{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T03:03:52Z","timestamp":1784862232367,"version":"3.55.0"},"reference-count":86,"publisher":"Cambridge University Press (CUP)","license":[{"start":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T00:00:00Z","timestamp":1748476800000},"content-version":"unspecified","delay-in-days":148,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Expert Rev. Mol. Med."],"published-print":{"date-parts":[[2025]]},"abstract":"<jats:title>Abstract<\/jats:title>\n\t  <jats:sec id=\"S1462399425000122_sec1\">\n\t    <jats:title>Background<\/jats:title>\n\t    <jats:p>Retinoic acid-induced 1 (<jats:italic>RAI1<\/jats:italic>) is a dosage-sensitive gene implicated in a range of rare neuropsychiatric diseases.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S1462399425000122_sec2\" sec-type=\"methods\">\n\t    <jats:title>Methods<\/jats:title>\n\t    <jats:p>This review provides a comprehensive overview of <jats:italic>RAI1\u2019s<\/jats:italic> role, integrating both clinical and basic research on Smith\u2013Magenis syndrome (SMS) and Potocki\u2013Lupski syndrome (PTLS) while also summarising research progress on its involvement in spinocerebellar ataxia (SCA), autism spectrum disorder (ASD), schizophrenia, bipolar disorder and major depression. A systematic review of the literature was conducted using PubMed and EMBASE, following the PRISMA guidelines, with the protocol registered in PROSPERO (CRD42023474165).<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S1462399425000122_sec3\" sec-type=\"results\">\n\t    <jats:title>Results<\/jats:title>\n\t    <jats:p>A total of 99 eligible studies on <jats:italic>RAI1<\/jats:italic> were included. We presented detailed characterisations of SMS and PTLS patients, emphasising the crucial role of <jats:italic>RAI1<\/jats:italic> haploinsufficiency and overexpression in their pathogenesis. Additionally, we summarised research progress on <jats:italic>RAI1<\/jats:italic> in SCA, ASD, schizophrenia, bipolar disorder and major depression. Integrating findings from animal studies, particularly those examining the regulatory mechanisms of <jats:italic>RAI1<\/jats:italic> in critical phenotypes, such as body weight, sleep and epilepsy, underscores the precise regulation of <jats:italic>RAI1<\/jats:italic> expression in maintaining various nervous system functions.<\/jats:p>\n\t  <\/jats:sec>\n\t  <jats:sec id=\"S1462399425000122_sec4\" sec-type=\"conclusions\">\n\t    <jats:title>Conclusions<\/jats:title>\n\t    <jats:p>Overall, this review contributes to the identification of <jats:italic>RAI1<\/jats:italic>-related neuropsychiatric diseases, with a particular emphasis on enhancing clinical diagnosis of SMS and PTLS in developing countries.<\/jats:p>\n\t  <\/jats:sec>","DOI":"10.1017\/erm.2025.12","type":"journal-article","created":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T08:21:12Z","timestamp":1748506872000},"update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":5,"title":["Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review"],"prefix":"10.1017","volume":"27","author":[{"given":"Tianmi","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dejiang","family":"Pang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyu","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0947-1151","authenticated-orcid":false,"given":"Huifang","family":"Shang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"56","published-online":{"date-parts":[[2025,5,29]]},"reference":[{"key":"S1462399425000122_r49","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62740"},{"key":"S1462399425000122_r50","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-022-01143-5"},{"key":"S1462399425000122_r70","doi-asserted-by":"publisher","DOI":"10.1111\/ene.13954"},{"key":"S1462399425000122_r28","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0022861"},{"key":"S1462399425000122_r77","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.90333"},{"key":"S1462399425000122_r79","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-024-12222-6"},{"key":"S1462399425000122_r60","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq317"},{"key":"S1462399425000122_r78","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2020.108002"},{"key":"S1462399425000122_r25","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.02.001"},{"key":"S1462399425000122_r5","doi-asserted-by":"publisher","DOI":"10.1086\/512864"},{"key":"S1462399425000122_r54","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.21"},{"key":"S1462399425000122_r55","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002713"},{"key":"S1462399425000122_r67","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-8-126"},{"key":"S1462399425000122_r81","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29654"},{"key":"S1462399425000122_r8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.12.1753"},{"key":"S1462399425000122_r15","doi-asserted-by":"publisher","DOI":"10.1038\/s41419-022-05410-7"},{"key":"S1462399425000122_r68","doi-asserted-by":"publisher","DOI":"10.1016\/S0304-3940(03)00436-1"},{"key":"S1462399425000122_r74","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-022-04556-w"},{"key":"S1462399425000122_r2","doi-asserted-by":"publisher","DOI":"10.3390\/genes13020335"},{"key":"S1462399425000122_r34","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.10.003"},{"key":"S1462399425000122_r26","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33844"},{"key":"S1462399425000122_r21","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30461"},{"key":"S1462399425000122_r56","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt568"},{"key":"S1462399425000122_r59","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2022.102728"},{"key":"S1462399425000122_r63","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.23292"},{"key":"S1462399425000122_r84","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2019.10.017"},{"key":"S1462399425000122_r23","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31689"},{"key":"S1462399425000122_r83","doi-asserted-by":"publisher","DOI":"10.1016\/j.jad.2014.03.006"},{"key":"S1462399425000122_r17","volume-title":"Joanna Briggs Institute Reviewers\u2019 Manual","year":"2016"},{"key":"S1462399425000122_r39","doi-asserted-by":"publisher","DOI":"10.3390\/jpm14090901"},{"key":"S1462399425000122_r13","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1806796115"},{"key":"S1462399425000122_r24","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31636"},{"key":"S1462399425000122_r69","doi-asserted-by":"publisher","DOI":"10.1007\/s12311-015-0666-8"},{"key":"S1462399425000122_r33","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2014-4215"},{"key":"S1462399425000122_r43","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36742"},{"key":"S1462399425000122_r27","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34247"},{"key":"S1462399425000122_r4","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000095625.14160.AB"},{"key":"S1462399425000122_r19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30290"},{"key":"S1462399425000122_r20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.031211"},{"key":"S1462399425000122_r6","doi-asserted-by":"publisher","DOI":"10.1038\/ng1126"},{"key":"S1462399425000122_r35","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37602"},{"key":"S1462399425000122_r36","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1703-5"},{"key":"S1462399425000122_r45","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37989"},{"key":"S1462399425000122_r58","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddab245"},{"key":"S1462399425000122_r31","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36287"},{"key":"S1462399425000122_r71","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0005324"},{"key":"S1462399425000122_r76","first-page":"25","article-title":"Rai1 haploinsufficiency is associated with social abnormalities in mice","volume":"6","author":"Rao","year":"2017","journal-title":"Biology (Basel)"},{"key":"S1462399425000122_r29","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35399"},{"key":"S1462399425000122_r37","first-page":"31","article-title":"A rare De novo RAI1 gene mutation affecting BDNF-enhancer-driven transcription activity associated with autism and atypical Smith\u2013Magenis syndrome presentation","volume":"7","author":"Abad","year":"2018","journal-title":"Biology (Basel)"},{"key":"S1462399425000122_r73","doi-asserted-by":"publisher","DOI":"10.3390\/ijms16047627"},{"key":"S1462399425000122_r12","doi-asserted-by":"publisher","DOI":"10.1055\/s-0037-1599147"},{"key":"S1462399425000122_r11","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2016.09.019"},{"key":"S1462399425000122_r64","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.167"},{"key":"S1462399425000122_r38","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62907"},{"key":"S1462399425000122_r66","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awu174"},{"key":"S1462399425000122_r85","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2008.01135.x"},{"key":"S1462399425000122_r9","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2022.10.009"},{"key":"S1462399425000122_r30","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.04.001"},{"key":"S1462399425000122_r47","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61789"},{"key":"S1462399425000122_r52","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh044"},{"key":"S1462399425000122_r80","doi-asserted-by":"publisher","DOI":"10.3390\/ijms25158447"},{"key":"S1462399425000122_r7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32956"},{"key":"S1462399425000122_r32","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-015-0179-7"},{"key":"S1462399425000122_r61","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.013"},{"key":"S1462399425000122_r57","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0105077"},{"key":"S1462399425000122_r3","doi-asserted-by":"publisher","DOI":"10.1055\/s-0035-1564443"},{"key":"S1462399425000122_r82","doi-asserted-by":"publisher","DOI":"10.1016\/j.psychres.2010.11.018"},{"key":"S1462399425000122_r14","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2210122119"},{"key":"S1462399425000122_r1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399411001827"},{"key":"S1462399425000122_r10","doi-asserted-by":"publisher","DOI":"10.2147\/NDT.S72536"},{"key":"S1462399425000122_r44","doi-asserted-by":"publisher","DOI":"10.1159\/000357359"},{"key":"S1462399425000122_r22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31510"},{"key":"S1462399425000122_r62","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35941"},{"key":"S1462399425000122_r18","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1187-6"},{"key":"S1462399425000122_r42","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32195"},{"key":"S1462399425000122_r72","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102554"},{"key":"S1462399425000122_r86","doi-asserted-by":"publisher","DOI":"10.1002\/cne.25589"},{"key":"S1462399425000122_r16","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.n71"},{"key":"S1462399425000122_r40","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-004-1460-7"},{"key":"S1462399425000122_r48","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2021.698629"},{"key":"S1462399425000122_r53","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi085"},{"key":"S1462399425000122_r65","doi-asserted-by":"publisher","DOI":"10.1038\/s41572-019-0074-3"},{"key":"S1462399425000122_r75","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm128"},{"key":"S1462399425000122_r51","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.10.3646-3655.2003"},{"key":"S1462399425000122_r41","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.05.004"},{"key":"S1462399425000122_r46","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1055\/s-0039-1700965","article-title":"Smith\u2013Magenis syndrome: clues in the clinic","volume":"9","author":"Akkus","year":"2020","journal-title":"Journal of Pediatric Genetics"}],"container-title":["Expert Reviews in Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cambridge.org\/core\/services\/aop-cambridge-core\/content\/view\/S1462399425000122","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,29]],"date-time":"2025-05-29T08:21:13Z","timestamp":1748506873000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cambridge.org\/core\/product\/identifier\/S1462399425000122\/type\/journal_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"references-count":86,"alternative-id":["S1462399425000122"],"URL":"https:\/\/doi.org\/10.1017\/erm.2025.12","relation":{},"ISSN":["1462-3994"],"issn-type":[{"value":"1462-3994","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]},"assertion":[{"value":"\u00a9 The Author(s), 2025. Published by Cambridge University Press","name":"copyright","label":"Copyright","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http:\/\/creativecommons.org\/licenses\/by\/4.0), which permits unrestricted re-use, distribution and reproduction, provided the original article is properly cited.","name":"license","label":"License","group":{"name":"copyright_and_licensing","label":"Copyright and Licensing"}},{"value":"This content has been made available to all.","name":"free","label":"Free to read"}],"article-number":"e17"}}