{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T18:51:14Z","timestamp":1757616674303,"version":"3.44.0"},"publisher-location":"Cham","reference-count":36,"publisher":"Springer International Publishing","isbn-type":[{"type":"print","value":"9783031440861"},{"type":"electronic","value":"9783031440878"}],"license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024]]},"DOI":"10.1007\/978-3-031-44087-8_55","type":"book-chapter","created":{"date-parts":[[2024,6,17]],"date-time":"2024-06-17T07:06:58Z","timestamp":1718608018000},"page":"885-900","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular Pathways and Animal Models of Tricuspid Atresia and Univentricular Heart"],"prefix":"10.1007","author":[{"given":"Kamel","family":"Shibbani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Nemer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,6,18]]},"reference":[{"key":"55_CR1","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1016\/0012-1606(83)90010-6","volume":"95","author":"R Runyan","year":"1983","unstructured":"Runyan R, Markwald RR. Invasion of mesenchyme into three-dimensional collagen gels- a regional and temporal analysis of interaction in embryonic heart tissue. Dev Biol. 1983;95:108\u201314.","journal-title":"Dev Biol"},{"key":"55_CR2","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1016\/0012-1606(87)90237-5","volume":"120","author":"E Krug","year":"1987","unstructured":"Krug E, Mjaatvedt C, Markwald RR. Extracellular matrix from embryonic myocardium elicits an early morphogenetic event in cardiac endothelial differentiation. Dev Biol. 1987;120:348\u201355.","journal-title":"Dev Biol"},{"key":"55_CR3","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1016\/0012-1606(87)90206-5","volume":"119","author":"C Mjaatvedt","year":"1987","unstructured":"Mjaatvedt C, Lerepa RC, Markwald RR. Myocardial specificity for initiating endothelial-mesenchymal cell transition in embryonic chick heart correlates with a particulate distribution of fibronectin. Dev Biol. 1987;119:59\u201367.","journal-title":"Dev Biol"},{"key":"55_CR4","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1091\/mbc.1.3.301","volume":"1","author":"RP Runyan","year":"1990","unstructured":"Runyan RP, Sharma J, Loeber R, et al. Signal transduction of a tissue interaction during embryonic heart development. Cell Regul. 1990;1:301\u201313.","journal-title":"Cell Regul"},{"key":"55_CR5","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1016\/B978-0-12-381332-9.00018-9","volume-title":"Heart development and regeneration","author":"TD Camenisch","year":"2010","unstructured":"Camenisch TD, Runyan R, Markwald RR. Molecular regulation of cushion morphogenesis. In: Harvey R, Rosenthal N, editors. Heart development and regeneration. London: Academic; 2010. p. 363\u201387."},{"key":"55_CR6","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/S0074-7696(05)43005-3","volume":"243","author":"A Person","year":"2005","unstructured":"Person A, Klewer SE, Runyan R. Cell biology of cardiac cushion development. Int Rev Cytol. 2005;243:287\u2013335.","journal-title":"Int Rev Cytol"},{"key":"55_CR7","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1016\/j.diff.2012.04.001","volume":"84","author":"A de Vlaming","year":"2012","unstructured":"de Vlaming A, Sauls K, Hajdu Z, et al. Atrioventricular valve development: new perspectives on an old theme. Differentiation. 2012;84:103\u201316.","journal-title":"Differentiation"},{"key":"55_CR8","doi-asserted-by":"publisher","first-page":"461","DOI":"10.1016\/j.dci.2003.09.007","volume":"28","author":"A Herpin","year":"2004","unstructured":"Herpin A, Lelong C, Favrel P. Transforming growth factor-beta-related proteins: an ancestral and widespread superfamily of cytokines in metazoans. Dev Comp Immunol. 2004;28:461\u201385.","journal-title":"Dev Comp Immunol"},{"key":"55_CR9","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1038\/nrc3500","volume":"13","author":"LM Wakefield","year":"2013","unstructured":"Wakefield LM, Hill CS. Beyond TGFbeta: roles of other TGFbeta superfamily members in cancer. Nat Rev Cancer. 2013;13:328\u201341.","journal-title":"Nat Rev Cancer"},{"key":"55_CR10","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1038\/nrm3434","volume":"13","author":"J Massague","year":"2012","unstructured":"Massague J. TGFbeta signalling in context. Nat Rev Mol Cell Biol. 2012;13:616\u201330.","journal-title":"Nat Rev Mol Cell Biol"},{"key":"55_CR11","doi-asserted-by":"publisher","first-page":"871","DOI":"10.1016\/j.cell.2009.11.007","volume":"139","author":"JP Thiery","year":"2009","unstructured":"Thiery JP, Acloque H, Huang RY, et al. Epithelial-mesenchymal transitions in development and disease. Cell. 2009;139:871\u201390.","journal-title":"Cell"},{"key":"55_CR12","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1006\/dbio.1999.9211","volume":"205","author":"AS Boyer","year":"1999","unstructured":"Boyer AS, Ayerinskas II, Vincent EB, et al. TGFb2 and TGFb3 have separate and sequential activities during epithelial\u2013mesenchymal cell transformation in the embryonic heart. Dev Biol. 1999;205:530\u201345.","journal-title":"Dev Biol"},{"key":"55_CR13","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1002\/dvdy.21854","volume":"238","author":"M Azhar","year":"2009","unstructured":"Azhar M, Runyan RB, Gard C, et al. Ligand-specific function of transforming growth factor beta in epithelial-mesenchymal transition in heart development. Dev Dyn. 2009;238:431\u201342.","journal-title":"Dev Dyn"},{"key":"55_CR14","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a011197","volume":"5","author":"JL Wrana","year":"2013","unstructured":"Wrana JL. Signaling by the TGFbeta superfamily. Cold Spring Harb Perspect Biol. 2013;5:a011197.","journal-title":"Cold Spring Harb Perspect Biol"},{"key":"55_CR15","doi-asserted-by":"publisher","first-page":"4006","DOI":"10.1073\/pnas.1019025108","volume":"108","author":"IP Moskowitz","year":"2011","unstructured":"Moskowitz IP, Wang J, Peterson MA, et al. Transcription factor genes Smad4 and Gata4 cooperatively regulate cardiac valve development. Proc Natl Acad Sci U S A. 2011;108:4006\u201311.","journal-title":"Proc Natl Acad Sci U S A"},{"key":"55_CR16","doi-asserted-by":"publisher","first-page":"4495","DOI":"10.1128\/MCB.19.6.4495","volume":"19","author":"J Lu","year":"1999","unstructured":"Lu J, McKinsey TA, Xu H, et al. FOG-2, a heart- and brain-enriched cofactor for GATA transcription factors. Mol Cell Biol. 1999;19:4495\u2013502.","journal-title":"Mol Cell Biol"},{"key":"55_CR17","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1016\/S0092-8674(00)80885-5","volume":"101","author":"SG Tevosian","year":"2000","unstructured":"Tevosian SG, Deconinck AE, Tanaka M, et al. FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. Cell. 2000;101:729\u201339.","journal-title":"Cell"},{"key":"55_CR18","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1038\/77146","volume":"25","author":"E Svensson","year":"2000","unstructured":"Svensson E, Huggins GS, Lin H, et al. A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2. Nat Genet. 2000;25:353\u20136.","journal-title":"Nat Genet"},{"key":"55_CR19","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1016\/j.devcel.2012.01.014","volume":"22","author":"JL de la Pompa","year":"2012","unstructured":"de la Pompa JL, Epstein JA. Coordinating tissue interactions: notch signaling in cardiac development and disease. Dev Cell. 2012;22:244\u201354.","journal-title":"Dev Cell"},{"key":"55_CR20","doi-asserted-by":"publisher","first-page":"2899","DOI":"10.1007\/s00018-012-1197-9","volume":"70","author":"VC Garside","year":"2013","unstructured":"Garside VC, Chang AC, Karsan A, et al. Co-ordinating notch, BMP, and TGF-beta signaling during heart valve development. Cell Mol Life Sci. 2013;70:2899\u2013917.","journal-title":"Cell Mol Life Sci"},{"key":"55_CR21","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1016\/S0070-2153(10)92011-5","volume":"92","author":"D MacGrogan","year":"2010","unstructured":"MacGrogan D, Nus M, de la Pompa JL. Notch signaling in cardiac development and disease. Curr Top Dev Biol. 2010;92:333\u201365.","journal-title":"Curr Top Dev Biol"},{"key":"55_CR22","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1016\/S0960-9822(02)01149-1","volume":"12","author":"J Donovan","year":"2001","unstructured":"Donovan J, Kordylewska A, Jan YN, et al. Tetralogy of Fallot and other congenital heart defects in Hey2 mutant mice. Curr Biol. 2001;12:1605\u201310.","journal-title":"Curr Biol"},{"key":"55_CR23","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0049532","volume":"7","author":"Z Abdul-Sater","year":"2012","unstructured":"Abdul-Sater Z, Yehya A, Beresian J, et al. Two heterozygous mutations in NFATC1 in a patient with tricuspid atresia. PLoS One. 2012;7:e49532.","journal-title":"PLoS One"},{"key":"55_CR24","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/j.devcel.2014.02.012","volume":"28","author":"E Mass","year":"2014","unstructured":"Mass E, Wachten D, Aschenbrenner AC, et al. Murine Creld1 controls cardiac development through activation of calcineurin\/NFATc1 signaling. Dev Cell. 2014;28:711\u201326.","journal-title":"Dev Cell"},{"key":"55_CR25","doi-asserted-by":"publisher","first-page":"407","DOI":"10.1016\/j.ydbio.2006.01.017","volume":"292","author":"AW Lange","year":"2006","unstructured":"Lange AW, Yutzey KE. NFATc1 expression in the developing heart valves is responsive to the RANKL pathway and is required for endocardial expression of cathepsin K. Dev Biol. 2006;292:407\u201317.","journal-title":"Dev Biol"},{"key":"55_CR26","doi-asserted-by":"publisher","first-page":"4045","DOI":"10.1242\/dev.129.17.4045","volume":"129","author":"G Nemer","year":"2002","unstructured":"Nemer G, Nemer M. Cooperative interaction between GATA5 and NF-ATc regulates endothelial-endocardial differentiation of cardiogenic cells. Development. 2002;129:4045\u201355.","journal-title":"Development"},{"key":"55_CR27","doi-asserted-by":"publisher","first-page":"459","DOI":"10.1161\/01.RES.0000141146.95728.da","volume":"95","author":"EJ Armstrong","year":"2004","unstructured":"Armstrong EJ, Bischoff J. Heart valve development: endothelial cell signaling and differentiation. Circ Res. 2004;95:459\u201370.","journal-title":"Circ Res"},{"key":"55_CR28","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1016\/j.cell.2004.08.010","volume":"118","author":"CP Chang","year":"2004","unstructured":"Chang CP, Neilson JR, Bayle JH, et al. A field of myocardial-endocardial NFAT signaling underlies heart valve morphogenesis. Cell. 2004;118:649\u201363.","journal-title":"Cell"},{"issue":"9","key":"55_CR29","doi-asserted-by":"publisher","first-page":"e1771","DOI":"10.1002\/mgg3.1771","volume":"9","author":"B Li","year":"2021","unstructured":"Li B, Li T, Pu T, et al. Genetic and functional analyses detect one pathological NFATC1 mutation in a Chinese tricuspid atresia family. Mol Genet Genomic Med. 2021;9(9):e1771. https:\/\/doi.org\/10.1002\/mgg3.1771.","journal-title":"Mol Genet Genomic Med"},{"key":"55_CR30","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1161\/CIRCRESAHA.109.196469","volume":"105","author":"MD Combs","year":"2009","unstructured":"Combs MD, Yutzey KE. VEGF and RANKL regulation of NFATc1 in heart valve development. Circ Res. 2009;105:565\u201374.","journal-title":"Circ Res"},{"key":"55_CR31","doi-asserted-by":"publisher","first-page":"3501","DOI":"10.1242\/dev.127.16.3501","volume":"127","author":"M Kumai","year":"2000","unstructured":"Kumai M, Nishii K, Nakamura K, et al. Loss of connexin45 causes a cushion defect in early cardiogenesis. Development. 2000;127:3501\u201312.","journal-title":"Development"},{"key":"55_CR32","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/S0959-437X(00)00225-2","volume":"11","author":"IA Graef","year":"2001","unstructured":"Graef IA, Chen F, Crabtree GR. NFAT signaling in vertebrate development. Curr Opin Genet Dev. 2001;11:505\u201312.","journal-title":"Curr Opin Genet Dev"},{"key":"55_CR33","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1161\/CIRCRESAHA.111.245035","volume":"109","author":"B Wu","year":"2011","unstructured":"Wu B, Wang Y, Lui W, et al. Nfatc1 coordinates valve endocardial cell lineage development required for heart valve formation. Circ Res. 2011;109:183\u201392.","journal-title":"Circ Res"},{"issue":"14","key":"55_CR34","doi-asserted-by":"publisher","first-page":"e021631","DOI":"10.1161\/JAHA.121.021631","volume":"10","author":"GC Gabriel","year":"2021","unstructured":"Gabriel GC, Devine W, Redel BK, et al. Cardiovascular development and congenital heart disease modeling in the pig. Am Heart Assoc. 2021;10(14):e021631.","journal-title":"Am Heart Assoc"},{"key":"55_CR35","doi-asserted-by":"publisher","first-page":"157","DOI":"10.1111\/j.1749-6632.1985.tb21490.x","volume":"450","author":"CJ Epstein","year":"1985","unstructured":"Epstein CJ, Cox DR, Epstein LB. Mouse trisomy 16: an animal model of human trisomy 21 (down syndrome). Ann N Y Acad Sci. 1985;450:157\u201368.","journal-title":"Ann N Y Acad Sci"},{"key":"55_CR36","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1016\/S0008-6363(98)00037-6","volume":"39","author":"RH Anderson","year":"1998","unstructured":"Anderson RH, Webb S, Brown NA. The mouse with trisomy 16 as a model of human hearts with common atrioventricular junction. Cardiovasc Res. 1998;39:155\u201364.","journal-title":"Cardiovasc Res"}],"container-title":["Advances in Experimental Medicine and Biology","Congenital Heart Diseases: The Broken Heart"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-031-44087-8_55","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,5]],"date-time":"2025-09-05T20:10:40Z","timestamp":1757103040000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-3-031-44087-8_55"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"ISBN":["9783031440861","9783031440878"],"references-count":36,"URL":"https:\/\/doi.org\/10.1007\/978-3-031-44087-8_55","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"type":"print","value":"0065-2598"},{"type":"electronic","value":"2214-8019"}],"subject":[],"published":{"date-parts":[[2024]]},"assertion":[{"value":"18 June 2024","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}