Gene overdosage and comorbidities during the early lifetime in Down Syndrome

Risultati finali

Report on family associations and layman event

Project leaflet for individuals with DS, their families, clinicians and scientists and professional templates

Pubblicazioni

COVID-19 vaccination of individuals with Down syndrome-data from the trisomy 21 Research Society Survey on Safety, Efficacy, and Factors Associated with the Decision to be Vaccinated

Autori: Alberto Costa; Ana Claudia Brandao; Diego Real de Asua; Andre Strydom; Yona Lunsky; Dr. Sujay Ghosh; Brian Chicoine; Giuseppina Sgandurra; Angelo Carfì; Johannes Levin; Anke Hüls; Monica Lakhanpaul
Pubblicato in: Vaccines, Numero 4, 2022, ISSN 2076-393X
Editore: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/vaccines10040530

Neurodevelopmental disorders: 2023 update

Autori: Paulina Carriba; Nicola Lorenzón; Mara Dierssen
Pubblicato in: Free Neuropathology, Vol 4 (2023), Numero 23, 2023, ISSN 2699-4445
Editore: Free neuropathology
DOI: 10.17879/freeneuropathology-2023-4701

Meta-analysis of transcriptomic data reveals clusters of consistently deregulated gene and disease ontologies in Down syndrome

Autori: Ilario De TomaI Cesar SierraI Mara Dierssen
Pubblicato in: PLOS Computational Biology, Numero 17(9), 2021, ISSN 1553-734X
Editore: Public Library of Science
DOI: 10.1371/journal.pcbi.1009317

Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome

Autori: Helin Atas-Ozcan, Véronique Brault, Arnaud Duchon, and Yann Herault
Pubblicato in: Pubmed, Numero 11, 2021, Pagina/e 1833, ISSN 2073-4425
Editore: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/genes12111833

Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records

Autori: R Asaad Baksh, Sarah E Pape, Li F Chan, Aisha A Aslam, Martin C Gulliford, Andre Strydom
Pubblicato in: The Lancet Public Health, Numero 8, 2023, Pagina/e e453-e462, ISSN 2468-2667
Editore: Lancet
DOI: 10.1016/s2468-2667(23)00057-9

Medical vulnerability of individuals with Down syndrome to severe COVID-19-data from the Trisomy 21 Research Society and the UK ISARIC4C survey.

Autori: Hüls, Anke; Costa, Alberto C. S.; Dierssen, Mara; Baksh, R. Asaad; Bargagna, Stefania; Baumer, Nicole T.; Brandão, Ana Claudia; Carfi, Angelo; Carmona Iragui, María; Chicoine, Brian; Ghosh, Sujay; Lakhanpaul, Monica; Manso, Coral; Mayer, Miguel-Angel; Ortega, Maria del Carmen; de Asua, Diego Real; Rebillat, Anne-Sophie; Russell, Lauren Ashley; Sgandurra, Giuseppina; Valentini, Diletta; Sherman,
Pubblicato in: Elsevier, Numero 1, 2021, ISSN 0346-251X
Editore: Pergamon Press Ltd.
DOI: 10.1016/j.eclinm.2021.100769

Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinases (DYRKs) and cdc2-Like Kinases (CLKs) in Human Disease, an Overview

Autori: Mattias F. Lindberg, Laurent Meijer
Pubblicato in: International Journal of Molecular Sciences, Numero 22/11, 2021, Pagina/e 6047, ISSN 1422-0067
Editore: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms22116047

Differences in clinical presentation, severity, and treatment of COVID-19 among individuals with Down syndrome from India and high-income countries: Data from the Trisomy 21 Research Society survey

Autori: Pinku, Halder; Hüls, Anke; Feany, Patrick T.; Baumer, Nicole; Dierssen, Mara; Bargagna, Stefania; Costa, Alberto C.S.; Chicoine, Brian Allen; Rebillat, Anne-Sophie; Sgandurra, Giuseppina; Valentini, Diletta; Rohrer, R. Tilman; Levin, Johannes; Lakhanpaul, Monica; Carfì, Angelo; Sherman, Stephanie L.; Strydom, Andre; Ghosh, Sujay; Trisomy Research Society Covid-Initiative Study Group
Pubblicato in: Journal of Global Health, Numero 4, 2022, ISSN 2047-2978
Editore: Journal of Global Health
DOI: 10.7189/jogh.12.05035

Re-establishment of the epigenetic state and rescue of kinome deregulation in Ts65Dn mice upon treatment with green tea extract and environmental enrichment

Autori: I. De Toma, M. Ortega, S. Catuara-Solarz, C. Sierra, E. Sabidó, M. Dierssen
Pubblicato in: Scientific Reports, Numero 10/1, 2020, ISSN 2045-2322
Editore: Nature Publishing Group
DOI: 10.1038/s41598-020-72625-z

Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions

Autori: Mara Dierssen, Marta Fructuoso, María Martínez de Lagrán, Marzia Perluigi, Eugenio Barone
Pubblicato in: Frontiers in Neuroscience, Numero 14, 2020, ISSN 1662-453X
Editore: Froniers in Neuroscience
DOI: 10.3389/fnins.2020.00670

Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models

Autori: Arnaud Duchon, Maria del Mar Muniz Moreno, Sandra Martin Lorenzo, Marcia Priscilla Silva de Souza, Claire Chevalier, Valérie Nalesso, Hamid Meziane, Paulo Loureiro de Sousa, Vincent Noblet, Jean-Paul Armspach, Veronique Brault, Yann Herault
Pubblicato in: Human Molecular Genetics, Numero 30/9, 2021, Pagina/e 771-788, ISSN 0964-6906
Editore: Oxford University Press
DOI: 10.1093/hmg/ddab012

Cerebral phospho-tau acts synergistically with soluble Aβ42 leading to Mild Cognitive Impairment in AAV-AD rats.

Autori: B. Souchet, M. Audrain, Y. Gu, M. F. Lindberg, N. S. Orefice, E. Rey, N. Cartier, N. Janel, L. Meijer & Jérôme Braudeau
Pubblicato in: Journal of Prevention of Alzeihmer disease, Numero Vol 9, 2022, Pagina/e 480–490, ISSN 1944-4036
Editore: Springer Link
DOI: 10.14283/jpad.2022.18

Exploring semantic verbal fluency patterns and their relationship to age and Alzheimer's disease in adults with Down syndrome

Autori: Farah Mgaieth, R. Asaad Baksh, Carla M. Startin, Sarah Hamburg, Rosalyn Hithersay, Sarah Pape, Henrik Zetterberg, Nicholas J. Ashton, Miren Tamayo‐Elizalde, Fedal Saini, Mina Idris, The LonDownS Consortium, Andre Strydom
Pubblicato in: Alzheimer's & Dementia, Numero 19, 2023, Pagina/e 5129-5137, ISSN 1552-5260
Editore: Elsevier BV
DOI: 10.1002/alz.13097

Design and Microwave Synthesis of New (5Z) 5-Arylidene-2-thioxo-1,3-thiazolinidin-4-one and (5Z) 2-Amino-5-arylidene-1,3-thiazol-4(5H)-one as New Inhibitors of Protein Kinase DYRK1A

Autori: Khadidja Bourahla 1ORCID,Solène Guihéneuf 1,Emmanuelle Limanton 1,2ORCID,Ludovic Paquin 1,2,Rémy Le Guével 3,Thierry Charlier 3,4,Mustapha Rahmouni 5,Emilie Durieu 6,7,Olivier Lozach 7ORCID,François Carreaux 1,Laurent Meijer 6 andJean-Pierre Bazureau 1,
Pubblicato in: Microrganisms, Numero 14(11), 2021, ISSN 2076-2607
Editore: MDPI
DOI: 10.3390/ph14111086

Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome

Autori: Diego Real de Asua; Miguel A. Mayer; María del Carmen Ortega; Jose M. Borrel; Teresa de Jesús Bermejo; Domingo González-Lamuño; Coral Manso; Fernando Moldenhauer; María Carmona-Iragui; Anke Hüls; Stephanie L. Sherman; Andre Strydom; Rafael de la Torre; Mara Dierssen
Pubblicato in: Journal of Clinical Medicine, Numero 3, 2021, ISSN 1520-4804
Editore: Journal of Clinical Medicine
DOI: 10.3390/jcm10163748

Diabetes and Obesity in Down Syndrome Across the Lifespan: A Retrospective Cohort Study Using U.K. Electronic Health Records

Autori: Aisha Aslam; Asaad Baksh; Sarah Pape; Go-DS Consortium; Andre Strydom; Martin Gulliford; Li Chan
Pubblicato in: Diabetes Care 45, (2022), Numero 9, 2022, Pagina/e 2892–2899, ISSN 0149-5992
Editore: American Diabetes Association
DOI: 10.2337/dc22-0482

Gdaphen, R pipeline to identify the most important qualitative and quantitative predictor variables from phenotypic data

Autori: Maria del Mar Muñiz Moreno; Claire Gavériaux-Ruff; Yann Herault
Pubblicato in: Crossref, Numero 4, 2023, ISSN 1471-2105
Editore: BioMed Central
DOI: 10.1186/s12859-022-05111-0

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

Autori: Véronique Brault; Thu Lan Nguyen; Javier Flores-Gutiérrez; Giovanni Iacono; Marie-Christine Birling; Valérie Lalanne; Hamid Meziane; Antigoni Manousopoulou; Guillaume Pavlovic; Loic Lindner; Mohammed Selloum; Tania Sorg; Eugene Yu; Eugene Yu; Spiros D. Garbis; Yann Herault
Pubblicato in: "PLoS Genetics, Public Library of Science, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩", Numero 5, 2021, ISSN 1932-6203
Editore: Public Library of Science
DOI: 10.1101/2021.05.01.442242

Advantages of using graph databases to explore chromatin conformation capture experiments.

Autori: D'Agostino, Daniele; Lio, Pietro; Aldinucci, Marco; Merelli, Ivan
Pubblicato in: BMC Bioinformatics, Numero 6, 2021, ISSN 1471-2105
Editore: BioMed Central
DOI: 10.17863/cam.68698

Lamivudine, a Reverse Transcriptase Inhibitor, Rescues Cognitive Deficits in a Mouse Model of Down Syndrome

Autori: Maria Martinez de Lagran; Aleix Elizalde‐Torrent; Roger Paredes; Bonaventura Clotet; Mara Dierssen
Pubblicato in: Crossref, Numero 10, 2022, Pagina/e 4210-4215, ISSN 2940-1798
Editore: Epub
DOI: 10.21203/rs.3.rs-1158032/v1

Nutrition and its role in epigenetic inheritance of obesity and diabetes across generations

Autori: Daniela Kaspar, Sieglinde Hastreiter, Martin Irmler, Martin Hrabé de Angelis, Johannes Beckers
Pubblicato in: Mammalian Genome, Numero 31/5-6, 2020, Pagina/e 119-133, ISSN 0938-8990
Editore: Springer Verlag
DOI: 10.1007/s00335-020-09839-z

Social Factors Influence Behavior in the Novel Object Recognition Task in a Mouse Model of Down Syndrome

Autori: Cesar Sierra1, Ilario De Toma2, Lorenzo Lo Cascio1, Esteban Vegas3 and Mara Dierssen1,4,5*
Pubblicato in: Frontiers in Behavioral Neurosciences, Numero Volume 15, 2021, ISSN 1662-5153
Editore: Frontiers Research Foundation
DOI: 10.3389/fnbeh.2021.772734

Susceptibility to COVID-19 Diagnosis in People with Down Syndrome Compared to the General Population: Matched-Cohort Study Using Primary Care Electronic Records in the UK

Autori: R. Asaad Baksh; Andre Strydom; Sarah E. Pape; Li F. Chan; Martin C. Gulliford
Pubblicato in: Crossref, Numero 1, 2022, Pagina/e 2009–2015, ISSN 0967-0912
Editore: Institute of Materials
DOI: 10.1007/s11606-022-07420-9

Towards Robust Metrics for Concept Representation Evaluation

Autori: Mateo Espinosa Zarlenga, Pietro Barbiero, Zohreh Shams, Dmitry Kazhdan, Umang Bhatt, Adrian Weller, Mateja Jamnik
Pubblicato in: Proceedings of the AAAI Conference on Artificial Intelligence, Numero 37, 2023, Pagina/e 11791-11799, ISSN 2374-3468
Editore: arxiv
DOI: 10.1609/aaai.v37i10.26392

Logic Explained Networks

Autori: Gabriele Ciravegna, Pietro Barbiero, Francesco Giannini, Marco Gori, Pietro Liò, Marco Maggini, Stefano Melacci
Pubblicato in: Artificial Intelligence, Numero 314, 2024, Pagina/e 103822, ISSN 0004-3702
Editore: Elsevier BV
DOI: 10.1016/j.artint.2022.103822

Environmental Enrichment Induces Epigenomic and Genome Organization Changes Relevant for Cognition.

Autori: Sergio Espeso-Gil; Sergio Espeso-Gil; Sergio Espeso-Gil; Aliaksei Z. Holik; Sarah Bonnin; Shalu Jhanwar; Shalu Jhanwar; Sandhya Chandrasekaran; Sandhya Chandrasekaran; Roger Pique-Regi; Júlia Albaigès-Ràfols; Júlia Albaigès-Ràfols; Michael Maher; Michael Maher; Michael Maher; Jon Permanyer; Manuel Irimia; Manuel Irimia; Manuel Irimia; Marc R. Friedländer; Meritxell Pons-Espinal; Meritxell P
Pubblicato in: Front. Mol. Neurosci. Sec. Molecular Signalling and Pathways, Numero 5, 2021, ISSN 1664-3224
Editore: Frontiers
DOI: 10.3389/fnmol.2021.664912

Rethinking Intellectual Disability from Neuro- to Astro-Pathology

Autori: Álvaro Fernández-Blanco, Mara Dierssen
Pubblicato in: International Journal of Molecular Sciences, Numero 21/23, 2020, Pagina/e 9039, ISSN 1422-0067
Editore: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21239039

Ts66Yah, a mouse model of Down syndrome with improved construct and face validity

Autori: Arnaud Duchon; Maria del Mar Muñiz Moreno; Claire Chevalier; Valérie Nalesso; Philippe Andre; Marta Fructuoso-Castellar; Mary Mondino; Chrystelle Po; Vincent Noblet; Marie-Christine Birling; Marie-Claude Potier; Yann Herault
Pubblicato in: https://hal.archives-ouvertes.fr/hal-03891136, Numero 7, 2022, ISSN 2046-6390
Editore: Disease Models and Mechanisms
DOI: 10.1242/dmm.049721

Impact of dual specificity tyrosine phosphorylation regulated kinase 1a overexpression on the comorbidity observed in individuals with down syndrome related to cognitive dysfunction and obesity

Autori: M. Martinez De Lagran, N. Lorenzon, M. Dierssen
Pubblicato in: Neuroscience Applied, Numero 2, 2024, Pagina/e 102890, ISSN 2772-4085
Editore: Cross reg
DOI: 10.1016/j.nsa.2023.102890

Beyond Quiescent and Active: Intermediate Microglial Transcriptomic States in a Mouse Model of Down Syndrome

Autori: Álvaro Fernández-Blanco; Cèsar Sierra; Clara Tejido; Mara Dierssen
Pubblicato in: Crossref, Numero 17, 2024, ISSN 2310-287X
Editore: preprints
DOI: 10.20944/preprints202402.0220.v1

Defective engram allocation contributes to impaired fear memory performance in Down syndrome

Autori: Álvaro Fernández-Blanco; Alfonsa Zamora-Moratalla; Miguel Sabariego-Navarro; Mara Dierssen
Pubblicato in: bioRxiv, Numero 14, 2023, ISSN 2692-8205
Editore: biorxiv
DOI: 10.1101/2023.01.11.523460

Understanding inequalities in COVID-19 outcomes following hospital admission for people with intellectual disability compared to the general population: a matched cohort study in the UK.

Autori: R. Asaad Baksh; Sarah E Pape; James Smith; Andre Strydom
Pubblicato in: BMJ Open, Numero 4, 2021, ISSN 2044-6055
Editore: BMJ Publishing Group
DOI: 10.1136/bmjopen-2021-052482

Interpretable Neural-Symbolic Concept Reasoning

Autori: Pietro Barbiero; Gabriele Ciravegna; Francesco Giannini; Mateo Espinosa Zarlenga; Lucie Charlotte Magister; Alberto Tonda; Pietro Lio; Frederic Precioso; Mateja Jamnik; Giuseppe Marra
Pubblicato in: "International Conference on Machine Learning (ICML), Jul 2023, Hawaii, United States. ⟨10.48550/arXiv.2304.14068⟩", Numero 22, 2023, ISSN 2331-8422
Editore: Arkiv
DOI: 10.17863/cam.107990

COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey.

Autori: David Emes; Anke Hüls; Nicole Bäumer; Mara Dierssen; Shiela Puri; Lauren Ashley Russell; Stephanie L. Sherman; Andre Strydom; Stefania Bargagna; Ana Cláudia Brandão; Alberto C.S. Costa; Patrick T Feany; Brian Chicoine; Sujay Ghosh; Anne-Sophie Rebillat; Giuseppina Sgandurra; Diletta Valentini; Tilman R. Rohrer; Johannes Levin; Johannes Levin; Monica Lakhanpaul
Pubblicato in: Journal of Clinical Medicine, Numero 3, 2021, ISSN 2077-0383
Editore: MDPI
DOI: 10.3390/jcm10215125

The Computational Patient has Diabetes and a COVID

Autori: Pietro Barbiero; Pietro Liò
Pubblicato in: Numero 2, 2021
Editore: ArxiV
DOI: 10.1101/2020.06.10.20127183

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