor V is produced in the liver and the remaining 20% originates in the α-granules of platelets. [...]
2021 - 10.3390/ijms22189705
International journal of molecular sciences, Vol. 22 Núm. 18 (september 2021) , p. 9705
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13 p, 4.7 MB |
Unraveling the cellular origin and clinical prognostic markers of infant B-cell acute lymphoblastic leukemia using genome-wide analysis
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Agraz-Doblás, Antonio (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Bueno, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Rogers, R. B. (Department of Medicine. University of Cambridge. Cambridge Biomedical Campus) ;
Roy, A. (Department of Paediatrics. University of Oxford) ;
Schneider, P. (Princess Maxima Center for Pediatric Oncology) ;
Bardini, Michela (Università degli Studi di Milano-Bicocca) ;
Ballerini, Paola (Pediatric Hematology. A. Trousseau Hospital) ;
Cazzaniga, Giovanni (Centro Ricerca Tettamanti. Department of Pediatrics. University of Milano Bicocca. Fondazione MBBM) ;
Moreno, T. (Instituto de Biomedicina y Biotecnología de Cantabria. Universidad de Cantabria-CSIC) ;
Revilla, C. (Instituto de Biomedicina y Biotecnología de Cantabria. Universidad de Cantabria-CSIC) ;
Gut, Marta (Universitat Pompeu Fabra) ;
Valsecchi, M. G. (Interfant Trial Data Center. University of Milano-Bicocca) ;
Roberts, I. (MRC Molecular Haematology Unit. MRC Weatherall Institute of Molecular Medicine. University of Oxford) ;
Pieters, R. (Princess Maxima Center for Pediatric Oncology) ;
De Lorenzo, P. (Interfant Trial Data Center. University of Milano-Bicocca) ;
Varela, Ignacio (Instituto de Biomedicina y Biotecnología de Cantabria. Universidad de Cantabria-CSIC) ;
Menéndez Bujan, Pablo (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Stam, R. W. (Princess Maxima Center for Pediatric Oncology) ;
Universitat Autònoma de Barcelona
Bcell acute lymphoblastic leukemia is the commonest childhood cancer. In infants, B-cell acute lymphoblastic leukemia remains fatal, especially in patients with t(4;11), present in ~80% of cases. The pathogenesis of t(4;11)/KMT2A-AFF1 (MLL-AF4) infant B-cell acute lymphoblastic leukemia remains difficult to model, and the pathogenic contribution in cancer of the reciprocal fusions resulting from derivative translocated-chromosomes remains obscure. [...]
2019 - 10.3324/haematol.2018.206375
Haematologica, Vol. 104 Núm. 6 (2019) , p. 1176-1188
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14 p, 5.6 MB |
The role of ZFP57 and additional KRAB-zinc finger proteins in the maintenance of human imprinted methylation and multi-locus imprinting disturbances
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Monteagudo-Sánchez, Ana (Institut d'Investigació Biomèdica de Bellvitge) ;
Hernandez Mora, J. R. (Institut d'Investigació Biomèdica de Bellvitge) ;
Simon, C. (Department of Obstetrics and Gynecology. BIDMC. Harvard University) ;
Burton, A. (Institute of Epigenetics and Stem Cells. Helmholtz Zentrum München) ;
Tenorio, Jair (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Lapunzina, Pablo (ITHACA. European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability) ;
Clark, S. (Epigenetics Programme. The Babraham Institute) ;
Esteller, M. (Centro de Investigación Biomédica en Red de Cáncer) ;
Kelsey, G. (University of Cambridge. Centre for Trophoblast Research) ;
López-Siguero, J. P. (Hospital Regional Universitario Carlos Haya (Málaga)) ;
De Nanclares, G. P. (Instituto de Investigación Sanitaria Bioaraba (Vitoria, País Basc)) ;
Torres-Padilla, M. E. (Institute of Epigenetics and Stem Cells. Helmholtz Zentrum München) ;
Monk, D. (University of East Anglia. Biomedical Research Centre) ;
Universitat Autònoma de Barcelona
Genomic imprinting is an epigenetic process regulated by germline-derived DNA methylation that is resistant to embryonic reprogramming, resulting in parental origin-specific monoallelic gene expression. [...]
2020 - 10.1093/nar/gkaa837
Nucleic acids research, Vol. 48 Núm. 20 (18 2020) , p. 11394-11407
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9 p, 559.7 KB |
Validation of Cell-Free DNA Collection Tubes for Determination of EGFR Mutation Status in Liquid Biopsy from NSCLC Patients
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Sesé, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Somoza, Rosa (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Maestu, Inmaculada (Hospital Universitari Doctor Peset (València)) ;
Ureste, Maria Martín (Hospital Universitari Doctor Peset (València)) ;
Sánchez Hernández, Alfredo (Consorci Hospitalari Provincial de Castelló) ;
Córdoba Ortega, Juan Felipe (Hospital Arnau de Vilanova (Lleida, Catalunya)) ;
Sansano, Irene (Hospital Universitari Vall d'Hebron) ;
Venturas, Griselda (Hospital Universitari Vall d'Hebron) ;
Ramón y Cajal, Santiago (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Hernandez-Losa, Javier (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
Precision medicine has revolutionized the understanding and treatment of cancer by identifying subsets of patients who are amenable to specific treatments according to their molecular characteristics, as exemplified by epidermal growth factor receptor (EGFR) mutations in non-small cell lung cancer (NSCLC). [...]
2019 - 10.1007/s40487-019-00099-9
Oncology and Therapy, Vol. 7 (august 2019) , p. 131-139
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14 p, 5.0 MB |
Single-cell telomere-length quantification couples telomere length to meristem activity and stem cell development in Arabidopsis
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González-García, Mary Paz (Centre de Recerca en Agrigenòmica) ;
Pavelescu, Irina (Centre de Recerca en Agrigenòmica) ;
Canela, Andrés (Centro Nacional de Investigaciones Oncológicas) ;
Sevillano, Xavier (Universitat Ramon Llull. Grup de Recerca en Tecnologies Mèdia) ;
Leehy, Katherine A. (Texas A&M University. Department of Biochemistry and Biophysics) ;
Nelson, Andrew D. L. (Texas A&M University. Department of Biochemistry and Biophysics) ;
Ibañes, Marta (Universitat de Barcelona. Departament d'Estructura i Constituents de la Matèria) ;
Shippen, Dorothy E. (Texas A&M University. Department of Biochemistry and Biophysics) ;
Blasco, María A. (Centro Nacional de Investigaciones Oncológicas) ;
Caño Delgado, Ana I. (Centre de Recerca en Agrigenòmica)
Telomeres are specialized nucleoprotein caps that protect chromosome ends assuring cell division. Single-cell telomere quantification in animals established a critical role for telomerase in stem cells, yet, in plants, telomere-length quantification has been reported only at the organ level. [...]
2015 - 10.1016/j.celrep.2015.04.013
Cell reports, Vol. 11, issue 6 (May 2015) , p. 977-989
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17 p, 1.1 MB |
Screening of CACNA1A and ATP1A2 genes in hemiplegic migraine : clinical, genetic, and functional studies
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Carreño, Oriel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Corominas, Roser (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Serra, Selma Angèlica (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Sintas, Cèlia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Fernández-Castillo, Noelia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Vila-Pueyo, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Toma, Claudio (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Gené, Gemma G. (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Pons, Roser (University of Athens. First Department of Pediatrics) ;
Llaneza, Miguel (Sección de Neurología, Complejo Hospitalario Arquitecto Marcide-Novoa Santos) ;
Sobrido, María-Jesús (Fundación Pública Galega de Medicina Xenómica) ;
Grinberg, Daniel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Valverde, Miguel Ángel (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Fernández-Fernández, José Manuel (Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Cormand, Bru (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Hemiplegic migraine (HM) is a rare and severe subtype of autosomal dominant migraine, characterized by a complex aura including some degree of motor weakness. Mutations in four genes (CACNA1A, ATP1A2, SCN1A and PRRT2) have been detected in familial and in sporadic cases. [...]
2013 - 10.1002/mgg3.24
Molecular genetics & genomic medicine, Vol. 1 (july 2013) , p. 206-222
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