{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,15]],"date-time":"2026-06-15T22:31:54Z","timestamp":1781562714090,"version":"3.54.5"},"reference-count":45,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2022,2]]},"DOI":"10.1016\/j.jpeds.2021.09.052","type":"journal-article","created":{"date-parts":[[2021,10,4]],"date-time":"2021-10-04T19:50:47Z","timestamp":1633377047000},"page":"154-161","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":7,"special_numbering":"C","title":["Mitochondrial DNA Copy Number in Rett Syndrome Caused by Methyl-CpG-Binding Protein-2\u00a0Variants"],"prefix":"10.1016","volume":"241","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2791-9773","authenticated-orcid":false,"given":"Siwen","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pei","family":"Pei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lin","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hairong","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefei","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Songtao","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yang","family":"Xiao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Pan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinhua","family":"Bao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Qi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yinan","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2021.09.052_bib1","first-page":"596","article-title":"Rett syndrome symptomatology of institutionalized adults with mental retardation: comparison of males and females","volume":"95","author":"Burd","year":"1991","journal-title":"Am J Ment Retard"},{"key":"10.1016\/j.jpeds.2021.09.052_bib2","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1177\/088307389400900419","article-title":"Neuropathology of Rett syndrome: case report with neuronal and mitochondrial abnormalities in the brain","volume":"9","author":"Cornford","year":"1994","journal-title":"J Child Neurol"},{"key":"10.1016\/j.jpeds.2021.09.052_bib3","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1186\/1471-2202-11-53","article-title":"Downstream targets of methyl CpG binding protein 2 and their abnormal expression in the frontal cortex of the human Rett syndrome brain","volume":"11","author":"Gibson","year":"2010","journal-title":"BMC Neurosci"},{"key":"10.1016\/j.jpeds.2021.09.052_bib4","doi-asserted-by":"crossref","first-page":"3148","DOI":"10.1002\/cncr.25906","article-title":"Association between mitochondrial DNA content in leukocytes and colorectal cancer risk: a case-control analysis","volume":"117","author":"Qu","year":"2011","journal-title":"Cancer"},{"key":"10.1016\/j.jpeds.2021.09.052_bib5","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1002\/ana.22124","article-title":"Rett syndrome: revised diagnostic criteria and nomenclature","volume":"68","author":"Neul","year":"2010","journal-title":"Ann Neurol"},{"key":"10.1016\/j.jpeds.2021.09.052_bib6","doi-asserted-by":"crossref","first-page":"e0128624","DOI":"10.1371\/journal.pone.0128624","article-title":"Deletion of a 4977-bp fragment in the mitochondrial genome is associated with mitochondrial disease severity","volume":"10","author":"Zhang","year":"2015","journal-title":"PLoS One"},{"key":"10.1016\/j.jpeds.2021.09.052_bib7","doi-asserted-by":"crossref","first-page":"240","DOI":"10.1111\/cge.13790","article-title":"MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort","volume":"98","author":"Wen","year":"2020","journal-title":"Clin Genet"},{"key":"10.1016\/j.jpeds.2021.09.052_bib8","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/S0387-7604(12)80283-X","article-title":"The Rett syndrome and CSF lactic acid patterns","volume":"14","author":"Matsuishi","year":"1992","journal-title":"Brain Dev"},{"key":"10.1016\/j.jpeds.2021.09.052_bib9","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1016\/0387-7604(94)90129-5","article-title":"Elevated CSF lactate in the Rett syndrome: cause or consequence?","volume":"16","author":"Lappalainen","year":"1994","journal-title":"Brain Dev"},{"key":"10.1016\/j.jpeds.2021.09.052_bib10","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1055\/s-2007-979735","article-title":"Oxidative metabolism in Rett syndrome: 2. Biochemical and molecular studies","volume":"26","author":"Haas","year":"1995","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.jpeds.2021.09.052_bib11","doi-asserted-by":"crossref","first-page":"5033","DOI":"10.1128\/MCB.01665-05","article-title":"Gene expression analysis exposes mitochondrial abnormalities in a mouse model of Rett syndrome","volume":"26","author":"Kriaucionis","year":"2006","journal-title":"Mol Cell Biol"},{"key":"10.1016\/j.jpeds.2021.09.052_bib12","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1016\/j.mito.2014.02.012","article-title":"Mitochondrial dysfunction in the skeletal muscle of a mouse model of Rett syndrome (RTT): implications for the disease phenotype","volume":"15","author":"Gold","year":"2014","journal-title":"Mitochondrion"},{"key":"10.1016\/j.jpeds.2021.09.052_bib13","doi-asserted-by":"crossref","first-page":"e125","DOI":"10.1136\/jmg.40.11.e125","article-title":"Compensatory amplification of mtDNA in a patient with a novel deletion\/duplication and high mutant load","volume":"40","author":"Wong","year":"2003","journal-title":"J Med Genet"},{"key":"10.1016\/j.jpeds.2021.09.052_bib14","doi-asserted-by":"crossref","first-page":"2287","DOI":"10.1194\/jlr.P017798","article-title":"F2-dihomo-isoprostanes as potential early biomarkers of lipid oxidative damage in Rett syndrome","volume":"52","author":"De Felice","year":"2011","journal-title":"J Lipid Res"},{"key":"10.1016\/j.jpeds.2021.09.052_bib15","doi-asserted-by":"crossref","first-page":"137629","DOI":"10.1155\/2013\/137629","article-title":"Genes related to mitochondrial functions, protein degradation, and chromatin folding are differentially expressed in lymphomonocytes of Rett syndrome patients","volume":"2013","author":"Pecorelli","year":"2013","journal-title":"Mediators Inflamm"},{"key":"10.1016\/j.jpeds.2021.09.052_bib16","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1097\/WCO.0b013e32835f19a7","article-title":"Mechanisms and therapeutic challenges in autism spectrum disorders: insights from Rett syndrome","volume":"26","author":"Castro","year":"2013","journal-title":"Curr Opin Neurol"},{"key":"10.1016\/j.jpeds.2021.09.052_bib17","doi-asserted-by":"crossref","first-page":"1563","DOI":"10.1111\/j.1460-9568.2011.07658.x","article-title":"In sickness and in health: the role of methyl-CpG binding protein 2 in the central nervous system","volume":"33","author":"D\u00edaz de Le\u00f3n-Guerrero","year":"2011","journal-title":"Eur J Neurosci"},{"key":"10.1016\/j.jpeds.2021.09.052_bib18","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.nbd.2012.06.007","article-title":"Oxidative burden and mitochondrial dysfunction in a mouse model of Rett syndrome","volume":"48","author":"Grosser","year":"2012","journal-title":"Neurobiol Dis"},{"key":"10.1016\/j.jpeds.2021.09.052_bib19","doi-asserted-by":"crossref","first-page":"1233","DOI":"10.1016\/j.neuroscience.2006.10.056","article-title":"Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases","volume":"145","author":"Trushina","year":"2007","journal-title":"Neuroscience"},{"key":"10.1016\/j.jpeds.2021.09.052_bib20","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1097\/01.jnen.0000248541.05552.c4","article-title":"Mitochondriopathy in Parkinson disease and amyotrophic lateral sclerosis","volume":"65","author":"Martin","year":"2006","journal-title":"J Neuropathol Exp Neurol"},{"key":"10.1016\/j.jpeds.2021.09.052_bib21","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1016\/j.bbabio.2017.01.004","article-title":"Mitochondrial dysfunction and mitochondrial dynamics-the cancer connection","volume":"1858","author":"Srinivasan","year":"2017","journal-title":"Biochim Biophys Acta Bioenerg"},{"key":"10.1016\/j.jpeds.2021.09.052_bib22","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1101\/gr.269381.120","article-title":"Blood-derived mitochondrial DNA copy number is associated with gene expression across multiple tissues and is predictive for incident neurodegenerative disease","volume":"31","author":"Yang","year":"2021","journal-title":"Genome Res"},{"key":"10.1016\/j.jpeds.2021.09.052_bib23","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1186\/s12888-015-0432-y","article-title":"Elevated mitochondrial DNA copy number in peripheral blood cells is associated with childhood autism","volume":"15","author":"Chen","year":"2015","journal-title":"BMC Psychiatry"},{"key":"10.1016\/j.jpeds.2021.09.052_bib24","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/j.mito.2014.05.001","article-title":"Reduction in mitochondrial DNA copy number in peripheral leukocytes after onset of Huntington's disease","volume":"17","author":"Petersen","year":"2014","journal-title":"Mitochondrion"},{"key":"10.1016\/j.jpeds.2021.09.052_bib25","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.psychres.2018.08.014","article-title":"Mitochondrial DNA copy number of peripheral blood in bipolar disorder: the present study and a meta-analysis","volume":"269","author":"Yamaki","year":"2018","journal-title":"Psychiatry Res"},{"key":"10.1016\/j.jpeds.2021.09.052_bib26","doi-asserted-by":"crossref","first-page":"312","DOI":"10.3389\/fpsyt.2019.00312","article-title":"Mitochondrial DNA copy number raises the potential of left frontopolar hemodynamic response as a diagnostic marker for distinguishing bipolar disorder from major depressive disorder","volume":"10","author":"Tsujii","year":"2019","journal-title":"Front Psychiatry"},{"key":"10.1016\/j.jpeds.2021.09.052_bib27","first-page":"1026","article-title":"Kinetic PCR analysis: real-time monitoring of DNA amplification reactions","volume":"11","author":"Higuchi","year":"1993","journal-title":"Biotechnology (NY)"},{"key":"10.1016\/j.jpeds.2021.09.052_bib28","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1080\/15622975.2016.1234069","article-title":"Difference in mitochondrial DNA copy number in peripheral blood cells between probands with autism spectrum disorders and their unaffected siblings","volume":"18","author":"Yoo","year":"2017","journal-title":"World J Biol Psychiatry"},{"key":"10.1016\/j.jpeds.2021.09.052_bib29","doi-asserted-by":"crossref","first-page":"696428","DOI":"10.3389\/fcell.2021.696428","article-title":"DNA methylation of PGC-1\u03b1 is associated with elevated mtDNA copy number and altered urinary metabolites in autism spectrum disorder","volume":"9","author":"Bam","year":"2021","journal-title":"Front Cell Dev Biol"},{"key":"10.1016\/j.jpeds.2021.09.052_bib30","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/378776a0","article-title":"Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in\u00a0vitro","volume":"378","author":"Busciglio","year":"1995","journal-title":"Nature"},{"key":"10.1016\/j.jpeds.2021.09.052_bib31","doi-asserted-by":"crossref","first-page":"150","DOI":"10.3389\/fphys.2014.00150","article-title":"Evidence linking oxidative stress, mitochondrial dysfunction, and inflammation in the brain of individuals with autism","volume":"5","author":"Rossignol","year":"2014","journal-title":"Front Physiol"},{"issue":"10 Pt A","key":"10.1016\/j.jpeds.2021.09.052_bib32","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1016\/j.bbadis.2015.07.014","article-title":"Impaired enzymatic defensive activity, mitochondrial dysfunction and proteasome activation are involved in RTT cell oxidative damage","volume":"1852","author":"Cervellati","year":"2015","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.jpeds.2021.09.052_bib33","doi-asserted-by":"crossref","first-page":"195935","DOI":"10.1155\/2014\/195935","article-title":"Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome","volume":"2014","author":"Signorini","year":"2014","journal-title":"Oxid Med Cell Longev"},{"key":"10.1016\/j.jpeds.2021.09.052_bib34","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1093\/ejechocard\/jer256","article-title":"Subclinical myocardial dysfunction in Rett syndrome","volume":"13","author":"De Felice","year":"2012","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"10.1016\/j.jpeds.2021.09.052_bib35","doi-asserted-by":"crossref","first-page":"506","DOI":"10.3389\/fpsyt.2019.00506","article-title":"Peripheral mitochondrial DNA copy number is increased in Korean attention-deficit hyperactivity disorder patients","volume":"10","author":"Kim","year":"2019","journal-title":"Front Psychiatry"},{"key":"10.1016\/j.jpeds.2021.09.052_bib36","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1093\/cvr\/cvn098","article-title":"Transcriptional control of mitochondrial biogenesis: the central role of PGC-1alpha","volume":"79","author":"Ventura-Clapier","year":"2008","journal-title":"Cardiovasc Res"},{"key":"10.1016\/j.jpeds.2021.09.052_bib37","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1093\/hmg\/ddh109","article-title":"Mitochondrial transcription factor A regulates mtDNA copy number in mammals","volume":"13","author":"Ekstrand","year":"2004","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.jpeds.2021.09.052_bib38","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1080\/10715760310001621342","article-title":"Oxidative stress-related alteration of the copy number of mitochondrial DNA in human leukocytes","volume":"37","author":"Liu","year":"2003","journal-title":"Free Radic Res"},{"key":"10.1016\/j.jpeds.2021.09.052_bib39","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/j.freeradbiomed.2009.05.016","article-title":"Systemic oxidative stress in classic Rett syndrome","volume":"47","author":"De Felice","year":"2009","journal-title":"Free Radic Biol Med"},{"key":"10.1016\/j.jpeds.2021.09.052_bib40","doi-asserted-by":"crossref","first-page":"2357","DOI":"10.1158\/1055-9965.EPI-14-0297","article-title":"Association of leukocyte mitochondrial DNA copy number with colorectal cancer risk: results from the Shanghai Women's Health Study","volume":"23","author":"Huang","year":"2014","journal-title":"Cancer Epidemiol Biomarkers Prev"},{"key":"10.1016\/j.jpeds.2021.09.052_bib41","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1080\/15216540701509955","article-title":"Reduced mitochondrial DNA copy number is correlated with tumor progression and prognosis in Chinese breast cancer patients","volume":"59","author":"Yu","year":"2007","journal-title":"IUBMB Life"},{"key":"10.1016\/j.jpeds.2021.09.052_bib42","doi-asserted-by":"crossref","first-page":"2435","DOI":"10.4103\/0366-6999.216395","article-title":"Reference intervals of mitochondrial DNA copy number in peripheral blood for Chinese minors and adults","volume":"130","author":"Xia","year":"2017","journal-title":"Chin Med J (Engl)"},{"key":"10.1016\/j.jpeds.2021.09.052_bib43","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1373\/clinchem.2009.141549","article-title":"Quantitative evaluation of\u00a0the mitochondrial DNA depletion syndrome","volume":"56","author":"Dimmock","year":"2010","journal-title":"Clin Chem"},{"key":"10.1016\/j.jpeds.2021.09.052_bib44","doi-asserted-by":"crossref","first-page":"560120","DOI":"10.1155\/2014\/560120","article-title":"Inflammatory lung disease in Rett syndrome","volume":"2014","author":"De Felice","year":"2014","journal-title":"Mediators Inflamm"},{"key":"10.1016\/j.jpeds.2021.09.052_bib45","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1016\/j.mito.2013.08.007","article-title":"Mitochondrial retrograde signaling at the crossroads of tumor bioenergetics, genetics and epigenetics","volume":"13","author":"Guha","year":"2013","journal-title":"Mitochondrion"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347621009549?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347621009549?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,20]],"date-time":"2025-09-20T09:10:46Z","timestamp":1758359446000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347621009549"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":45,"alternative-id":["S0022347621009549"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2021.09.052","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2022,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mitochondrial DNA Copy Number in Rett Syndrome Caused by Methyl-CpG-Binding Protein-2\u00a0Variants","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2021.09.052","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}