{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T03:05:53Z","timestamp":1791947153909,"version":"4.3.4"},"reference-count":25,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2007,5,1]],"date-time":"2007-05-01T00:00:00Z","timestamp":1177977600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":2271,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2007,5]]},"DOI":"10.1086\/515582","type":"journal-article","created":{"date-parts":[[2007,4,11]],"date-time":"2007-04-11T18:34:12Z","timestamp":1176316452000},"page":"988-993","source":"Crossref","is-referenced-by-count":297,"title":["Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction"],"prefix":"10.1016","volume":"80","author":[{"given":"Jeanne","family":"Amiel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Rio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lo\u00efc de","family":"Pontual","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Redon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Malan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Boddaert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Perrine","family":"Plouin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nigel P.","family":"Carter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislas","family":"Lyonnet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arnold","family":"Munnich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Colleaux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1086\/515582_bib5","first-page":"182","article-title":"A syndrome of mental retardation, wide mouth and intermittent overbreathing","volume":"14","author":"Pitt","year":"1978","journal-title":"Aust Paediatr J"},{"key":"10.1086\/515582_bib6","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1111\/j.1440-1754.1993.tb00472.x","article-title":"Mental retardation, macrostomia and hyperpnoea syndrome","volume":"29","author":"Singh","year":"1993","journal-title":"J Paediatr Child Health"},{"key":"10.1086\/515582_bib7","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/(SICI)1096-8628(19980123)75:3<273::AID-AJMG9>3.0.CO;2-R","article-title":"Mental retardation, \u201ccoarse\u201d face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome","volume":"75","author":"Van Balkom","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1086\/515582_bib8","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1002\/ajmg.1523","article-title":"Possible case of Pitt-Hopkins syndrome in sibs","volume":"103","author":"Orrico","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1086\/515582_bib9","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1097\/01.mcd.0000184973.14775.32","article-title":"Pitt-Hopkins syndrome in two patients and further definition of the phenotype","volume":"15","author":"Peippo","year":"2006","journal-title":"Clin Dysmorphol"},{"key":"10.1086\/515582_bib10","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1136\/jmg.2003.017731","article-title":"Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability\/mental retardation and dysmorphic features","volume":"41","author":"Shaw-Smith","year":"2004","journal-title":"J Med Genet"},{"key":"10.1086\/515582_bib11","doi-asserted-by":"crossref","first-page":"6538","DOI":"10.1128\/MCB.18.11.6538","article-title":"Identification and characterization of a family of mammalian methyl-CpG binding proteins","volume":"18","author":"Hendrich","year":"1998","journal-title":"Molec Cell Biol"},{"key":"10.1086\/515582_bib12","doi-asserted-by":"crossref","first-page":"467","DOI":"10.1126\/science.2105528","article-title":"Two distinct transcription factors that bind the immunoglobulin enhancer microE5\/kappa 2 motif","volume":"247","author":"Henthron","year":"1990","journal-title":"Science"},{"key":"10.1086\/515582_bib13","doi-asserted-by":"crossref","first-page":"6084","DOI":"10.1128\/JVI.65.11.6084-6093.1991","article-title":"Helix-loop-helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers","volume":"65","author":"Corneliussen","year":"1991","journal-title":"J Virol"},{"key":"10.1086\/515582_bib14","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1016\/0092-8674(89)90434-0","article-title":"Interactions between heterologous helix-loop-helix proteins generate complexes that bind specifically to a common DNA sequence","volume":"58","author":"Murre","year":"1989","journal-title":"Cell"},{"key":"10.1086\/515582_bib15","doi-asserted-by":"crossref","first-page":"4555","DOI":"10.1093\/nar\/19.16.4555","article-title":"HTF4: a new human helix-loop-helix protein","volume":"19","author":"Zhang","year":"1991","journal-title":"Nucleic Acids Res"},{"key":"10.1086\/515582_bib16","doi-asserted-by":"crossref","first-page":"777","DOI":"10.1016\/0092-8674(89)90682-X","article-title":"A new DNA binding and dimerization motif in immunoglobulin enhancer binding, daughterless, MyoD, and myc proteins","volume":"56","author":"Murre","year":"1989","journal-title":"Cell"},{"key":"10.1086\/515582_bib17","first-page":"1376","article-title":"Class A helix-loop-helix proteins are positive regulators of several cyclin-dependent kinase inhibitors\u2019 promoter activity and negatively affect cell growth","volume":"60","author":"Pagliuca","year":"2000","journal-title":"Cancer Res"},{"key":"10.1086\/515582_bib18","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1016\/S1535-6108(02)00035-1","article-title":"ITF-2, a downstream target of the Wnt\/TCF pathway, is activated in human cancers with \u03b2-catenin defects and promotes neoplastic transformation","volume":"1","author":"Kolligs","year":"2002","journal-title":"Cancer Cell"},{"key":"10.1086\/515582_bib19","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/0092-8674(94)90159-7","article-title":"Crystal structure of MyoD bHLH domain-DNA complex: perspectives on DNA recognition and implications for transcriptional activation","volume":"77","author":"Ma","year":"1994","journal-title":"Cell"},{"key":"10.1086\/515582_bib20","doi-asserted-by":"crossref","first-page":"3340","DOI":"10.1128\/MCB.18.6.3340","article-title":"Functional replacement of the mouse E2A gene with a human HEB cDNA","volume":"18","author":"Zhuang","year":"1998","journal-title":"Mol Cell Biol"},{"key":"10.1086\/515582_bib21","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.gene.2004.05.022","article-title":"A BMAL1 mutant with arginine 91 substituted with alanine acts as a dominant negative inhibitor","volume":"338","author":"Hosoda","year":"2004","journal-title":"Gene"},{"key":"10.1086\/515582_bib22","doi-asserted-by":"crossref","first-page":"2898","DOI":"10.1128\/MCB.16.6.2898","article-title":"B-lymphocyte development is regulated by the combined dosage of three basic helix-loop-helix genes, E2A, E2-2, and HEB","volume":"16","author":"Zhuang","year":"1996","journal-title":"Mol Cell Biol"},{"key":"10.1086\/515582_bib23","doi-asserted-by":"crossref","first-page":"2857","DOI":"10.1002\/1521-4141(200010)30:10<2857::AID-IMMU2857>3.0.CO;2-G","article-title":"The basic helix-loop-helix transcription factor E2-2 is involved in T lymphocyte development","volume":"30","author":"Bergqvist","year":"2000","journal-title":"Eur J Immunol"},{"key":"10.1086\/515582_bib24","doi-asserted-by":"crossref","first-page":"5648","DOI":"10.1073\/pnas.90.12.5648","article-title":"Identification of a human achaete-scute homolog highly expressed in neuroendocrine tumors","volume":"90","author":"Ball","year":"1993","journal-title":"Proc Nat Acad Sci"},{"key":"10.1086\/515582_bib25","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1006\/bbrc.2000.3090","article-title":"HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex","volume":"274","author":"Persson","year":"2000","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1086\/515582_bib26","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/0092-8674(93)90381-Y","article-title":"Mammalian achaete-scute homolog 1 is required for the early development of olfactory and autonomic neurons","volume":"75","author":"Guillemot","year":"1993","journal-title":"Cell"},{"key":"10.1086\/515582_bib27","doi-asserted-by":"crossref","first-page":"3173","DOI":"10.1093\/hmg\/ddg339","article-title":"Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine\u2019s curse)","volume":"12","author":"de Pontual","year":"2003","journal-title":"Hum Molec Genet"},{"key":"10.1086\/515582_bib28","doi-asserted-by":"crossref","first-page":"4431","DOI":"10.1073\/pnas.90.10.4431","article-title":"The HOX11 gene encodes a DNA-binding nuclear transcription factor belonging to a distinct family of homeobox genes","volume":"90","author":"Dear","year":"1993","journal-title":"Proc Nat Acad Sci"},{"key":"10.1086\/515582_bib29","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1038\/73516","article-title":"Rnx deficiency results in congenital central hypoventilation","volume":"24","author":"Shirasawa","year":"2000","journal-title":"Nat Genet"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707609550?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707609550?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,4,21]],"date-time":"2020-04-21T06:16:45Z","timestamp":1587449805000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707609550"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2007,5]]}},"alternative-id":["S0002929707609550"],"URL":"https:\/\/doi.org\/10.1086\/515582","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2007,5]]}}}