{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T13:07:13Z","timestamp":1792674433558,"version":"4.5.0"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2015,4,29]],"date-time":"2015-04-29T00:00:00Z","timestamp":1430265600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2015,10]]},"DOI":"10.1038\/ejhg.2015.29","type":"journal-article","created":{"date-parts":[[2015,4,29]],"date-time":"2015-04-29T10:25:15Z","timestamp":1430303115000},"page":"1482-1487","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":77,"title":["Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A"],"prefix":"10.1038","volume":"23","author":[{"given":"Lucas M","family":"Bronicki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Redin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Severine","family":"Drunat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Am\u00e9lie","family":"Piton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Lyons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Passemard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clarisse","family":"Baumann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Faivre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9271-3961","authenticated-orcid":false,"given":"Julien","family":"Thevenon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Baptiste","family":"Rivi\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Gan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Francannet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marjolaine","family":"Willems","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Murat","family":"Gunel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie R","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph G","family":"Gleeson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Mandel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger E","family":"Stevenson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J","family":"Friez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur S","family":"Aylsworth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,4,29]]},"reference":[{"key":"BFejhg201529_CR1","doi-asserted-by":"publisher","first-page":"81","DOI":"10.1146\/annurev-genet-110410-132512","volume":"45","author":"H van Bokhoven","year":"2011","unstructured":"van Bokhoven H : Genetic and epigenetic networks in intellectual disabilities. Annu Rev Genet 2011; 45: 81\u2013104.","journal-title":"Annu Rev Genet"},{"key":"BFejhg201529_CR2","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1016\/j.neubiorev.2014.02.015","volume":"46","author":"AK Srivastava","year":"2014","unstructured":"Srivastava AK, Schwartz CE : Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms. Neurosci Biobehav Rev 2014; 46: 161\u2013174.","journal-title":"Neurosci Biobehav Rev"},{"key":"BFejhg201529_CR3","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1016\/j.ajhg.2012.02.018","volume":"90","author":"HA Lubs","year":"2012","unstructured":"Lubs HA, Stevenson RE, Schwartz CE : Fragile X and X-linked intellectual disability: four decades of discovery. Am J Hum Genet 2012; 90: 579\u2013590.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201529_CR4","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1177\/1073858413493972","volume":"19","author":"S Bassani","year":"2013","unstructured":"Bassani S, Zapata J, Gerosa L, Moretto E, Murru L, Passafaro M : The neurobiology of X-linked intellectual disability. Neuroscientist 2013; 19: 541\u2013552.","journal-title":"Neuroscientist"},{"key":"BFejhg201529_CR5","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1016\/j.ajhg.2013.06.013","volume":"93","author":"A Piton","year":"2013","unstructured":"Piton A, Redin C, Mandel JL : XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing. Am J Hum Genet 2013; 93: 368\u2013383.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201529_CR6","doi-asserted-by":"publisher","first-page":"344","DOI":"10.1038\/nature13394","volume":"511","author":"C Gilissen","year":"2014","unstructured":"Gilissen C, Hehir-Kwa JY, Thung DT et al: Genome sequencing identifies major causes of severe intellectual disability. Nature 2014; 511: 344\u2013347.","journal-title":"Nature"},{"key":"BFejhg201529_CR7","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1038\/gim.2014.18","volume":"16","author":"LB Henderson","year":"2014","unstructured":"Henderson LB, Applegate CD, Wohler E, Sheridan MB, Hoover-Fong J, Batista DA : The impact of chromosomal microarray on clinical management: a retrospective analysis. Genet Med 2014; 16: 657\u2013664.","journal-title":"Genet Med"},{"key":"BFejhg201529_CR8","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1111\/j.1742-4658.2010.07956.x","volume":"278","author":"W Becker","year":"2011","unstructured":"Becker W, Sippl W : Activation, regulation, and inhibition of DYRK1A. FEBS J 2011; 278: 246\u2013256.","journal-title":"FEBS J"},{"key":"BFejhg201529_CR9","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1111\/j.1742-4658.2010.07954.x","volume":"278","author":"FJ Tejedor","year":"2011","unstructured":"Tejedor FJ, Hammerle B : MNB\/DYRK1A as a multiple regulator of neuronal development. FEBS J 2011; 278: 223\u2013235.","journal-title":"FEBS J"},{"key":"BFejhg201529_CR10","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1111\/j.1742-4658.2010.07955.x","volume":"278","author":"J Wegiel","year":"2011","unstructured":"Wegiel J, Gong CX, Hwang YW : The role of DYRK1A in neurodegenerative diseases. FEBS J 2011; 278: 236\u2013245.","journal-title":"FEBS J"},{"key":"BFejhg201529_CR11","doi-asserted-by":"publisher","first-page":"244","DOI":"10.5607\/en.2013.22.4.244","volume":"22","author":"J Park","year":"2013","unstructured":"Park J, Chung KC : New perspectives of Dyrk1A role in neurogenesis and neuropathologic features of Down syndrome. Exp Neurobiol 2013; 22: 244\u2013248.","journal-title":"Exp Neurobiol"},{"key":"BFejhg201529_CR12","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1093\/hmg\/5.9.1305","volume":"5","author":"J Guimera","year":"1996","unstructured":"Guimera J, Casas C, Pucharcos C et al: A human homologue of Drosophila minibrain (MNB) is expressed in the neuronal regions affected in Down syndrome and maps to the critical region. Hum Mol Genet 1996; 5: 1305\u20131310.","journal-title":"Hum Mol Genet"},{"key":"BFejhg201529_CR13","doi-asserted-by":"crossref","unstructured":"Galceran J, de Graaf K, Tejedor FJ, Becker W : The MNB\/DYRK1A protein kinase: genetic and biochemical properties. J Neural Transm Suppl 2003; 139\u2013148.","DOI":"10.1007\/978-3-7091-6721-2_12"},{"key":"BFejhg201529_CR14","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1111\/j.1460-9568.2008.06092.x","volume":"27","author":"B Hammerle","year":"2008","unstructured":"Hammerle B, Elizalde C, Tejedor FJ : The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb\/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development. Eur J Neurosci 2008; 27: 1061\u20131074.","journal-title":"Eur J Neurosci"},{"key":"BFejhg201529_CR15","doi-asserted-by":"publisher","first-page":"1574","DOI":"10.1242\/jcs.044354","volume":"122","author":"J Fernandez-Martinez","year":"2009","unstructured":"Fernandez-Martinez J, Vela EM, Tora-Ponsioen M, Ocana OH, Nieto MA, Galceran J : Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A. J Cell Sci 2009; 122: 1574\u20131583.","journal-title":"J Cell Sci"},{"key":"BFejhg201529_CR16","doi-asserted-by":"publisher","first-page":"e34845","DOI":"10.1371\/journal.pone.0034845","volume":"7","author":"N Murakami","year":"2012","unstructured":"Murakami N, Bolton DC, Kida E, Xie W, Hwang YW : Phosphorylation by Dyrk1A of clathrin coated vesicle-associated proteins: identification of the substrate proteins and the effects of phosphorylation. PLoS One 2012; 7: e34845.","journal-title":"PLoS One"},{"key":"BFejhg201529_CR17","doi-asserted-by":"publisher","first-page":"e1289","DOI":"10.1038\/cddis.2014.253","volume":"5","author":"MJ Barallobre","year":"2014","unstructured":"Barallobre MJ, Perier C, Bove J et al: DYRK1A promotes dopaminergic neuron survival in the developing brain and in a mouse model of Parkinson's disease. Cell Death Dis 2014; 5: e1289.","journal-title":"Cell Death Dis"},{"key":"BFejhg201529_CR18","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/0896-6273(95)90286-4","volume":"14","author":"F Tejedor","year":"1995","unstructured":"Tejedor F, Zhu XR, Kaltenbach E et al: Minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila. Neuron 1995; 14: 287\u2013301.","journal-title":"Neuron"},{"key":"BFejhg201529_CR19","doi-asserted-by":"publisher","first-page":"6636","DOI":"10.1128\/MCB.22.18.6636-6647.2002","volume":"22","author":"V Fotaki","year":"2002","unstructured":"Fotaki V, Dierssen M, Alcantara S et al: Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice. Mol Cell Biol 2002; 22: 6636\u20136647.","journal-title":"Mol Cell Biol"},{"key":"BFejhg201529_CR20","doi-asserted-by":"publisher","first-page":"815","DOI":"10.1037\/0735-7044.118.4.815","volume":"118","author":"V Fotaki","year":"2004","unstructured":"Fotaki V, Martinez De Lagran M, Estivill X, Arbones M, Dierssen M : Haploinsufficiency of Dyrk1A in mice leads to specific alterations in the development and regulation of motor activity. Behav Neurosci 2004; 118: 815\u2013821.","journal-title":"Behav Neurosci"},{"key":"BFejhg201529_CR21","doi-asserted-by":"publisher","first-page":"e2575","DOI":"10.1371\/journal.pone.0002575","volume":"3","author":"G Arque","year":"2008","unstructured":"Arque G, Fotaki V, Fernandez D, Martinez de Lagran M, Arbones ML, Dierssen M : Impaired spatial learning strategies and novel object recognition in mice haploinsufficient for the dual specificity tyrosine-regulated kinase-1A (Dyrk1A). PLoS One 2008; 3: e2575.","journal-title":"PLoS One"},{"key":"BFejhg201529_CR22","doi-asserted-by":"publisher","first-page":"1165","DOI":"10.1016\/j.ajhg.2008.03.001","volume":"82","author":"RS Moller","year":"2008","unstructured":"Moller RS, Kubart S, Hoeltzenbein M et al: Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. Am J Hum Genet 2008; 82: 1165\u20131170.","journal-title":"Am J Hum Genet"},{"key":"BFejhg201529_CR23","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1159\/000320113","volume":"1","author":"R Oegema","year":"2010","unstructured":"Oegema R, de Klein A, Verkerk AJ et al: Distinctive phenotypic abnormalities associated with submicroscopic 21q22 deletion including DYRK1A. Mol Syndromol 2010; 1: 113\u2013120.","journal-title":"Mol Syndromol"},{"key":"BFejhg201529_CR24","doi-asserted-by":"publisher","first-page":"950","DOI":"10.1002\/ajmg.a.33228","volume":"152A","author":"H Fujita","year":"2010","unstructured":"Fujita H, Torii C, Kosaki R et al: Microdeletion of the Down syndrome critical region at 21q22. Am J Med Genet A 2010; 152A: 950\u2013953.","journal-title":"Am J Med Genet A"},{"key":"BFejhg201529_CR25","doi-asserted-by":"publisher","first-page":"113","DOI":"10.1002\/ajmg.a.33735","volume":"155A","author":"T Yamamoto","year":"2011","unstructured":"Yamamoto T, Shimojima K, Nishizawa T, Matsuo M, Ito M, Imai K : Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6. Am J Med Genet A 2011; 155A: 113\u2013119.","journal-title":"Am J Med Genet A"},{"key":"BFejhg201529_CR26","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/j.ejmg.2012.03.011","volume":"55","author":"A Valetto","year":"2012","unstructured":"Valetto A, Orsini A, Bertini V et al: Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy. Eur J Med Genet 2012; 55: 362\u2013366.","journal-title":"Eur J Med Genet"},{"key":"BFejhg201529_CR27","doi-asserted-by":"publisher","first-page":"296","DOI":"10.1111\/j.1399-0004.2010.01544.x","volume":"79","author":"BW van Bon","year":"2011","unstructured":"van Bon BW, Hoischen A, Hehir-Kwa J et al: Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly. Clin Genet 2011; 79: 296\u2013299.","journal-title":"Clin Genet"},{"key":"BFejhg201529_CR28","doi-asserted-by":"publisher","first-page":"731","DOI":"10.1136\/jmedgenet-2012-101251","volume":"49","author":"JB Courcet","year":"2012","unstructured":"Courcet JB, Faivre L, Malzac P et al: The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet 2012; 49: 731\u2013736.","journal-title":"J Med Genet"},{"key":"BFejhg201529_CR29","doi-asserted-by":"publisher","first-page":"1619","DOI":"10.1126\/science.1227764","volume":"338","author":"BJ O'Roak","year":"2012","unstructured":"O'Roak BJ, Vives L, Fu W et al: Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012; 338: 1619\u20131622.","journal-title":"Science"},{"key":"BFejhg201529_CR30","doi-asserted-by":"publisher","first-page":"246","DOI":"10.1038\/nature10989","volume":"485","author":"BJ O'Roak","year":"2012","unstructured":"O'Roak BJ, Vives L, Girirajan S et al: Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 2012; 485: 246\u2013250.","journal-title":"Nature"},{"key":"BFejhg201529_CR31","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1016\/j.neuron.2012.04.009","volume":"74","author":"I Iossifov","year":"2012","unstructured":"Iossifov I, Ronemus M, Levy D et al: De novo gene disruptions in children on the autistic spectrum. Neuron 2012; 74: 285\u2013299.","journal-title":"Neuron"},{"key":"BFejhg201529_CR32","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1093\/nar\/29.1.308","volume":"29","author":"ST Sherry","year":"2001","unstructured":"Sherry ST, Ward MH, Kholodov M et al: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001; 29: 308\u2013311.","journal-title":"Nucleic Acids Res"},{"key":"BFejhg201529_CR33","doi-asserted-by":"publisher","first-page":"1061","DOI":"10.1038\/nature09534","volume":"467","author":"GR Abecasis","year":"2010","unstructured":"1000 Genomes Project Consortium 1000 Genomes Project Consortium, Abecasis GR, Altshuler D et al: A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061\u20131073.","journal-title":"Nature"},{"key":"BFejhg201529_CR34","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","volume":"7","author":"IA Adzhubei","year":"2010","unstructured":"Adzhubei IA, Schmidt S, Peshkin L et al: A method and server for predicting damaging missense mutations. Nat Methods 2010; 7: 248\u2013249.","journal-title":"Nat Methods"},{"key":"BFejhg201529_CR35","doi-asserted-by":"publisher","first-page":"1073","DOI":"10.1038\/nprot.2009.86","volume":"4","author":"P Kumar","year":"2009","unstructured":"Kumar P, Henikoff S, Ng PC : Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009; 4: 1073\u20131081.","journal-title":"Nat Protoc"},{"key":"BFejhg201529_CR36","doi-asserted-by":"publisher","first-page":"575","DOI":"10.1038\/nmeth0810-575","volume":"7","author":"JM Schwarz","year":"2010","unstructured":"Schwarz JM, Rodelsperger C, Schuelke M, Seelow D : MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010; 7: 575\u2013576.","journal-title":"Nat Methods"},{"key":"BFejhg201529_CR37","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1136\/jmedgenet-2012-100875","volume":"49","author":"C Redin","year":"2012","unstructured":"Redin C, Le Gras S, Mhamdi O et al: Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes. J Med Genet 2012; 49: 502\u2013512.","journal-title":"J Med Genet"},{"key":"BFejhg201529_CR38","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","volume":"26","author":"H Li","year":"2010","unstructured":"Li H, Durbin R : Fast and accurate long-read alignment with Burrows-Wheeler Transform. Bioinformatics 2010; 26: 589\u2013595.","journal-title":"Bioinformatics"},{"key":"BFejhg201529_CR39","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E et al: The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297\u20131303.","journal-title":"Genome Res"},{"key":"BFejhg201529_CR40","doi-asserted-by":"publisher","first-page":"24","DOI":"10.1186\/gm145","volume":"2","author":"R Dalgleish","year":"2010","unstructured":"Dalgleish R, Flicek P, Cunningham F et al: Locus Reference Genomic sequences: an improved basis for describing human DNA variants. Genome Med 2010; 2: 24.","journal-title":"Genome Med"},{"key":"BFejhg201529_CR41","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1212\/WNL.0b013e3181b783f7","volume":"73","author":"S Ashwal","year":"2009","unstructured":"Ashwal S, Michelson D, Plawner L, Dobyns WB : Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society: Practice parameter: evaluation of children and adolescents with recurrent headaches: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. Neurology 2009; 73: 887\u2013897.","journal-title":"Neurology"},{"key":"BFejhg201529_CR42","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1042\/bj3590497","volume":"359","author":"S Himpel","year":"2001","unstructured":"Himpel S, Panzer P, Eirmbter K et al: Identification of the autophosphorylation sites and characterization of their effects in the protein kinase DYRK1A. Biochem J 2001; 359: 497\u2013505.","journal-title":"Biochem J"},{"key":"BFejhg201529_CR43","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1016\/S0006-291X(03)00148-7","volume":"302","author":"S Wiechmann","year":"2003","unstructured":"Wiechmann S, Czajkowska H, de Graaf K, Grotzinger J, Joost HG, Becker W : Unusual function of the activation loop in the protein kinase DYRK1A. Biochem Biophys Res Commun 2003; 302: 403\u2013408.","journal-title":"Biochem Biophys Res Commun"},{"key":"BFejhg201529_CR44","doi-asserted-by":"publisher","first-page":"115","DOI":"10.1016\/j.nbd.2005.02.004","volume":"20","author":"R Benavides-Piccione","year":"2005","unstructured":"Benavides-Piccione R, Dierssen M, Ballesteros-Yanez I et al: Alterations in the phenotype of neocortical pyramidal cells in the Dyrk1A+\/\u2212 mouse. Neurobiol Dis 2005; 20: 115\u2013122.","journal-title":"Neurobiol Dis"},{"key":"BFejhg201529_CR45","doi-asserted-by":"publisher","first-page":"13223","DOI":"10.1074\/jbc.M110.102574","volume":"285","author":"X Guo","year":"2010","unstructured":"Guo X, Williams JG, Schug TT, Li X : DYRK1A and DYRK3 promote cell survival through phosphorylation and activation of SIRT1. J Biol Chem 2010; 285: 13223\u201313232.","journal-title":"J Biol Chem"},{"key":"BFejhg201529_CR46","doi-asserted-by":"publisher","first-page":"2543","DOI":"10.1242\/dev.066167","volume":"138","author":"B Hammerle","year":"2011","unstructured":"Hammerle B, Ulin E, Guimera J, Becker W, Guillemot F, Tejedor FJ : Transient expression of Mnb\/Dyrk1a couples cell cycle exit and differentiation of neuronal precursors by inducing p27KIP1 expression and suppressing NOTCH signaling. Development 2011; 138: 2543\u20132554.","journal-title":"Development"},{"key":"BFejhg201529_CR47","doi-asserted-by":"publisher","first-page":"2084","DOI":"10.4161\/cc.29104","volume":"13","author":"U Soppa","year":"2014","unstructured":"Soppa U, Schumacher J, Florencio Ortiz V, Pasqualon T, Tejedor FJ, Becker W : The Down syndrome-related protein kinase DYRK1A phosphorylates p27(Kip1) and Cyclin D1 and induces cell cycle exit and neuronal differentiation. Cell Cycle 2014; 13: 2084\u20132100.","journal-title":"Cell Cycle"},{"key":"BFejhg201529_CR48","doi-asserted-by":"publisher","first-page":"2424","DOI":"10.1242\/jcs.040162","volume":"122","author":"TM Scales","year":"2009","unstructured":"Scales TM, Lin S, Kraus M, Goold RG, Gordon-Weeks PR : Nonprimed and DYRK1A-primed GSK3 beta-phosphorylation sites on MAP1B regulate microtubule dynamics in growing axons. J Cell Sci 2009; 122: 2424\u20132435.","journal-title":"J Cell Sci"},{"key":"BFejhg201529_CR49","doi-asserted-by":"publisher","first-page":"2867","DOI":"10.1093\/cercor\/bhr362","volume":"22","author":"M Martinez de Lagran","year":"2012","unstructured":"Martinez de Lagran M, Benavides-Piccione R, Ballesteros-Yanez I et al: Dyrk1A influences neuronal morphogenesis through regulation of cytoskeletal dynamics in mammalian cortical neurons. Cereb Cortex 2012; 22: 2867\u20132877.","journal-title":"Cereb Cortex"},{"key":"BFejhg201529_CR50","doi-asserted-by":"publisher","first-page":"1100","DOI":"10.1097\/NEN.0b013e31827733c8","volume":"71","author":"K Dowjat","year":"2012","unstructured":"Dowjat K, Adayev T, Kaczmarski W, Wegiel J, Hwang YW : Gene dosage-dependent association of DYRK1A with the cytoskeleton in the brain and lymphocytes of down syndrome patients. J Neuropathol Exp Neurol 2012; 71: 1100\u20131112.","journal-title":"J Neuropathol Exp Neurol"},{"key":"BFejhg201529_CR51","doi-asserted-by":"publisher","first-page":"e1002857","DOI":"10.1371\/journal.pgen.1002857","volume":"8","author":"SH Hong","year":"2012","unstructured":"Hong SH, Lee KS, Kwak SJ et al: Minibrain\/Dyrk1a regulates food intake through the Sir2-FOXO-sNPF\/NPY pathway in Drosophila and mammals. PLoS Genet 2012; 8: e1002857.","journal-title":"PLoS Genet"},{"key":"BFejhg201529_CR52","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1101\/gr.229102","volume":"12","author":"WJ Kent","year":"2002","unstructured":"Kent WJ, Sugnet CW, Furey TS et al: The human genome browser at UCSC. Genome Res 2002; 12: 996\u20131006.","journal-title":"Genome Res"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg201529.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201529","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg201529.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T17:15:06Z","timestamp":1684430106000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg201529"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,29]]},"references-count":52,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2015,10]]}},"alternative-id":["BFejhg201529"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2015.29","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,29]]},"assertion":[{"value":"12 September 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 December 2014","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 January 2015","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 April 2015","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}