Publicaciones científicas

Se han encontrado 1424 publicaciones con los criterios indicados.
Joshi R, Castro De Moura M, Piñeyro D, Alvarez-Errico D, Arribas C, Esteller M

The DNA methylation landscape of human cancer organoids available at the American type culture collection.

Epigenetics 12 May 2020, 1-11. Epub 12 May 2020
One caveat in cancer research is the dependence of certain experimental systems that might not really reflect the properties of the primary tumours. The recent irruption of 3D cultured cells termed organoids could render a better representation of the original tumour sample. However, every laboratory has its own protocol and tissue-provider to establish these cancer models, preventing further dissemination and validation of the obtained data. To address this problem, the Human Cancer Models Initiative (HCMI) has selected the American Type Culture Collection (ATCC) to make available organoid models to the scientific community. In this regard, no epigenetic information is available for these samples and, overall, the DNA methylation profiles of human cancer organoids are largely unknown. Herein, we provide the DNA methylation landscape of 25 human cancer organoids available at the ATCC using a microarray that interrogates more than 850,000 CpG sites. We observed that the studied organoids retain the epigenetic setting of their original primary cancer type; that exhibit a DNA methylation landscape characteristic of transformed tissues excluding an overgrowth of normal-matched cells; and that are closer to the DNA methylation profiles of the corresponding primary tumours than to established 2D cell lines. Most importantly, the obtained DNA methylation results are freely available to everyone for further data mining. Thus, our findings support from the epigenetic standpoint that the ATCC human cancer organoids recapitulate many of the features of the disorder in the patient and are excellent tools to be shared among investigators for further tumour biology research.
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Massoni-Badosa R, Iacono G, Moutinho C, Kulis M, Palau N, Marchese D, Rodríguez-Ubreva J, Ballestar E, Rodriguez-Esteban G, Marsal S, Aymerich M, Colomer D, Campo E, Julià A, Martín-Subero JI, Heyn H

Sampling time-dependent artifacts in single-cell genomics studies.

Genome Biol. 11 May 2020, 21 (1) 112. Epub 11 May 2020
Robust protocols and automation now enable large-scale single-cell RNA and ATAC sequencing experiments and their application on biobank and clinical cohorts. However, technical biases introduced during sample acquisition can hinder solid, reproducible results, and a systematic benchmarking is required before entering large-scale data production. Here, we report the existence and extent of gene expression and chromatin accessibility artifacts introduced during sampling and identify experimental and computational solutions for their prevention.
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Vives Corrons JL, De Sanctis V

Rare Anaemias, Sickle-Cell Disease and COVID-19.

Acta Biomed 11 May 2020, 91 (2) 216-217. Epub 11 May 2020
For rare haematological diseases (RHD), the first question to be answered is if patients with be- nign red blood cell (RBC) defects like haemoglobinopathies, membranopathies and enzymopathies are more vulnerable to COVID-19 infection. Up to now, there is no yet literature on the subject, but, like in general population, the presence of comorbidities such as diabetes, heart disease, pulmonary hypertension, reduced kidney and/or liver function, worsen the effects of the infection. Splenectomy may be an additional risk factor.
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Torres-Gomez A, Sanchez-Trincado JL, Toribio V, Torres-Ruiz R, Rodríguez-Perales S, Yáñez-Mó M, Reche PA, Cabañas C, Lafuente EM

RIAM-VASP Module Relays Integrin Complement Receptors in Outside-In Signaling Driving Particle Engulfment.

Cells 8 May 2020, 9 (5) . Epub 8 May 2020
The phagocytic integrins and complement receptors α
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Sanz J, Galimard JE, Labopin M, Afanasyev B, Angelucci E, Ciceri F, Blaise D, Cornelissen JJ, Meijer E, Diez-Martin JL, Koc Y, Rovira M, Castagna L, Savani B, Ruggeri A, Nagler A, Mohty M

Post-transplant cyclophosphamide after matched sibling, unrelated and haploidentical donor transplants in patients with acute myeloid leukemia: a comparative study of the ALWP EBMT.

J Hematol Oncol 6 May 2020, 13 (1) 46. Epub 6 May 2020
The use of post-transplant cyclophosphamide (PTCy) is highly effective in preventing graft-versus-host disease (GVHD) in the haploidentical (Haplo) transplant setting and is being increasingly used in matched sibling (MSD) and matched unrelated (MUD) transplants. There is no information on the impact of donor types using homogeneous prophylaxis with PTCy.
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Bazarbachi A, Labopin M, Angelucci E, Gülbas Z, Ozdogu H, Arat M, de Rosa L, Pastano R, Pioltelli P, Montserrat R, Martino M, Ciceri F, Koç Y, Socié G, Blaise D, Herrera C, Chalandon Y, Bernasconi P, Marotta G, Castagna L, McDonald A, Visani G, Carluccio P, Vitek A, Simand C, Afanasyev B, Rösler W, Diez-Martin JL, Nagler A, Brissot E, Giebel S, Mohty M

Haploidentical Transplantation with Post-Transplantation Cyclophosphamide for T Cell Acute Lymphoblastic Leukemia: A Report from the European Society for Blood and Marrow Transplantation Acute Leukemia Working Party.

Biol. Blood Marrow Transplant. May 2020, 26 (5) 936-942. Epub 9 Ene 2020
Allogeneic hematopoietic cell transplantation (HCT) is recommended in high-risk patients with T cell acute lymphoblastic leukemia (T-ALL). For patients without an HLA-identical donor, haploidentical (haplo-) HCT is becoming the leading source of stem cell donation. However, data are scarce on predictive factors for outcome in that setting. We identified 122 adults (20% female; median age, 31 years; range, 18 to 68 years) with T-ALL who underwent haplo-HCT with post-transplantation cyclophosphamide (ptCy) between 2010 and 2017. The median duration of follow-up of living patients was 23 months. The 2-year incidences of relapse and nonrelapse mortality were 45% and 21%, respectively. The 2-year leukemia-free survival (LFS), overall survival (OS), and graft-versus-host disease, relapse-free survival (GRFS) were 34%, 42%, and 27%, respectively. The 2-year LFS and OS were highly influenced by disease status at transplantation, being 49% and 55%, respectively, for patients in first complete remission (CR1); 34% and 50%, respectively, for those in second CR (CR2); and 8% and 12%, respectively, for patients with active disease. On multivariate analysis, only disease status was found to affect LFS and OS. Transplantation in CR2 negatively affected LFS, whereas active disease at the time of haplo-HCT negatively affected LFS and OS. In conclusion, haplo-HCT with ptCy produced encouraging results in this challenging disease, particularly when performed in patients in CR. Despite the limitation of the small sample size, our results were not affected by the type of conditioning, calling into question the need for total body irradiation-based myeloablative conditioning in that setting.
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Gutiérrez-García G, Rovira M, Arab N, Gallego C, Sánchez J, Ángeles Álvarez M, Ayora P, Domenech A, Borràs N, Gerardo Rodríguez-Lobato L, Rosiñol L, Marín P, Pedraza A, Martínez-Roca A, Carcelero E, Dolores Herrera M, Teresa Solano M, Ramos C, de Llobet N, Serrahima A, Lozano M, Cid J, Martínez C, Suárez-Lledó M, Urbano-Ispizua Á, Fernández-Avilés F

A reproducible and safe at-home allogeneic haematopoietic cell transplant program: first experience in Central and Southern Europe.

Bone Marrow Transplant. May 2020, 55 (5) 965-973. Epub 13 Ene 2020
In 2015, we implemented an at-home allogeneic haematopoietic cell transplant (allo-HCT) program. Between 2015 and 2018, 252 patients underwent allo-HCT; 41 patients underwent allo-HCT in the at-home program (46% myeloablative; 63% unrelated donor; 32% posttransplant cyclophosphamide), and these patients were compared with 39 in-patients; safety, capacity to release beds for other programs, and economic efficiency cost were evaluated. We observed a lower incidence of febrile neutropenia in the at-home group compared with that in the in-patient group (32% versus 90%; p < 0.0001), whereas the incidence of aspergillosis was similar among groups (at-home 1% versus in-patient 3%; p = 0.5). The at-home patients showed a lower incidence of 1-year severe graft-versus-host disease (GVHD; 10% versus 29%; p = 0.03). There were no differences in 1-year transplant-related mortality, relapse, or overall survival among groups. The re-admission rate in the at-home group was 7%. The at-home setting was less expensive (9087 €/transplant), and its implementation increased capacity by 10.5 allo-HCTs/year. Moreover, a chimeric antigen receptor T-cell program could be established without increasing beds. Thus, our at-home allo-HCT program may be a safe modality to reduce febrile neutropenia and acute GVHD, resulting in lower re-admission rates.
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Hajek R, Pour L, Ozcan M, Martin Sánchez J, García Sanz R, Anagnostopoulos A, Oriol A, Cascavilla N, Terjung A, Lee Y, Briso EM, Dobkowska E, Hauns B, Špička I

A phase 2 study of ibrutinib in combination with bortezomib and dexamethasone in patients with relapsed/refractory multiple myeloma.

Eur. J. Haematol. May 2020, 104 (5) 435-442. Epub 7 Mar 2020
We evaluated ibrutinib, a once-daily inhibitor of Bruton's tyrosine kinase, combined with bortezomib and dexamethasone in patients with relapsed or relapsed/refractory multiple myeloma who had received 1-3 prior therapies.
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Hurtado-Bagès S, Posavec Marjanovic M, Valero V, Malinverni R, Corujo D, Bouvet P, Lavigne AC, Bystricky K, Buschbeck M

The Histone Variant MacroH2A1 Regulates Key Genes for Myogenic Cell Fusion in a Splice-Isoform Dependent Manner.

Cells 30 Abr 2020, 9 (5) . Epub 30 Abr 2020
MacroH2A histone variants have functions in differentiation, somatic cell reprogramming and cancer. However, at present, it is not clear how macroH2As affect gene regulation to exert these functions. We have parted from the initial observation that loss of total macroH2A1 led to a change in the morphology of murine myotubes differentiated ex vivo. The fusion of myoblasts to myotubes is a key process in embryonic myogenesis and highly relevant for muscle regeneration after acute or chronic injury. We have focused on this physiological process, to investigate the functions of the two splice isoforms of macroH2A1. Individual perturbation of the two isoforms in myotubes forming in vitro from myogenic C2C12 cells showed an opposing phenotype, with macroH2A1.1 enhancing, and macroH2A1.2 reducing, fusion. Differential regulation of a subset of fusion-related genes encoding components of the extracellular matrix and cell surface receptors for adhesion correlated with these phenotypes. We describe, for the first time, splice isoform-specific phenotypes for the histone variant macroH2A1 in a physiologic process and provide evidence for a novel underlying molecular mechanism of gene regulation.
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Conley BA, Staudt L, Takebe N, Wheeler DA, Wang L, Cardenas MF, Korchina V, Zenklusen JC, McShane LM, Tricoli JV, Williams PM, Lubensky I, O'Sullivan-Coyne G, Kohn E, Little RF, White J, Malik S, Harris LN, Mann B, Weil C, Tarnuzzer R, Karlovich C, Rodgers B, Shankar L, Jacobs PM, Nolan T, Berryman SM, Gastier-Foster J, Bowen J, Leraas K, Shen H, Laird PW, Esteller M, Miller V, Johnson A, Edmondson EF, Giordano TJ, Kim B, Ivy SP

The Exceptional Responders Initiative: Feasibility of A National Cancer Institute Pilot Study.

J. Natl. Cancer Inst. 27 Abr 2020, . Epub 27 Abr 2020
Tumor molecular profiling from patients experiencing exceptional responses to systemic therapy may provide insights into cancer biology and improve treatment tailoring. This pilot study evaluates the feasibility of identifying exceptional responders retrospectively, obtaining pre-exceptional response treatment tumor tissues, and analyzing them with state-of-the-art molecular analysis tools to identify potential molecular explanations for responses.
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