dc.contributor
Institut Català de la Salut
dc.contributor
[Romero-Moya D, Torralba-Sales E] Regenerative Medicine Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. [Pera J] Regenerative Medicine Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. Department of Hematology and Oncology, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Deu, Barcelona, Spain. [Marin-Bejar O] Regenerative Medicine Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. Germans Trias i Pujol Health Science Research Institute (IGTP), Cancer Program, Badalona, Spain. [Murillo-Sanjuán L, Diaz-de-Heredia C] Servei d’Hematologia i Oncologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Montoro J] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.contributor
Vall d'Hebron Barcelona Hospital Campus
dc.contributor.author
Romero-Moya, Damia
dc.contributor.author
Pera, Joan
dc.contributor.author
Marin-Bejar, Oskar
dc.contributor.author
Torralba Sales, Eric
dc.contributor.author
Murillo-Sanjuán, Laura
dc.contributor.author
Diaz de Heredia, Cristina
dc.contributor.author
MONTORO, JULIA
dc.date.accessioned
2025-05-03T13:38:57Z
dc.date.available
2025-05-03T13:38:57Z
dc.date.issued
2025-04-17T07:15:49Z
dc.date.issued
2025-04-17T07:15:49Z
dc.identifier
Romero-Moya D, Pera J, Marin-Bejar O, Torralba-Sales E, Murillo-Sanjuán L, Diaz-de-Heredia C, et al. Multiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency. Leukemia. 2025 Apr;39:962-6.
dc.identifier
http://hdl.handle.net/11351/12966
dc.identifier
10.1038/s41375-025-02519-4
dc.identifier
001412222800001
dc.identifier.uri
http://hdl.handle.net/11351/12966
dc.description.abstract
Phenotyp; Epigenetic profile; GATA2 deficiency
dc.description.abstract
Fenotip; Perfil epigenètic; Deficiència de GATA2
dc.description.abstract
Fenotipo; Perfil epigenético; Deficiencia de GATA2
dc.description.abstract
This work was supported by ERA PerMed GATA2-HuMo Funding Mechanism (Spain: Acció instrumental de SLT011/18/00006 of the Department of Health of the Government of Catalonia), Ministerio de Ciencia e Innovación, which is part of Agencia Estatal de Investigación (AEI), through the Retos Investigación grant, number PID2020-115591RB-I00 / https://doi.org/10.13039/501100011033, Fundació La Marató TV3 228/C/2020, EJP RD-Instituto de Salud Carlos III (AC23_2/00040), and Instituto de Salud Carlos III “Programa Fortalece del Ministerio de Ciencia e Innovación” (FORT23/00032) to AG. Funding for this project was provided in part by an EHA Research Grant award granted by the European Hematology Association (KOG-202109-01162). JP was supported by Fundació La Marató TV3 228/C/2020. DR-M was supported by Deutsche José Carreras Leukämie-Stiftung, DJCLS 13R/2022. OM-B is currently supported by the Ramón y Cajal contract (RYC2021-032129-I) funded by AEI/European Social Fund, UE). This project has received funding from the European Union’s Horizon 2020 research and innovation program under the Marie Sklodowska-Curie grant agreement No 101029927. We thank the CERCA Program / Generalitat de Catalunya for institutional support.
dc.format
application/pdf
dc.publisher
Springer Nature
dc.relation
https://doi.org/10.1038/s41375-025-02519-4
dc.relation
info:eu-repo/grantAgreement/EC/H2020/101029927
dc.rights
Attribution-NonCommercial-NoDerivatives 4.0 International
dc.rights
http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights
info:eu-repo/semantics/openAccess
dc.subject
Sang - Malalties - Aspectes genètics
dc.subject
Malalties congènites
dc.subject
Anomalies cromosòmiques
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Malalties immunològiques - Aspectes genètics
dc.subject
DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::GATA2 Deficiency
dc.subject
Other subheadings::Other subheadings::Other subheadings::/genetics
dc.subject
PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype
dc.subject
PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation
dc.subject
DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases
dc.subject
PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype
dc.subject
DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease
dc.subject
ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::deficiencia de GATA2
dc.subject
Otros calificadores::Otros calificadores::Otros calificadores::/genética
dc.subject
FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo
dc.subject
FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación
dc.subject
ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas
dc.subject
FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo
dc.subject
ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad
dc.title
Multiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency
dc.type
info:eu-repo/semantics/article
dc.type
info:eu-repo/semantics/publishedVersion
