Gene overdosage and comorbidities during the early lifetime in Down Syndrome

Rezultaty

Report on family associations and layman event

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

Publikacje

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

Autorzy: 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
Opublikowane w: Vaccines, Numer 4, 2022, ISSN 2076-393X
Wydawca: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/vaccines10040530

Neurodevelopmental disorders: 2023 update

Autorzy: Paulina Carriba; Nicola Lorenzón; Mara Dierssen
Opublikowane w: Free Neuropathology, Vol 4 (2023), Numer 23, 2023, ISSN 2699-4445
Wydawca: 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

Autorzy: Ilario De TomaI Cesar SierraI Mara Dierssen
Opublikowane w: PLOS Computational Biology, Numer 17(9), 2021, ISSN 1553-734X
Wydawca: 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

Autorzy: Helin Atas-Ozcan, Véronique Brault, Arnaud Duchon, and Yann Herault
Opublikowane w: Pubmed, Numer 11, 2021, Strona(/y) 1833, ISSN 2073-4425
Wydawca: 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

Autorzy: R Asaad Baksh, Sarah E Pape, Li F Chan, Aisha A Aslam, Martin C Gulliford, Andre Strydom
Opublikowane w: The Lancet Public Health, Numer 8, 2023, Strona(/y) e453-e462, ISSN 2468-2667
Wydawca: 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.

Autorzy: 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,
Opublikowane w: Elsevier, Numer 1, 2021, ISSN 0346-251X
Wydawca: 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

Autorzy: Mattias F. Lindberg, Laurent Meijer
Opublikowane w: International Journal of Molecular Sciences, Numer 22/11, 2021, Strona(/y) 6047, ISSN 1422-0067
Wydawca: 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

Autorzy: 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
Opublikowane w: Journal of Global Health, Numer 4, 2022, ISSN 2047-2978
Wydawca: 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

Autorzy: I. De Toma, M. Ortega, S. Catuara-Solarz, C. Sierra, E. Sabidó, M. Dierssen
Opublikowane w: Scientific Reports, Numer 10/1, 2020, ISSN 2045-2322
Wydawca: Nature Publishing Group
DOI: 10.1038/s41598-020-72625-z

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

Autorzy: Mara Dierssen, Marta Fructuoso, María Martínez de Lagrán, Marzia Perluigi, Eugenio Barone
Opublikowane w: Frontiers in Neuroscience, Numer 14, 2020, ISSN 1662-453X
Wydawca: 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

Autorzy: 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
Opublikowane w: Human Molecular Genetics, Numer 30/9, 2021, Strona(/y) 771-788, ISSN 0964-6906
Wydawca: 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.

Autorzy: B. Souchet, M. Audrain, Y. Gu, M. F. Lindberg, N. S. Orefice, E. Rey, N. Cartier, N. Janel, L. Meijer & Jérôme Braudeau
Opublikowane w: Journal of Prevention of Alzeihmer disease, Numer Vol 9, 2022, Strona(/y) 480–490, ISSN 1944-4036
Wydawca: 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

Autorzy: 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
Opublikowane w: Alzheimer's & Dementia, Numer 19, 2023, Strona(/y) 5129-5137, ISSN 1552-5260
Wydawca: 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

Autorzy: 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,
Opublikowane w: Microrganisms, Numer 14(11), 2021, ISSN 2076-2607
Wydawca: MDPI
DOI: 10.3390/ph14111086

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

Autorzy: 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
Opublikowane w: Journal of Clinical Medicine, Numer 3, 2021, ISSN 1520-4804
Wydawca: 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

Autorzy: Aisha Aslam; Asaad Baksh; Sarah Pape; Go-DS Consortium; Andre Strydom; Martin Gulliford; Li Chan
Opublikowane w: Diabetes Care 45, (2022), Numer 9, 2022, Strona(/y) 2892–2899, ISSN 0149-5992
Wydawca: American Diabetes Association
DOI: 10.2337/dc22-0482

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

Autorzy: Maria del Mar Muñiz Moreno; Claire Gavériaux-Ruff; Yann Herault
Opublikowane w: Crossref, Numer 4, 2023, ISSN 1471-2105
Wydawca: 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

Autorzy: 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
Opublikowane w: "PLoS Genetics, Public Library of Science, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩", Numer 5, 2021, ISSN 1932-6203
Wydawca: Public Library of Science
DOI: 10.1101/2021.05.01.442242

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

Autorzy: D'Agostino, Daniele; Lio, Pietro; Aldinucci, Marco; Merelli, Ivan
Opublikowane w: BMC Bioinformatics, Numer 6, 2021, ISSN 1471-2105
Wydawca: BioMed Central
DOI: 10.17863/cam.68698

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

Autorzy: Maria Martinez de Lagran; Aleix Elizalde‐Torrent; Roger Paredes; Bonaventura Clotet; Mara Dierssen
Opublikowane w: Crossref, Numer 10, 2022, Strona(/y) 4210-4215, ISSN 2940-1798
Wydawca: Epub
DOI: 10.21203/rs.3.rs-1158032/v1

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

Autorzy: Daniela Kaspar, Sieglinde Hastreiter, Martin Irmler, Martin Hrabé de Angelis, Johannes Beckers
Opublikowane w: Mammalian Genome, Numer 31/5-6, 2020, Strona(/y) 119-133, ISSN 0938-8990
Wydawca: 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

Autorzy: Cesar Sierra1, Ilario De Toma2, Lorenzo Lo Cascio1, Esteban Vegas3 and Mara Dierssen1,4,5*
Opublikowane w: Frontiers in Behavioral Neurosciences, Numer Volume 15, 2021, ISSN 1662-5153
Wydawca: 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

Autorzy: R. Asaad Baksh; Andre Strydom; Sarah E. Pape; Li F. Chan; Martin C. Gulliford
Opublikowane w: Crossref, Numer 1, 2022, Strona(/y) 2009–2015, ISSN 0967-0912
Wydawca: Institute of Materials
DOI: 10.1007/s11606-022-07420-9

Towards Robust Metrics for Concept Representation Evaluation

Autorzy: Mateo Espinosa Zarlenga, Pietro Barbiero, Zohreh Shams, Dmitry Kazhdan, Umang Bhatt, Adrian Weller, Mateja Jamnik
Opublikowane w: Proceedings of the AAAI Conference on Artificial Intelligence, Numer 37, 2023, Strona(/y) 11791-11799, ISSN 2374-3468
Wydawca: arxiv
DOI: 10.1609/aaai.v37i10.26392

Logic Explained Networks

Autorzy: Gabriele Ciravegna, Pietro Barbiero, Francesco Giannini, Marco Gori, Pietro Liò, Marco Maggini, Stefano Melacci
Opublikowane w: Artificial Intelligence, Numer 314, 2024, Strona(/y) 103822, ISSN 0004-3702
Wydawca: Elsevier BV
DOI: 10.1016/j.artint.2022.103822

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

Autorzy: 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
Opublikowane w: Front. Mol. Neurosci. Sec. Molecular Signalling and Pathways, Numer 5, 2021, ISSN 1664-3224
Wydawca: Frontiers
DOI: 10.3389/fnmol.2021.664912

Rethinking Intellectual Disability from Neuro- to Astro-Pathology

Autorzy: Álvaro Fernández-Blanco, Mara Dierssen
Opublikowane w: International Journal of Molecular Sciences, Numer 21/23, 2020, Strona(/y) 9039, ISSN 1422-0067
Wydawca: Multidisciplinary Digital Publishing Institute (MDPI)
DOI: 10.3390/ijms21239039

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

Autorzy: 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
Opublikowane w: https://hal.archives-ouvertes.fr/hal-03891136, Numer 7, 2022, ISSN 2046-6390
Wydawca: 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

Autorzy: M. Martinez De Lagran, N. Lorenzon, M. Dierssen
Opublikowane w: Neuroscience Applied, Numer 2, 2024, Strona(/y) 102890, ISSN 2772-4085
Wydawca: Cross reg
DOI: 10.1016/j.nsa.2023.102890

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

Autorzy: Álvaro Fernández-Blanco; Cèsar Sierra; Clara Tejido; Mara Dierssen
Opublikowane w: Crossref, Numer 17, 2024, ISSN 2310-287X
Wydawca: preprints
DOI: 10.20944/preprints202402.0220.v1

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

Autorzy: Álvaro Fernández-Blanco; Alfonsa Zamora-Moratalla; Miguel Sabariego-Navarro; Mara Dierssen
Opublikowane w: bioRxiv, Numer 14, 2023, ISSN 2692-8205
Wydawca: 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.

Autorzy: R. Asaad Baksh; Sarah E Pape; James Smith; Andre Strydom
Opublikowane w: BMJ Open, Numer 4, 2021, ISSN 2044-6055
Wydawca: BMJ Publishing Group
DOI: 10.1136/bmjopen-2021-052482

Interpretable Neural-Symbolic Concept Reasoning

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

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

Autorzy: 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
Opublikowane w: Journal of Clinical Medicine, Numer 3, 2021, ISSN 2077-0383
Wydawca: MDPI
DOI: 10.3390/jcm10215125

The Computational Patient has Diabetes and a COVID

Autorzy: Pietro Barbiero; Pietro Liò
Opublikowane w: Numer 2, 2021
Wydawca: ArxiV
DOI: 10.1101/2020.06.10.20127183

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