{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T15:08:22Z","timestamp":1770995302062,"version":"3.50.1"},"reference-count":45,"publisher":"Oxford University Press (OUP)","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,6,15]]},"DOI":"10.1093\/hmg\/ddt099","type":"journal-article","created":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T18:58:49Z","timestamp":1362164329000},"page":"2471-2481","source":"Crossref","is-referenced-by-count":39,"title":["Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q"],"prefix":"10.1093","volume":"22","author":[{"given":"Masaru","family":"Tamura","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masaki","family":"Hosoya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Motoi","family":"Fujita","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Iida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Amano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akiteru","family":"Maeno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taro","family":"Kataoka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Taketo","family":"Otsuka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigekazu","family":"Tanaka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuichi","family":"Tomizawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshihiko","family":"Shiroishi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2013,2,27]]},"reference":[{"key":"key\n\t\t\t\t20170503072346_DDT099C1","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/S0003-3995(02)01117-6","article-title":"Trisomy 4q syndrome: presentation of a new case and review of the literature","volume":"45","author":"Lundin","year":"2002","journal-title":"Ann. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C2","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/ajmg.a.10093","article-title":"Cytogenetic and molecular characterization of a de novo 4q24qter duplication and correlation to the associated phenotype","volume":"118A","author":"Rinaldi","year":"2003","journal-title":"Am. J. Med. Genet. A."},{"key":"key\n\t\t\t\t20170503072346_DDT099C3","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1002\/ajmg.a.30643","article-title":"Duplication of chromosome 4q: renal pathology of two siblings","volume":"134A","author":"Otsuka","year":"2005","journal-title":"Am. J. Med. Genet. A."},{"key":"key\n\t\t\t\t20170503072346_DDT099C4","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1002\/ajmg.a.30644","article-title":"Karyotype\/phenotype correlations in duplication 4q: evidence for a critical region within 4q27\u201328 for preaxial defects","volume":"134A","author":"Battaglia","year":"2005","journal-title":"Am. J. Med. Genet. A."},{"key":"key\n\t\t\t\t20170503072346_DDT099C5","doi-asserted-by":"crossref","first-page":"304","DOI":"10.1002\/ajmg.a.30960","article-title":"Partial trisomy 4q and preaxial limb defects","volume":"138A","author":"Lurie","year":"2005","journal-title":"Am. J. Med. Genet. A."},{"key":"key\n\t\t\t\t20170503072346_DDT099C6","first-page":"103","article-title":"Phenotypic variation in partial trisomy 4q","volume":"28","author":"Vogel","year":"1975","journal-title":"Humangenetik"},{"key":"key\n\t\t\t\t20170503072346_DDT099C7","first-page":"243","article-title":"Partial trisomy 4q","volume":"20","author":"Yunis","year":"1977","journal-title":"Ann. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C8","first-page":"52","article-title":"Partial duplication of the long arm of chromosome 4","volume":"23","author":"Fryns","year":"1980","journal-title":"Ann. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C9","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1002\/ajmg.1320460114","article-title":"Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3\u2013q31.3)","volume":"46","author":"Jeziorowska","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C10","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1002\/1096-8628(20000911)94:2<125::AID-AJMG5>3.0.CO;2-F","article-title":"Duplication of chromosome region 4q28.3-qter in monozygotic twins with discordant phenotypes","volume":"94","author":"Celle","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C11","first-page":"211","article-title":"Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo","volume":"17","author":"Hubert","year":"2006","journal-title":"Genet. Couns."},{"key":"key\n\t\t\t\t20170503072346_DDT099C12","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1093\/hmg\/ddh044","article-title":"Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2)","volume":"13","author":"Walz","year":"2004","journal-title":"Hum. Mol. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C13","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1126\/science.1098992","article-title":"A chromosome 21 critical region does not cause specific Down syndrome phenotypes","volume":"306","author":"Olson","year":"2004","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503072346_DDT099C14","doi-asserted-by":"crossref","first-page":"2033","DOI":"10.1126\/science.1114535","article-title":"An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes","volume":"309","author":"O'Doherty","year":"2005","journal-title":"Science"},{"key":"key\n\t\t\t\t20170503072346_DDT099C15","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1016\/j.cell.2009.04.024","article-title":"Abnormal behavior in a chromosome-engineered mouse model for human 15q11\u201313 duplication seen in autism","volume":"137","author":"Nakatani","year":"2009","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170503072346_DDT099C16","doi-asserted-by":"crossref","first-page":"1645","DOI":"10.1101\/gad.9.13.1645","article-title":"A duplicated zone of polarizing activity in polydactylous mouse mutants","volume":"9","author":"Masuya","year":"1995","journal-title":"Genes. Dev."},{"key":"key\n\t\t\t\t20170503072346_DDT099C17","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1038\/ng0697-154","article-title":"Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND","volume":"16","author":"Srivastava","year":"1997","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C18","doi-asserted-by":"crossref","first-page":"3077","DOI":"10.1242\/dev.129.13.3077","article-title":"Misexpression of dHAND induces ectopic digits in the developing limb bud in the absence of direct DNA binding","volume":"129","author":"McFadden","year":"2002","journal-title":"Development"},{"key":"key\n\t\t\t\t20170503072346_DDT099C19","doi-asserted-by":"crossref","first-page":"500","DOI":"10.1101\/gr.7175308","article-title":"Mouse inter-subspecific consomic strains for genetic dissection of quantitative complex traits","volume":"18","author":"Takada","year":"2008","journal-title":"Genome Res."},{"key":"key\n\t\t\t\t20170503072346_DDT099C20","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1038\/ng1525","article-title":"Altered Twist1 and Hand2 dimerization is associated with Saethre-Chotzen syndrome and limb abnormalities","volume":"37","author":"Firulli","year":"2005","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C21","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1038\/nrg2681","article-title":"Vertebrate limb bud development: moving towards integrative analysis of organogenesis","volume":"10","author":"Zeller","year":"2009","journal-title":"Nat. Rev. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C22","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1007\/BF02001799","article-title":"A case of distal 4q trisomy due to familial (4;5)(q31;p15) translocation","volume":"23","author":"Oka","year":"1978","journal-title":"Jpn. J. Hum. Genet. (Jinrui Idengaku Zasshi)"},{"key":"key\n\t\t\t\t20170503072346_DDT099C23","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1002\/ajmg.1320530304","article-title":"De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p","volume":"53","author":"Legare","year":"1994","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C24","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1006\/dbio.1999.9548","article-title":"Cardiac expression of the ventricle-specific homeobox gene Irx4 is modulated by Nkx2.5 and dHand","volume":"217","author":"Bruneau","year":"2000","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20170503072346_DDT099C25","doi-asserted-by":"crossref","first-page":"5331","DOI":"10.1242\/dev.127.24.5331","article-title":"A GATA-dependent right ventricular enhancer controls dHAND transcription in the developing heart","volume":"127","author":"McFadden","year":"2000","journal-title":"Development"},{"key":"key\n\t\t\t\t20170503072346_DDT099C26","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1006\/dbio.1998.8849","article-title":"The bHLH factors, dHAND and eHAND, specify pulmonary and systemic cardiac ventricles independent of left-right sidedness","volume":"196","author":"Thomas","year":"1998","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20170503072346_DDT099C27","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<297::AID-AJMG18>3.0.CO;2-F","article-title":"De novo interstitial tandem duplication of chromosome 4(q21\u2013q28)","volume":"62","author":"Navarro","year":"1996","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C28","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/ng0197-36","article-title":"Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome","volume":"15","author":"Howard","year":"1997","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C29","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1038\/ng0197-42","article-title":"Mutations of the TWIST gene in the Saethre-Chotzen syndrome","volume":"15","author":"El Ghouzzi","year":"1997","journal-title":"Nat. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C30","first-page":"975","article-title":"The mouse polydactylous mutation, luxate (lx), causes anterior shift of the anteroposterior border in the developing hind limb bud","volume":"46","author":"Yada","year":"2002","journal-title":"Int. J. Dev. Biol."},{"key":"key\n\t\t\t\t20170503072346_DDT099C31","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<357::AID-AJMG5>3.0.CO;2-Q","article-title":"Unbalanced t(4;11)(q32;q23) in a 34-year-old man with manifestations of distal monosomy 11q and trisomy 4q syndromes","volume":"70","author":"Byatt","year":"1997","journal-title":"Am. J. Med. Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C32","first-page":"201","article-title":"Translocation\/duplication of 9p onto a duplicated 4q","volume":"3","author":"Rivera","year":"1992","journal-title":"Genet. Couns."},{"key":"key\n\t\t\t\t20170503072346_DDT099C33","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.ydbio.2009.03.021","article-title":"Hand2 is required in the epithelium for palatogenesis in mice","volume":"330","author":"Xiong","year":"2009","journal-title":"Dev. Biol."},{"key":"key\n\t\t\t\t20170503072346_DDT099C34","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/j.cell.2007.03.030","article-title":"Dysregulation of cardiogenesis, cardiac conduction, and cell cycle in mice lacking miRNA-1-2","volume":"129","author":"Zhao","year":"2007","journal-title":"Cell"},{"key":"key\n\t\t\t\t20170503072346_DDT099C35","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1038\/ki.2008.661","article-title":"Lymphatic vessels develop during tubulointerstitial fibrosis","volume":"75","author":"Sakamoto","year":"2009","journal-title":"Kidney Int."},{"key":"key\n\t\t\t\t20170503072346_DDT099C36","doi-asserted-by":"crossref","first-page":"e1000901","DOI":"10.1371\/journal.pgen.1000901","article-title":"Distinct roles of Hand2 in initiating polarity and posterior Shh expression during the onset of mouse limb bud development","volume":"6","author":"Galli","year":"2010","journal-title":"PLoS Genet."},{"key":"key\n\t\t\t\t20170503072346_DDT099C37","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.ygeno.2007.01.003","article-title":"Members of a novel gene family, Gsdm, are expressed exclusively in the epithelium of the skin and gastrointestinal tract in a highly tissue-specific manner","volume":"89","author":"Tamura","year":"2007","journal-title":"Genomics"},{"key":"key\n\t\t\t\t20170503072346_DDT099C38","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1006\/meth.2001.1262","article-title":"Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method","volume":"25","author":"Livak","year":"2001","journal-title":"Methods"},{"key":"key\n\t\t\t\t20170503072346_DDT099C39","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.devcel.2008.11.011","article-title":"Chromosomal dynamics at the Shh locus: limb bud-specific differential regulation of competence and active transcription","volume":"16","author":"Amano","year":"2009","journal-title":"Dev. Cell"},{"key":"key\n\t\t\t\t20170503072346_DDT099C40","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1161\/CIRCIMAGING.109.918482","article-title":"Rapid 3D phenotyping of cardiovascular development in mouse embryos by micro-CT with iodine staining","volume":"3","author":"Degenhardt","year":"2010","journal-title":"Circ. Cardiovasc. Imaging"},{"key":"key\n\t\t\t\t20170503072346_DDT099C41","doi-asserted-by":"crossref","first-page":"6640","DOI":"10.1073\/pnas.120163297","article-title":"One-step inactivation of chromosomal genes in Escherichia coli K-12 using PCR products","volume":"97","author":"Datsenko","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"key\n\t\t\t\t20170503072346_DDT099C42","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1016\/j.bbrc.2007.05.209","article-title":"A new Gsdma3 mutation affecting anagen phase of first hair cycle","volume":"359","author":"Tanaka","year":"2007","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"key\n\t\t\t\t20170503072346_DDT099C43","doi-asserted-by":"crossref","first-page":"e2430","DOI":"10.1371\/journal.pone.0002430","article-title":"Identification of the bHLH factor Math6 as a novel component of the embryonic pancreas transcriptional network","volume":"3","author":"Lynn","year":"2008","journal-title":"PLoS One"},{"key":"key\n\t\t\t\t20170503072346_DDT099C44","first-page":"291","article-title":"Familial occurrence of partial trisomy 4q and probable monosomy 5p due to 4q\/5p translocation","volume":"23","author":"Gencik","year":"1982","journal-title":"Acta. Paediatr. Acad. Sci. Hung."},{"key":"key\n\t\t\t\t20170503072346_DDT099C45","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1007\/BF00281888","article-title":"Partial trisomy 4q due to familial 2\/4 translocation","volume":"33","author":"Biederman","year":"1976","journal-title":"Hum. Genet."}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/hmg\/article-pdf\/22\/12\/2471\/14139556\/ddt099.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T20:32:08Z","timestamp":1644438728000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article-lookup\/doi\/10.1093\/hmg\/ddt099"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,27]]},"references-count":45,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2013,2,27]]},"published-print":{"date-parts":[[2013,6,15]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddt099","relation":{},"ISSN":["1460-2083","0964-6906"],"issn-type":[{"value":"1460-2083","type":"electronic"},{"value":"0964-6906","type":"print"}],"subject":[],"published":{"date-parts":[[2013,2,27]]}}}