{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T03:59:12Z","timestamp":1790481552990,"version":"4.1.0"},"reference-count":64,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T00:00:00Z","timestamp":1654819200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T00:00:00Z","timestamp":1654819200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["ME 3696\/3-1"],"award-info":[{"award-number":["ME 3696\/3-1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Transl Psychiatry"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Prader-Willi syndrome (PWS) is a rare neurodevelopmental disorder caused by a loss of usually paternally expressed, maternally imprinted genes located on chromosome 15q11-q13. Individuals with PWS display a specific behavioral phenotype and have a higher susceptibility than the general population for certain psychiatric conditions, especially psychosis. An impairment of the oxytocin system has been described in Prader-Willi syndrome, but has not yet been investigated in detail on the epigenetic level. Recent studies have pointed out altered methylation patterns of the oxytocin receptor gene (\n                    <jats:italic>OXTR<\/jats:italic>\n                    ) in various psychiatric disorders, including psychosis. In this study, we investigated methylation rates of CpG dinucleotides in the promoter region of the oxytocin receptor gene via bisulfite-sequencing using DNA extracted from peripheral blood samples of 31 individuals with PWS and 14 controls matched for age, sex, and BMI. Individuals with PWS show significantly lower methylation in the intron 1 region of the\n                    <jats:italic>OXTR<\/jats:italic>\n                    than neurotypical controls (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.012). Furthermore, male PWS subjects with psychosis show significantly lower methylation of the\n                    <jats:italic>OXTR<\/jats:italic>\n                    exon 1 region than those without psychosis (\n                    <jats:italic>p<\/jats:italic>\n                    \u2009=\u20090.002). Transcription factor binding site analysis revealed E2F1 as a transcription factor potentially binding to the exon 1 region. E2F1 is physiologically regulated by\n                    <jats:italic>Necdin<\/jats:italic>\n                    , an anti-apoptotic protein whose corresponding gene is located within the PWS locus. This study provides evidence of a disruption of the Oxytocin system on an epigenetic level in PWS in general and in individuals with PWS and psychosis.\n                  <\/jats:p>","DOI":"10.1038\/s41398-022-02014-9","type":"journal-article","created":{"date-parts":[[2022,6,10]],"date-time":"2022-06-10T13:03:04Z","timestamp":1654866184000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Distinct promoter regions of the oxytocin receptor gene are hypomethylated in Prader-Willi syndrome and in Prader-Willi syndrome associated psychosis"],"prefix":"10.1038","volume":"12","author":[{"given":"Hannah M.","family":"Heseding","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kirsten","family":"Jahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4808-4624","authenticated-orcid":false,"given":"Christian K.","family":"Eberlein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jelte","family":"Wieting","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah B.","family":"Maier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phileas J.","family":"Proskynitopoulos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Glahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefan","family":"Bleich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helge","family":"Frieling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8759-8660","authenticated-orcid":false,"given":"Maximilian","family":"Deest","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,6,10]]},"reference":[{"key":"2014_CR1","doi-asserted-by":"publisher","first-page":"207","DOI":"10.2174\/1573396315666190716120925","volume":"15","author":"MG Butler","year":"2019","unstructured":"Butler MG, Miller JL, Forster JL. Prader-Willi Syndrome\u2014clinical genetics, diagnosis and treatment approaches: an update. Curr Pediatr Rev. 2019;15:207\u201344.","journal-title":"Curr Pediatr Rev."},{"key":"2014_CR2","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1002\/ca.22686","volume":"29","author":"BJ Hurren","year":"2016","unstructured":"Hurren BJ, Flack NAMS. Prader\u2013Willi Syndrome: a spectrum of anatomical and clinical features. Clin Anat. 2016;29:590\u2013605.","journal-title":"Clin Anat"},{"key":"2014_CR3","doi-asserted-by":"crossref","unstructured":"Correa-da-Silva F, Fliers E, Swaab DF, Yi CX. Hypothalamic neuropeptides and neurocircuitries in Prader Willi syndrome. J Neuroendocrinol. 2021;33:e12994.","DOI":"10.1111\/jne.12994"},{"key":"2014_CR4","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1007\/s40618-015-0312-9","volume":"38","author":"MA Angulo","year":"2015","unstructured":"Angulo MA, Butler MG, Cataletto ME. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest. 2015;38:1249\u201363.","journal-title":"J Endocrinol Invest."},{"key":"2014_CR5","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1038\/gim.0b013e31822bead0","volume":"14","author":"SB Cassidy","year":"2012","unstructured":"Cassidy SB, Schwartz S, Miller JL, Driscoll DJ. Prader-Willi syndrome. Genet Med. 2012;14:10\u201326.","journal-title":"Genet Med."},{"key":"2014_CR6","first-page":"529","volume":"35","author":"A Kabasakalian","year":"2018","unstructured":"Kabasakalian A, Ferretti CJ, Hollander E. Oxytocin and Prader-Willi syndrome. Curr Top. Behav Neurosci. 2018;35:529\u201357.","journal-title":"Behav Neurosci."},{"key":"2014_CR7","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/S0074-7742(05)72007-9","volume":"72","author":"WMA Verhoeven","year":"2006","unstructured":"Verhoeven WMA, Tuinier S. Prader-Willi Syndrome: atypical psychoses and motor dysfunctions. Int Rev Neurobiol. 2006;72:119\u201330.","journal-title":"Int Rev Neurobiol."},{"key":"2014_CR8","doi-asserted-by":"publisher","first-page":"2180","DOI":"10.1002\/ajmg.a.36615","volume":"164","author":"H Ogata","year":"2014","unstructured":"Ogata H, Ihara H, Murakami N, Gito M, Kido Y, Nagai T. Autism spectrum disorders and hyperactive\/impulsive behaviors in Japanese patients with Prader-Willi syndrome: A comparison between maternal uniparental disomy and deletion cases. Am J Med Genet Part A. 2014;164:2180\u20136.","journal-title":"Am J Med Genet Part A."},{"key":"2014_CR9","doi-asserted-by":"publisher","first-page":"1089","DOI":"10.1111\/j.1469-7610.2005.01520.x","volume":"46","author":"KM Milner","year":"2005","unstructured":"Milner KM, Craig EE, Thompson RJ, Veltman MW, Thomas NS, Roberts S, et al. Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype. J Child Psychol Psychiatry. 2005;46:1089\u201396.","journal-title":"J Child Psychol Psychiatry."},{"key":"2014_CR10","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/s11689-017-9200-2","volume":"5","author":"EM Dykens","year":"2017","unstructured":"Dykens EM, Roof E, Hunt-Hawkins H, Dankner N, Lee EB, Shivers CM, et al. Diagnoses and characteristics of autism spectrum disorders in children with Prader-Willi syndrome. J Neurodev Disord 2017;5:18.","journal-title":"J Neurodev Disord"},{"key":"2014_CR11","first-page":"559","volume":"35","author":"E Andari","year":"2018","unstructured":"Andari E, Hurlemann R, Young LJ. A precision medicine approach to oxytocin trials. Curr top. Behav Neurosci. 2018;35:559\u201390.","journal-title":"Behav Neurosci"},{"key":"2014_CR12","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1007\/s11154-013-9260-x","volume":"14","author":"JE Blevins","year":"2013","unstructured":"Blevins JE, Ho JM. Role of oxytocin signaling in the regulation of body weight. Rev Endocr Metab Disord. 2013;14:311\u201329.","journal-title":"Rev Endocr Metab Disord."},{"key":"2014_CR13","doi-asserted-by":"publisher","first-page":"4999","DOI":"10.1523\/JNEUROSCI.5538-09.2010","volume":"30","author":"R Hurlemann","year":"2010","unstructured":"Hurlemann R, Patin A, Onur OA, Cohen MX, Baumgartner T, Metzler S, et al. Oxytocin enhances amygdala-dependent, socially reinforced learning and emotional empathy in humans. J Neurosci. 2010;30:4999\u20135007.","journal-title":"J Neurosci."},{"key":"2014_CR14","first-page":"573","volume":"80","author":"DF Swaab","year":"1995","unstructured":"Swaab DF, Purba JS, Hofman MA. Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (Putative satiety cells) in prader-Willi syndrome: a study of five cases*. J Clin Endocrinol Metab. 1995;80:573\u20139.","journal-title":"J Clin Endocrinol Metab."},{"key":"2014_CR15","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/S1096-6374(03)00077-7","volume":"13","author":"C H\u00f6ybye","year":"2003","unstructured":"H\u00f6ybye C, Barkeling B, Espelund U, Petersson M, Thor\u00e9n M. Peptides associated with hyperphagia in adults with Prader-Willi syndrome before and during GH treatment. Growth Horm IGF Res. 2003;13:322\u20137.","journal-title":"Growth Horm IGF Res."},{"key":"2014_CR16","doi-asserted-by":"publisher","first-page":"594","DOI":"10.1002\/ajmg.a.37488","volume":"170","author":"L Johnson","year":"2016","unstructured":"Johnson L, Manzardo AM, Miller JL, Driscoll DJ, Butler MG. Elevated plasma oxytocin levels in children with Prader-Willi syndrome compared with healthy unrelated siblings. Am J Med Genet Part A. 2016;170:594\u2013601.","journal-title":"Am J Med Genet Part A."},{"key":"2014_CR17","doi-asserted-by":"publisher","first-page":"4895","DOI":"10.1093\/hmg\/ddq424","volume":"19","author":"F Schaller","year":"2010","unstructured":"Schaller F, Watrin F, Sturny R, Massacrier A, Szepetowski P, Muscatelli F. A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene. Hum Mol Genet. 2010;19:4895\u2013905.","journal-title":"Hum Mol Genet"},{"key":"2014_CR18","doi-asserted-by":"publisher","first-page":"3101","DOI":"10.1093\/hmg\/9.20.3101","volume":"9","author":"F Muscatelli","year":"2000","unstructured":"Muscatelli F, Abrous N, Massacrier A, Boccaccio I, Le Moal M, Cau P, et al. Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum Mol Genet. 2000;9:3101\u201310.","journal-title":"Hum Mol Genet."},{"key":"2014_CR19","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1016\/j.schres.2014.09.006","volume":"159","author":"MC Davis","year":"2014","unstructured":"Davis MC, Horan WP, Nurmi EL, Rizzo S, Li W, Sugar CA, et al. Associations between oxytocin receptor genotypes and social cognitive performance in individuals with schizophrenia. Schizophr Res. 2014;159:353\u20137.","journal-title":"Schizophr Res."},{"key":"2014_CR20","doi-asserted-by":"publisher","first-page":"500","DOI":"10.3109\/15622975.2012.677547","volume":"14","author":"C Montag","year":"2013","unstructured":"Montag C, Brockmann EM, Bayerl M, Rujescu D, M\u00fcller DJ, Gallinat J. Oxytocin and oxytocin receptor gene polymorphisms and risk for schizophrenia: a case-control study. World J Biol Psychiatry. 2013;14:500\u20138.","journal-title":"World J Biol Psychiatry."},{"key":"2014_CR21","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1007\/s11689-010-9071-2","volume":"3","author":"DB Campbell","year":"2011","unstructured":"Campbell DB, Datta D, Jones ST, Lee EB, Sutcliffe JS, Hammock EAD, et al. Association of oxytocin receptor (OXTR) gene variants with multiple phenotype domains of autism spectrum disorder. J Neurodev Disord. 2011;3:101\u201312.","journal-title":"J Neurodev Disord."},{"key":"2014_CR22","doi-asserted-by":"publisher","unstructured":"Maud C, Ryan J, McIntosh JE, Olsson CA. The role of oxytocin receptor gene (OXTR) DNA methylation (DNAm) in human social and emotional functioning: a systematic narrative review. BMC Psychiatry. 2018. https:\/\/doi.org\/10.1186\/s12888-018-1740-9.","DOI":"10.1186\/s12888-018-1740-9"},{"key":"2014_CR23","doi-asserted-by":"crossref","unstructured":"Gregory SG, Connelly JJ, Towers AJ, Johnson J, Biscocho D, Markunas CA, et al. Genomic and epigenetic evidence for oxytocin receptor deficiency in autism. BMC Med. 2009;7:62.","DOI":"10.1186\/1741-7015-7-62"},{"key":"2014_CR24","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1002\/aur.1681","volume":"10","author":"J Rijlaarsdam","year":"2017","unstructured":"Rijlaarsdam J, van IJzendoorn MH, Verhulst FC, Jaddoe VWV, Felix JF, Tiemeier H, et al. Prenatal stress exposure, oxytocin receptor gene (OXTR) methylation, and child autistic traits: the moderating role of OXTR rs53576 genotype. Autism Res. 2017;10:430\u20138.","journal-title":"Autism Res."},{"key":"2014_CR25","doi-asserted-by":"publisher","DOI":"10.1186\/s12868-016-0313-4","volume":"17","author":"C Cappi","year":"2016","unstructured":"Cappi C, Diniz JB, Requena GL, Louren\u00e7o T, Lisboa BCG, Batistuzzo MC, et al. Epigenetic evidence for involvement of the oxytocin receptor gene in obsessive-compulsive disorder. BMC Neurosci. 2016;17:79.","journal-title":"BMC Neurosci."},{"key":"2014_CR26","doi-asserted-by":"publisher","first-page":"1150","DOI":"10.1038\/s41386-020-0610-6","volume":"45","author":"E Andari","year":"2020","unstructured":"Andari E, Nishitani S, Kaundinya G, Caceres GA, Morrier MJ, Ousley O, et al. Epigenetic modification of the oxytocin receptor gene: implications for autism symptom severity and brain functional connectivity. Neuropsychopharmacology. 2020;45:1150\u20138.","journal-title":"Neuropsychopharmacology."},{"key":"2014_CR27","doi-asserted-by":"publisher","first-page":"e88673","DOI":"10.1371\/journal.pone.0088673","volume":"9","author":"YR Kim","year":"2014","unstructured":"Kim YR, Kim JH, Kim MJ, Treasure J. Differential methylation of the oxytocin receptor gene in patients with anorexia nervosa: a pilot study. PLoS One. 2014;9:e88673.","journal-title":"PLoS One."},{"key":"2014_CR28","doi-asserted-by":"publisher","first-page":"1071","DOI":"10.1038\/mp.2014.95","volume":"19","author":"CAM Cecil","year":"2014","unstructured":"Cecil CAM, Lysenko LJ, Jaffee SR, Pingault JB, Smith RG, Relton CL, et al. Environmental risk, Oxytocin Receptor Gene (OXTR) methylation and youth callous-unemotional traits: a 13-year longitudinal study. Mol Psychiatry. 2014;19:1071\u20137.","journal-title":"Mol Psychiatry."},{"key":"2014_CR29","doi-asserted-by":"publisher","first-page":"3308","DOI":"10.1073\/pnas.1422096112","volume":"112","author":"MH Puglia","year":"2015","unstructured":"Puglia MH, Lillard TS, Morris JP, Connelly JJ. Epigenetic modification of the oxytocin receptor gene influences the perception of anger and fear in the human brain. Proc Natl Acad Sci USA. 2015;112:3308\u201313.","journal-title":"Proc Natl Acad Sci USA"},{"key":"2014_CR30","first-page":"141","volume":"1","author":"LH Rubin","year":"2016","unstructured":"Rubin LH, Connelly JJ, Reilly JL, Carter CS, Drogos LL, Pournajafi-Nazarloo H, et al. Sex and diagnosis specific associations between DNA methylation of the oxytocin receptor gene with emotion processing and temporal-limbic and prefrontal brain volumes in psychotic disorders HHS Public Access. Biol Psychiatry Cogn Neurosci Neuroimaging. 2016;1:141\u201351.","journal-title":"Biol Psychiatry Cogn Neurosci Neuroimaging."},{"key":"2014_CR31","doi-asserted-by":"publisher","first-page":"790","DOI":"10.1002\/ajmg.a.62041","volume":"185","author":"M Deest","year":"2021","unstructured":"Deest M, Jakob MM, Seifert J, Bleich S, Frieling H, Eberlein C. Sertraline as a treatment option for temper outbursts in Prader\u2013Willi syndrome. Am J Med Genet Part A. 2021;185:790\u20137.","journal-title":"Am J Med Genet Part A."},{"key":"2014_CR32","doi-asserted-by":"publisher","unstructured":"Deest M, Buchholz V, Jahn K, Eberlein C, Bleich S, Frieling H. Hypomethylation of monoamine oxidase A promoter\/exon 1 region is associated with temper outbursts in Prader-Willi syndrome. J Psychiatr Res. 2021. https:\/\/doi.org\/10.1016\/J.JPSYCHIRES.2021.11.024.","DOI":"10.1016\/J.JPSYCHIRES.2021.11.024"},{"key":"2014_CR33","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1016\/S2215-0366(21)00167-X","volume":"8","author":"E Sonuga-Barke","year":"2021","unstructured":"Sonuga-Barke E, Thapar A. The neurodiversity concept: is it helpful for clinicians and scientists? Lancet Psychiatry. 2021;8:559\u201361.","journal-title":"Lancet Psychiatry."},{"key":"2014_CR34","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.plrev.2016.11.002","volume":"20","author":"N Masataka","year":"2017","unstructured":"Masataka N. Implications of the idea of neurodiversity for understanding the origins of developmental disorders. Phys Life Rev. 2017;20:85\u2013108.","journal-title":"Phys Life Rev."},{"key":"2014_CR35","doi-asserted-by":"publisher","first-page":"3005","DOI":"10.1093\/bioinformatics\/bth346","volume":"20","author":"J Lewin","year":"2004","unstructured":"Lewin J, Schmitt AO, Adorj\u00e1n P, Hildmann T, Piepenbrock C. Quantitative DNA methylation analysis based on four-dye trace data from direct sequencing of PCR amplificates. Bioinformatics. 2004;20:3005\u201312.","journal-title":"Bioinformatics."},{"key":"2014_CR36","doi-asserted-by":"publisher","first-page":"3401","DOI":"10.1016\/j.celrep.2018.03.018","volume":"22","author":"EG Bochukova","year":"2018","unstructured":"Bochukova EG, Lawler K, Croizier S, Keogh JM, Patel N, Strohbehn G, et al. A Transcriptomic signature of the hypothalamic response to fasting and BDNF deficiency in Prader-Willi syndrome. Cell Rep. 2018;22:3401\u20138.","journal-title":"Cell Rep."},{"key":"2014_CR37","doi-asserted-by":"publisher","first-page":"e92","DOI":"10.1111\/j.1755-5949.2010.00154.x","volume":"16","author":"TA Baskerville","year":"2010","unstructured":"Baskerville TA, Douglas AJ. Dopamine and oxytocin interactions underlying behaviors: potential contributions to behavioral disorders. CNS Neurosci Ther. 2010;16:e92\u2013123.","journal-title":"CNS Neurosci Ther."},{"key":"2014_CR38","doi-asserted-by":"publisher","unstructured":"Salles J, Eddiry S, Lacassagne E, Laurier V, Molinas C, Bieth \u00c9, et al. Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory. Clin Epigenetics. 2021. https:\/\/doi.org\/10.1186\/s13148-021-01143-0.","DOI":"10.1186\/s13148-021-01143-0"},{"key":"2014_CR39","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1006\/bbrc.2001.6024","volume":"289","author":"C Kusui","year":"2001","unstructured":"Kusui C, Kimura T, Ogita K, Nakamura H, Matsumura Y, Koyama M, et al. DNA methylation of the human oxytocin receptor gene promoter regulates tissue-specific gene suppression. Biochem Biophys Res Commun. 2001;289:681\u20136.","journal-title":"Biochem Biophys Res Commun."},{"key":"2014_CR40","doi-asserted-by":"crossref","unstructured":"Danoff JS, Wroblewski KL, Graves AJ, Quinn GC, Perkeybile AM, Kenkel WM, et al. Genetic, epigenetic, and environmental factors controlling oxytocin receptor gene expression. Clin Epigenetics. 2021;13:23.","DOI":"10.1186\/s13148-021-01017-5"},{"key":"2014_CR41","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1002\/ajmg.a.31606","volume":"143","author":"DC Bittel","year":"2007","unstructured":"Bittel DC, Kibiryeva N, Sell SM, Strong TV, Butler MG. Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am J Med Genet A 2007;143:430\u201342.","journal-title":"Am J Med Genet A"},{"key":"2014_CR42","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1089\/bio.2014.0068","volume":"13","author":"HS Stevenson","year":"2015","unstructured":"Stevenson HS, Wang Y, Muller R, Edelman DC. Long-term stability of total RNA in RNAstable\u00ae as evaluated by expression microarray. Biopreserv Biobank 2015;13:114\u201322.","journal-title":"Biopreserv Biobank"},{"key":"2014_CR43","doi-asserted-by":"publisher","first-page":"135","DOI":"10.1016\/S0140-6736(02)07340-3","volume":"359","author":"H Boer","year":"2002","unstructured":"Boer H, Holland A, Whittington J, Butler J, Webb T, Clarke D. Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet 2002;359:135\u20136.","journal-title":"Lancet"},{"key":"2014_CR44","doi-asserted-by":"publisher","first-page":"370","DOI":"10.1016\/S2215-0366(18)30009-9","volume":"5","author":"LCS Aman","year":"2018","unstructured":"Aman LCS, Manning KE, Whittington JE, Holland AJ. Mechanistic insights into the genetics of affective psychosis from Prader-Willi syndrome. Lancet Psychiatry 2018;5:370\u20138.","journal-title":"Lancet Psychiatry"},{"key":"2014_CR45","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1046\/j.1365-2788.1998.4260463.x","volume":"42","author":"A Beardsmore","year":"1998","unstructured":"Beardsmore A, Dorman T, Cooper S, Webb T. Affective psychosis and Prader-Willi syndrome. J Intellect Disabil Res. 1998;42:463\u201371.","journal-title":"J Intellect Disabil Res."},{"key":"2014_CR46","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1016\/j.psyneuen.2018.08.037","volume":"99","author":"AM Perkeybile","year":"2019","unstructured":"Perkeybile AM, Carter CS, Wroblewski KL, Puglia MH, Kenkel WM, Lillard TS, et al. Early nurture epigenetically tunes the oxytocin receptor. Psychoneuroendocrinology 2019;99:128\u201336.","journal-title":"Psychoneuroendocrinology"},{"key":"2014_CR47","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1016\/j.jsbmb.2017.04.001","volume":"171","author":"K Tsuboi","year":"2017","unstructured":"Tsuboi K, Nagatomo T, Gohno T, Higuchi T, Sasaki S, Fujiki N, et al. Single CpG site methylation controls estrogen receptor gene transcription and correlates with hormone therapy resistance. J Steroid Biochem Mol Biol. 2017;171:209\u201317.","journal-title":"J Steroid Biochem Mol Biol."},{"key":"2014_CR48","doi-asserted-by":"publisher","first-page":"2483","DOI":"10.1200\/JCO.2011.39.3090","volume":"30","author":"R Claus","year":"2012","unstructured":"Claus R, Lucas DM, Stilgenbauer S, Ruppert AS, Yu L, Zucknick M, et al. Quantitative DNA methylation analysis identifies a single CpG dinucleotide important for ZAP-70 expression and predictive of prognosis in chronic lymphocytic leukemia. J Clin Oncol. 2012;30:2483\u201391.","journal-title":"J Clin Oncol."},{"key":"2014_CR49","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1016\/j.ajhg.2013.05.007","volume":"93","author":"A Gregor","year":"2013","unstructured":"Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, et al. De novo mutations in the genome organizer CTCF cause intellectual disability. Am J Hum Genet. 2013;93:124\u201331.","journal-title":"Am J Hum Genet."},{"key":"2014_CR50","doi-asserted-by":"publisher","first-page":"2723","DOI":"10.1038\/s41436-019-0585-z","volume":"21","author":"EDH Konrad","year":"2019","unstructured":"Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, et al. CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum. Genet Med. 2019;21:2723\u201333.","journal-title":"Genet Med."},{"key":"2014_CR51","doi-asserted-by":"publisher","first-page":"1205","DOI":"10.1007\/s00018-017-2706-7","volume":"75","author":"L Davis","year":"2018","unstructured":"Davis L, Onn I, Elliott E. The emerging roles for the chromatin structure regulators CTCF and cohesin in neurodevelopment and behavior. Cell Mol Life Sci. 2018;75:1205\u201314.","journal-title":"Cell Mol Life Sci."},{"key":"2014_CR52","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1038\/mp.2017.60","volume":"23","author":"R Harripaul","year":"2018","unstructured":"Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, et al. Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families. Mol Psychiatry 2018;23:973\u201384.","journal-title":"Mol Psychiatry"},{"key":"2014_CR53","doi-asserted-by":"publisher","first-page":"2532","DOI":"10.1038\/s41436-019-0523-0","volume":"21","author":"K Khan","year":"2019","unstructured":"Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, et al. Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia. Genet Med. 2019;21:2532\u201342.","journal-title":"Genet Med."},{"key":"2014_CR54","doi-asserted-by":"publisher","first-page":"3177","DOI":"10.1093\/hmg\/ddy220","volume":"27","author":"Z Fattahi","year":"2018","unstructured":"Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, et al. Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. Hum Mol Genet. 2018;27:3177\u201388.","journal-title":"Hum Mol Genet."},{"key":"2014_CR55","doi-asserted-by":"publisher","first-page":"1615","DOI":"10.1038\/ejhg.2015.51","volume":"23","author":"J Nevado","year":"2015","unstructured":"Nevado J, Rosenfeld JA, Mena R, Palomares-Bralo M, Vallesp\u00edn E, Mori M\u00c1, et al. PIAS4 is associated with macro\/microcephaly in the novel interstitial 19p13.3 microdeletion\/microduplication syndrome. Eur J Hum Genet. 2015;23:1615\u201326.","journal-title":"Eur J Hum Genet."},{"key":"2014_CR56","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1038\/s10038-019-0690-5","volume":"65","author":"A Ohishi","year":"2020","unstructured":"Ohishi A, Masunaga Y, Iijima S, Yamoto K, Kato F, Fukami M, et al. De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions. J Hum Genet. 2020;65:181\u20136.","journal-title":"J Hum Genet."},{"key":"2014_CR57","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1046\/j.1471-4159.2000.0750091.x","volume":"75","author":"ST Hou","year":"2000","unstructured":"Hou ST, Callaghan D, Fournier M-C, Hill I, Kang L, Massie B, et al. The transcription factor E2F1 modulates apoptosis of neurons. J Neurochem. 2000;75:91\u2013100.","journal-title":"J Neurochem."},{"key":"2014_CR58","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1111\/gtc.12884","volume":"26","author":"K Yoshikawa","year":"2021","unstructured":"Yoshikawa K. Necdin: A purposive integrator of molecular interaction networks for mammalian neuron vitality. Genes Cells 2021;26:641\u201383.","journal-title":"Genes Cells"},{"key":"2014_CR59","doi-asserted-by":"publisher","unstructured":"Zhou X, Zhong S, Peng H, Liu J, Ding W, Sun L, et al. Cellular and molecular properties of neural progenitors in the developing mammalian hypothalamus. Nat Commun. 2020. https:\/\/doi.org\/10.1038\/s41467-020-17890-2.","DOI":"10.1038\/s41467-020-17890-2"},{"key":"2014_CR60","doi-asserted-by":"publisher","first-page":"12003","DOI":"10.1523\/JNEUROSCI.3002-06.2006","volume":"26","author":"M Kurita","year":"2006","unstructured":"Kurita M, Kuwajima T, Nishimura I, Yoshikawa K. Necdin downregulates Cdc2 expression to attenuate neuronal apoptosis. J Neurosci 2006;26:12003\u201313.","journal-title":"J Neurosci"},{"key":"2014_CR61","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1074\/jbc.273.2.720","volume":"273","author":"H Taniura","year":"1998","unstructured":"Taniura H, Taniguchi N, Hara M, Yoshikawa K. Necdin, a postmitotic neuron-specific growth suppressor, interacts with viral transforming proteins and cellular transcription factor E2F1*. J Biol Chem. 1998;273:720\u20138.","journal-title":"J Biol Chem."},{"key":"2014_CR62","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1074\/jbc.M308454200","volume":"279","author":"KI Kuwako","year":"2004","unstructured":"Kuwako KI, Taniura H, Yoshikawa K. Necdin-related MAGE proteins differentially interact with the E2F1 transcription factor and the p75 neurotrophin receptor. J Biol Chem. 2004;279:1703\u201312.","journal-title":"J Biol Chem"},{"key":"2014_CR63","doi-asserted-by":"publisher","unstructured":"Hara-Isono K, Matsubara K, Fuke T, Yamazawa K, Satou K, Murakami N, et al. Genome-wide methylation analysis in Silver\u2013Russell syndrome, temple syndrome, and Prader\u2013Willi syndrome. Clin Epigenetics. 2020. https:\/\/doi.org\/10.1186\/s13148-020-00949-8.","DOI":"10.1186\/s13148-020-00949-8"},{"key":"2014_CR64","doi-asserted-by":"publisher","first-page":"280","DOI":"10.1080\/01677063.2016.1202951","volume":"30","author":"ME Yuksel","year":"2016","unstructured":"Yuksel ME, Yuceturk B, Karatas OF, Ozen M, Dogangun B. The altered promoter methylation of oxytocin receptor gene in autism. J Neurogenet. 2016;30:280\u20134.","journal-title":"J Neurogenet."}],"container-title":["Translational Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41398-022-02014-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41398-022-02014-9","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41398-022-02014-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,11,23]],"date-time":"2022-11-23T14:38:13Z","timestamp":1669214293000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41398-022-02014-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,6,10]]},"references-count":64,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["2014"],"URL":"https:\/\/doi.org\/10.1038\/s41398-022-02014-9","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2021.12.14.21267765","asserted-by":"object"}]},"ISSN":["2158-3188"],"issn-type":[{"value":"2158-3188","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,6,10]]},"assertion":[{"value":"18 January 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 May 2022","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 May 2022","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2022","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"MD, JW, HF, SB, PP, AG, KJ, and HH declare that they do not have any competing interests. CE has received speaker\u00b4s honoraria from Recordati Pharma GmbH. HBM took part in an educational event sponsored by Livanova.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"246"}}