EUropean network for neurodevelopmental RASopathies

Informazioni relative al progetto

EURAS

ID dell’accordo di sovvenzione: 101080580

DOI

10.3030/101080580

Data della firma CE 6 Aprile 2023

Data di avvio 1 Giugno 2023

Data di completamento 31 Maggio 2027

Finanziato da

• Health

Costo totale

€ 8 048 715,25

Contributo UE

€ 8 048 715,25

Coordinato da

UNIVERSITATSKLINIKUM ERLANGEN
Germany

CORDIS fornisce collegamenti ai risultati finali pubblici e alle pubblicazioni dei progetti ORIZZONTE.

I link ai risultati e alle pubblicazioni dei progetti del 7° PQ, così come i link ad alcuni tipi di risultati specifici come dataset e software, sono recuperati dinamicamente da .OpenAIRE .

Risultati finali

Documents, reports (1)

Patient Board is formed

Patient Board is formed and first session performed.

Websites, patent fillings, videos etc. (1)

Project website with contents for publics, experts, and patients

Regularly updated website with EURAS aims, activities and results, with public and secure area and links to social media channels

Data sets, microdata, etc (1)

Domain-specific set of common data elements (DCDEs) publication

The DCDEs for neurodevelopmental RASopathies defined and published.

Pubblicazioni

Peer reviewed articles (15)

Epigenetic profiles in blood and adipose tissue: identifying strong correlations in morbidly obese and non-obese patients

Autori: Antonio Cantarero-Cuenca, Andres Gonzalez-Jimenez, Gracia M. Martínez-Núñez, Lourdes Garrido-Sánchez, Juan A. G. Ranea, Francisco J. Tinahones
Pubblicato in: Journal of Molecular Medicine, Numero 102, 2024, ISSN 0946-2716
Editore: Springer Science and Business Media LLC
DOI: 10.1007/S00109-024-02475-Z

Frontiers in Pharmacology

Autori: Elena Díaz-Santiago; Aurelio A. Moya-García; Jesús Pérez-García; Raquel Yahyaoui; Raquel Yahyaoui; Christine Orengo; Florencio Pazos; James R. Perkins; James R. Perkins; James R. Perkins; Juan A.
Pubblicato in: Frontiers in Pharmacology, 2025, ISSN 1663-9812
Editore: Frontiers Media S.A.
DOI: 10.3389/FPHAR.2024.1470931

Celebrating the Birthday of AMPA Receptor Nanodomains: Illuminating the Nanoscale Organization of Excitatory Synapses with 10 Nanocandles

Autori: Yuko Fukata, Masaki Fukata, Harold D. MacGillavry, Deepak Nair, Eric Hosy
Pubblicato in: The Journal of Neuroscience, Numero 44, 2024, ISSN 0270-6474
Editore: Society for Neuroscience
DOI: 10.1523/JNEUROSCI.2104-23.2024

Role of miRNA–mRNA Interactome in Pathophysiology of Arrhythmogenic Cardiomyopathy

Autori: Fernando Bonet; Oscar Campuzano; José Córdoba-Caballero; Mireia Alcalde; Georgia Sarquella-Brugada; Aitana Braza-Boïls; Ramon Brugada; Francisco Hernández-Torres; Maribel Quezada-Feijoo; Monica Ramos; Alipio Mangas; Juan A. G. Ranea; Rocío Toro
Pubblicato in: Biomedicines, 2024, ISSN 2227-9059
Editore: MDPI (Multidisciplinary Digital Publishing Institute)
DOI: 10.3390/BIOMEDICINES12081807

Briefings in Bioinformatics

Autori: Federico García-Criado; Pedro Seoane; Elena Rojano; Juan A G Ranea; James R Perkins
Pubblicato in: Briefings in Bioinformatics, 2025, ISSN 1467-5463
Editore: Oxford University Press
DOI: 10.1093/BIB/BBAF320

Exploring miRNA–target gene pair detection in disease with coRmiT

Autori: Jose Cordoba-Caballero, James R Perkins, Federico García-Criado, Diana Gallego, Alicia Navarro-Sánchez, Mireia Moreno-Estellés, Concepción Garcés, Fernando Bonet, Carlos Romá-Mateo, Rocio Toro, Belén Perez, Pascual Sanz, Matthias Kohl, Elena Rojano, Pedro Seoane, Juan A G Ranea
Pubblicato in: Briefings in Bioinformatics, Numero 25, 2024, ISSN 1467-5463
Editore: Oxford University Press (OUP)
DOI: 10.1093/bib/bbae060

Integrative Transcriptomic and Network-Based Analysis of Neuromuscular Diseases

Autori: Federico García-Criado, Lucia Hurtado-García, Elena Rojano, Álvaro Esteban-Martos, Jesús Pérez-García, Pedro Seoane, Juan A. G. Ranea
Pubblicato in: International Journal of Molecular Sciences, Numero 26, 2025, ISSN 1422-0067
Editore: MDPI AG
DOI: 10.3390/IJMS26199376

CoMentG: comprehensive retrieval of generic relationships between biomedical concepts from the scientific literature

Autori: Jorge Novoa, Javier López-Ibáñez, Mónica Chagoyen, Juan A G Ranea, Florencio Pazos
Pubblicato in: Database, Numero 2024, 2024, ISSN 1758-0463
Editore: Oxford University Press (OUP)
DOI: 10.1093/DATABASE/BAAE025

Developmental effect of RASopathy mutations on neuronal network activity on a chip

Autori: Eva-Maria Weiss, Debarpan Guhathakurta, Aneta Petrušková, Verena Hundrup, Martin Zenker, Anna Fejtová
Pubblicato in: Frontiers in Cellular Neuroscience, Numero 18, 2024, ISSN 1662-5102
Editore: Frontiers Media SA
DOI: 10.3389/fncel.2024.1388409

Rasopathy-Associated Mutation Ptpn11D61Y has Age-Dependent Effect on Synaptic Vesicle Recycling

Autori: Debarpan Guhathakurta, Franziska Selzam, Aneta Petrušková, Eva-Maria Weiss, Enes Yağız Akdaş, Carolina Montenegro-Venegas, Martin Zenker, Anna Fejtová
Pubblicato in: Cellular and Molecular Neurobiology, Numero 44, 2024, ISSN 0272-4340
Editore: Springer Science and Business Media LLC
DOI: 10.1007/s10571-024-01505-1

Immunoliposomes – a new therapeutic option to treat SynGAP1-associated epilepsy

Autori: K. Wienken, A. Mazur, B. Gericke, S. Petralla, L. Wagner, O. Seifert, R.E. Kontermann, G. Fricker
Pubblicato in: European Journal of Pharmaceutics and Biopharmaceutics, Numero 214, 2025, ISSN 0939-6411
Editore: Elsevier BV
DOI: 10.1016/J.EJPB.2025.114799

Transcriptomic analysis identifies dysregulated pathways and therapeutic targets in PMM2-CDG

Autori: Diana Gallego, Mercedes Serrano, Jose Cordoba-Caballero, Alejandra Gámez, Pedro Seoane, James R. Perkins, Juan A.G. Ranea, Belén Pérez
Pubblicato in: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, Numero 1870, 2024, ISSN 0925-4439
Editore: Elsevier BV
DOI: 10.1016/j.bbadis.2024.167163

Integrating differential expression, co-expression and gene network analysis for the identification of common genes associated with tumor angiogenesis deregulation

Autori: Beatriz Monterde, Elena Rojano, José Córdoba-Caballero, Pedro Seoane, James R. Perkins, Miguel Ángel Medina, Juan A.G. Ranea
Pubblicato in: Journal of Biomedical Informatics, Numero 144, 2024, ISSN 1532-0464
Editore: Elsevier BV
DOI: 10.1016/J.JBI.2023.104421

Cytokine profiling and transcriptomics in mononuclear cells define immune variants in Meniere Disease

Autori: Marisa Flook; Elena Rojano; Alvaro Gallego-Martinez; Alba Escalera-Balsera; Patricia Perez-Carpena; M. del Carmen Moleon; Rocio Gonzalez-Aguado; Victoria Rivero de Jesus; Emilio Domínguez-Durán; Lidia Frejo; Juan A. G. Ranea; Jose Antonio Lopez-Escamez
Pubblicato in: Genes and Immunity, Numero 25, 2024, ISSN 1476-5470
Editore: Nature
DOI: 10.1038/s41435-024-00260-z

Scientific Reports

Autori: Yannik Andrasch; Moses Munene Ireri; Jonas Gander; Ann-Engelke Sabrina Timm; Saravanakkumar Chennappan; Miray Fidan; Melanie Engler; Ion Cristian Cirstea
Pubblicato in: Scientific Reports, 2025, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/S41598-025-91592-X