{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T14:49:34Z","timestamp":1781102974390,"version":"3.54.1"},"reference-count":15,"publisher":"Japanese Society for Pediatric Endocrinology","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clin Pediatr Endocrinol"],"published-print":{"date-parts":[[2021]]},"DOI":"10.1297\/cpe.30.61","type":"journal-article","created":{"date-parts":[[2021,1,4]],"date-time":"2021-01-04T17:07:46Z","timestamp":1609780066000},"page":"61-64","source":"Crossref","is-referenced-by-count":7,"title":["X-linked mental retardation and severe short stature with a novel mutation of          the <i>KDM5C<\/i> gene"],"prefix":"10.1297","volume":"30","author":[{"given":"Fumika","family":"Kawano-Matsuda","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Oita University Faculty of              Medicine, Oita, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoki","family":"Maeda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oita University Faculty of              Medicine, Oita, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[{"name":"National Center for Child Health and Development,              Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumiko","family":"Yanagi","sequence":"additional","affiliation":[{"name":"National Center for Child Health and Development,              Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Ihara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Oita University Faculty of              Medicine, Oita, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"125","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Ogata,              T. Genetics of            human growth. Clin Pediatr Endocrinol          2006;15: 45\u201353.","DOI":"10.1297\/cpe.15.45"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Vasques,                GA,              Andrade, NLM,                Jorge,            AAL. Genetic            causes of isolated short stature. Arch Endocrinol Metab          2019;63: 70\u20138.","DOI":"10.20945\/2359-3997000000105"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Rao,              E, Weiss,                B, Fukami,                M, Rump,                A, Niesler,                B, Mertz,                A, et al.            Pseudoautosomal deletions encompassing a novel homeobox gene cause growth            failure in idiopathic short stature and Turner syndrome. Nat            Genet          1997;16: 54\u201363.","DOI":"10.1038\/ng0597-54"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Raymond,                FL. X linked            mental retardation: a clinical guide. J Med Genet          2006;43: 193\u2013200.","DOI":"10.1136\/jmg.2005.033043"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Yamamoto,                T,              Imaizumi, T,                Yamamoto-Shimojima,              K, Lu,                Y,                Yanagishita,              T, Shimada,                S, et al.            Genomic backgrounds of Japanese patients with undiagnosed            neurodevelopmental disorders. Brain Dev          2019;41: 776\u201382.","DOI":"10.1016\/j.braindev.2019.05.007"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Jensen,              LR, Amende,                M, Gurok,                U, Moser,                B, Gimmel,                V,              Tzschach, A,              et al. Mutations in the JARID1C gene, which            is involved in transcriptional regulation and chromatin remodeling, cause X-linked            mental retardation. Am J Hum Genet          2005;76: 227\u201336.","DOI":"10.1086\/427563"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Wu,                J, Ellison,                J, Salido,                E, Yen,                P,              Mohandas, T,                Shapiro,            LJ. Isolation and            characterization of XE169, a novel human gene that escapes            X-inactivation. Hum Mol Genet          1994;3: 153\u201360.","DOI":"10.1093\/hmg\/3.1.153"},{"key":"8","doi-asserted-by":"publisher","unstructured":"8. Tahiliani,                M, Mei,                P, Fang,                R, Leonor,                T,                Rutenberg,              M, Shimizu,                F, et al.            The histone H3K4 demethylase SMCX links REST target genes to X-linked            mental retardation. Nature          2007;447: 601\u20135.","DOI":"10.1038\/nature05823"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Rondinelli,                B,              Schwerer, H,                Antonini,            E, Gaviraghi,                M, Lupi,                A,                Frenquelli,              M, et al.            H3K4me3 demethylation by the histone demethylase KDM5C\/JARID1C promotes            DNA replication origin firing. Nucleic Acids Res          2015;43: 2560\u201374.","DOI":"10.1093\/nar\/gkv090"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Santos,              C,                Rodriguez-Revenga,              L, Madrigal,                I, Badenas,                C, Pineda,                M, Mil\u00e0,                M. A novel            mutation in JARID1C gene associated with mental retardation. Eur            J Hum Genet          2006;14: 583\u20136.","DOI":"10.1038\/sj.ejhg.5201608"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Abidi,              FE, Holloway,                L, Moore,                CA, Weaver,                DD,                Simensen,              RJ,              Stevenson,            RE, et al.            Mutations in JARID1C are associated with X-linked mental retardation,            short stature and hyperreflexia. J Med Genet          2008;45: 787\u201393.","DOI":"10.1136\/jmg.2008.058990"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Adegbola,                A, Gao,                H, Sommer,                S,              Browning,            M. A novel            mutation in JARID1C\/SMCX in a patient with autism spectrum disorder            (ASD). Am J Med Genet A          2008;146A: 505\u201311.","DOI":"10.1002\/ajmg.a.32142"},{"key":"13","unstructured":"13. Abidi,              F, Holloway,                L, Moore,                CA, Weaver,                DD,                Simensen,              RJ,              Stevenson,            RE, et al.            Novel human pathological mutations. Gene symbol: JARID1C. Disease: mental            retardation, X-linked. Hum Genet          2009;125: 344."},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Santos-Rebou\u00e7as,                CB,                Fintelman-Rodrigues,              N, Jensen,                LR, Kuss,                AW,              Ribeiro, MG,                Campos, M,              et al. A novel nonsense mutation in            KDM5C\/JARID1C gene causing intellectual disability, short stature and speech            delay. Neurosci Lett          2011;498: 67\u201371.","DOI":"10.1016\/j.neulet.2011.04.065"},{"key":"15","unstructured":"15. Fujita,              A, Waga,                C, Hachiya,                Y,              Kurihara, E,                Kumada, S,                Takeshita,              E, et al.            Different X-linked KDM5C mutations in affected male siblings: is maternal            reversion error involved?Clin Genet          2016;90: 276\u201381."}],"container-title":["Clinical Pediatric Endocrinology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/30\/1\/30_2020-0055\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,1,9]],"date-time":"2021-01-09T02:56:04Z","timestamp":1610160964000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/cpe\/30\/1\/30_2020-0055\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021]]}},"URL":"https:\/\/doi.org\/10.1297\/cpe.30.61","relation":{},"ISSN":["0918-5739","1347-7358"],"issn-type":[{"value":"0918-5739","type":"print"},{"value":"1347-7358","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}