{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T17:01:03Z","timestamp":1791824463091,"version":"4.3.4"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T00:00:00Z","timestamp":1675209600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Psychiatry"],"published-print":{"date-parts":[[2023,6]]},"DOI":"10.1038\/s41380-023-01941-3","type":"journal-article","created":{"date-parts":[[2023,2,1]],"date-time":"2023-02-01T02:15:39Z","timestamp":1675217739000},"page":"2370-2381","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["The mouse model of intellectual disability by ZBTB18\/RP58 haploinsufficiency shows cognitive dysfunction with synaptic impairment"],"prefix":"10.1038","volume":"28","author":[{"given":"Sayaka","family":"Hirai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6015-3007","authenticated-orcid":false,"given":"Hideki","family":"Miwa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroko","family":"Shimbo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keisuke","family":"Nakajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2073-1487","authenticated-orcid":false,"given":"Tomoko","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiaki","family":"Ohtaka-Maruyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2354-3759","authenticated-orcid":false,"given":"Shinobu","family":"Hirai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5674-420X","authenticated-orcid":false,"given":"Haruo","family":"Okado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,2,1]]},"reference":[{"key":"1941_CR1","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1016\/j.ridd.2010.12.018","volume":"32","author":"PK Maulik","year":"2011","unstructured":"Maulik PK, Mascarenhas MN, Mathers CD, Dua T, Saxena S. Prevalence of intellectual disability: a meta-analysis of population-based studies. Res Dev Disabil. 2011;32:419\u201336.","journal-title":"Res Dev Disabil"},{"key":"1941_CR2","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1016\/j.ridd.2010.12.008","volume":"32","author":"P Tunnicliffe","year":"2011","unstructured":"Tunnicliffe P, Oliver C. Phenotype-environment interactions in genetic syndromes associated with severe or profound intellectual disability. Res Dev Disabil. 2011;32:404\u201318.","journal-title":"Res Dev Disabil"},{"key":"1941_CR3","doi-asserted-by":"publisher","first-page":"441","DOI":"10.1146\/annurev-med-042711-140053","volume":"64","author":"JW Ellison","year":"2013","unstructured":"Ellison JW, Rosenfeld JA, Shaffer LG. Genetic basis of intellectual disability. Annu Rev Med. 2013;64:441\u201350.","journal-title":"Annu Rev Med"},{"key":"1941_CR4","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1007\/s00439-017-1772-0","volume":"136","author":"C Depienne","year":"2017","unstructured":"Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, et al. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet. 2017;136:463\u201379.","journal-title":"Hum Genet"},{"key":"1941_CR5","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3389\/fgene.2021.648351","volume":"12","author":"Y Tung","year":"2021","unstructured":"Tung Y, Lu H, Lin W, Huang T, Kim S, Hu G, et al. Case report: identification of a de novo microdeletion 1q44 in a patient with seizures and developmental delay. Front Genet. 2021;12:1\u20137.","journal-title":"Front Genet"},{"key":"1941_CR6","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1016\/j.ejmg.2012.08.005","volume":"55","author":"KK Selmer","year":"2012","unstructured":"Selmer KK, Bryne E, R\u00f8dningen OK, Fannemel M. A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures. Eur J Med Genet. 2012;55:715\u20138.","journal-title":"Eur J Med Genet"},{"key":"1941_CR7","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1007\/s00439-011-1073-y","volume":"131","author":"BC Ballif","year":"2012","unstructured":"Ballif BC, Rosenfeld JA, Traylor R, Theisen A, Bader PI, Ladda RL, et al. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet. 2012;131:145\u201356.","journal-title":"Hum Genet"},{"key":"1941_CR8","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/nature21062","volume":"542","author":"JF McRae","year":"2017","unstructured":"McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D, et al. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542:433\u20138.","journal-title":"Nature."},{"key":"1941_CR9","doi-asserted-by":"publisher","first-page":"26698","DOI":"10.1074\/jbc.273.41.26698","volume":"273","author":"K Aoki","year":"1998","unstructured":"Aoki K, Meng G, Suzuki K, Takashi T, Kameoka Y, Nakahara K, et al. RP58 associates with condensed chromatin and mediates a sequence- specific transcriptional repression. J Biol Chem. 1998;273:26698\u2013704.","journal-title":"J Biol Chem"},{"key":"1941_CR10","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1016\/j.brainres.2018.02.042","volume":"1705","author":"H Okado","year":"2019","unstructured":"Okado H. Regulation of brain development and brain function by the transcriptional repressor RP58. Brain Res. 2019;1705:15\u201323.","journal-title":"Brain Res"},{"key":"1941_CR11","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1111\/bph.15265","volume":"178","author":"H Okado","year":"2021","unstructured":"Okado H. Nervous system regulated by POZ domain Kr\u00fcppel-like zinc finger (POK) family transcription repressor RP58. Br J Pharm. 2021;178:813\u201326.","journal-title":"Br J Pharm"},{"key":"1941_CR12","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1002\/cne.21350","volume":"502","author":"C Ohtaka-Maruyama","year":"2007","unstructured":"Ohtaka-Maruyama C, Miwa A, Kawano H, Kasai M, Okado H. Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain. J Comp Neurol. 2007;502:1098\u2013108.","journal-title":"J Comp Neurol"},{"key":"1941_CR13","doi-asserted-by":"publisher","first-page":"140","DOI":"10.1016\/j.ydbio.2009.04.030","volume":"331","author":"H Okado","year":"2009","unstructured":"Okado H, Ohtaka-Maruyama C, Sugitani Y, Fukuda Y, Ishida R, Hirai S, et al. The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex. Dev Biol. 2009;331:140\u201351.","journal-title":"Dev Biol"},{"key":"1941_CR14","doi-asserted-by":"publisher","first-page":"458","DOI":"10.1016\/j.celrep.2013.01.012","volume":"3","author":"C Ohtaka-Maruyama","year":"2013","unstructured":"Ohtaka-Maruyama C, Hirai S, Miwa A, Heng JIT, Shitara H, Ishii R, et al. RP58 regulates the multipolar-bipolar transition of newborn neurons in the developing cerebral cortex. Cell Rep. 2013;3:458\u201371.","journal-title":"Cell Rep"},{"key":"1941_CR15","doi-asserted-by":"publisher","first-page":"1190","DOI":"10.1038\/emboj.2011.486","volume":"31","author":"S Hirai","year":"2012","unstructured":"Hirai S, Miwa A, Ohtaka-Maruyama C, Kasai M, Okabe S, Hata Y, et al. RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex. EMBO J. 2012;31:1190\u2013202.","journal-title":"EMBO J"},{"key":"1941_CR16","doi-asserted-by":"publisher","first-page":"2475","DOI":"10.1038\/npp.2015.117","volume":"40","author":"K Fujihara","year":"2015","unstructured":"Fujihara K, Miwa H, Kakizaki T, Kaneko R, Mikuni M, Tanahira C, et al. Glutamate decarboxylase 67 deficiency in a subset of GABAergic neurons induces schizophrenia-related phenotypes. Neuropsychopharmacology 2015;40:2475\u201386.","journal-title":"Neuropsychopharmacology"},{"key":"1941_CR17","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1111\/cge.12861","volume":"91","author":"JS Cohen","year":"2017","unstructured":"Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, et al. Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. Clin Genet. 2017;91:697\u2013707.","journal-title":"Clin Genet"},{"key":"1941_CR18","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1016\/j.neuron.2018.10.016","volume":"100","author":"F Cargnin","year":"2018","unstructured":"Cargnin F, Kwon JS, Katzman S, Chen B, Lee JW, Lee SK. FOXG1 orchestrates neocortical organization and cortico-cortical connections. Neuron. 2018;100:1083\u201396.e5.","journal-title":"Neuron."},{"key":"1941_CR19","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1038\/35104061","volume":"2","author":"H Hering","year":"2001","unstructured":"Hering H, Sheng M. Dendritic spines: structure, function and regulation. Nat Rev Neurosci. 2001;2:880\u20138.","journal-title":"Nat Rev Neurosci"},{"key":"1941_CR20","doi-asserted-by":"crossref","unstructured":"Pchitskaya E, Bezprozvanny I. Dendritic spines shape analysis\u2014classification or clusterization? Perspective. Front Synaptic Neurosci. 2020;12:31.","DOI":"10.3389\/fnsyn.2020.00031"},{"key":"1941_CR21","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","volume":"380","author":"A Rauch","year":"2012","unstructured":"Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380:1674\u201382.","journal-title":"Lancet."},{"key":"1941_CR22","doi-asserted-by":"publisher","first-page":"844","DOI":"10.1038\/ejhg.2013.249","volume":"22","author":"SA De Munnik","year":"2014","unstructured":"De Munnik SA, Garc\u00eda-Mi\u00f1a\u00far S, Hoischen A, Van Bon BW, Boycott KM, Schoots J, et al. A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome. Eur J Hum Genet. 2014;22:844\u20136.","journal-title":"Eur J Hum Genet"},{"key":"1941_CR23","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1038\/s41583-021-00428-w","volume":"22","author":"LQ Uddin","year":"2021","unstructured":"Uddin LQ. Cognitive and behavioural flexibility: neural mechanisms and clinical considerations. Nat Rev Neurosci. 2021;22:167\u201379.","journal-title":"Nat Rev Neurosci"},{"key":"1941_CR24","doi-asserted-by":"publisher","first-page":"684","DOI":"10.1093\/cercor\/bhp133","volume":"20","author":"D Balschun","year":"2010","unstructured":"Balschun D, Moechars D, Callaerts-Vegh Z, Vermaercke B, Van Acker N, Andries L, et al. Vesicular glutamate transporter VGLUT1 has a role in hippocampal long-term potentiation and spatial reversal learning. Cereb Cortex. 2010;20:684\u201393.","journal-title":"Cereb Cortex"},{"key":"1941_CR25","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1016\/0166-2236(88)90200-7","volume":"11","author":"DW Choi","year":"1988","unstructured":"Choi DW. Calcium-mediated neurotoxicity: relationship to specific channel types and role in ischemic damage. Trends Neurosci. 1988;11:465\u20139.","journal-title":"Trends Neurosci"},{"key":"1941_CR26","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1016\/0165-0173(90)90011-C","volume":"15","author":"JW McDonald","year":"1990","unstructured":"McDonald JW, Johnston MV. Physiological and pathophysiological roles of excitatory amino acids during central nervous system development. Brain Res Rev. 1990;15:41\u201370.","journal-title":"Brain Res Rev"},{"key":"1941_CR27","doi-asserted-by":"publisher","first-page":"54","DOI":"10.1016\/0166-2236(95)80016-U","volume":"18","author":"GL Collingridge","year":"1995","unstructured":"Collingridge GL, Bliss TV. Memories of NMDA receptors and LTP. Trends Neurosci. 1995;18:54\u201356.","journal-title":"Trends Neurosci"},{"key":"1941_CR28","doi-asserted-by":"publisher","first-page":"16142","DOI":"10.1523\/JNEUROSCI.2520-11.2011","volume":"31","author":"C O\u2019Donnel","year":"2011","unstructured":"O\u2019Donnel C, Nolan MF, van Rossum MCW. Dendritic spine dynamics regulate the long-term stability of synaptic plasticity. J Neurosci. 2011;31:16142\u201356.","journal-title":"J Neurosci"},{"key":"1941_CR29","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1002\/mgg3.387","volume":"6","author":"V van der Schoot","year":"2018","unstructured":"van der Schoot V, de Munnik S, Venselaar H, Elting M, Mancini GMS, Ravenswaaij-Arts CMA, et al. Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene. Mol Genet Genom Med. 2018;6:393\u2013400.","journal-title":"Mol Genet Genom Med"},{"key":"1941_CR30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41467-019-13993-7","volume":"11","author":"T Wang","year":"2020","unstructured":"Wang T, Hoekzema K, Vecchio D, Wu H, Sulovari A, Coe BP, et al. Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders. Nat Commun. 2020;11:1\u201313.","journal-title":"Nat Commun"}],"container-title":["Molecular Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41380-023-01941-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41380-023-01941-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41380-023-01941-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,27]],"date-time":"2023-10-27T08:02:44Z","timestamp":1698393764000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41380-023-01941-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,2,1]]},"references-count":30,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2023,6]]}},"alternative-id":["1941"],"URL":"https:\/\/doi.org\/10.1038\/s41380-023-01941-3","relation":{},"ISSN":["1359-4184","1476-5578"],"issn-type":[{"value":"1359-4184","type":"print"},{"value":"1476-5578","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,2,1]]},"assertion":[{"value":"27 March 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"29 December 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 January 2023","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 February 2023","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}