Gene overdosage and comorbidities during the early lifetime in Down Syndrome

Resultado final

Report on family associations and layman event

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

Publicaciones

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

Autores: 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
Publicado en: Vaccines, Edición 4, 2022, ISSN 2076-393X
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/vaccines10040530

Neurodevelopmental disorders: 2023 update

Autores: Paulina Carriba; Nicola Lorenzón; Mara Dierssen
Publicado en: Free Neuropathology, Vol 4 (2023), Edición 23, 2023, ISSN 2699-4445
Editor: 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

Autores: Ilario De TomaI Cesar SierraI Mara Dierssen
Publicado en: PLOS Computational Biology, Edición 17(9), 2021, ISSN 1553-734X
Editor: 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

Autores: Helin Atas-Ozcan, Véronique Brault, Arnaud Duchon, and Yann Herault
Publicado en: Pubmed, Edición 11, 2021, Página(s) 1833, ISSN 2073-4425
Editor: 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

Autores: R Asaad Baksh, Sarah E Pape, Li F Chan, Aisha A Aslam, Martin C Gulliford, Andre Strydom
Publicado en: The Lancet Public Health, Edición 8, 2023, Página(s) e453-e462, ISSN 2468-2667
Editor: 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.

Autores: 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,
Publicado en: Elsevier, Edición 1, 2021, ISSN 0346-251X
Editor: 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

Autores: Mattias F. Lindberg, Laurent Meijer
Publicado en: International Journal of Molecular Sciences, Edición 22/11, 2021, Página(s) 6047, ISSN 1422-0067
Editor: 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

Autores: 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
Publicado en: Journal of Global Health, Edición 4, 2022, ISSN 2047-2978
Editor: 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

Autores: I. De Toma, M. Ortega, S. Catuara-Solarz, C. Sierra, E. Sabidó, M. Dierssen
Publicado en: Scientific Reports, Edición 10/1, 2020, ISSN 2045-2322
Editor: Nature Publishing Group
DOI: 10.1038/s41598-020-72625-z

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

Autores: Mara Dierssen, Marta Fructuoso, María Martínez de Lagrán, Marzia Perluigi, Eugenio Barone
Publicado en: Frontiers in Neuroscience, Edición 14, 2020, ISSN 1662-453X
Editor: 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

Autores: 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
Publicado en: Human Molecular Genetics, Edición 30/9, 2021, Página(s) 771-788, ISSN 0964-6906
Editor: 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.

Autores: B. Souchet, M. Audrain, Y. Gu, M. F. Lindberg, N. S. Orefice, E. Rey, N. Cartier, N. Janel, L. Meijer & Jérôme Braudeau
Publicado en: Journal of Prevention of Alzeihmer disease, Edición Vol 9, 2022, Página(s) 480–490, ISSN 1944-4036
Editor: 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

Autores: 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
Publicado en: Alzheimer's & Dementia, Edición 19, 2023, Página(s) 5129-5137, ISSN 1552-5260
Editor: 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

Autores: 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,
Publicado en: Microrganisms, Edición 14(11), 2021, ISSN 2076-2607
Editor: MDPI
DOI: 10.3390/ph14111086

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

Autores: 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
Publicado en: Journal of Clinical Medicine, Edición 3, 2021, ISSN 1520-4804
Editor: 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

Autores: Aisha Aslam; Asaad Baksh; Sarah Pape; Go-DS Consortium; Andre Strydom; Martin Gulliford; Li Chan
Publicado en: Diabetes Care 45, (2022), Edición 9, 2022, Página(s) 2892–2899, ISSN 0149-5992
Editor: American Diabetes Association
DOI: 10.2337/dc22-0482

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

Autores: Maria del Mar Muñiz Moreno; Claire Gavériaux-Ruff; Yann Herault
Publicado en: Crossref, Edición 4, 2023, ISSN 1471-2105
Editor: 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

Autores: 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
Publicado en: "PLoS Genetics, Public Library of Science, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩", Edición 5, 2021, ISSN 1932-6203
Editor: Public Library of Science
DOI: 10.1101/2021.05.01.442242

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

Autores: D'Agostino, Daniele; Lio, Pietro; Aldinucci, Marco; Merelli, Ivan
Publicado en: BMC Bioinformatics, Edición 6, 2021, ISSN 1471-2105
Editor: BioMed Central
DOI: 10.17863/cam.68698

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

Autores: Maria Martinez de Lagran; Aleix Elizalde‐Torrent; Roger Paredes; Bonaventura Clotet; Mara Dierssen
Publicado en: Crossref, Edición 10, 2022, Página(s) 4210-4215, ISSN 2940-1798
Editor: Epub
DOI: 10.21203/rs.3.rs-1158032/v1

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

Autores: Daniela Kaspar, Sieglinde Hastreiter, Martin Irmler, Martin Hrabé de Angelis, Johannes Beckers
Publicado en: Mammalian Genome, Edición 31/5-6, 2020, Página(s) 119-133, ISSN 0938-8990
Editor: 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

Autores: Cesar Sierra1, Ilario De Toma2, Lorenzo Lo Cascio1, Esteban Vegas3 and Mara Dierssen1,4,5*
Publicado en: Frontiers in Behavioral Neurosciences, Edición Volume 15, 2021, ISSN 1662-5153
Editor: 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

Autores: R. Asaad Baksh; Andre Strydom; Sarah E. Pape; Li F. Chan; Martin C. Gulliford
Publicado en: Crossref, Edición 1, 2022, Página(s) 2009–2015, ISSN 0967-0912
Editor: Institute of Materials
DOI: 10.1007/s11606-022-07420-9

Towards Robust Metrics for Concept Representation Evaluation

Autores: Mateo Espinosa Zarlenga, Pietro Barbiero, Zohreh Shams, Dmitry Kazhdan, Umang Bhatt, Adrian Weller, Mateja Jamnik
Publicado en: Proceedings of the AAAI Conference on Artificial Intelligence, Edición 37, 2023, Página(s) 11791-11799, ISSN 2374-3468
Editor: arxiv
DOI: 10.1609/aaai.v37i10.26392

Logic Explained Networks

Autores: Gabriele Ciravegna, Pietro Barbiero, Francesco Giannini, Marco Gori, Pietro Liò, Marco Maggini, Stefano Melacci
Publicado en: Artificial Intelligence, Edición 314, 2024, Página(s) 103822, ISSN 0004-3702
Editor: Elsevier BV
DOI: 10.1016/j.artint.2022.103822

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

Autores: 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
Publicado en: Front. Mol. Neurosci. Sec. Molecular Signalling and Pathways, Edición 5, 2021, ISSN 1664-3224
Editor: Frontiers
DOI: 10.3389/fnmol.2021.664912

Rethinking Intellectual Disability from Neuro- to Astro-Pathology

Autores: Álvaro Fernández-Blanco, Mara Dierssen
Publicado en: International Journal of Molecular Sciences, Edición 21/23, 2020, Página(s) 9039, ISSN 1422-0067
Editor: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21239039

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

Autores: 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
Publicado en: https://hal.archives-ouvertes.fr/hal-03891136, Edición 7, 2022, ISSN 2046-6390
Editor: 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

Autores: M. Martinez De Lagran, N. Lorenzon, M. Dierssen
Publicado en: Neuroscience Applied, Edición 2, 2024, Página(s) 102890, ISSN 2772-4085
Editor: Cross reg
DOI: 10.1016/j.nsa.2023.102890

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

Autores: Álvaro Fernández-Blanco; Cèsar Sierra; Clara Tejido; Mara Dierssen
Publicado en: Crossref, Edición 17, 2024, ISSN 2310-287X
Editor: preprints
DOI: 10.20944/preprints202402.0220.v1

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

Autores: Álvaro Fernández-Blanco; Alfonsa Zamora-Moratalla; Miguel Sabariego-Navarro; Mara Dierssen
Publicado en: bioRxiv, Edición 14, 2023, ISSN 2692-8205
Editor: 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.

Autores: R. Asaad Baksh; Sarah E Pape; James Smith; Andre Strydom
Publicado en: BMJ Open, Edición 4, 2021, ISSN 2044-6055
Editor: BMJ Publishing Group
DOI: 10.1136/bmjopen-2021-052482

Interpretable Neural-Symbolic Concept Reasoning

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

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

Autores: 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
Publicado en: Journal of Clinical Medicine, Edición 3, 2021, ISSN 2077-0383
Editor: MDPI
DOI: 10.3390/jcm10215125

The Computational Patient has Diabetes and a COVID

Autores: Pietro Barbiero; Pietro Liò
Publicado en: Edición 2, 2021
Editor: ArxiV
DOI: 10.1101/2020.06.10.20127183

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