{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T05:55:39Z","timestamp":1778219739185,"version":"3.51.4"},"reference-count":127,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T00:00:00Z","timestamp":1748736000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"name":"The Polish Ministry of Science and Higher Education for the Faculty of Chemistry of Wroclaw University of Science and Technology"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cell Commun Signal"],"DOI":"10.1186\/s12964-025-02265-1","type":"journal-article","created":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T19:35:24Z","timestamp":1748806524000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["An attempt to explain what intrinsically disordered TCF4 does in its spare time when PTHS-related mutations prevent it from doing its job"],"prefix":"10.1186","volume":"23","author":[{"given":"Nikola","family":"Soza\u0144ska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viktoryia","family":"Krupnik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Greb-Markiewicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrzej","family":"O\u017cyhar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aneta","family":"Tarczewska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,6,1]]},"reference":[{"key":"2265_CR1","doi-asserted-by":"publisher","DOI":"10.1111\/jpc.1978.14.3.182","author":"D Pitt","year":"1978","unstructured":"Pitt D, Hopkins IA. Syndrome of mental retardation, wide mouth and intermittent overbreathing. Aust Paediatr J. 1978. https:\/\/doi.org\/10.1111\/jpc.1978.14.3.182.","journal-title":"Aust Paediatr J"},{"key":"2265_CR2","unstructured":"Sweetser DA, Elsharkawi I, Yonker L, Steeves M, Parkin K, Thibert R, Pitt-Hopkins S, Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya. A., Eds.; 2018."},{"key":"2265_CR3","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1002\/humu.20859","volume":"29","author":"I Giurgea","year":"2008","unstructured":"Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, et al. TCF4 deletions in Pitt-Hopkins syndrome. Hum Mutat. 2008;29:242\u201351. https:\/\/doi.org\/10.1002\/humu.20859.","journal-title":"Hum Mutat"},{"key":"2265_CR4","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1016\/j.ejmg.2010.08.005","volume":"53","author":"DJ Stavropoulos","year":"2010","unstructured":"Stavropoulos DJ, MacGregor DL, Yoon G. Mosaic microdeletion 18q21 as a cause of mental retardation. Eur J Med Genet. 2010;53:396\u20139. https:\/\/doi.org\/10.1016\/j.ejmg.2010.08.005.","journal-title":"Eur J Med Genet"},{"key":"2265_CR5","doi-asserted-by":"publisher","first-page":"3174","DOI":"10.1002\/ajmg.a.35588","volume":"158 A","author":"M Rossi","year":"2012","unstructured":"Rossi M, Labalme A, Cordier MP, Till M, Blanchard G, Dubois R, Guibaud L, Heissat S, Javouhey E, Lachaux A, et al. Mosaic 18q21.2 deletions including the TCF4 gene: A clinical report. Am J Med Genet Part A. 2012;158 A:3174\u201381. https:\/\/doi.org\/10.1002\/ajmg.a.35588.","journal-title":"Am J Med Genet Part A"},{"key":"2265_CR6","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-016-0422-2","author":"CF De Winter","year":"2016","unstructured":"De Winter CF, Baas M, Bijlsma EK, Van Heukelingen J, Routledge S, Hennekam RCM. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. Orphanet J Rare Dis. 2016. https:\/\/doi.org\/10.1186\/s13023-016-0422-2.","journal-title":"Orphanet J Rare Dis"},{"key":"2265_CR7","doi-asserted-by":"publisher","first-page":"738","DOI":"10.1136\/jmg.2008.060129","volume":"45","author":"C Zweier","year":"2008","unstructured":"Zweier C, Sticht H, Bijlsma EK, Clayton-Smith J, Boonen SE, Fryer A, Greally MT, Hoffmann L, den Hollander NS, Jongmans M, et al. Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. J Med Genet. 2008;45:738\u201344. https:\/\/doi.org\/10.1136\/jmg.2008.060129.","journal-title":"J Med Genet"},{"key":"2265_CR8","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1177\/0883073817750490","volume":"33","author":"K Goodspeed","year":"2018","unstructured":"Goodspeed K, Newsom C, Morris MA, Powell C, Evans P, Golla S. Pitt-Hopkins syndrome: A review of current literature, clinical approach, and 23-Patient case series. J Child Neurol. 2018;33:233\u201344. https:\/\/doi.org\/10.1177\/0883073817750490.","journal-title":"J Child Neurol"},{"key":"2265_CR9","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1002\/humu.21639","volume":"33","author":"S Whalen","year":"2012","unstructured":"Whalen S, H\u00e9ron D, Gaillon T, Moldovan O, Rossi M, Devillard F, Giuliano F, Soares G, Mathieu-Dramard M, Afenjar A, et al. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Hum Mutat. 2012;33:64\u201372. https:\/\/doi.org\/10.1002\/humu.21639.","journal-title":"Hum Mutat"},{"key":"2265_CR10","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20859","author":"I Giurgea","year":"2008","unstructured":"Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, et al. TCF4 deletions in Pitt-Hopkins syndrome. Hum Mutat. 2008. https:\/\/doi.org\/10.1002\/humu.20859.","journal-title":"Hum Mutat"},{"key":"2265_CR11","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1111\/j.1399-0004.2012.01857.x","volume":"83","author":"C Steinbusch","year":"2013","unstructured":"Steinbusch C, van Roozendaal K, Tserpelis D, Smeets E, Kranenburg-de Koning T, de Waal K, Zweier C, Rauch A, Hennekam R, Blok M, et al. Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. Clin Genet. 2013;83:73\u20137. https:\/\/doi.org\/10.1111\/j.1399-0004.2012.01857.x.","journal-title":"Clin Genet"},{"key":"2265_CR12","doi-asserted-by":"publisher","first-page":"1585","DOI":"10.1177\/0883073811435917","volume":"27","author":"I Maini","year":"2012","unstructured":"Maini I, Cantalupo G, Turco EC, Paolis F, De; Magnani C, Parrino L, Terzano MG, Pisani F. Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. J Child Neurol. 2012;27:1585\u20138. https:\/\/doi.org\/10.1177\/0883073811435917.","journal-title":"J Child Neurol"},{"key":"2265_CR13","doi-asserted-by":"publisher","first-page":"1536","DOI":"10.1002\/ajmg.a.34070","volume":"155","author":"G Marangi","year":"2011","unstructured":"Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, et al. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Am J Med Genet Part A. 2011;155:1536\u201345. https:\/\/doi.org\/10.1002\/ajmg.a.34070.","journal-title":"Am J Med Genet Part A"},{"key":"2265_CR14","doi-asserted-by":"publisher","first-page":"669","DOI":"10.1002\/humu.20935","volume":"30","author":"L De Pontual","year":"2009","unstructured":"De Pontual L, Mathieu Y, Golzio C, Rio M, Malan V, Boddaert N, Soufflet C, Picard C, Durandy A, Dobbie A, et al. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat. 2009;30:669\u201376. https:\/\/doi.org\/10.1002\/humu.20935.","journal-title":"Hum Mutat"},{"key":"2265_CR15","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181bd38a9","author":"JA Rosenfeld","year":"2009","unstructured":"Rosenfeld JA, Leppig K, Ballif BC, Thiese H, Erdie-Lalena C, Bawle E, Sastry S, Spence JE, Bandholz A, Surti U, et al. Genotype-Phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. Genet Med. 2009. https:\/\/doi.org\/10.1097\/GIM.0b013e3181bd38a9.","journal-title":"Genet Med"},{"key":"2265_CR16","doi-asserted-by":"publisher","first-page":"1","DOI":"10.7759\/cureus.43781","volume":"15","author":"F Comisi","year":"2023","unstructured":"Comisi F, Esposito E, Marras M, Soddu C, Savasta S. Unusual inconsolable crying: an insight, case report, and review of the literature on the Pitt-Hopkins Gastrointestinal phenotype. Cureus. 2023;15:1\u20136. https:\/\/doi.org\/10.7759\/cureus.43781.","journal-title":"Cureus"},{"key":"2265_CR17","doi-asserted-by":"publisher","first-page":"988","DOI":"10.1086\/515582","volume":"80","author":"J Amiel","year":"2007","unstructured":"Amiel J, Rio M, Pontual L. 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. Am J Hum Genet. 2007;80:988\u201393. https:\/\/doi.org\/10.1086\/515582. RedonR.Malan, V.; Boddaert, N.; Plouin, P.; Carter, N.P.; Lyonnet, S.; Munnich, A.; et al.","journal-title":"Am J Hum Genet"},{"key":"2265_CR18","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1111\/j.1399-0004.2010.01380.x","volume":"78","author":"K Takano","year":"2010","unstructured":"Takano K, Lyons M, Moyes C, Jones J, Schwartz CE. 2% of patients suspected of having Angelman syndrome have TCF4 mutations. Clin Genet. 2010;78:282\u20138. https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01380.x.","journal-title":"Clin Genet"},{"key":"2265_CR19","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/j.ejmg.2007.12.002","volume":"51","author":"J Andrieux","year":"2008","unstructured":"Andrieux J, Lepretre F, Cuisset JM, Goldenberg A, Delobel B, Manouvrier-Hanu S, Holder-Espinasse M. Deletion 18q21.2q21.32 involving TCF4 in a Boy diagnosed by CGH-Array. Eur J Med Genet. 2008;51:172\u20137. https:\/\/doi.org\/10.1016\/j.ejmg.2007.12.002.","journal-title":"Eur J Med Genet"},{"key":"2265_CR20","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1002\/ajmg.1523","volume":"103","author":"A Orrico","year":"2001","unstructured":"Orrico A, Galli L, Zappella M, Lam C-W, Bonifacio S, Torricelli F, Hayek G. Possible case of Pitt-Hopkins syndrome in Sibs. Am J Med Genet. 2001;103:157\u20139. https:\/\/doi.org\/10.1002\/ajmg.1523.","journal-title":"Am J Med Genet"},{"key":"2265_CR21","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1097\/01.mcd.0000184973.14775.32","volume":"15","author":"MM Peippo","year":"2006","unstructured":"Peippo MM, Simola KOJ, Valanne LK, Larsen AT, K\u00e4hk\u00f6nen M, Auranen MP, Ignatius J. Pitt\u2013Hopkins syndrome in two patients and further definition of the phenotype. Clin Dysmorphol. 2006;15:47\u201354. https:\/\/doi.org\/10.1097\/01.mcd.0000184973.14775.32.","journal-title":"Clin Dysmorphol"},{"key":"2265_CR22","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1056\/NEJMoa052773","volume":"354","author":"KA Strauss","year":"2006","unstructured":"Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, Morton DH. Recessive symptomatic focal epilepsy and mutant Contactin-Associated Protein-like 2. N Engl J Med. 2006;354:1370\u20137. https:\/\/doi.org\/10.1056\/NEJMoa052773.","journal-title":"N Engl J Med"},{"key":"2265_CR23","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1016\/j.ajhg.2009.10.004","volume":"85","author":"C Zweier","year":"2009","unstructured":"Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MAW, Ekici AB, Reis A, et al. CNTNAP2 and NRXN1 are mutated in Autosomal-Recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet. 2009;85:655\u201366. https:\/\/doi.org\/10.1016\/j.ajhg.2009.10.004.","journal-title":"Am J Hum Genet"},{"key":"2265_CR24","doi-asserted-by":"publisher","first-page":"820","DOI":"10.1136\/jmedgenet-2016-103880","volume":"53","author":"M Smogavec","year":"2016","unstructured":"Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne M-C, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, et al. Eight further individuals with intellectual disability and epilepsy carrying Bi-Allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. J Med Genet. 2016;53:820\u20137. https:\/\/doi.org\/10.1136\/jmedgenet-2016-103880.","journal-title":"J Med Genet"},{"key":"2265_CR25","doi-asserted-by":"publisher","unstructured":"Marangi G, Ricciardi S, Orteschi D, Tenconi R, Monica M, Della; Scarano G, Battaglia D, Lettori D, Vasco G, Zollino M. Proposal of a Clinical Score for the Molecular Test for Pitt-Hopkins Syndrome. Am. J. Med. Genet. Part A. 2012;158(A):1604\u20131611. https:\/\/doi.org\/10.1002\/ajmg.a.35419","DOI":"10.1002\/ajmg.a.35419"},{"key":"2265_CR26","doi-asserted-by":"crossref","unstructured":"Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M et al. Diagnosis and management in Pitt-Hopkins syndrome: first international consensus statement. Clin Genet. 2019.","DOI":"10.1111\/cge.13506"},{"key":"2265_CR27","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1002\/ajmg.a.31074","volume":"140A","author":"CA Williams","year":"2006","unstructured":"Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, et al. Angelman syndrome 2005: updated consensus for diagnostic criteria. Am J Med Genet Part A. 2006;140A:413\u20138. https:\/\/doi.org\/10.1002\/ajmg.a.31074.","journal-title":"Am J Med Genet Part A"},{"key":"2265_CR28","doi-asserted-by":"publisher","first-page":"994","DOI":"10.1086\/515583","volume":"80","author":"C Zweier","year":"2007","unstructured":"Zweier C, Peippo MM, Hoyer J, Sousa S, Bottani A, Clayton-Smith J, Reardon W, Saraiva J, Cabral A, G\u00f6hring I, et al. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins Syndrome). Am J Hum Genet. 2007;80:994\u20131001. https:\/\/doi.org\/10.1086\/515583.","journal-title":"Am J Hum Genet"},{"key":"2265_CR29","first-page":"2241","volume":"5","author":"L Brandl","year":"2015","unstructured":"Brandl L, Horst D, de Toni E, Kirchner T, Herbst A, Kolligs FT. ITF-2B protein levels are correlated with favorable prognosis in patients with colorectal carcinomas. Am J Cancer Res. 2015;5:2241\u20138.","journal-title":"Am J Cancer Res"},{"key":"2265_CR30","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1110\/ps.28401","volume":"10","author":"G Larsson","year":"2001","unstructured":"Larsson G, Schleucher J, Onions J, Hermann S, Grundstr\u00f6m T, Wijmenga SS. A novel target recognition revealed by calmodulin in complex with the basic Helix\u2013Loop\u2013Helix transcription factor SEF2-1\/E2\u20102. Protein Sci. 2001;10:169\u201386. https:\/\/doi.org\/10.1110\/ps.28401.","journal-title":"Protein Sci"},{"key":"2265_CR31","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1128\/mcb.13.2.792","volume":"13","author":"MW Quong","year":"1993","unstructured":"Quong MW, Massari ME, Zwart R, Murre CA. New Transcriptional-Activation motif restricted to a class of Helix-Loop-Helix proteins is functionally conserved in both yeast and mammalian cells. Mol Cell Biol. 1993;13:792\u2013800. https:\/\/doi.org\/10.1128\/mcb.13.2.792.","journal-title":"Mol Cell Biol"},{"key":"2265_CR32","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1128\/mcb.20.2.429-440.2000","volume":"20","author":"ME Massari","year":"2000","unstructured":"Massari ME, Murre C, Helix-Loop-Helix P. Regulators of transcription in eucaryotic. Mol Cell Biol. 2000;20:429\u201340. https:\/\/doi.org\/10.1128\/mcb.20.2.429-440.2000.","journal-title":"Mol Cell Biol"},{"key":"2265_CR33","doi-asserted-by":"publisher","first-page":"322","DOI":"10.1016\/j.molmed.2014.01.010","volume":"20","author":"MP Forrest","year":"2014","unstructured":"Forrest MP, Hill MJ, Quantock AJ, Martin-Rendon E, Blake DJ. The emerging roles of TCF4 in disease and development. Trends Mol Med. 2014;20:322\u201331. https:\/\/doi.org\/10.1016\/j.molmed.2014.01.010.","journal-title":"Trends Mol Med"},{"key":"2265_CR34","doi-asserted-by":"publisher","unstructured":"Sepp M, Kannike K, Eesmaa A, Urb M. Functional diversity of human basic Helix-Loop-Helix transcription factor TCF4 isoforms generated by alternative 5 9 exon usage and splicing. PLoS ONE. 2011;6. https:\/\/doi.org\/10.1371\/journal.pone.0022138.","DOI":"10.1371\/journal.pone.0022138"},{"key":"2265_CR35","doi-asserted-by":"publisher","unstructured":"Ephrussi A, Church GM, Tonegawa S, Gilbert W. B Lineage\u2014Specific Interactions of an Immunoglobulin Enhancer with Cellular Factors in Vivo. Science (80-.). 1985;227:134\u2013140. https:\/\/doi.org\/10.1126\/science.3917574","DOI":"10.1126\/science.3917574"},{"key":"2265_CR36","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1101\/gad.8.8.970","volume":"8","author":"T Ellenberger","year":"1994","unstructured":"Ellenberger T, Arnaud M, Harrison SC. Crystal structure of transcription factor E47: E-Box recognition by a basic region Helix-Loop-Helix dimer. Genes Dev. 1994;8:970\u201380. https:\/\/doi.org\/10.1101\/gad.8.8.970.","journal-title":"Genes Dev"},{"key":"2265_CR37","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1016\/0092-8674(89)90434-0","volume":"58","author":"C Murre","year":"1989","unstructured":"Murre C, McCaw PS, Vaessin H, Caudy M, Jan LY, Jan YN, Cabrera CV, Buskin JN, Hauschka SD, Lassar AB, et al. Interactions between heterologous Helix-Loop-Helix proteins generate complexes that bind specifically to a common DNA sequence. Cell. 1989;58:537\u201344. https:\/\/doi.org\/10.1016\/0092-8674(89)90434-0.","journal-title":"Cell"},{"key":"2265_CR38","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1126\/science.2105528","volume":"247","author":"P Henthorn","year":"1990","unstructured":"Henthorn P, Kiledjian M, Kadesch T. Two distinct transcription factors that bind the Immunoglobulin enhancer \u039cE5\/\u039aE2 motif. Sci (80-). 1990;247:467\u201370. https:\/\/doi.org\/10.1126\/science.2105528.","journal-title":"Sci (80-)"},{"key":"2265_CR39","doi-asserted-by":"publisher","first-page":"6084","DOI":"10.1128\/jvi.65.11.6084-6093.1991","volume":"65","author":"B Corneliussen","year":"1991","unstructured":"Corneliussen B, Thornell A, Hallberg B, Grundstr\u00f6m T. Helix-Loop-Helix transcriptional activators bind to a sequence in glucocorticoid response elements of retrovirus enhancers. J Virol. 1991;65:6084\u201393. https:\/\/doi.org\/10.1128\/jvi.65.11.6084-6093.1991.","journal-title":"J Virol"},{"key":"2265_CR40","doi-asserted-by":"publisher","first-page":"6680","DOI":"10.1002\/j.1460-2075.1996.tb01058.x","volume":"15","author":"A Pscherer","year":"1996","unstructured":"Pscherer A, D\u00f6rflinger U, Kirfel J, Gawlas K, R\u00fcschoff J, Buettner R, Sch\u00fcle R. The Helix-Loop-Helix transcription factor SEF-2 regulates the activity of a novel initiator element in the promoter of the human somatostatin receptor II gene. EMBO J. 1996;15:6680\u201390. https:\/\/doi.org\/10.1002\/j.1460-2075.1996.tb01058.x.","journal-title":"EMBO J"},{"key":"2265_CR41","doi-asserted-by":"publisher","first-page":"18453","DOI":"10.1016\/S0021-9258(17)32330-X","volume":"269","author":"SO Yoon","year":"1994","unstructured":"Yoon SO, Chikaraishi DM. Isolation of two E-Box binding factors that interact with the rat tyrosine hydroxylase enhancer. J Biol Chem. 1994;269:18453\u201362. https:\/\/doi.org\/10.1016\/S0021-9258(17)32330-X.","journal-title":"J Biol Chem"},{"key":"2265_CR42","doi-asserted-by":"publisher","unstructured":"Voronova A, Baltimore D, Mutations That Disrupt DNA. Binding and Dimer Formation in the E47 Helix-Loop-Helix Protein Map to Distinct Domains. Proc. Natl. Acad. Sci. U. S. A. 1990;87:4722\u20134726. https:\/\/doi.org\/10.1073\/pnas.87.12.4722","DOI":"10.1073\/pnas.87.12.4722"},{"key":"2265_CR43","doi-asserted-by":"publisher","first-page":"25095","DOI":"10.1074\/jbc.M004251200","volume":"275","author":"H Petropoulos","year":"2000","unstructured":"Petropoulos H, Skerjanc IS. Analysis of the Inhibition of myod activity by ITF-2B and Full-Length E12\/E47. J Biol Chem. 2000;275:25095\u2013101. https:\/\/doi.org\/10.1074\/jbc.M004251200.","journal-title":"J Biol Chem"},{"key":"2265_CR44","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1016\/j.bbrc.2005.08.050","volume":"336","author":"Y Lu","year":"2005","unstructured":"Lu Y, Sheng D-Q, Mo Z-C, Li H-F, Wu N-H, Shen Y-F. A negative regulatory Element-Dependent inhibitory role of ITF2B on IL-2 receptor \u03b1 gene. Biochem Biophys Res Commun. 2005;336:142\u20139. https:\/\/doi.org\/10.1016\/j.bbrc.2005.08.050.","journal-title":"Biochem Biophys Res Commun"},{"key":"2265_CR45","doi-asserted-by":"publisher","first-page":"28147","DOI":"10.1074\/jbc.M101626200","volume":"276","author":"M Furumura","year":"2001","unstructured":"Furumura M, Potterf SB, Toyofuku K, Matsunaga J, Muller J, Hearing VJ. Involvement of ITF2 in the transcriptional regulation of melanogenic genes. J Biol Chem. 2001;276:28147\u201354. https:\/\/doi.org\/10.1074\/jbc.M101626200.","journal-title":"J Biol Chem"},{"key":"2265_CR46","doi-asserted-by":"publisher","first-page":"1676","DOI":"10.1002\/humu.22160","volume":"33","author":"M Forrest","year":"2012","unstructured":"Forrest M, Chapman RM, Doyle AM, Tinsley CL, Waite A, Blake DJ. Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome. Hum Mutat. 2012;33:1676\u201386. https:\/\/doi.org\/10.1002\/humu.22160.","journal-title":"Hum Mutat"},{"key":"2265_CR47","doi-asserted-by":"publisher","DOI":"10.1093\/schbul\/sbx164","author":"MP Forrest","year":"2018","unstructured":"Forrest MP, Hill MJ, Kavanagh DH, Tansey KE, Waite AJ, Blake DJ. The psychiatric risk gene transcription factor 4 (TCF4) regulates neurodevelopmental pathways associated with schizophrenia, autism, and intellectual disability. Schizophr Bull. 2018. https:\/\/doi.org\/10.1093\/schbul\/sbx164.","journal-title":"Schizophr Bull"},{"key":"2265_CR48","doi-asserted-by":"publisher","first-page":"443","DOI":"10.1093\/schbul\/sbq035","volume":"36","author":"DJ Blake","year":"2010","unstructured":"Blake DJ, Forrest M, Chapman RM, Tinsley CL, O\u2019Donovan MC, Owen MJ. TCF4, schizophrenia, and Pitt-Hopkins syndrome. Schizophr Bull. 2010;36:443\u20137. https:\/\/doi.org\/10.1093\/schbul\/sbq035.","journal-title":"Schizophr Bull"},{"key":"2265_CR49","doi-asserted-by":"publisher","first-page":"15382","DOI":"10.1073\/pnas.0707456104","volume":"104","author":"A Flora","year":"2007","unstructured":"Flora A, Garcia JJ, Thaller C, Zoghbi HY. The E-Protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci. 2007;104:15382\u20137. https:\/\/doi.org\/10.1073\/pnas.0707456104.","journal-title":"Proc Natl Acad Sci"},{"key":"2265_CR50","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1006\/bbrc.2000.3090","volume":"274","author":"P Persson","year":"2000","unstructured":"Persson P, J\u00f6gi A, Grynfeld A, P\u00e5hlman S, Axelson H. HASH-1 and E2-2 are expressed in human neuroblastoma cells and form a functional complex. Biochem Biophys Res Commun. 2000;274:22\u201331. https:\/\/doi.org\/10.1006\/bbrc.2000.3090.","journal-title":"Biochem Biophys Res Commun"},{"key":"2265_CR51","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1038\/nrn874","volume":"3","author":"N Bertrand","year":"2002","unstructured":"Bertrand N, Castro DS, Guillemot F. Proneural genes and the specification of neural cell types. Nat Rev Neurosci. 2002;3:517\u201330. https:\/\/doi.org\/10.1038\/nrn874.","journal-title":"Nat Rev Neurosci"},{"key":"2265_CR52","doi-asserted-by":"publisher","first-page":"3173","DOI":"10.1093\/hmg\/ddg339","volume":"12","author":"L de Pontual","year":"2003","unstructured":"de Pontual L. Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine\u2019s Curse). Hum Mol Genet. 2003;12:3173\u201380. https:\/\/doi.org\/10.1093\/hmg\/ddg339.","journal-title":"Hum Mol Genet"},{"key":"2265_CR53","doi-asserted-by":"publisher","unstructured":"Guillemot F, Lo L-C, Johnson JE, Auerbach A, Anderson DJ, Joyner AL. Mammalian Achaete-Scute homolog 1 is required for the early development of olfactory and autonomic neurons. Cell 1993, 75, 463\u201376, https:\/\/doi.org\/10.1016\/0092-8674(93)90381-Y","DOI":"10.1016\/0092-8674(93)90381-Y"},{"key":"2265_CR54","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1006\/mcne.1999.0826","volume":"15","author":"A Pattyn","year":"2000","unstructured":"Pattyn A, Goridis C, Brunet J-F. Specification of the central noradrenergic phenotype by the homeobox gene Phox2b. Mol Cell Neurosci. 2000;15:235\u201343. https:\/\/doi.org\/10.1006\/mcne.1999.0826.","journal-title":"Mol Cell Neurosci"},{"key":"2265_CR55","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.17.8063","author":"A Aronheim","year":"1993","unstructured":"Aronheim A, Shiran R, Rosen A, Walker MD. The E2A gene product contains two separable and functionally distinct transcription activation domains. Proc Natl Acad Sci U S A. 1993. https:\/\/doi.org\/10.1073\/pnas.90.17.8063.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2265_CR56","doi-asserted-by":"publisher","first-page":"121","DOI":"10.1128\/mcb.16.1.121","volume":"16","author":"ME Massari","year":"1996","unstructured":"Massari ME, Jennings PA, Murre C. The AD1 transactivation domain of E2A contains a highly conserved Helix which is required for its activity in both Saccharomyces Cerevisiae and mammalian cells. Mol Cell Biol. 1996;16:121\u20139. https:\/\/doi.org\/10.1128\/mcb.16.1.121.","journal-title":"Mol Cell Biol"},{"key":"2265_CR57","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M408654200","author":"R Bayly","year":"2004","unstructured":"Bayly R, Chuen L, Currie RA, Hyndman BD, Casselman R, Blobel GA, LeBrun DP. E2A-PBX1 interacts directly with the KIX domain of CBP\/P300 in the induction of proliferation in primary hematopoietic cells. J Biol Chem. 2004. https:\/\/doi.org\/10.1074\/jbc.M408654200.","journal-title":"J Biol Chem"},{"key":"2265_CR58","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2012-02-411397","author":"CM Denis","year":"2012","unstructured":"Denis CM, Chitayat S, Plevin MJ, Wang F, Thompson P, Liu S, Spencer HL, Ikura M, LeBrun DP, Smith SP. Structural basis of CBP\/P300 recruitment in leukemia induction by E2A-PBX1. Blood. 2012. https:\/\/doi.org\/10.1182\/blood-2012-02-411397.","journal-title":"Blood"},{"key":"2265_CR59","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gku206","author":"CM Denis","year":"2014","unstructured":"Denis CM, Langelaan DN, Kirlin AC, Chitayat S, Munro K, Spencer HL, Lebrun DP, Smith SP. Functional redundancy between the transcriptional activation domains of E2A is mediated by binding to the KIX domain of CBP\/P300. Nucleic Acids Res. 2014. https:\/\/doi.org\/10.1093\/nar\/gku206.","journal-title":"Nucleic Acids Res"},{"key":"2265_CR60","doi-asserted-by":"publisher","unstructured":"Sirp A, Shubina A, Tuvikene J, Tamberg L, Kiir CS, Kranich L, Timmusk T. Expression of alternative transcription factor 4 MRNAs and protein isoforms in the developing and adult rodent and human tissues. Front Mol Neurosci. 2022;15. https:\/\/doi.org\/10.3389\/fnmol.2022.1033224.","DOI":"10.3389\/fnmol.2022.1033224"},{"key":"2265_CR61","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)80188-4","author":"ME Massari","year":"1999","unstructured":"Massari ME, Grant PA, Pray-Grant MG, Berger SL, Workman JL, Murre CA. Conserved motif present in a class of Helix-Loop-Helix proteins activates transcription by direct recruitment of the SAGA complex. Mol Cell. 1999. https:\/\/doi.org\/10.1016\/S1097-2765(00)80188-4.","journal-title":"Mol Cell"},{"key":"2265_CR62","doi-asserted-by":"publisher","DOI":"10.1126\/science.1097937","author":"J Zhang","year":"2004","unstructured":"Zhang J, Kalkum M, Yamamura S, Chait BT, Roeder RG. E protein Silencing by the leukemogenic AML1-ETO fusion protein. Sci (80-). 2004. https:\/\/doi.org\/10.1126\/science.1097937.","journal-title":"Sci (80-)"},{"key":"2265_CR63","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1186\/s12964-025-02154-7","volume":"23","author":"N Soza\u0144ska","year":"2025","unstructured":"Soza\u0144ska N, Klepka BP, Niedzwiecka A, Zhukova L, Dadlez M, Greb-Markiewicz B, O\u017cyhar A, Tarczewska A. The molecular properties of the BHLH TCF4 protein as an intrinsically disordered hub transcription factor. Cell Commun Signal. 2025;23:154. https:\/\/doi.org\/10.1186\/s12964-025-02154-7.","journal-title":"Cell Commun Signal"},{"key":"2265_CR64","doi-asserted-by":"publisher","first-page":"2815","DOI":"10.1007\/s00018-013-1553-4","volume":"71","author":"BB Quednow","year":"2014","unstructured":"Quednow BB, Brz\u00f3zka MM, Rossner MJ. Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective. Cell Mol Life Sci. 2014;71:2815\u201335. https:\/\/doi.org\/10.1007\/s00018-013-1553-4.","journal-title":"Cell Mol Life Sci"},{"key":"2265_CR65","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2008.03.081","author":"A Herbst","year":"2008","unstructured":"Herbst A, Kolligs FT. A conserved domain in the transcription factor ITF-2B attenuates its activity. Biochem Biophys Res Commun. 2008. https:\/\/doi.org\/10.1016\/j.bbrc.2008.03.081.","journal-title":"Biochem Biophys Res Commun"},{"key":"2265_CR66","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110659200","author":"M Markus","year":"2002","unstructured":"Markus M, Du Z, Benezra R. Enhancer-Specific modulation of E protein activity. J Biol Chem. 2002. https:\/\/doi.org\/10.1074\/jbc.M110659200.","journal-title":"J Biol Chem"},{"key":"2265_CR67","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.30.19269","author":"Y Liu","year":"1998","unstructured":"Liu Y, Ray SK, Yang XQ, Luntz-Leybman V, Chiu IM. 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. J Biol Chem. 1998. https:\/\/doi.org\/10.1074\/jbc.273.30.19269.","journal-title":"J Biol Chem"},{"key":"2265_CR68","doi-asserted-by":"publisher","first-page":"15629","DOI":"10.1038\/s41598-019-52239-w","volume":"9","author":"B Greb-Markiewicz","year":"2019","unstructured":"Greb-Markiewicz B, Kazana W, Zar\u0119bski M, O\u017cyhar A. The subcellular localization of BHLH transcription factor TCF4 is mediated by multiple nuclear localization and nuclear export signals. Sci Rep. 2019;9:15629. https:\/\/doi.org\/10.1038\/s41598-019-52239-w.","journal-title":"Sci Rep"},{"key":"2265_CR69","doi-asserted-by":"publisher","first-page":"4839","DOI":"10.1093\/nar\/gkaa218","volume":"48","author":"M Wedel","year":"2020","unstructured":"Wedel M, Fr\u00f6b F, Elsesser O, Wittmann MT, Lie DC, Reis A, Wegner M. Transcription factor Tcf4 is the preferred heterodimerization partner for Olig2 in oligodendrocytes and required for differentiation. Nucleic Acids Res. 2020;48:4839\u201357. https:\/\/doi.org\/10.1093\/nar\/gkaa218.","journal-title":"Nucleic Acids Res"},{"key":"2265_CR70","doi-asserted-by":"publisher","first-page":"375","DOI":"10.1038\/s41593-019-0578-x","volume":"23","author":"BN Phan","year":"2020","unstructured":"Phan BN, Bohlen JF, Davis BA, Ye Z, Chen H-Y, Mayfield B, Sripathy SR, Cerceo Page S, Campbell MN, Smith HL, et al. A Myelin-Related transcriptomic profile is shared by Pitt\u2013Hopkins syndrome models and human autism spectrum disorder. Nat Neurosci. 2020;23:375\u201385. https:\/\/doi.org\/10.1038\/s41593-019-0578-x.","journal-title":"Nat Neurosci"},{"key":"2265_CR71","doi-asserted-by":"publisher","first-page":"2387","DOI":"10.1038\/s41467-022-29942-w","volume":"13","author":"F Papes","year":"2022","unstructured":"Papes F, Camargo AP, de Souza JS, Carvalho VMA, Szeto RA, LaMontagne E, Teixeira JR, Avansini SH, S\u00e1nchez-S\u00e1nchez SM, Nakahara TS, et al. Transcription factor 4 Loss-of-Function is associated with deficits in progenitor proliferation and cortical neuron content. Nat Commun. 2022;13:2387. https:\/\/doi.org\/10.1038\/s41467-022-29942-w.","journal-title":"Nat Commun"},{"key":"2265_CR72","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1016\/j.gde.2008.07.012","volume":"18","author":"LM Powell","year":"2008","unstructured":"Powell LM, Jarman AP. Context dependence of proneural BHLH proteins. Curr Opin Genet Dev. 2008;18:411\u20137. https:\/\/doi.org\/10.1016\/j.gde.2008.07.012.","journal-title":"Curr Opin Genet Dev"},{"key":"2265_CR73","doi-asserted-by":"publisher","first-page":"2898","DOI":"10.1128\/MCB.16.6.2898","volume":"16","author":"Y Zhuang","year":"1996","unstructured":"Zhuang Y, Cheng P, Weintraub HB. -Lymphocyte development is regulated by the combined dosage of three basic Helix-Loop-Helix genes, E2A, E2-2, and HEB\u2020. Mol Cell Biol. 1996;16:2898\u2013905. https:\/\/doi.org\/10.1128\/MCB.16.6.2898.","journal-title":"Mol Cell Biol"},{"key":"2265_CR74","doi-asserted-by":"publisher","first-page":"15382","DOI":"10.1073\/pnas.0707456104","volume":"104","author":"A Flora","year":"2007","unstructured":"Flora A, Garcia JJ, Thaller C, Zoghbi HY. The E-Protein Tcf4 interacts with Math1 to regulate differentiation of a specific subset of neuronal progenitors. Proc Natl Acad Sci U S A. 2007;104:15382\u20137. https:\/\/doi.org\/10.1073\/pnas.0707456104.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2265_CR75","doi-asserted-by":"publisher","first-page":"150","DOI":"10.1016\/j.ajhg.2007.09.005","volume":"82","author":"M Alarc\u00f3n","year":"2008","unstructured":"Alarc\u00f3n M, Abrahams BS, Stone JL, Duvall JA, Perederiy JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, et al. Linkage, association, and gene-Expression analyses identify CNTNAP2 as an Autism-Susceptibility gene. Am J Hum Genet. 2008;82:150\u20139. https:\/\/doi.org\/10.1016\/j.ajhg.2007.09.005.","journal-title":"Am J Hum Genet"},{"key":"2265_CR76","doi-asserted-by":"publisher","first-page":"851","DOI":"10.1093\/schbul\/sbp079","volume":"35","author":"G Kirov","year":"2009","unstructured":"Kirov G, Rujescu D, Ingason A, Collier DA, O\u2019Donovan MC, Owen MJ. Neurexin 1 (NRXN1) deletions in schizophrenia. Schizophr Bull. 2009;35:851\u20134. https:\/\/doi.org\/10.1093\/schbul\/sbp079.","journal-title":"Schizophr Bull"},{"key":"2265_CR77","doi-asserted-by":"publisher","first-page":"10516","DOI":"10.1523\/JNEUROSCI.1151-17.2017","volume":"37","author":"M Sepp","year":"2017","unstructured":"Sepp M, Vihma H, Nurm K, Urb M, Page SC, Roots K, Hark A, Maher BJ, Pruunsild P, Timmusk T. The intellectual disability and schizophrenia associated transcription factor TCF4 is regulated by neuronal activity and protein kinase A. J Neurosci. 2017;37:10516\u201327. https:\/\/doi.org\/10.1523\/JNEUROSCI.1151-17.2017.","journal-title":"J Neurosci"},{"key":"2265_CR78","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1016\/j.neuron.2016.02.021","volume":"90","author":"MD Rannals","year":"2016","unstructured":"Rannals MD, Hamersky GR, Page SC, Campbell MN, Briley A, Gallo RA, Phan BN, Hyde TM, Kleinman JE, Shin JH, et al. Psychiatric risk gene transcription factor 4 regulates intrinsic excitability of prefrontal neurons via repression of SCN10a and KCNQ1. Neuron. 2016;90:43\u201355. https:\/\/doi.org\/10.1016\/j.neuron.2016.02.021.","journal-title":"Neuron"},{"key":"2265_CR79","doi-asserted-by":"publisher","first-page":"41004","DOI":"10.1074\/jbc.M408120200","volume":"279","author":"J Saarikettu","year":"2004","unstructured":"Saarikettu J, Sveshnikova N, Grundstr\u00f6m T. Calcium\/Calmodulin Inhibition of transcriptional activity of E-Proteins by prevention of their binding to DNA. J Biol Chem. 2004;279:41004\u201311. https:\/\/doi.org\/10.1074\/jbc.M408120200.","journal-title":"J Biol Chem"},{"key":"2265_CR80","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1038\/368760a0","volume":"368","author":"B Corneliussen","year":"1994","unstructured":"Corneliussen B, Holm M, Waltersson Y, Onions J, Hallberg B, Thornell A, Grundstr\u00f6m T. Transcription Factor Domains Nat. 1994;368:760\u20134. https:\/\/doi.org\/10.1038\/368760a0. Calcium\/Calmodulin Inhibition of Basic-Helix-Loop-Helix.","journal-title":"Transcription Factor Domains Nat"},{"key":"2265_CR81","doi-asserted-by":"publisher","first-page":"23930","DOI":"10.1074\/jbc.272.38.23930","volume":"272","author":"J Onions","year":"1997","unstructured":"Onions J, Hermann S, Grundstr\u00f6m T. Basic Helix-Loop-Helix protein sequences determining differential Inhibition by calmodulin and S-100 proteins. J Biol Chem. 1997;272:23930\u20137. https:\/\/doi.org\/10.1074\/jbc.272.38.23930.","journal-title":"J Biol Chem"},{"key":"2265_CR82","doi-asserted-by":"publisher","first-page":"2509","DOI":"10.1091\/mbc.e07-09-0886","volume":"19","author":"J Hauser","year":"2008","unstructured":"Hauser J, Saarikettu J, Grundstr\u00f6m T. Calcium regulation of myogenesis by differential calmodulin Inhibition of basic Helix-Loop-Helix transcription factors. Mol Biol Cell. 2008;19:2509\u201319. https:\/\/doi.org\/10.1091\/mbc.e07-09-0886.","journal-title":"Mol Biol Cell"},{"key":"2265_CR83","doi-asserted-by":"publisher","first-page":"1267","DOI":"10.1073\/pnas.0708220105","volume":"105","author":"J Hauser","year":"2008","unstructured":"Hauser J, Sveshnikova N, Wallenius A, Baradaran S, Saarikettu J, Grundstr\u00f6m T. B-Cell receptor activation inhibits AID expression through calmodulin Inhibition of E-Proteins. Proc Natl Acad Sci. 2008;105:1267\u201372. https:\/\/doi.org\/10.1073\/pnas.0708220105.","journal-title":"Proc Natl Acad Sci"},{"key":"2265_CR84","doi-asserted-by":"publisher","first-page":"1488","DOI":"10.1093\/hmg\/ddm099","volume":"16","author":"A Brockschmidt","year":"2007","unstructured":"Brockschmidt A, Todt U, Ryu S, Hoischen A, Landwehr C, Birnbaum S, Frenck W, Radlwimmer B, Lichter P, Engels H, et al. Severe mental retardation with breathing abnormalities (Pitt - Hopkins Syndrome) is caused by haploinsufficiency of the neuronal BHLH transcription factor TCF4. Hum Mol Genet. 2007;16:1488\u201394. https:\/\/doi.org\/10.1093\/hmg\/ddm099.","journal-title":"Hum Mol Genet"},{"key":"2265_CR85","doi-asserted-by":"publisher","first-page":"918","DOI":"10.1523\/JNEUROSCI.1305-17.2017","volume":"38","author":"C Thaxton","year":"2018","unstructured":"Thaxton C, Kloth AD, Clark EP, Moy SS, Chitwood RA, Philpot BD. Common pathophysiology in multiple mouse models of Pitt\u2013Hopkins syndrome. J Neurosci. 2018;38:918\u201336. https:\/\/doi.org\/10.1523\/JNEUROSCI.1305-17.2017.","journal-title":"J Neurosci"},{"key":"2265_CR86","doi-asserted-by":"publisher","first-page":"2219","DOI":"10.1111\/ejn.14674","volume":"51","author":"M Schoof","year":"2020","unstructured":"Schoof M, Hellwig M, Harrison L, Holdhof D, Lauffer MC, Niesen J, Virdi S, Indenbirken D, Sch\u00fcller U. The basic Helix-loop\u2010helix transcription factor TCF4 impacts brain architecture as well as neuronal morphology and differentiation. Eur J Neurosci. 2020;51:2219\u201335. https:\/\/doi.org\/10.1111\/ejn.14674.","journal-title":"Eur J Neurosci"},{"key":"2265_CR87","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1016\/j.cell.2008.09.016","volume":"135","author":"B Cisse","year":"2008","unstructured":"Cisse B, Caton ML, Lehner M, Maeda T, Scheu S, Locksley R, Holmberg D, Zweier C, den Hollander NS, Kant SG, et al. Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development. Cell. 2008;135:37\u201348. https:\/\/doi.org\/10.1016\/j.cell.2008.09.016.","journal-title":"Cell"},{"key":"2265_CR88","doi-asserted-by":"publisher","first-page":"2389","DOI":"10.1002\/eji.200838470","volume":"38","author":"M Nagasawa","year":"2008","unstructured":"Nagasawa M, Schmidlin H, Hazekamp MG, Schotte R, Blom B. Development of human plasmacytoid dendritic cells depends on the combined action of the basic Helix-loop\u2010helix factor E2\u20102 and the Ets factor Spi\u2010B. Eur J Immunol. 2008;38:2389\u2013400. https:\/\/doi.org\/10.1002\/eji.200838470.","journal-title":"Eur J Immunol"},{"key":"2265_CR89","doi-asserted-by":"publisher","first-page":"905","DOI":"10.1016\/j.immuni.2010.11.023","volume":"33","author":"HS Ghosh","year":"2010","unstructured":"Ghosh HS, Cisse B, Bunin A, Lewis KL, Reizis B. Continuous expression of the transcription factor E2-2 maintains the cell fate of mature plasmacytoid dendritic cells. Immunity. 2010;33:905\u201316. https:\/\/doi.org\/10.1016\/j.immuni.2010.11.023.","journal-title":"Immunity"},{"key":"2265_CR90","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1038\/nri2507","volume":"9","author":"BL Kee","year":"2009","unstructured":"Kee BL, E, Proteins Branch ID, Out. Nat Rev Immunol. 2009;9:175\u201384. https:\/\/doi.org\/10.1038\/nri2507.","journal-title":"Nat Rev Immunol"},{"key":"2265_CR91","doi-asserted-by":"publisher","first-page":"2857","DOI":"10.1002\/1521-4141(200010)30:10","volume":"30","author":"I Bergqvist","year":"2000","unstructured":"Bergqvist I, Eriksson M, Saarikettu J, Eriksson B, Corneliussen B, Grundstr\u00f6m T, Holmberg D. The basic Helix-Loop-Helix transcription factor E2-2 is involved in T lymphocyte development. Eur J Immunol. 2000;30:2857\u201363. https:\/\/doi.org\/10.1002\/1521-4141(200010)30:10 <2857::AID-IMMU2857>3.0.CO;2-G.","journal-title":"Eur J Immunol"},{"key":"2265_CR92","doi-asserted-by":"publisher","first-page":"e73169","DOI":"10.1371\/journal.pone.0073169","volume":"8","author":"MP Forrest","year":"2013","unstructured":"Forrest MP, Waite AJ, Martin-Rendon E, Blake DJ. Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiation. PLoS ONE. 2013;8:e73169. https:\/\/doi.org\/10.1371\/journal.pone.0073169.","journal-title":"PLoS ONE"},{"key":"2265_CR93","doi-asserted-by":"publisher","first-page":"3246","DOI":"10.1093\/hmg\/ddy222","volume":"27","author":"H Xia","year":"2018","unstructured":"Xia H, Jahr FM, Kim N-K, Xie L, Shabalin AA, Bryois J, Sweet DH, Kronfol MM, Palasuberniam P, McRae M, et al. Building a schizophrenia genetic network: transcription factor 4 regulates genes involved in neuronal development and schizophrenia risk. Hum Mol Genet. 2018;27:3246\u201356. https:\/\/doi.org\/10.1093\/hmg\/ddy222.","journal-title":"Hum Mol Genet"},{"key":"2265_CR94","doi-asserted-by":"publisher","first-page":"1438","DOI":"10.1172\/JCI38019","volume":"119","author":"H Acloque","year":"2009","unstructured":"Acloque H, Adams MS, Fishwick K, Bronner-Fraser M, Nieto MA. Epithelial-Mesenchymal transitions: the importance of changing cell state in development and disease. J Clin Invest. 2009;119:1438\u201349. https:\/\/doi.org\/10.1172\/JCI38019.","journal-title":"J Clin Invest"},{"key":"2265_CR95","doi-asserted-by":"publisher","first-page":"1420","DOI":"10.1172\/JCI39104","volume":"119","author":"R Kalluri","year":"2009","unstructured":"Kalluri R, Weinberg RA. The basics of Epithelial-Mesenchymal transition. J Clin Invest. 2009;119:1420\u20138. https:\/\/doi.org\/10.1172\/JCI39104.","journal-title":"J Clin Invest"},{"key":"2265_CR96","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1111\/j.1469-8749.2012.04339.x","volume":"54","author":"IDC Van Balkom","year":"2012","unstructured":"Van Balkom IDC, Vuijk PJ, Franssens M, Hoek HW, Hennekam RCM, Development. Cognition, and behaviour in Pitt-Hopkins syndrome. Dev Med Child Neurol. 2012;54:925\u201331. https:\/\/doi.org\/10.1111\/j.1469-8749.2012.04339.x.","journal-title":"Dev Med Child Neurol"},{"key":"2265_CR97","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34070","author":"G Marangi","year":"2011","unstructured":"Marangi G, Ricciardi S, Orteschi D, Lattante S, Murdolo M, Dallapiccola B, Biscione C, Lecce R, Chiurazzi P, Romano C, et al. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Am J Med Genet Part A. 2011. https:\/\/doi.org\/10.1002\/ajmg.a.34070.","journal-title":"Am J Med Genet Part A"},{"key":"2265_CR98","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1002\/bdra.20633","volume":"88","author":"Z Kato","year":"2010","unstructured":"Kato Z, Morimoto W, Kimura T, Matsushima A, Kondo N. Interstitial deletion of 18q: comparative genomic hybridization array analysis of 46, XX,Del(18)(Q21.2.Q21.33). Birth defects res. Part A clin. Mol Teratol. 2010;88:132\u20135. https:\/\/doi.org\/10.1002\/bdra.20633.","journal-title":"Mol Teratol"},{"key":"2265_CR99","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1007\/s00439-011-1020-y","volume":"130","author":"M Hasi","year":"2011","unstructured":"Hasi M, Soileau B, Sebold C, Hill A, Hale DE, O\u2019Donnell L, Cody JD. The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions. Hum Genet. 2011;130:777\u201387. https:\/\/doi.org\/10.1007\/s00439-011-1020-y.","journal-title":"Hum Genet"},{"key":"2265_CR100","doi-asserted-by":"publisher","first-page":"2621","DOI":"10.1002\/ajmg.a.35230","volume":"158A","author":"T Takenouchi","year":"2012","unstructured":"Takenouchi T, Yagihashi T, Tsuchiya H, Torii C, Hayashi K, Kosaki R, Saitoh S, Takahashi T, Kosaki K. Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt\u2013Hopkins syndrome. Am J Med Genet Part A. 2012;158A:2621\u20133. https:\/\/doi.org\/10.1002\/ajmg.a.35230.","journal-title":"Am J Med Genet Part A"},{"key":"2265_CR101","doi-asserted-by":"publisher","first-page":"2053","DOI":"10.1002\/ajmg.a.32419","volume":"146A","author":"VM Kalscheuer","year":"2008","unstructured":"Kalscheuer VM, Feenstra I, Van Ravenswaaij-Arts CMA, Smeets DFCM, Menzel C, Ullmann R, Musante L, Ropers H-H. Disruption of the TCF4 gene in a Girl with mental retardation but without the classical Pitt-Hopkins syndrome. Am J Med Genet A. 2008;146A:2053\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.32419.","journal-title":"Am J Med Genet A"},{"key":"2265_CR102","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1016\/j.cell.2012.03.028","volume":"149","author":"ME Talkowski","year":"2012","unstructured":"Talkowski ME, Rosenfeld JA, Blumenthal I, Pillalamarri V, Chiang C, Heilbut A, Ernst C, Hanscom C, Rossin E, Lindgren AM, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012;149:525\u201337. https:\/\/doi.org\/10.1016\/j.cell.2012.03.028.","journal-title":"Cell"},{"key":"2265_CR103","doi-asserted-by":"publisher","first-page":"144","DOI":"10.1136\/jmedgenet-2012-101351","volume":"50","author":"C Schluth-Bolard","year":"2013","unstructured":"Schluth-Bolard C, Labalme A, Cordier MP, Till M, Nadeau G, Tevissen H, Lesca G, Boutry-Kryza N, Rossignol S, Rocas D, et al. Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and\/or congenital malformations. J Med Genet. 2013;50:144\u201350. https:\/\/doi.org\/10.1136\/jmedgenet-2012-101351.","journal-title":"J Med Genet"},{"key":"2265_CR104","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-016-0439-6","volume":"11","author":"V Maduro","year":"2016","unstructured":"Maduro V, Pusey BN, Cherukuri PF, Atkins P, Du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, et al. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Orphanet J Rare Dis. 2016;11:1\u201315. https:\/\/doi.org\/10.1186\/s13023-016-0439-6.","journal-title":"Orphanet J Rare Dis"},{"key":"2265_CR105","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.08.004","author":"MF Bedeschi","year":"2017","unstructured":"Bedeschi MF, Marangi G, Calvello MR, Ricciardi S, Leone FPC, Baccarin M, Guerneri S, Orteschi D, Murdolo M, Lattante S, et al. Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. Eur J Med Genet. 2017. https:\/\/doi.org\/10.1016\/j.ejmg.2017.08.004.","journal-title":"Eur J Med Genet"},{"key":"2265_CR106","doi-asserted-by":"publisher","first-page":"1685","DOI":"10.1002\/ajmg.a.34055","volume":"155","author":"D Lehalle","year":"2011","unstructured":"Lehalle D, Williams C, Siu VM, Clayton-Smith J. Fetal pads as a clue to the diagnosis of Pitt\u2013Hopkins syndrome. Am J Med Genet Part A. 2011;155:1685\u20139. https:\/\/doi.org\/10.1002\/ajmg.a.34055.","journal-title":"Am J Med Genet Part A"},{"key":"2265_CR107","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1016\/j.ejmg.2016.04.003","volume":"59","author":"M Kharbanda","year":"2016","unstructured":"Kharbanda M, Kannike K, Lampe A, Berg J, Timmusk T, Sepp M. Partial deletion of TCF4 in three generation family with Non-Syndromic intellectual disability, without features of Pitt-Hopkins syndrome. Eur J Med Genet. 2016;59:310\u20134. https:\/\/doi.org\/10.1016\/j.ejmg.2016.04.003.","journal-title":"Eur J Med Genet"},{"key":"2265_CR108","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1016\/0092-8674(89)90682-X","volume":"56","author":"C Murre","year":"1989","unstructured":"Murre C, McCaw PS, A Baltimore D. New DNA binding and dimerization motif in Immunoglobulin enhancer binding, daughterless, MyoD, and Myc proteins. Cell. 1989;56:777\u201383. https:\/\/doi.org\/10.1016\/0092-8674(89)90682-X.","journal-title":"Cell"},{"key":"2265_CR109","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1007\/s10048-021-00651-8","volume":"22","author":"T Zhao","year":"2021","unstructured":"Zhao T, Genchev GZ, Wu S, Yu G, Lu H, Feng J. Pitt\u2013Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations. Neurogenetics. 2021;22:161\u20139. https:\/\/doi.org\/10.1007\/s10048-021-00651-8.","journal-title":"Neurogenetics"},{"key":"2265_CR110","doi-asserted-by":"publisher","first-page":"2873","DOI":"10.1093\/hmg\/dds112","volume":"21","author":"M Sepp","year":"2012","unstructured":"Sepp M, Pruunsild P, Timmusk T. Pitt\u2013Hopkins Syndrome-Associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to Dominant-Negative effects. Hum Mol Genet. 2012;21:2873\u201388. https:\/\/doi.org\/10.1093\/hmg\/dds112.","journal-title":"Hum Mol Genet"},{"key":"2265_CR111","doi-asserted-by":"publisher","first-page":"1762","DOI":"10.1242\/bio.014696","volume":"4","author":"L Tamberg","year":"2015","unstructured":"Tamberg L, Sepp M, Timmusk T, Palgi M. Introducing Pitt-Hopkins Syndrome-Associated mutations of TCF4 to Drosophila daughterless. Biol Open. 2015;4:1762\u201371. https:\/\/doi.org\/10.1242\/bio.014696.","journal-title":"Biol Open"},{"key":"2265_CR112","doi-asserted-by":"publisher","first-page":"8375","DOI":"10.1093\/nar\/gkz381","volume":"47","author":"J Yang","year":"2019","unstructured":"Yang J, Horton JR, Li J, Huang Y, Zhang X, Blumenthal RM, Cheng X. Structural basis for Preferential binding of human TCF4 to DNA containing 5-Carboxylcytosine. Nucleic Acids Res. 2019;47:8375\u201387. https:\/\/doi.org\/10.1093\/nar\/gkz381.","journal-title":"Nucleic Acids Res"},{"key":"2265_CR113","doi-asserted-by":"publisher","first-page":"101381","DOI":"10.1016\/j.jbc.2021.101381","volume":"297","author":"A Sirp","year":"2021","unstructured":"Sirp A, Roots K, Nurm K, Tuvikene J, Sepp M, Timmusk T. Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia. J Biol Chem. 2021;297:101381. https:\/\/doi.org\/10.1016\/j.jbc.2021.101381.","journal-title":"J Biol Chem"},{"key":"2265_CR114","doi-asserted-by":"publisher","unstructured":"Li SC, Goto NK, Williams KA, Deber CM. Alpha-Helical, but Not Beta-Sheet, Propensity of Proline Is Determined by Peptide Environment. Proc. Natl. Acad. Sci. U. S. A. 1996;93:6676\u20136681. https:\/\/doi.org\/10.1073\/pnas.93.13.6676","DOI":"10.1073\/pnas.93.13.6676"},{"key":"2265_CR115","unstructured":"Clark DP, Pazdernik NJ, McGehee MR, Molecular Biology. third.; Elsevier. 2019;ISBN 9780128132883."},{"key":"2265_CR116","doi-asserted-by":"publisher","first-page":"1439","DOI":"10.1093\/bioinformatics\/btz764","volume":"36","author":"P Rawat","year":"2020","unstructured":"Rawat P, Prabakaran R, Kumar S, Gromiha MM, AggreRATE-Pred. A mathematical model for the prediction of change in aggregation rate upon point mutation. Bioinformatics. 2020;36:1439\u201344. https:\/\/doi.org\/10.1093\/bioinformatics\/btz764.","journal-title":"Bioinformatics"},{"key":"2265_CR117","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1016\/j.ijbiomac.2018.06.102","volume":"118","author":"P Rawat","year":"2018","unstructured":"Rawat P, Kumar S, Michael Gromiha M. An In-Silico method for identifying aggregation rate enhancer and mitigator mutations in proteins. Int J Biol Macromol. 2018;118:1157\u201367. https:\/\/doi.org\/10.1016\/j.ijbiomac.2018.06.102.","journal-title":"Int J Biol Macromol"},{"key":"2265_CR118","doi-asserted-by":"publisher","first-page":"1742","DOI":"10.1016\/j.cell.2020.11.050","volume":"183","author":"B Tsang","year":"2020","unstructured":"Tsang B, Priti\u0161anac I, Scherer SW, Moses AM, Forman-Kay JD. Phase separation as a missing mechanism for interpretation of disease mutations. Cell. 2020;183:1742\u201356. https:\/\/doi.org\/10.1016\/j.cell.2020.11.050.","journal-title":"Cell"},{"key":"2265_CR119","doi-asserted-by":"publisher","unstructured":"Verhulst SL, De Dooy J, Ramet J, Bockaert N, Van Coster R, Ceulemans B, De Backer W. Acetazolamide for Severe Apnea in Pitt-Hopkins Syndrome. Am. J. Med. Genet. Part A. 2012;158(A):932\u2013934. https:\/\/doi.org\/10.1002\/ajmg.a.35247","DOI":"10.1002\/ajmg.a.35247"},{"key":"2265_CR120","doi-asserted-by":"publisher","first-page":"1423","DOI":"10.1002\/ajmg.a.37034","volume":"167","author":"C Gaffney","year":"2015","unstructured":"Gaffney C, McNally P. Successful use of Acetazolamide for central apnea in a child with Pitt\u2013Hopkins syndrome. Am J Med Genet Part A. 2015;167:1423\u20131423. https:\/\/doi.org\/10.1002\/ajmg.a.37034.","journal-title":"Am J Med Genet Part A"},{"key":"2265_CR121","doi-asserted-by":"crossref","unstructured":"Sweatt JD. Pitt-Hopkins syndrome: intellectual disability due to loss of TCF4-Regulated gene transcription. Exp Mol Med. 2013.","DOI":"10.1038\/emm.2013.32"},{"key":"2265_CR122","doi-asserted-by":"publisher","first-page":"2666","DOI":"10.1016\/j.celrep.2016.08.004.Tcf4","volume":"16","author":"AJ Kennedy","year":"2016","unstructured":"Kennedy AJ, Rahn EJ, Paulukaitis BS, Savell KE, Kordasiewicz HB, Wang J, Lewis JW, Posey J, Strange SK, Guzman-Karlsson MC, et al. Tcf4 regulates synaptic plasticity, DNA methylation, and memory function HHS public access graphical abstract INTRODUCTION. Cell Rep. 2016;16:2666\u201385. https:\/\/doi.org\/10.1016\/j.celrep.2016.08.004.Tcf4.","journal-title":"Cell Rep"},{"key":"2265_CR123","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1159\/000475666","volume":"3","author":"KM Hennig","year":"2017","unstructured":"Hennig KM, Fass DM, Zhao W-N, Sheridan SD, Fu T, Erdin S, Stortchevoi A, Lucente D, Cody JD, Sweetser D, et al. WNT\/\u03b2-Catenin pathway and epigenetic mechanisms regulate the Pitt-Hopkins syndrome and schizophrenia risk gene TCF4. Complex Psychiatry. 2017;3:53\u201371. https:\/\/doi.org\/10.1159\/000475666.","journal-title":"Complex Psychiatry"},{"key":"2265_CR124","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1007\/s11095-020-02853-5","volume":"37","author":"S Ekins","year":"2020","unstructured":"Ekins S, Puhl AC, Davidow A. Repurposing the dihydropyridine calcium channel inhibitor Nicardipine as a Nav1.8 inhibitor in vivo for Pitt Hopkins syndrome. Pharm Res. 2020;37:127. https:\/\/doi.org\/10.1007\/s11095-020-02853-5.","journal-title":"Pharm Res"},{"key":"2265_CR125","doi-asserted-by":"publisher","first-page":"1","DOI":"10.7554\/eLife.72290","volume":"11","author":"H Kim","year":"2022","unstructured":"Kim H, Gao EB, Draper A, Berens NC, Vihma H, Zhang X, Higashi-Howard A, Ritola KD, Simon JM, Kennedy AJ, et al. Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Tcf4 expression. Elife. 2022;11:1\u201324. https:\/\/doi.org\/10.7554\/eLife.72290.","journal-title":"Elife"},{"key":"2265_CR126","doi-asserted-by":"publisher","first-page":"996","DOI":"10.1038\/s41431-018-0096-4","volume":"26","author":"L Mary","year":"2018","unstructured":"Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, et al. Disease-Causing variants in TCF4 are a frequent cause of intellectual disability: lessons from Large-Scale sequencing approaches in diagnosis. Eur J Hum Genet. 2018;26:996\u20131006. https:\/\/doi.org\/10.1038\/s41431-018-0096-4.","journal-title":"Eur J Hum Genet"},{"key":"2265_CR127","doi-asserted-by":"publisher","first-page":"3801","DOI":"10.1016\/j.bpj.2010.10.039","volume":"99","author":"B Morel","year":"2010","unstructured":"Morel B, Varela L, Azuaga AI, Conejero-Lara F. Environmental conditions affect the kinetics of nucleation of amyloid fibrils and determine their morphology. Biophys J. 2010;99:3801\u201310. https:\/\/doi.org\/10.1016\/j.bpj.2010.10.039.","journal-title":"Biophys J"}],"container-title":["Cell Communication and Signaling"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12964-025-02265-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12964-025-02265-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12964-025-02265-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,6,1]],"date-time":"2025-06-01T19:35:26Z","timestamp":1748806526000},"score":1,"resource":{"primary":{"URL":"https:\/\/biosignaling.biomedcentral.com\/articles\/10.1186\/s12964-025-02265-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,1]]},"references-count":127,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["2265"],"URL":"https:\/\/doi.org\/10.1186\/s12964-025-02265-1","relation":{},"ISSN":["1478-811X"],"issn-type":[{"value":"1478-811X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,6,1]]},"assertion":[{"value":"22 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 May 2025","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 June 2025","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"258"}}