{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T08:42:10Z","timestamp":1760085730498,"version":"build-2065373602"},"reference-count":84,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:00:00Z","timestamp":1760054400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T00:00:00Z","timestamp":1760054400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Transl Psychiatry"],"DOI":"10.1038\/s41398-025-03616-9","type":"journal-article","created":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T06:22:14Z","timestamp":1760077334000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Developmental arrest of astrocyte lineage in Snai2 deletion mice: implication for the intellectual disability in patients with Waardenburg syndrome"],"prefix":"10.1038","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-0405-2039","authenticated-orcid":false,"given":"Chaobiao","family":"Xue","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haiyun","family":"Xu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiuyuan","family":"Huang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miaotong","family":"Su","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lifang","family":"He","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangping","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhexuan","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaohong","family":"Hong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaoxian","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhuozhi","family":"Dai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tongtong","family":"Cai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Can","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3856-3111","authenticated-orcid":false,"given":"Guohong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1832-6925","authenticated-orcid":false,"given":"Wenhong","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,10,10]]},"reference":[{"key":"3616_CR1","doi-asserted-by":"publisher","first-page":"391","DOI":"10.1002\/humu.21211","volume":"31","author":"V Pingault","year":"2010","unstructured":"Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, et al. Review and update of mutations causing Waardenburg syndrome. Hum. Mutat. 2010;31:391\u2013406.","journal-title":"Hum. Mutat."},{"key":"3616_CR2","doi-asserted-by":"publisher","first-page":"1169","DOI":"10.1086\/522090","volume":"81","author":"N Bondurand","year":"2007","unstructured":"Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, et al. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am. J. Hum. Genet. 2007;81:1169\u201385.","journal-title":"Am. J. Hum. Genet."},{"key":"3616_CR3","first-page":"455","volume":"52","author":"CF Hoth","year":"1993","unstructured":"Hoth CF, Milunsky A, Lipsky N, Sheffer R, Clarren SK, Baldwin CT. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I). Am. J. Hum. Genet. 1993;52:455\u201362.","journal-title":"Am. J. Hum. Genet."},{"key":"3616_CR4","doi-asserted-by":"publisher","DOI":"10.1155\/2019\/7143458","volume":"2019","author":"W Li","year":"2019","unstructured":"Li W, Mei L, Chen H, Cai X, Liu Y, Men M, et al. New genotypes and phenotypes in patients with 3 subtypes of Waardenburg Syndrome identified by diagnostic next-generation sequencing. Neural Plast. 2019;2019:7143458.","journal-title":"Neural Plast."},{"key":"3616_CR5","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1038\/s41434-021-00240-2","volume":"29","author":"S Huang","year":"2022","unstructured":"Huang S, Song J, He C, Cai X, Yuan K, Mei L, et al. Genetic insights, disease mechanisms, and biological therapeutics for Waardenburg syndrome. Gene Ther. 2022;29:479\u201397.","journal-title":"Gene Ther."},{"key":"3616_CR6","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2021.110758","volume":"147","author":"M Guo","year":"2021","unstructured":"Guo M, Li Q, Jiang C, Li S, Ruan B. A novel PAX3 mutation in a Chinese Han family with Waardenburg syndrome type 1. Int. J. Pediatr. Otorhinolaryngol. 2021;147:110758.","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"3616_CR7","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1016\/j.ijporl.2016.03.043","volume":"85","author":"J Ma","year":"2016","unstructured":"Ma J, Zhang TS, Lin K, Sun H, Jiang HC, Yang YL, et al. Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene. Int. J. Pediatr. Otorhinolaryngol. 2016;85:56\u201361.","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"3616_CR8","first-page":"1775","volume":"19","author":"J Ma","year":"2019","unstructured":"Ma J, Zhang Z, Jiang HC, Sun H, Ming C, Zhao LP, et al. A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II. Mol. Med. Rep. 2019;19:1775\u201380.","journal-title":"Mol. Med. Rep."},{"key":"3616_CR9","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.589784","volume":"11","author":"S Thongpradit","year":"2020","unstructured":"Thongpradit S, Jinawath N, Javed A, Jensen LT, Chunsuwan I, Rojnueangnit K, et al. Novel SOX10 mutations in Waardenburg syndrome: functional characterization and genotype-phenotype analysis. Front. Genet. 2020;11:589784.","journal-title":"Front. Genet."},{"key":"3616_CR10","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1038\/ng0193-26","volume":"3","author":"M Tassabehji","year":"1993","unstructured":"Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, et al. Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2. Nat. Genet. 1993;3:26\u201330.","journal-title":"Nat. Genet."},{"key":"3616_CR11","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1111\/j.1600-0749.1997.tb00462.x","volume":"10","author":"M Tachibana","year":"1997","unstructured":"Tachibana M. Evidence to suggest that expression of MITF induces melanocyte differentiation and haploinsufficiency of MITF causes Waardenburg syndrome type 2A. Pigment. Cell Res. 1997;10:25\u201333.","journal-title":"Pigment. Cell Res."},{"key":"3616_CR12","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1007\/s00439-011-1098-2","volume":"131","author":"H Zhang","year":"2012","unstructured":"Zhang H, Chen H, Luo H, An J, Sun L, Mei L, et al. Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II. Hum. Genet. 2012;131:491\u2013503.","journal-title":"Hum. Genet."},{"key":"3616_CR13","doi-asserted-by":"publisher","first-page":"3231","DOI":"10.1093\/hmg\/11.25.3231","volume":"11","author":"M S\u00e1nchez-Mart\u00edn","year":"2002","unstructured":"S\u00e1nchez-Mart\u00edn M, Rodr\u00edguez-Garc\u00eda A, P\u00e9rez-Losada J, Sagrera A, Read AP, S\u00e1nchez-Garc\u00eda I. SLUG (SNAI2) deletions in patients with Waardenburg disease. Hum. Mol. Genet. 2002;11:3231\u20136.","journal-title":"Hum. Mol. Genet."},{"key":"3616_CR14","doi-asserted-by":"publisher","first-page":"1436","DOI":"10.1002\/humu.21583","volume":"32","author":"A Chaoui","year":"2011","unstructured":"Chaoui A, Watanabe Y, Touraine R, Baral V, Goossens M, Pingault V, et al. Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. Hum. Mutat. 2011;32:1436\u201349.","journal-title":"Hum. Mutat."},{"key":"3616_CR15","doi-asserted-by":"publisher","first-page":"416","DOI":"10.1111\/cge.12631","volume":"89","author":"J Song","year":"2016","unstructured":"Song J, Feng Y, Acke FR, Coucke P, Vleminckx K, Dhooge IJ. Hearing loss in Waardenburg syndrome: a systematic review. Clin. Genet. 2016;89:416\u201325.","journal-title":"Clin. Genet."},{"key":"3616_CR16","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1038\/35000025","volume":"2","author":"A Cano","year":"2000","unstructured":"Cano A, P\u00e9rez-Moreno MA, Rodrigo I, Locascio A, Blanco MJ, del Barrio MG, et al. The transcription factor snail controls epithelial-mesenchymal transitions by repressing E-cadherin expression. Nat. Cell Biol. 2000;2:76\u201383.","journal-title":"Nat. Cell Biol."},{"key":"3616_CR17","first-page":"23","volume":"17","author":"G Assani","year":"2019","unstructured":"Assani G, Zhou Y. Effect of modulation of epithelial-mesenchymal transition regulators Snail1 and Snail2 on cancer cell radiosensitivity by targeting of the cell cycle, cell apoptosis and cell migration\/invasion. Oncol. Lett. 2019;17:23\u201330.","journal-title":"Oncol. Lett."},{"key":"3616_CR18","doi-asserted-by":"publisher","first-page":"835","DOI":"10.1126\/science.7513443","volume":"264","author":"MA Nieto","year":"1994","unstructured":"Nieto MA, Sargent MG, Wilkinson DG, Cooke J. Control of cell behavior during vertebrate development by Slug, a zinc finger gene. Science. 1994;264:835\u20139.","journal-title":"Science"},{"key":"3616_CR19","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-019-47665-9","volume":"9","author":"J Li","year":"2019","unstructured":"Li J, Perfetto M, Materna C, Li R, Thi Tran H, Vleminckx K, et al. A new transgenic reporter line reveals Wnt-dependent Snai2 re-expression and cranial neural crest differentiation in Xenopus. Sci. Rep. 2019;9:11191.","journal-title":"Sci. Rep."},{"key":"3616_CR20","doi-asserted-by":"publisher","first-page":"3040","DOI":"10.1093\/hmg\/ddad115","volume":"32","author":"L Dong","year":"2023","unstructured":"Dong L, Gao L. JMJD3 and SNAI2 synergistically protect against Parkinson\u2019s disease by mediating the YAP\/HIF1\u03b1 signaling pathway in a mouse model. Hum. Mol. Genet. 2023;32:3040\u201352.","journal-title":"Hum. Mol. Genet."},{"key":"3616_CR21","doi-asserted-by":"publisher","first-page":"286ra66","DOI":"10.1126\/scitranslmed.aaa5645","volume":"7","author":"R Krencik","year":"2015","unstructured":"Krencik R, Hokanson KC, Narayan AR, Dvornik J, Rooney GE, Rauen KA, et al. Dysregulation of astrocyte extracellular signaling in Costello syndrome. Sci. Transl. Med. 2015;7:286ra66.","journal-title":"Sci. Transl. Med."},{"key":"3616_CR22","doi-asserted-by":"publisher","first-page":"270","DOI":"10.30802\/AALAS-JAALAS-21-000046","volume":"61","author":"AT Antiorio","year":"2022","unstructured":"Antiorio AT, Alem\u00e1n-Laporte J, Zanatto DA, Pereira MAA, Gomes MS, Wadt D, et al. Mouse behavior in the open-field test after meloxicam administration. J. Am. Assoc. Lab. Anim. Sci. 2022;61:270\u20134.","journal-title":"J. Am. Assoc. Lab. Anim. Sci."},{"key":"3616_CR23","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1007\/s12640-018-9901-7","volume":"34","author":"N Malikowska-Racia","year":"2018","unstructured":"Malikowska-Racia N, Podkowa A, Sa\u0142at K. Phencyclidine and scopolamine for modeling amnesia in rodents: direct comparison with the use of barnes maze test and contextual fear conditioning test in mice. Neurotox. Res. 2018;34:431\u201341.","journal-title":"Neurotox. Res."},{"key":"3616_CR24","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-023-29100-2","volume":"13","author":"S Joshi","year":"2023","unstructured":"Joshi S, Williams CL, Kapur J. Limbic progesterone receptors regulate spatial memory. Sci. Rep. 2023;13:2164.","journal-title":"Sci. Rep."},{"key":"3616_CR25","doi-asserted-by":"publisher","DOI":"10.3791\/60139","author":"CLC Neely","year":"2019","unstructured":"Neely CLC, Pedemonte KA, Boggs KN, Flinn JM. Nest building behavior as an early indicator of behavioral deficits in mice. J. Vis. Exp. 2019. https:\/\/doi.org\/10.3791\/60139","journal-title":"J. Vis. Exp."},{"key":"3616_CR26","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1038\/nprot.2006.170","volume":"1","author":"RM Deacon","year":"2006","unstructured":"Deacon RM. Assessing nest building in mice. Nat. Protoc. 2006;1:1117\u20139.","journal-title":"Nat. Protoc."},{"key":"3616_CR27","unstructured":"Paxinos, G & Franklin, KBJ (eds) The Mouse Brain in Stereotaxic Coordinates. 2nd edn. San Diego: Academic Press; 2001."},{"key":"3616_CR28","doi-asserted-by":"publisher","first-page":"2S","DOI":"10.2967\/jnumed.121.263194","volume":"63","author":"S Minoshima","year":"2022","unstructured":"Minoshima S, Cross D, Thientunyakit T, Foster NL, Drzezga A. 18F-FDG PET imaging in neurodegenerative dementing disorders: Insights into subtype classification, emerging disease categories, and mixed dementia with copathologies. J. Nucl. Med. 2022;63:2S\u201312S.","journal-title":"J. Nucl. Med."},{"key":"3616_CR29","doi-asserted-by":"publisher","DOI":"10.1177\/1536012117704557","volume":"16","author":"RA Coleman","year":"2017","unstructured":"Coleman RA, Liang C, Patel R, Ali S, Mukherjee J. Brain and brown adipose tissue metabolism in transgenic Tg2576 mice models of Alzheimer disease assessed using 18F-FDG PET imaging. Mol. Imaging. 2017;16:1536012117704557.","journal-title":"Mol. Imaging"},{"key":"3616_CR30","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1016\/j.nucmedbio.2013.08.009","volume":"41","author":"MR Mirbolooki","year":"2014","unstructured":"Mirbolooki MR, Upadhyay SK, Constantinescu CC, Pan ML, Mukherjee J. Adrenergic pathway activation enhances brown adipose tissue metabolism: a 18F-FDG PET\/CT study in mice. Nucl. Med. Biol. 2014;41:10\u201316.","journal-title":"Nucl. Med. Biol."},{"key":"3616_CR31","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1681\/ASN.2018090912","volume":"30","author":"H Wu","year":"2019","unstructured":"Wu H, Kirita Y, Donnelly EL, Humphreys BD. Advantages of single-nucleus over single-cell RNA sequencing of adult kidney: rare cell types and novel cell states revealed in fibrosis. J. Am. Soc. Nephrol. 2019;30:23\u201332.","journal-title":"J. Am. Soc. Nephrol."},{"key":"3616_CR32","doi-asserted-by":"publisher","first-page":"527","DOI":"10.1038\/s41587-021-01091-3","volume":"40","author":"D Sun","year":"2022","unstructured":"Sun D, Guan X, Moran AE, Wu LY, Qian DZ, Schedin P, et al. Identifying phenotype-associated subpopulations by integrating bulk and single-cell sequencing data. Nat. Biotechnol. 2022;40:527\u201338.","journal-title":"Nat. Biotechnol."},{"key":"3616_CR33","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/S1470-2045(11)70318-7","volume":"13","author":"R Pirker","year":"2012","unstructured":"Pirker R, Pereira JR, von Pawel J, Krzakowski M, Ramlau R, Park K, et al. EGFR expression as a predictor of survival for first-line chemotherapy plus cetuximab in patients with advanced non-small-cell lung cancer: analysis of data from the phase 3 FLEX study. Lancet Oncol. 2012;13:33\u201342.","journal-title":"Lancet Oncol."},{"key":"3616_CR34","first-page":"1","volume":"2","author":"YX Gong","year":"1994","unstructured":"Gong YX, Ye SQ, Zhang JP. The revised Chinese Webster\u2019s intelligence scale for children. Chin. J. Clin. Psychol. 1994;2:1\u20136.","journal-title":"Chin. J. Clin. Psychol."},{"key":"3616_CR35","doi-asserted-by":"publisher","first-page":"1028","DOI":"10.18632\/aging.100862","volume":"7","author":"FN Velazquez","year":"2015","unstructured":"Velazquez FN, Caputto BL, Boussin FD. c-Fos importance for brain development. Aging. 2015;7:1028\u20139.","journal-title":"Aging"},{"key":"3616_CR36","doi-asserted-by":"publisher","first-page":"687","DOI":"10.3390\/brainsci12060687","volume":"12","author":"F Cruz-Mendoza","year":"2022","unstructured":"Cruz-Mendoza F, Jauregui-Huerta F, Aguilar-Delgadillo A, Garc\u00eda-Estrada J, Luquin S. Immediate early gene c-fos in the brain: focus on glial cells. Brain Sci. 2022;12:687.","journal-title":"Brain Sci."},{"key":"3616_CR37","doi-asserted-by":"publisher","first-page":"38729","DOI":"10.1074\/jbc.M509497200","volume":"280","author":"AR Stankiewicz","year":"2005","unstructured":"Stankiewicz AR, Lachapelle G, Foo CP, Radicioni SM, Mosser DD. Hsp70 inhibits heat-induced apoptosis upstream of mitochondria by preventing Bax translocation. J. Biol. Chem. 2005;280:38729\u201339.","journal-title":"J. Biol. Chem."},{"key":"3616_CR38","doi-asserted-by":"publisher","first-page":"25665","DOI":"10.1074\/jbc.M906383199","volume":"275","author":"CY Li","year":"2000","unstructured":"Li CY, Lee JS, Ko YG, Kim JI, Seo JS. Heat shock protein 70 inhibits apoptosis downstream of cytochrome c release and upstream of caspase-3 activation. J. Biol. Chem. 2000;275:25665\u201371.","journal-title":"J. Biol. Chem."},{"key":"3616_CR39","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1161\/01.STR.0000199057.00365.20","volume":"37","author":"Y Matsumori","year":"2006","unstructured":"Matsumori Y, Northington FJ, Hong SM, Kayama T, Sheldon RA, Vexler ZS, et al. Reduction of caspase-8 and -9 cleavage is associated with increased c-FLIP and increased binding of Apaf-1 and Hsp70 after neonatal hypoxic\/ischemic injury in mice overexpressing Hsp70. Stroke. 2006;37:507\u201312.","journal-title":"Stroke"},{"key":"3616_CR40","doi-asserted-by":"publisher","first-page":"51490","DOI":"10.1074\/jbc.M401314200","volume":"279","author":"R Steel","year":"2004","unstructured":"Steel R, Doherty JP, Buzzard K, Clemons N, Hawkins CJ, Anderson RL. Hsp72 inhibits apoptosis upstream of the mitochondria and not through interactions with Apaf-1. J. Biol. Chem. 2004;279:51490\u20139.","journal-title":"J. Biol. Chem."},{"key":"3616_CR41","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1097\/01.WCB.0000054756.97390.F7","volume":"23","author":"D Tsuchiya","year":"2003","unstructured":"Tsuchiya D, Hong S, Matsumori Y, Shiina H, Kayama T, Swanson RA, et al. Overexpression of rat heat shock protein 70 is associated with reduction of early mitochondrial cytochrome C release and subsequent DNA fragmentation after permanent focal ischemia. J. Cereb. Blood Flow. Metab. 2003;23:718\u201327.","journal-title":"J. Cereb. Blood Flow. Metab."},{"key":"3616_CR42","first-page":"4","volume":"4","author":"BD Wang","year":"2008","unstructured":"Wang BD, Rennert OM, Su YA. Mitochondrial oxidative phosphorylation, obesity and diabetes. Cell Sci. Rev. 2008;4:4.","journal-title":"Cell Sci. Rev."},{"key":"3616_CR43","doi-asserted-by":"publisher","first-page":"2601","DOI":"10.1038\/oby.2008.419","volume":"16","author":"T Takamura","year":"2008","unstructured":"Takamura T, Misu H, Matsuzawa-Nagata N, Sakurai M, Ota T, Shimizu A, et al. Obesity upregulates genes involved in oxidative phosphorylation in livers of diabetic patients. Obesity. 2008;16:2601\u20139.","journal-title":"Obesity"},{"key":"3616_CR44","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2019.105616","volume":"116","author":"CA Hunter","year":"2019","unstructured":"Hunter CA, Kartal F, Koc ZC, Murphy T, Kim JH, Denvir J, et al. Mitochondrial oxidative phosphorylation is impaired in TALLYHO mice, a new obesity and type 2 diabetes animal model. Int. J. Biochem. Cell Biol. 2019;116:105616.","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"3616_CR45","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1002\/path.1619","volume":"204","author":"H Moed","year":"2004","unstructured":"Moed H, Boorsma DM, Tensen CP, Flier J, Jonker MJ, Stoof TJ, et al. Increased CCL27-CCR10 expression in allergic contact dermatitis: implications for local skin memory. J. Pathol. 2004;204:39\u201346.","journal-title":"J. Pathol."},{"key":"3616_CR46","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1002\/ajmg.a.38552","volume":"176","author":"R Kosaki","year":"2018","unstructured":"Kosaki R, Horikawa R, Fujii E, Kosaki K. Biallelic mutations in LARS2 can cause Perrault syndrome type 2 with neurologic symptoms. Am. J. Med. Genet. A. 2018;176:404\u20138.","journal-title":"Am. J. Med. Genet. A"},{"key":"3616_CR47","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2023.1229885","volume":"14","author":"SK Schr\u00f6der","year":"2023","unstructured":"Schr\u00f6der SK, Gasterich N, Weiskirchen S, Weiskirchen R. Lipocalin 2 receptors: facts, fictions, and myths. Front. Immunol. 2023;14:1229885.","journal-title":"Front. Immunol."},{"key":"3616_CR48","doi-asserted-by":"publisher","DOI":"10.1002\/cpz1.919","volume":"3","author":"R Waag","year":"2023","unstructured":"Waag R, Bohacek J. Single-nucleus RNA-sequencing in brain tissue. Curr. Protoc. 2023;3:e919.","journal-title":"Curr. Protoc."},{"key":"3616_CR49","doi-asserted-by":"publisher","first-page":"1017","DOI":"10.1002\/ar.21118","volume":"293","author":"Y Shen","year":"2010","unstructured":"Shen Y, Liu SS, Zhan MY, Luo JH, Zhu LJ. Interleukin-2 enhances dendritic development and spinogenesis in cultured hippocampal neurons. Anat. Rec. 2010;293:1017\u201323.","journal-title":"Anat. Rec."},{"key":"3616_CR50","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1007\/s11481-013-9517-x","volume":"9","author":"PD Pozniak","year":"2014","unstructured":"Pozniak PD, White MK, Khalili K. TNF-\u03b1\/NF-\u03baB signaling in the CNS: possible connection to EPHB2. J. Neuroimmune Pharmacol. 2014;9:133\u201341.","journal-title":"J. Neuroimmune Pharmacol."},{"key":"3616_CR51","doi-asserted-by":"publisher","first-page":"1035","DOI":"10.1016\/j.celrep.2013.06.021","volume":"4","author":"L Roybon","year":"2013","unstructured":"Roybon L, Lamas NJ, Garcia AD, Yang EJ, Sattler R, Lewis VJ, et al. Human stem cell-derived spinal cord astrocytes with defined mature or reactive phenotypes. Cell Rep. 2013;4:1035\u201348.","journal-title":"Cell Rep."},{"key":"3616_CR52","doi-asserted-by":"publisher","first-page":"538","DOI":"10.3390\/jpm13030538","volume":"13","author":"I Battistella","year":"2023","unstructured":"Battistella I, Cutarelli A, Zasso J, Clerici M, Sala C, Marcatili M, et al. Cortical astrocyte progenitors and astrocytes from human pluripotent stem cells. J. Pers. Med. 2023;13:538.","journal-title":"J. Pers. Med."},{"key":"3616_CR53","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.brainresbull.2016.12.013","volume":"136","author":"CR Rose","year":"2018","unstructured":"Rose CR, Ziemens D, Untiet V, Fahlke C. Molecular and cellular physiology of sodium-dependent glutamate transporters. Brain Res. Bull. 2018;136:3\u201316.","journal-title":"Brain Res. Bull."},{"key":"3616_CR54","doi-asserted-by":"publisher","first-page":"1509","DOI":"10.1523\/JNEUROSCI.0544-22.2023","volume":"43","author":"S Chierzi","year":"2023","unstructured":"Chierzi S, Kacerovsky JB, Fok AHK, Lahaie S, Shibi Rosen A, Farmer WT, et al. Astrocytes transplanted during early postnatal development integrate, mature, and survive long term in mouse cortex. J. Neurosci. 2023;43:1509\u201329.","journal-title":"J. Neurosci."},{"key":"3616_CR55","doi-asserted-by":"publisher","first-page":"340","DOI":"10.3174\/ajnr.A5939","volume":"40","author":"MHG Dremmen","year":"2019","unstructured":"Dremmen MHG, Bouhuis RH, Blanken LME, Muetzel RL, Vernooij MW, Marroun HE, et al. Cavum septum pellucidum in the general pediatric population and its relation to surrounding brain structure volumes, cognitive function, and emotional or behavioral problems. AJNR Am. J. Neuroradiol. 2019;40:340\u20136.","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"3616_CR56","first-page":"49","volume":"23","author":"JJ Chen","year":"2014","unstructured":"Chen JJ, Chen CJ, Chang HF, Chen DL, Hsu YC, Chang TP. Prevalence of cavum septum pellucidum and\/or cavum Vergae in brain computed tomographies of Taiwanese. Acta Neurol. Taiwan. 2014;23:49\u201354.","journal-title":"Acta Neurol. Taiwan."},{"key":"3616_CR57","first-page":"137","volume":"24","author":"A Cantani","year":"1989","unstructured":"Cantani A, Bamonte G, Tacconi ML. Mental retardation and EEG abnormalities in Waardenburg\u2019s syndrome: two case reports (EEG anomalies in Waardenburg\u2019s syndrome). Padiatr. Padol. 1989;24:137\u201340.","journal-title":"Padiatr. Padol."},{"key":"3616_CR58","doi-asserted-by":"publisher","first-page":"165","DOI":"10.3109\/13816818709031463","volume":"8","author":"E Kawabata","year":"1987","unstructured":"Kawabata E, Ohba N, Nakamura A, Izumo S, Osame M. Waardenburg syndrome: a variant with neurological involvement. Ophthalmic Paediatr. Genet. 1987;8:165\u201370.","journal-title":"Ophthalmic Paediatr. Genet."},{"key":"3616_CR59","doi-asserted-by":"publisher","first-page":"1274","DOI":"10.1182\/blood.V100.4.1274.h81602001274_1274_1286","volume":"100","author":"J P\u00e9rez-Losada","year":"2002","unstructured":"P\u00e9rez-Losada J, S\u00e1nchez-Mart\u00edn M, Rodr\u00edguez-Garc\u00eda A, S\u00e1nchez ML, Orfao A, Flores T, et al. Zinc-finger transcription factor Slug contributes to the function of the stem cell factor c-kit signaling pathway. Blood. 2002;100:1274\u201386.","journal-title":"Blood"},{"key":"3616_CR60","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1002\/ajmg.a.20345","volume":"122","author":"M S\u00e1nchez-Mart\u00edn","year":"2003","unstructured":"S\u00e1nchez-Mart\u00edn M, P\u00e9rez-Losada J, Rodr\u00edguez-Garc\u00eda A, Gonz\u00e1lez-S\u00e1nchez B, Korf BR, Kuster W, et al. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am. J. Med. Genet. A. 2003;122:125\u201332.","journal-title":"Am. J. Med. Genet. A"},{"key":"3616_CR61","doi-asserted-by":"publisher","first-page":"155","DOI":"10.5607\/en.2014.23.2.155","volume":"23","author":"M Jin","year":"2014","unstructured":"Jin M, Jang E, Suk K. Lipocalin-2 acts as a neuroinflammatogen in lipopolysaccharide-injected mice. Exp. Neurobiol. 2014;23:155\u201362.","journal-title":"Exp. Neurobiol."},{"key":"3616_CR62","doi-asserted-by":"publisher","first-page":"1637","DOI":"10.1111\/jcmm.12538","volume":"19","author":"G Wang","year":"2015","unstructured":"Wang G, Weng YC, Han X, Whaley JD, McCrae KR, Chou WH. Lipocalin-2 released in response to cerebral ischaemia mediates reperfusion injury in mice. J. Cell Mol. Med. 2015;19:1637\u201345.","journal-title":"J. Cell Mol. Med."},{"key":"3616_CR63","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1586\/epr.12.70","volume":"10","author":"MK Jha","year":"2013","unstructured":"Jha MK, Suk K. Glia-based biomarkers and their functional role in the CNS. Expert. Rev. Proteom. 2013;10:43\u201363.","journal-title":"Expert. Rev. Proteom."},{"key":"3616_CR64","doi-asserted-by":"publisher","first-page":"1308","DOI":"10.1016\/j.clinbiochem.2012.06.014","volume":"45","author":"CP Chan","year":"2012","unstructured":"Chan CP, Jiang HL, Leung LY, Wan WM, Cheng NM, Ip WS, et al. Multiple atherosclerosis-related biomarkers associated with short- and long-term mortality after stroke. Clin. Biochem. 2012;45:1308\u201315.","journal-title":"Clin. Biochem."},{"key":"3616_CR65","doi-asserted-by":"publisher","first-page":"3838","DOI":"10.1182\/blood-2013-02-481192","volume":"121","author":"C Karlsson","year":"2013","unstructured":"Karlsson C, Baudet A, Miharada N, Soneji S, Gupta R, Magnusson M, et al. Identification of the chemokine CCL28 as a growth and survival factor for human hematopoietic stem and progenitor cells. Blood. 2013;121:3838\u201342.","journal-title":"Blood"},{"key":"3616_CR66","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1002\/cne.902960402","volume":"296","author":"E Bullitt","year":"1990","unstructured":"Bullitt E. Expression of c-fos-like protein as a marker for neuronal activity following noxious stimulation in the rat. J. Comp. Neurol. 1990;296:517\u201330.","journal-title":"J. Comp. Neurol."},{"key":"3616_CR67","doi-asserted-by":"publisher","first-page":"477","DOI":"10.1016\/0306-4522(94)00355-9","volume":"64","author":"WE Cullinan","year":"1995","unstructured":"Cullinan WE, Herman JP, Battaglia DF, Akil H, Watson SJ. Pattern and time course of immediate early gene expression in rat brain following acute stress. Neuroscience. 1995;64:477\u2013505.","journal-title":"Neuroscience"},{"key":"3616_CR68","doi-asserted-by":"publisher","first-page":"410","DOI":"10.1016\/j.cell.2020.02.055","volume":"181","author":"X Sun","year":"2020","unstructured":"Sun X, Bernstein MJ, Meng M, Rao S, S\u00f8rensen AT, Yao L, et al. Functionally distinct neuronal ensembles within the memory engram. Cell. 2020;181:410\u201323.","journal-title":"Cell"},{"key":"3616_CR69","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1016\/j.conb.2006.09.002","volume":"16","author":"ME Hasselmo","year":"2006","unstructured":"Hasselmo ME. The role of acetylcholine in learning and memory. Curr. Opin. Neurobiol. 2006;16:710\u20135.","journal-title":"Curr. Opin. Neurobiol."},{"key":"3616_CR70","doi-asserted-by":"publisher","first-page":"1898","DOI":"10.1007\/s11064-012-0806-1","volume":"37","author":"T Wang","year":"2012","unstructured":"Wang T, Takikawa Y, Sawara K, Yoshida Y, Suzuki K. Negative regulation of human astrocytes by interferon (IFN) \u03b1 in relation to growth inhibition and impaired glucose utilization. Neurochem. Res. 2012;37:1898\u2013905.","journal-title":"Neurochem. Res."},{"key":"3616_CR71","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1016\/j.jneuroim.2006.02.015","volume":"175","author":"SK Halonen","year":"2006","unstructured":"Halonen SK, Woods T, McInnerney K, Weiss LM. Microarray analysis of IFN-gamma response genes in astrocytes. J. Neuroimmunol. 2006;175:19\u201330.","journal-title":"J. Neuroimmunol."},{"key":"3616_CR72","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1016\/S0165-5728(99)00187-3","volume":"100","author":"NJ Van Wagoner","year":"1999","unstructured":"Van Wagoner NJ, Benveniste EN. Interleukin-6 expression and regulation in astrocytes. J. Neuroimmunol. 1999;100:124\u201339.","journal-title":"J. Neuroimmunol."},{"key":"3616_CR73","doi-asserted-by":"publisher","DOI":"10.1002\/advs.202412556","volume":"12","author":"SY Shen","year":"2025","unstructured":"Shen SY, Liang LF, Shi TL, Shen ZQ, Yin SY, Zhang JR, et al. Microglia-derived interleukin-6 triggers astrocyte apoptosis in the hippocampus and mediates depression-like behavior. Adv. Sci. 2025;12:e2412556.","journal-title":"Adv. Sci."},{"key":"3616_CR74","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1016\/S0166-2236(98)01349-6","volume":"22","author":"A Araque","year":"1999","unstructured":"Araque A, Parpura V, Sanzgiri RP, Haydon PG. Tripartite synapses: glia, the unacknowledged partner. Trends Neurosci. 1999;22:208\u201315.","journal-title":"Trends Neurosci."},{"key":"3616_CR75","doi-asserted-by":"publisher","first-page":"744","DOI":"10.1038\/369744a0","volume":"369","author":"V Parpura","year":"1994","unstructured":"Parpura V, Basarsky TA, Liu F, Jeftinija K, Jeftinija S, Haydon PG. Glutamate-mediated astrocyte-neuron signalling. Nature. 1994;369:744\u20137.","journal-title":"Nature"},{"key":"3616_CR76","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1007\/978-1-4939-9068-9_1","volume":"1938","author":"U Hasan","year":"2019","unstructured":"Hasan U, Singh SK. The astrocyte-neuron interface: an overview on molecular and cellular dynamics controlling formation and maintenance of the tripartite synapse. Methods Mol. Biol. 2019;1938:3\u201318.","journal-title":"Methods Mol. Biol."},{"key":"3616_CR77","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/s41386-022-01338-w","volume":"48","author":"A Kruyer","year":"2023","unstructured":"Kruyer A, Kalivas PW, Scofield MD. Astrocyte regulation of synaptic signaling in psychiatric disorders. Neuropsychopharmacology. 2023;48:21\u201336.","journal-title":"Neuropsychopharmacology"},{"key":"3616_CR78","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropharm.2021.108759","volume":"198","author":"SI Hong","year":"2021","unstructured":"Hong SI, Kang S, Baker M, Choi DS. Astrocyte-neuron interaction in the dorsal striatum-pallidal circuits and alcohol-seeking behaviors. Neuropharmacology. 2021;198:108759.","journal-title":"Neuropharmacology"},{"key":"3616_CR79","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1038\/s41586-023-05927-7","volume":"616","author":"JS Soto","year":"2023","unstructured":"Soto JS, Jami-Alahmadi Y, Chacon J, Moye SL, Diaz-Castro B, Wohlschlegel JA, et al. Astrocyte-neuron subproteomes and obsessive-compulsive disorder mechanisms. Nature. 2023;616:764\u201373.","journal-title":"Nature"},{"key":"3616_CR80","doi-asserted-by":"publisher","first-page":"2957","DOI":"10.1093\/brain\/awad037","volume":"146","author":"MH Nam","year":"2023","unstructured":"Nam MH, Ko HY, Kim D, Lee S, Park YM, Hyeon SJ, et al. Visualizing reactive astrocyte-neuron interaction in Alzheimer\u2019s disease using 11C-acetate and 18F-FDG. Brain. 2023;146:2957\u201374.","journal-title":"Brain"},{"key":"3616_CR81","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":"3616_CR82","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.643546","volume":"12","author":"S Zhang","year":"2021","unstructured":"Zhang S, Xu H, Tian Y, Liu D, Hou X, Zeng B, et al. High genetic heterogeneity in Chinese patients with Waardenburg syndrome revealed by next-generation sequencing. Front. Genet. 2021;12:643546.","journal-title":"Front. Genet."},{"key":"3616_CR83","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1016\/j.gpb.2021.08.001","volume":"19","author":"National Genomics Data Center Members and Partners.","year":"2021","unstructured":"National Genomics Data Center Members and Partners. The genome sequence archive family: toward explosive data growth and diverse data types. Genomics Proteom. Bioinforma. 2021;19:578\u201383.","journal-title":"Genomics Proteom. Bioinforma."},{"key":"3616_CR84","doi-asserted-by":"publisher","first-page":"D27","DOI":"10.1093\/nar\/gkab951","volume":"50","author":"National Genomics Data Center Members and Partners.","year":"2022","unstructured":"National Genomics Data Center Members and Partners. Database resources of the National Genomics Data Center, China National Center for bioinformation in 2022. Nucleic Acids Res. 2022;50:D27\u2013D38.","journal-title":"Nucleic Acids Res."}],"container-title":["Translational Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41398-025-03616-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41398-025-03616-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41398-025-03616-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T08:04:07Z","timestamp":1760083447000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41398-025-03616-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,10]]},"references-count":84,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["3616"],"URL":"https:\/\/doi.org\/10.1038\/s41398-025-03616-9","relation":{},"ISSN":["2158-3188"],"issn-type":[{"type":"electronic","value":"2158-3188"}],"subject":[],"published":{"date-parts":[[2025,10,10]]},"assertion":[{"value":"19 January 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 August 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 September 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 October 2025","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"}}],"article-number":"391"}}