{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T04:55:15Z","timestamp":1791176115888,"version":"4.1.0"},"reference-count":49,"publisher":"Hindawi Limited","issue":"12","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":1131,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Hum. Mutat."],"published-print":{"date-parts":[[2012,12]]},"DOI":"10.1002\/humu.22160","type":"journal-article","created":{"date-parts":[[2012,7,6]],"date-time":"2012-07-06T15:11:35Z","timestamp":1341587495000},"page":"1676-1686","source":"Crossref","is-referenced-by-count":75,"title":["Functional analysis of<i>TCF4<\/i>missense mutations that cause Pitt-Hopkins syndrome"],"prefix":"10.1155","volume":"33","author":[{"given":"Marc","family":"Forrest","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ria M.","family":"Chapman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Michelle","family":"Doyle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline L.","family":"Tinsley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian","family":"Waite","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek J.","family":"Blake","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"98","published-online":{"date-parts":[[2012,7,27]]},"reference":[{"key":"10.1002\/humu.22160-BIB1|cit1","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1016\/j.ajhg.2007.09.005","article-title":"Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene","volume":"82","author":"Alarcon","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22160-BIB2|cit2","doi-asserted-by":"crossref","first-page":"988","DOI":"10.1086\/515582","article-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","volume":"80","author":"Amiel","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22160-BIB3|cit3","doi-asserted-by":"crossref","first-page":"8063","DOI":"10.1073\/pnas.90.17.8063","article-title":"The E2A gene product contains two separable and functionally distinct transcription activation domains","volume":"90","author":"Aronheim","year":"1993","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22160-BIB4|cit4","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/0092-8674(90)90214-Y","article-title":"The protein Id: a negative regulator of helix-loop-helix DNA binding proteins","volume":"61","author":"Benezra","year":"1990","journal-title":"Cell"},{"key":"10.1002\/humu.22160-BIB5|cit5","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1038\/nrn874","article-title":"Proneural genes and the specification of neural cell types","volume":"3","author":"Bertrand","year":"2002","journal-title":"Nat Rev Neurosci"},{"key":"10.1002\/humu.22160-BIB6|cit6","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1093\/schbul\/sbq035","article-title":"TCF4, schizophrenia, and Pitt-Hopkins Syndrome","volume":"36","author":"Blake","year":"2010","journal-title":"Schizophr Bull"},{"key":"10.1002\/humu.22160-BIB7|cit7","doi-asserted-by":"crossref","first-page":"1488","DOI":"10.1093\/hmg\/ddm099","article-title":"Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4","volume":"16","author":"Brockschmidt","year":"2007","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22160-BIB8|cit8","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.biopsych.2010.03.015","article-title":"Cognitive and sensorimotor gating impairments in transgenic mice overexpressing the schizophrenia susceptibility gene Tcf4 in the brain","volume":"68","author":"Brzozka","year":"2010","journal-title":"Biol Psychiatry"},{"key":"10.1002\/humu.22160-BIB9|cit9","doi-asserted-by":"crossref","first-page":"930","DOI":"10.1101\/gad.627811","article-title":"A novel function of the proneural factor Ascl1 in progenitor proliferation identified by genome-wide characterization of its targets","volume":"25","author":"Castro","year":"2011","journal-title":"Genes Dev"},{"key":"10.1002\/humu.22160-BIB10|cit10","doi-asserted-by":"crossref","first-page":"831","DOI":"10.1016\/j.devcel.2006.10.006","article-title":"Proneural bHLH and Brn proteins coregulate a neurogenic program through cooperative binding to a conserved DNA motif","volume":"11","author":"Castro","year":"2006","journal-title":"Dev Cell"},{"key":"10.1002\/humu.22160-BIB11|cit11","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":"10.1002\/humu.22160-BIB12|cit12","doi-asserted-by":"crossref","first-page":"22","DOI":"10.2174\/1875397300903010022","article-title":"HTRF: a technology tailored for drug discovery-a review of theoretical aspects and recent applications","volume":"3","author":"Degorce","year":"2009","journal-title":"Curr Chem Genomics"},{"key":"10.1002\/humu.22160-BIB13|cit13","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1002\/humu.20935","article-title":"Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome","volume":"30","author":"de Pontual","year":"2009","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22160-BIB14|cit14","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1038\/mp.2009.57","article-title":"Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes","volume":"15","author":"Elia","year":"2010","journal-title":"Mol Psychiatry"},{"key":"10.1002\/humu.22160-BIB15|cit15","doi-asserted-by":"crossref","first-page":"15382","DOI":"10.1073\/pnas.0707456104","article-title":"The E-protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors","volume":"104","author":"Flora","year":"2007","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1002\/humu.22160-BIB16|cit16","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1038\/sj.mp.4002049","article-title":"CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy","volume":"13","author":"Friedman","year":"2008","journal-title":"Mol Psychiatry"},{"key":"10.1002\/humu.22160-BIB17|cit17","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":"Henthorn","year":"1990","journal-title":"Science"},{"key":"10.1002\/humu.22160-BIB18|cit18","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.bbrc.2008.03.081","article-title":"A conserved domain in the transcription factor ITF-2B attenuates its activity","volume":"370","author":"Herbst","year":"2008","journal-title":"Biochem Biophys Res Commun"},{"key":"10.1002\/humu.22160-BIB19|cit19","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1093\/schbul\/sbp079","article-title":"Neurexin 1 (NRXN1) deletions in schizophrenia","volume":"35","author":"Kirov","year":"2009","journal-title":"Schizophr Bull"},{"key":"10.1002\/humu.22160-BIB20|cit20","doi-asserted-by":"crossref","first-page":"19785","DOI":"10.1074\/jbc.272.32.19785","article-title":"Differential interactions of Id proteins with basic-helix-loop-helix transcription factors","volume":"272","author":"Langlands","year":"1997","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22160-BIB21|cit21","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/nature04895","article-title":"Degradation of Id2 by the anaphase-promoting complex couples cell cycle exit and axonal growth","volume":"442","author":"Lasorella","year":"2006","journal-title":"Nature"},{"key":"10.1002\/humu.22160-BIB22|cit22","doi-asserted-by":"crossref","first-page":"RESEARCH0030","DOI":"10.1186\/gb-2002-3-6-research0030","article-title":"Phylogenetic analysis of the human basic helix-loop-helix proteins","volume":"3","author":"Ledent","year":"2002","journal-title":"Genome Biol"},{"key":"10.1002\/humu.22160-BIB23|cit23","first-page":"1685","article-title":"Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. American journal of medical genetics","volume":"155A","author":"Lehalle","year":"2011","journal-title":"Part A"},{"key":"10.1002\/humu.22160-BIB24|cit24","doi-asserted-by":"crossref","first-page":"15824","DOI":"10.1074\/jbc.M313639200","article-title":"Molecular determinants involved in the allosteric control of agonist affinity in the GABAB receptor by the GABAB2 subunit","volume":"279","author":"Liu","year":"2004","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22160-BIB25|cit25","doi-asserted-by":"crossref","first-page":"19269","DOI":"10.1074\/jbc.273.30.19269","article-title":"A splice variant of E2-2 basic helix-loop-helix protein represses the brain-specific fibroblast growth factor 1 promoter through the binding to an imperfect E-box","volume":"273","author":"Liu","year":"1998","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22160-BIB26|cit26","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1021\/bi701527r","article-title":"Crystal structure of E47-NeuroD1\/beta2 bHLH domain-DNA complex: heterodimer selectivity and DNA recognition","volume":"47","author":"Longo","year":"2008","journal-title":"Biochemistry"},{"key":"10.1002\/humu.22160-BIB27|cit27","doi-asserted-by":"crossref","first-page":"295","DOI":"10.1016\/j.tig.2011.05.006","article-title":"Biogenesis and function of nuclear bodies","volume":"27","author":"Mao","year":"2011","journal-title":"Trends Genet"},{"key":"10.1002\/humu.22160-BIB28|cit28","doi-asserted-by":"crossref","first-page":"1536","DOI":"10.1002\/ajmg.a.34070","article-title":"The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria","volume":"155A","author":"Marangi","year":"2011","journal-title":"Am J Med Genet A"},{"key":"10.1002\/humu.22160-BIB29|cit29","doi-asserted-by":"crossref","first-page":"6469","DOI":"10.1074\/jbc.M110659200","article-title":"Enhancer-specific modulation of E protein activity","volume":"277","author":"Markus","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1002\/humu.22160-BIB30|cit30","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1128\/MCB.20.2.429-440.2000","article-title":"Helix-loop-helix proteins: regulators of transcription in eucaryotic organisms","volume":"20","author":"Massari","year":"2000","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.22160-BIB31|cit31","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1016\/j.cell.2011.08.040","article-title":"Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits","volume":"147","author":"Penagarikano","year":"2011","journal-title":"Cell"},{"key":"10.1002\/humu.22160-BIB32|cit32","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":"10.1002\/humu.22160-BIB33|cit33","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":"10.1002\/humu.22160-BIB34|cit34","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/j.gde.2008.07.012","article-title":"Context dependence of proneural bHLH proteins","volume":"18","author":"Powell","year":"2008","journal-title":"Curr Opin Genet Dev"},{"key":"10.1002\/humu.22160-BIB35|cit35","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1128\/MCB.13.2.792","article-title":"A new transcriptional-activation motif restricted to a class of helix-loop-helix proteins is functionally conserved in both yeast and mammalian cells","volume":"13","author":"Quong","year":"1993","journal-title":"Mol Cell Biol"},{"key":"10.1002\/humu.22160-BIB36|cit36","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1002\/jnr.21615","article-title":"E protein dosage influences brain development more than family member identity","volume":"86","author":"Ravanpay","year":"2008","journal-title":"J Neurosci Res"},{"key":"10.1002\/humu.22160-BIB37|cit37","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1038\/ng.940","article-title":"Genome-wide association study identifies five new schizophrenia loci","volume":"43","author":"Ripke","year":"2011","journal-title":"Nat Genet"},{"key":"10.1002\/humu.22160-BIB38|cit38","doi-asserted-by":"crossref","first-page":"9976","DOI":"10.1073\/pnas.0603728103","article-title":"Gene expression patterns define novel roles for E47 in cell cycle progression, cytokine-mediated signaling, and T lineage development","volume":"103","author":"Schwartz","year":"2006","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1002\/humu.22160-BIB39|cit39","doi-asserted-by":"crossref","first-page":"e22138","DOI":"10.1371\/journal.pone.0022138","article-title":"Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5\u2032 exon usage and splicing","volume":"6","author":"Sepp","year":"2011","journal-title":"PLoS One"},{"key":"10.1002\/humu.22160-BIB40|cit40","doi-asserted-by":"crossref","first-page":"2873","DOI":"10.1093\/hmg\/dds112","article-title":"Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects","volume":"21","author":"Sepp","year":"2012","journal-title":"Hum Mol Genet"},{"key":"10.1002\/humu.22160-BIB41|cit41","doi-asserted-by":"crossref","first-page":"744","DOI":"10.1038\/nature08186","article-title":"Common variants conferring risk of schizophrenia","volume":"460","author":"Stefansson","year":"2009","journal-title":"Nature"},{"key":"10.1002\/humu.22160-BIB42|cit42","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1399-0004.2010.01380.x","article-title":"Two percent of patients suspected of having Angelman syndrome have TCF4 mutations","volume":"78","author":"Takano","year":"2010","journal-title":"Clin Genet"},{"key":"10.1002\/humu.22160-BIB43|cit43","doi-asserted-by":"crossref","first-page":"4138","DOI":"10.1182\/blood-2009-05-223057","article-title":"Inhibition of endothelial cell activation by bHLH protein E2-2 and its impairment of angiogenesis","volume":"115","author":"Tanaka","year":"2010","journal-title":"Blood"},{"key":"10.1002\/humu.22160-BIB44|cit44","doi-asserted-by":"crossref","first-page":"4722","DOI":"10.1073\/pnas.87.12.4722","article-title":"Mutations that disrupt DNA binding and dimer formation in the E47 helix-loop-helix protein map to distinct domains","volume":"87","author":"Voronova","year":"1990","journal-title":"Proc Nat Acad Sci USA"},{"key":"10.1002\/humu.22160-BIB45|cit45","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/sj.cr.7310076","article-title":"Visualization of bHLH transcription factor interactions in living mammalian cell nuclei and developing chicken neural tube by FRET","volume":"16","author":"Wang","year":"2006","journal-title":"Cell Res"},{"key":"10.1002\/humu.22160-BIB46|cit46","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1002\/humu.21639","article-title":"Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum","volume":"33","author":"Whalen","year":"2012","journal-title":"Hum Mutat"},{"key":"10.1002\/humu.22160-BIB47|cit47","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1016\/j.ajhg.2009.10.004","article-title":"CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila","volume":"85","author":"Zweier","year":"2009","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22160-BIB48|cit48","doi-asserted-by":"crossref","first-page":"994","DOI":"10.1086\/515583","article-title":"Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)","volume":"80","author":"Zweier","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1002\/humu.22160-BIB49|cit49","doi-asserted-by":"crossref","first-page":"738","DOI":"10.1136\/jmg.2008.060129","article-title":"Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients","volume":"45","author":"Zweier","year":"2008","journal-title":"J Med Genet"}],"container-title":["Human Mutation"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fhumu.22160","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/onlinelibrary.wiley.com\/wol1\/doi\/10.1002\/humu.22160\/fullpdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,12,29]],"date-time":"2022-12-29T16:53:01Z","timestamp":1672332781000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/humu.22160"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,7,27]]},"references-count":49,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2012,12]]}},"URL":"https:\/\/doi.org\/10.1002\/humu.22160","relation":{},"ISSN":["1059-7794"],"issn-type":[{"value":"1059-7794","type":"print"}],"subject":[],"published":{"date-parts":[[2012,7,27]]}}}