{"id":"https://openalex.org/W7220839503","doi":"https://doi.org/10.3389/fcell.2026.1963992","title":"DYRK1A \u2013 a gene dose paradox","display_name":"DYRK1A \u2013 a gene dose paradox","publication_year":2026,"publication_date":"2026-10-07","ids":{"openalex":"https://openalex.org/W7220839503","doi":"https://doi.org/10.3389/fcell.2026.1963992","pmid":"https://pubmed.ncbi.nlm.nih.gov/42909264","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13683934"},"language":"en","primary_location":{"id":"doi:10.3389/fcell.2026.1963992","doi":"https://doi.org/10.3389/fcell.2026.1963992","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fcell.2026.1963992","pdf_url":"https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2026.1963992/pdf","source":{"id":"https://openalex.org/S2596924766","display_name":"Frontiers in Cell and Developmental Biology","issn_l":"2296-634X","issn":["2296-634X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Cell and Developmental Biology","raw_type":"journal-article"},"volume":null,"type":"review","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2026.1963992/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5039520374","display_name":"Ante Ple\u0107a\u0161","orcid":"https://orcid.org/0000-0001-5839-889X","observed_orcids":["https://orcid.org/0000-0001-5839-889X"]},"institutions":[{"id":"https://openalex.org/I181343428","display_name":"University of Zagreb","ror":"https://ror.org/00mv6sv71","country_code":"HR","type":"education","lineage":["https://openalex.org/I181343428"]}],"countries":["HR"],"is_corresponding":true,"raw_author_name":"Ante Ple\u0107a\u0161","raw_affiliation_strings":["Department of Anatomy, Histology and Embryology, Faculty of Veterinary Medicine, University of Zagreb"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anatomy, Histology and Embryology, Faculty of Veterinary Medicine, University of Zagreb","institution_ids":["https://openalex.org/I181343428"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070593485","display_name":"Gillian Gough","orcid":"https://orcid.org/0000-0001-5837-0176","observed_orcids":["https://orcid.org/0000-0001-5837-0176"]},"institutions":[{"id":"https://openalex.org/I165932596","display_name":"National University of Singapore","ror":"https://ror.org/01tgyzw49","country_code":"SG","type":"education","lineage":["https://openalex.org/I165932596"]}],"countries":["SG"],"is_corresponding":false,"raw_author_name":"Gillian Gough","raw_affiliation_strings":["Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore","institution_ids":["https://openalex.org/I165932596"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065130193","display_name":"Sandra Kun\u0161tek","orcid":"https://orcid.org/0009-0006-6398-1311","observed_orcids":["https://orcid.org/0009-0006-6398-1311"]},"institutions":[{"id":"https://openalex.org/I181343428","display_name":"University of Zagreb","ror":"https://ror.org/00mv6sv71","country_code":"HR","type":"education","lineage":["https://openalex.org/I181343428"]}],"countries":["HR"],"is_corresponding":false,"raw_author_name":"Sandra Kun\u0161tek","raw_affiliation_strings":["Department of Pathophysiology, Faculty of Veterinary Medicine, University of Zagreb"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathophysiology, Faculty of Veterinary Medicine, University of Zagreb","institution_ids":["https://openalex.org/I181343428"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5157838143","display_name":"Mirna Babi\u0107","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210148069","display_name":"Op\u0107a Bolnica Vara\u017edin","ror":"https://ror.org/056bmw021","country_code":"HR","type":"healthcare","lineage":["https://openalex.org/I4210148069"]}],"countries":["HR"],"is_corresponding":false,"raw_author_name":"Mirna Babi\u0107","raw_affiliation_strings":["Vara\u017edin General Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Vara\u017edin General Hospital","institution_ids":["https://openalex.org/I4210148069"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073644204","display_name":"Aoife Murray","orcid":"https://orcid.org/0000-0002-4780-3957","observed_orcids":["https://orcid.org/0000-0002-4780-3957"]},"institutions":[{"id":"https://openalex.org/I4210132925","display_name":"Alzheimer\u2019s Research UK","ror":"https://ror.org/02ymzm013","country_code":"GB","type":"nonprofit","lineage":["https://openalex.org/I4210132925"]},{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Aoife Murray","raw_affiliation_strings":["ARUK-UCL Drug Discovery Institute, Faculty of Brain Sciences, University College London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"ARUK-UCL Drug Discovery Institute, Faculty of Brain Sciences, University College London","institution_ids":["https://openalex.org/I4210132925","https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011051179","display_name":"Dean Ni\u017eeti\u0107","orcid":"https://orcid.org/0000-0001-5486-5761","observed_orcids":["https://orcid.org/0000-0001-5486-5761"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I4405263501","display_name":"Blizard Institute","ror":"https://ror.org/01y7pzx08","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079","https://openalex.org/I4405263501"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Dean Ni\u017eeti\u0107","raw_affiliation_strings":["Faculty of Medicine and Dentistry, Blizard Institute, Queen Mary University of London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Faculty of Medicine and Dentistry, Blizard Institute, Queen Mary University of London","institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012138478","display_name":"Ivan Ali\u0107","orcid":"https://orcid.org/0000-0002-8125-8198","observed_orcids":["https://orcid.org/0000-0002-8125-8198"]},"institutions":[{"id":"https://openalex.org/I166337079","display_name":"Queen Mary University of London","ror":"https://ror.org/026zzn846","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079"]},{"id":"https://openalex.org/I181343428","display_name":"University of Zagreb","ror":"https://ror.org/00mv6sv71","country_code":"HR","type":"education","lineage":["https://openalex.org/I181343428"]},{"id":"https://openalex.org/I4405263501","display_name":"Blizard Institute","ror":"https://ror.org/01y7pzx08","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I166337079","https://openalex.org/I4405263501"]}],"countries":["GB","HR"],"is_corresponding":true,"raw_author_name":"Ivan Ali\u0107","raw_affiliation_strings":["Department of Anatomy, Histology and Embryology, Faculty of Veterinary Medicine, University of Zagreb","Faculty of Medicine and Dentistry, Blizard Institute, Queen Mary University of London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anatomy, Histology and Embryology, Faculty of Veterinary Medicine, University of Zagreb","institution_ids":["https://openalex.org/I181343428"]},{"raw_affiliation_string":"Faculty of Medicine and Dentistry, Blizard Institute, Queen Mary University of London","institution_ids":["https://openalex.org/I166337079","https://openalex.org/I4405263501"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":7,"corresponding_author_ids":["https://openalex.org/A5011051179","https://openalex.org/A5012138478","https://openalex.org/A5039520374"],"corresponding_institution_ids":["https://openalex.org/I166337079","https://openalex.org/I181343428","https://openalex.org/I4405263501"],"apc_list":{"value":3150,"currency":"CHF","value_usd":3801},"apc_paid":{"value":3150,"currency":"CHF","value_usd":3801},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.57139052,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"14","issue":null,"first_page":"1963992","last_page":"1963992"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.9907000064849854,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.9907000064849854,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.00419999985024333,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T13258","display_name":"Williams Syndrome Research","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2806","display_name":"Developmental Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/dyrk1a","display_name":"DYRK1A","score":0.9990000128746033},{"id":"https://openalex.org/keywords/gene-dosage","display_name":"gene dosage","score":0.6359999775886536},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.9330000281333923},{"id":"https://openalex.org/keywords/down-syndrome","display_name":"Down syndrome","score":0.9909999966621399},{"id":"https://openalex.org/keywords/down-syndrome-critical-region","display_name":"Down syndrome critical region","score":0.9039999842643738},{"id":"https://openalex.org/keywords/protein-kinases","display_name":"protein kinases","score":0.7440000176429749},{"id":"https://openalex.org/keywords/dosage-sensitive-genes","display_name":"dosage-sensitive genes","score":0.6690000295639038},{"id":"https://openalex.org/keywords/therapeutic-target","display_name":"therapeutic target","score":0.9700000286102295}],"concepts":[{"id":"https://openalex.org/C2777736865","wikidata":"https://www.wikidata.org/wiki/Q17915111","display_name":"DYRK1A","level":3,"score":0.9768000245094299},{"id":"https://openalex.org/C68838962","wikidata":"https://www.wikidata.org/wiki/Q852654","display_name":"Haploinsufficiency","level":4,"score":0.8508999943733215},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5896999835968018},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5565999746322632},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.5257999897003174},{"id":"https://openalex.org/C137555145","wikidata":"https://www.wikidata.org/wiki/Q753218","display_name":"Chromosome 21","level":4,"score":0.5157999992370605},{"id":"https://openalex.org/C2779954681","wikidata":"https://www.wikidata.org/wiki/Q47715","display_name":"Down syndrome","level":2,"score":0.4997999966144562},{"id":"https://openalex.org/C14036430","wikidata":"https://www.wikidata.org/wiki/Q3736076","display_name":"Function (biology)","level":2,"score":0.39340001344680786},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.36980000138282776},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3580999970436096},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3416000008583069},{"id":"https://openalex.org/C165864922","wikidata":"https://www.wikidata.org/wiki/Q411391","display_name":"Regulation of gene expression","level":3,"score":0.3125999867916107},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3089999854564667},{"id":"https://openalex.org/C19843653","wikidata":"https://www.wikidata.org/wiki/Q213907","display_name":"Model organism","level":3,"score":0.3010999858379364},{"id":"https://openalex.org/C145103041","wikidata":"https://www.wikidata.org/wiki/Q1151519","display_name":"Embryonic stem cell","level":3,"score":0.30090001225471497},{"id":"https://openalex.org/C42362537","wikidata":"https://www.wikidata.org/wiki/Q87099740","display_name":"Tyrosine kinase","level":3,"score":0.29919999837875366},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.28999999165534973},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.2842000126838684},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.2815999984741211},{"id":"https://openalex.org/C1491633281","wikidata":"https://www.wikidata.org/wiki/Q7868","display_name":"Cell","level":2,"score":0.27959999442100525},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.2793999910354614},{"id":"https://openalex.org/C189014844","wikidata":"https://www.wikidata.org/wiki/Q189118","display_name":"Cell type","level":3,"score":0.27720001339912415},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.27549999952316284},{"id":"https://openalex.org/C62112901","wikidata":"https://www.wikidata.org/wiki/Q189159","display_name":"Cell growth","level":2,"score":0.2732999920845032},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.2639000117778778},{"id":"https://openalex.org/C184235292","wikidata":"https://www.wikidata.org/wiki/Q421851","display_name":"Kinase","level":2,"score":0.26339998841285706},{"id":"https://openalex.org/C147025567","wikidata":"https://www.wikidata.org/wiki/Q16335140","display_name":"Cellular model","level":3,"score":0.25760000944137573},{"id":"https://openalex.org/C148738053","wikidata":"https://www.wikidata.org/wiki/Q210861","display_name":"Cellular differentiation","level":3,"score":0.25040000677108765}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.3389/fcell.2026.1963992","doi":"https://doi.org/10.3389/fcell.2026.1963992","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fcell.2026.1963992","pdf_url":"https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2026.1963992/pdf","source":{"id":"https://openalex.org/S2596924766","display_name":"Frontiers in Cell and Developmental Biology","issn_l":"2296-634X","issn":["2296-634X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Cell and Developmental Biology","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13683934","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13683934/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13683934/pdf/fcell-14-1963992.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Front Cell Dev Biol","raw_type":"Text"},{"id":"pmid:42909264","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42909264","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in cell and developmental biology","raw_type":"Journal Article"},{"id":"pmh:oai:eprints.ucl.ac.uk.OAI2:10231767","doi":null,"is_oa":true,"landing_page_url":"https://discovery.ucl.ac.uk/id/eprint/10231767/","pdf_url":"https://discovery.ucl.ac.uk/id/eprint/10231767/1/Plecas%20et%20al%202026_Frontiers%20in%20Cell%20and%20Developmental%20Biology_DYRK1A%20rev.pdf","source":{"id":"https://openalex.org/S4306400024","display_name":"UCL Discovery (University College London)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I45129253","host_organization_name":"University College London","host_organization_lineage":["https://openalex.org/I45129253"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Cell and Developmental Biology , 14 , Article 1963992. (2026)","raw_type":"Article"},{"id":"pmh:oai:doaj.org/article:6e05e55575b344a4be9b742d41b8e469","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/6e05e55575b344a4be9b742d41b8e469","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Frontiers in Cell and Developmental Biology, Vol 14 (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3389/fcell.2026.1963992","doi":"https://doi.org/10.3389/fcell.2026.1963992","is_oa":true,"landing_page_url":"https://doi.org/10.3389/fcell.2026.1963992","pdf_url":"https://www.frontiersin.org/journals/cell-and-developmental-biology/articles/10.3389/fcell.2026.1963992/pdf","source":{"id":"https://openalex.org/S2596924766","display_name":"Frontiers in Cell and Developmental Biology","issn_l":"2296-634X","issn":["2296-634X"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320527","host_organization_name":"Frontiers Media","host_organization_lineage":["https://openalex.org/P4310320527"],"host_organization_lineage_names":["Frontiers Media"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Frontiers in Cell and Developmental Biology","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G1007353426","display_name":null,"funder_award_id":"HRZZ-UIP-2025-02-5828","funder_id":"https://openalex.org/F4320322674","funder_display_name":"Hrvatska Zaklada za Znanost"},{"id":"https://openalex.org/G446463548","display_name":"Human Cortico-Motor Assembloids reveal the role of the DYRK1A gene in Down syndrome","funder_award_id":"UIP-2025-02-5828","funder_id":"https://openalex.org/F4320322674","funder_display_name":"Hrvatska Zaklada za Znanost"},{"id":"https://openalex.org/G6495417293","display_name":"Synaptic, Cellular and Neural Circuit Dysfunction in Down Syndrome","funder_award_id":"217199","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"},{"id":"https://openalex.org/G6718996987","display_name":"Synaptic, Cellular and Neural Circuit Dysfunction in Down Syndrome","funder_award_id":"217199/Z/19/Z","funder_id":"https://openalex.org/F4320311904","funder_display_name":"Wellcome Trust"}],"funders":[{"id":"https://openalex.org/F4320311904","display_name":"Wellcome Trust","ror":"https://ror.org/029chgv08"},{"id":"https://openalex.org/F4320322674","display_name":"Hrvatska Zaklada za Znanost","ror":"https://ror.org/03n51vw80"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7220839503.pdf","grobid_xml":"https://content.openalex.org/works/W7220839503.grobid-xml"},"referenced_works_count":87,"referenced_works":["https://openalex.org/W1487193077","https://openalex.org/W1520236834","https://openalex.org/W1608695637","https://openalex.org/W1966836247","https://openalex.org/W1972305852","https://openalex.org/W1979702680","https://openalex.org/W1984976614","https://openalex.org/W1986503994","https://openalex.org/W1987510426","https://openalex.org/W1988169760","https://openalex.org/W2012258557","https://openalex.org/W2018159415","https://openalex.org/W2018945229","https://openalex.org/W2021800885","https://openalex.org/W2028803495","https://openalex.org/W2044672072","https://openalex.org/W2063811379","https://openalex.org/W2069389312","https://openalex.org/W2072930008","https://openalex.org/W2084233122","https://openalex.org/W2085790004","https://openalex.org/W2092098171","https://openalex.org/W2112197800","https://openalex.org/W2123281538","https://openalex.org/W2125987139","https://openalex.org/W2134626691","https://openalex.org/W2138977668","https://openalex.org/W2139031198","https://openalex.org/W2141621273","https://openalex.org/W2141897125","https://openalex.org/W2142046859","https://openalex.org/W2145057440","https://openalex.org/W2146002876","https://openalex.org/W2157645703","https://openalex.org/W2169020432","https://openalex.org/W2247836688","https://openalex.org/W2277946576","https://openalex.org/W2520375473","https://openalex.org/W2592593083","https://openalex.org/W2601070421","https://openalex.org/W2614575602","https://openalex.org/W2752703030","https://openalex.org/W2789849905","https://openalex.org/W2791520226","https://openalex.org/W2799892338","https://openalex.org/W2801140847","https://openalex.org/W2804894270","https://openalex.org/W2807113136","https://openalex.org/W2907422278","https://openalex.org/W2940154837","https://openalex.org/W2947938707","https://openalex.org/W2953159648","https://openalex.org/W2954604515","https://openalex.org/W3096340360","https://openalex.org/W3193018141","https://openalex.org/W3197233693","https://openalex.org/W3216974174","https://openalex.org/W4200565711","https://openalex.org/W4205247356","https://openalex.org/W4206983653","https://openalex.org/W4210691315","https://openalex.org/W4281558139","https://openalex.org/W4309660418","https://openalex.org/W4313236633","https://openalex.org/W4367051478","https://openalex.org/W4381848743","https://openalex.org/W4384068228","https://openalex.org/W4385295323","https://openalex.org/W4391163837","https://openalex.org/W4391735421","https://openalex.org/W4400513371","https://openalex.org/W4401121451","https://openalex.org/W4402313304","https://openalex.org/W4403366583","https://openalex.org/W4408417359","https://openalex.org/W4408840759","https://openalex.org/W4411177183","https://openalex.org/W4412640356","https://openalex.org/W4414532958","https://openalex.org/W4415346027","https://openalex.org/W7114799703","https://openalex.org/W7125717724","https://openalex.org/W7128485231","https://openalex.org/W7162104599","https://openalex.org/W7164183890","https://openalex.org/W7166528878","https://openalex.org/W7170477056"],"related_works":["https://openalex.org/W4411177183","https://openalex.org/W1988650921","https://openalex.org/W4410905209","https://openalex.org/W7130515096","https://openalex.org/W4387573023","https://openalex.org/W2044935263","https://openalex.org/W7171142022","https://openalex.org/W3216974174","https://openalex.org/W7167493019","https://openalex.org/W2511491430"],"abstract_inverted_index":{"The":[0],"DYRK1A":[1,26,58,67,71,95,143,162,190],"(Dual-Specificity":[2],"Tyrosine":[3],"Phosphorylation-Regulated":[4],"Kinase":[5],"1A)":[6],"gene":[7,100,115],"is":[8,27,96,102,193],"located":[9],"on":[10],"human":[11,64,172],"chromosome":[12],"21":[13,87],"(HSA21)":[14],"within":[15],"the":[16,30,33,78,93,106,155,170,210,218],"Down":[17,81,165],"Syndrome":[18],"Critical":[19],"Region":[20],"(DSCR).":[21],"As":[22],"a":[23,135,186],"protein":[24],"kinase,":[25],"involved":[28],"in":[29,47,53,138],"regulation":[31],"of":[32,57,77,92,105,142,189,212,220],"cell":[34,36],"cycle,":[35],"growth,":[37],"transcription,":[38],"and":[39,49,52,80,101,113,145,164,174,202,216],"cellular":[40,173],"communication.":[41],"It":[42],"also":[43],"plays":[44],"essential":[45],"roles":[46],"embryonic":[48],"neuronal":[50],"development,":[51],"disease":[54],"pathogenesis.":[55],"Dysregulation":[56],"has":[59],"been":[60],"associated":[61],"with":[62],"several":[63,127],"disorders,":[65],"including":[66],"syndrome,":[68,166],"caused":[69,84],"by":[70,85],"haploinsufficiency":[72],"(i.e.,":[73,88],"one":[74,104],"functional":[75,90],"copy":[76],"gene)":[79],"syndrome":[82,163],"(DS),":[83],"trisomy":[86],"three":[89],"copies":[91],"gene).":[94],"an":[97,205],"extremely":[98],"dosage-sensitive":[99],"considered":[103],"\u201cGoldilocks\u201d":[107],"genes,":[108],"for":[109,181],"which":[110],"both":[111,161],"increased":[112],"decreased":[114],"dosage":[116],"can":[117],"lead":[118],"to":[119,160,195,226],"pathological":[120],"phenotypes.":[121],"Interestingly,":[122],"these":[123],"two":[124],"syndromes":[125],"share":[126],"overlapping":[128],"clinical":[129,227],"features.":[130],"This":[131],"apparent":[132],"paradox":[133],"represents/highlights":[134],"major":[136],"gap":[137],"our":[139],"current":[140],"understanding":[141,188],"function":[144],"raises":[146],"important":[147,157],"biological":[148],"questions.":[149],"In":[150],"this":[151],"review,":[152],"we":[153],"summarise":[154],"most":[156],"findings":[158],"related":[159],"as":[167,169],"well":[168],"available":[171],"animal":[175],"models":[176],"that":[177,222],"provide":[178],"valuable":[179],"platforms":[180],"future":[182],"research.":[183],"To":[184],"obtain":[185],"comprehensive":[187],"role,":[191],"it":[192],"necessary":[194],"integrate":[196],"data":[197],"from":[198],"multiple":[199],"experimental":[200],"systems":[201],"sources.":[203],"Such":[204],"integrated":[206],"approach":[207],"will":[208],"facilitate":[209],"identification":[211],"novel":[213],"therapeutic":[214],"targets":[215],"support":[217],"development":[219],"treatments":[221],"may":[223],"ultimately":[224],"advance":[225],"trials.":[228]},"counts_by_year":[],"updated_date":"2026-10-29T09:56:32.521200","created_date":"2026-10-08T00:00:00"}
