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GO-DS21 PUBLICATIONS (count: 49)
2020
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Barbiero P and Lio P. (2020)
The computational patient has diabetes and a Covid
medRxiv, Article number: 2020.06.10.20127183 PDF -
De Toma I, Ortega M, Catuara-Solarz S et al. (2020)
Re-establishment of the epigenetic state and rescue of kinome deregulation in Ts65Dn mice upon treatment with green tea extract and environmental enrichment
Sci Rep, 10: 16023 PDF -
Dierssen M, Fructuoso M, Martínez de Lagrán M et al. (2020)
Down Syndrome Is a Metabolic Disease: Altered Insulin Signaling Mediates Peripheral and Brain Dysfunctions
Front Neurosci, 14: 670 PDF -
Fernández-Blanco A and Dierssen M. (2020)
Rethinking Intellectual Disability from Neuro- to Astro-Pathology
Int J Mol Sci, 21(23): 9039 PDF -
Kaspar D, Hastreiter S, Irmler M et al. (2020)
Nutrition and its role in epigenetic inheritance of obesity and diabetes across generations
Mamm Genome, 31: pp. 119–133 PDF
2021
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Atas-Ozcan H, Brault V, Duchon A et al. (2021)
Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome
Genes 12(11): 1833 PDF -
Baksh RA, Pape SE, Smith J et al. (2021)
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
BMJ Open, 11: e052482 PDF -
Barch M, Cobb MM, Tokuno Z et al. (2021)
A deep learning approach to neurite prediction in high throughput fluorescence imaging
bioRxiv, Article number: 2021.04.23.441035 PDF -
Bourhala K, Guihéneuf S, Limanton E et al. (2021)
Design and microwave synthesis of new (5Z) 5-arylidene-2-thioxo-1,3-thiazoline-4-one and (5Z) 2-amino-5-arylidene-1,3-thiazol-4(5H)-one as new inhibitors of the protein kinase DYRK1A
Pharmaceuticals, 14(11): 1086 PDF -
Brault V, Nguyen TL, Flores-Gutiérrez J et al. (2021)
Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome
PLoS Genet, 17(9): e1009777 PDF -
D’Agostino D, Liò P, Aldinucci M et al. (2021)
Advantages of using graph databases to explore chromatin conformation capture experiments
BMC Bioinformatics, 22 (Suppl 2) PDF -
De Toma I, Sierra C, and Dierssen M. (2021)
Meta-analysis of transcriptomic data reveals clusters of consistently deregulated gene and disease ontologies in Down syndrome
PLoS Comput Biol, 17(9): e1009317 PDF -
Duchon A, del Mar Muniz Moreno M, Lorenzo SM et al. (2021)
Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models
Human Molecular Genetics, 30(9), pp. 771–788 PDF -
Emes D, Hüls A, Bäumer N et al. (2021)
COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey
J Clin Med, 10(21): 5125 PDF -
Espeso-Gil S, Holik AZ, Bonnin S et al. (2021)
Environmental Enrichment Induces Epigenomic and Genome Organization Changes Relevant for Cognition
Front Mol Neurosci,14: 664912 PDF -
Grabowicz IE, Herman-Iżycka J, Fructuoso M et al. (2021)
A new analytical pipeline reveals metatranscriptomic changes upon high-fat diet in a Down syndrome mouse model
bioRxiv, Article number: 2021.12.16.472765 PDF -
Hüls A, Costa ACS, Dierssen M et al. (2021)
Medical vulnerability of individuals with Down syndrome to severe COVID-19–data from the Trisomy 21 Research Society and the UK ISARIC4C survey
EClinical Medicine 33: 100769 PDF -
Lindberg M and Meijer L. (2021)
Dual-specificity, tyrosine phosphorylation-regulated kinases (DYRKs) and cdc2-like kinases (CLKs) in human disease, an overview
Int J Mol Sci, 22(11): 6047 PDF -
Montoliu-Gaya L, Strydom A, Blennow K et al. (2021)
Blood Biomarkers for Alzheimer’s Disease in Down Syndrome
J Clin Med, 10(16): 3639 PDF -
Pape SE, Baksh RA, Startin C et al. (2021)
The Association between Physical Activity and CAMDEX-DS Changes Prior to the Onset of Alzheimer’s Disease in Down Syndrome
J Clin Med, 10(9): 1882 PDF -
Real de Asua D, Mayer MA, del Carmen Ortega M et al. on behalf of the Spanish Trisomy 21 Research Society COVID-19 Taskforce (2021)
Comparison of COVID-19 and Non-COVID-19 Pneumonia in Down Syndrome
J Clin Med, 10(16): 3748 PDF -
Rujeedawa T, Carrillo Félez E, Clare ICH et al. (2021)
The Clinical and Neuropathological Features of Sporadic (Late-Onset) and Genetic Forms of Alzheimer’s Disease
J Clin Med, 10(19): 4582 PDF -
Sierra C, De Toma I, Cascio LL et al. (2021)
Social Factors Influence Behavior in the Novel Object Recognition Task in a Mouse Model of Down Syndrome
Front Behav Neurosci, 15: 772734 PDF
2022
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Arias A, Manubens-Gil L, and Dierssen M. (2022)
Fluorescent transgenic mouse models for whole-brain imaging in health and disease
Front Mol Neurosci 14: pp. 1662-5099 PDF -
Aslam A, Baksh A, Pape S et al. (2022)
Diabetes and Obesity in Down Syndrome Across the Lifespan: A Retrospective Cohort Study Using U.K. Electronic Health Records
Diabetes Care, 45(12): pp. 2892–2899 PDF -
Baksh RA, Strydom A, Pape SE et al. (2022)
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
J Gen Intern Med, 37: pp. 2009–2015 PDF -
Barbiero P, Ciravegna G, Giannini F et al. (2022)
Entropy-Based Logic Explanations of Neural Networks
Proceedings of the AAAI Conference on Artificial Intelligence, 36(6): pp. 6046-6054 PDF -
Duchon A, del Mar Muniz Moreno M, Chevalier C et al. (2022)
Ts66Yah, a mouse model of Down syndrome with improved construct and face validity
Dis Model Mech, 15(12): dmm049721 PDF -
Hüls A, Feany PT, Zisman SI et al. (2022)
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
Vaccines, 10(4): 530 PDF -
Martinez de Lagran M, Elizalde‐Torrent A, Paredes R et al. (2022)
Lamivudine, a Reverse Transcriptase Inhibitor, Rescues Cognitive Deficits in a Mouse Model of Down Syndrome
J Cell Mol Med, 26(15): pp. 4210-4215 PDF -
Pinku H, Hüls A, Feany PT et al. (2022)
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
J Global Health, 12: 05035 PDF -
Souchet B, Audrain M, Yu Y et al. (2022)
Cerebral phospho-tau acts synergistically with soluble Aβ42 leading to Mild Cognitive Impairment in AAV-AD rats
J Prev Alzheimers Dis 9: pp. 480–490 PDF
2023
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Baksh R, Pape S, Chan L et al. (2023)
Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: a population-based cohort study using electronic health records
The Lancet Public Health, pp. 2468-2667 PDF -
Barbiero P, Ciravegna G, Giannini F et al. (2023)
Interpretable Neural-Symbolic Concept Reasoning
Proceedings of the 40th International Conference on Machine Learning, PMLR 202: pp. 1801-1825 PDF -
Bishara D, Riaz S, Sauer J et al. (2023)
A tool for safer prescribing in vulnerable adults: the continuing development of the Medichec app and website
BJPsych Bulletin, 48(4): pp. 254-260 PDF -
Carriba P, Lorenzón N, and Dierssen M. (2023)
Neurodevelopmental disorders: 2023 update
Free Neuropathology 4: 8 PDF -
Ciravegna G, Barbiero P, Giannini F et al. (2023)
Logic Explained Networks
Artificial Intelligence 314, Article number: 103822 PDF -
Espinosa Zarlenga M, Barbiero P, Shams Z et al. (2023)
Towards Robust Metrics For Concept Representation Evaluation
Proceedings of the AAAI Conference on Artificial Intelligence, 37(10): pp. 11791-11799 PDF -
Fernández-Blanco A, Zamora-Moratalla A, Sabariego-Navarro M et al. (2023)
Defective engram allocation contributes to impaired fear memory performance in Down syndrome
bioRxiv, Article number: 2023.01.11.523460. PDF -
Fructuoso M, Fernández-Blanco Á, Gallego-Román A et al. (2023)
Exploring the Link between Hedonic Overeating and Prefrontal Cortex Dysfunction in the Ts65Dn Trisomic Mouse Model
Cell Mol Life Sci, 80(12): 370 PDF -
Lindberg M, Deau E, Arfwedson J et al. (2023)
Comparative efficacy and selectivity of pharmacological inhibitors of DYRK and CLK protein kinases
J Med Chem 66(6): pp. 4106-4130 PDF -
Martinez De Lagran M, Lorenzon N, and Dierssen M (2023)
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
Neuroscience Applied 2 (Supplement 2): 102890 PDF -
Mgaieth F, Baksh RA, Startin CM et al. (2023)
Exploring semantic verbal fluency patterns and their relationship to age and Alzheimer’s disease in adults with Down syndrome
Alzheimer's & Dementia 19: pp. 5129–5137. PDF -
Muñiz Moreno MM, Gavériaux-Ruff C & Herault Y. (2023)
Gdaphen, R pipeline to identify the most important qualitative and quantitative predictor variables from phenotypic data
BMC Bioinformatics 24: 28 PDF
2024
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Baksh RA, Strydom A, Carter B et al. (2024)
Toward the right treatment at the right time: Modeling the trajectory of cognitive decline to identify the earliest age of change in people with Alzheimer’s disease
Alzheimers Dement (Amst) 16(1): e12563 PDF -
Fernández-Blanco Á, Sierra C, Tejido C et al. (2024)
Beyond Quiescent and Active: Intermediate Microglial Transcriptomic States in a Mouse Model of Down Syndrome
Int J Mol Sci 25(6): 3289 PDF -
Sierra C, Sabariego-Navarro M, Fernández-Blanco A et al. (2024)
The lncRNA Snhg11, a new candidate contributing to neurogenesis, plasticity, and memory deficits in Down syndrome
Mol Psychiatry 29, pp. 2117–2134 PDF
2025
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Falgàs N, Maure-Blesa L, Ances B et al. (2025)
Genetically determined Alzheimer’s disease research advances: The Down Syndrome & Autosomal Dominant Alzheimer’s Disease 2024 Conference
Alzheimer's & Dementia; 21 (7): e70309 PDF -
Petersen ME, Flores‐Aguilar L, Head E et al. (2025)
Blood biomarkers in Down syndrome: Facilitating Alzheimer’s disease detection and monitoring
Alzheimer's & Dementia, 21 (1): e14364 PDF
BACKGROUND LITERATURE
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Turcot V et al. (2018)
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Nat Genet 50, 26-41 -
Karmiloff-Smith A et al. (2016)
The importance of understanding individual differences in Down syndrome
F1000Research, 5 (F1000 Faculty Rev): 389 -
Wilson B et al. (2015)
Care of Adults With Intellectual and Developmental Disabilities: Down Syndrome
FP Essent, 439: 20-5