Gene Symbol: Tbx5
Description: T-box 5
Alias: T-box transcription factor TBX5, T-box protein 5
Species: mouse
Products:     Tbx5

Top Publications

  1. Hidaka K, Shirai M, Lee J, Wakayama T, Kodama I, Schneider M, et al. The cellular prion protein identifies bipotential cardiomyogenic progenitors. Circ Res. 2010;106:111-9 pubmed publisher
    ..Thus, PrP demarcates a population of bipotential cardiomyogenic progenitor cells that can differentiate into cardiac or smooth muscle cells. ..
  2. Bakker M, Boukens B, Mommersteeg M, Brons J, Wakker V, Moorman A, et al. Transcription factor Tbx3 is required for the specification of the atrioventricular conduction system. Circ Res. 2008;102:1340-9 pubmed publisher
    ..Our data suggest a mechanism in which Tbx3 represses differentiation into ventricular working myocardium, thereby imposing the conduction system phenotype on cells within its expression domain. ..
  3. Später D, Abramczuk M, Buac K, Zangi L, Stachel M, Clarke J, et al. A HCN4+ cardiomyogenic progenitor derived from the first heart field and human pluripotent stem cells. Nat Cell Biol. 2013;15:1098-106 pubmed publisher
    ..We conclude that a primary purpose of the FHF is to generate cardiac muscle and support the contractile activity of the primitive heart tube, whereas SHF-derived progenitors contribute to heart cell lineage diversification. ..
  4. DeLaurier A, Schweitzer R, Logan M. Pitx1 determines the morphology of muscle, tendon, and bones of the hindlimb. Dev Biol. 2006;299:22-34 pubmed
    ..Three genes have been implicated in this process; T-box transcription factors Tbx5 and Tbx4, which are expressed in the forelimb and hindlimb, respectively, and a paired-type homeodomain ..
  5. Habets P, Moorman A, Clout D, van Roon M, Lingbeek M, Van Lohuizen M, et al. Cooperative action of Tbx2 and Nkx2.5 inhibits ANF expression in the atrioventricular canal: implications for cardiac chamber formation. Genes Dev. 2002;16:1234-46 pubmed
    ..5 on the ANF TBE-NKE, and was able to repress ANF promoter activity. Our data provide a potential mechanism for chamber-restricted gene activity in which the cooperative action of Tbx2 and Nkx2.5 inhibits expression in the AVC. ..
  6. Hasson P, DeLaurier A, Bennett M, Grigorieva E, Naiche L, Papaioannou V, et al. Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning. Dev Cell. 2010;18:148-56 pubmed publisher
    ..We find that deletion of Tbx5 in forelimbs (or Tbx4 in hindlimbs) specifically affects muscle and tendon patterning without disrupting skeletal ..
  7. Smemo S, Campos L, Moskowitz I, Krieger J, Pereira A, Nobrega M. Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum Mol Genet. 2012;21:3255-63 pubmed publisher
    ..variation in congenital heart diseases (CHDs), we searched for regulatory mutations impacting the activity of TBX5, a dosage-dependent transcription factor with well-defined roles in the heart and limb development that has been ..
  8. Minguillon C, Gibson Brown J, Logan M. Tbx4/5 gene duplication and the origin of vertebrate paired appendages. Proc Natl Acad Sci U S A. 2009;106:21726-30 pubmed publisher
    ..The T-box genes Tbx5 and Tbx4 encode two closely related transcription factors that are the earliest factors required to initiate ..
  9. Minguillon C, Nishimoto S, Wood S, Vendrell E, Gibson Brown J, Logan M. Hox genes regulate the onset of Tbx5 expression in the forelimb. Development. 2012;139:3180-8 pubmed publisher
    Tbx4 and Tbx5 are two closely related T-box genes that encode transcription factors expressed in the prospective hindlimb and forelimb territories, respectively, of all jawed vertebrates...

More Information


  1. Naiche L, Papaioannou V. Loss of Tbx4 blocks hindlimb development and affects vascularization and fusion of the allantois. Development. 2003;130:2681-93 pubmed
  2. Sowden J, Holt J, Meins M, Smith H, Bhattacharya S. Expression of Drosophila omb-related T-box genes in the developing human and mouse neural retina. Invest Ophthalmol Vis Sci. 2001;42:3095-102 pubmed
    ..Mouse Tbx2, Tbx3, and Tbx5 and human TBX2 cDNAs were isolated from retinal cDNA libraries by hybridization to the Drosophila omb gene...
  3. Christoffels V, Habets P, Franco D, Campione M, de Jong F, Lamers W, et al. Chamber formation and morphogenesis in the developing mammalian heart. Dev Biol. 2000;223:266-78 pubmed
    ..govern compartmentalization in the forming heart is seen in the patterns of expression of Hand1 for the dorsoventral axis, Irx4 and Tbx5 for the anteroposterior axis, and Irx5 for the distinction between primary and chamber myocardium.
  4. Cai C, Zhou W, Yang L, Bu L, Qyang Y, Zhang X, et al. T-box genes coordinate regional rates of proliferation and regional specification during cardiogenesis. Development. 2005;132:2475-87 pubmed
  5. Basson C, Bachinsky D, Lin R, Levi T, Elkins J, Soults J, et al. Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet. 1997;15:30-5 pubmed
    ..Here, we demonstrate that mutations in the human TBX5 gene underlie this disorder. TBX5 was cloned from the disease locus on human chromosome 12q24...
  6. Douglas N, Heng K, Sauer M, Papaioannou V. Dynamic expression of Tbx2 subfamily genes in development of the mouse reproductive system. Dev Dyn. 2012;241:365-75 pubmed publisher
    Tbx2, Tbx3, Tbx4, and Tbx5, members of the Tbx2 subfamily of T-box transcription factor genes, are important for many aspects of embryonic development and mutations in some human TBX2 subfamily genes cause developmental syndromes...
  7. Takeuchi J, Ohgi M, Koshiba Takeuchi K, Shiratori H, Sakaki I, Ogura K, et al. Tbx5 specifies the left/right ventricles and ventricular septum position during cardiogenesis. Development. 2003;130:5953-64 pubmed
    Extensive misexpression studies were carried out to explore the roles played by Tbx5, the expression of which is excluded from the right ventricle (RV) during cardiogenesis...
  8. Ribeiro I, Kawakami Y, Buscher D, Raya A, Rodriguez Leon J, Morita M, et al. Tbx2 and Tbx3 regulate the dynamics of cell proliferation during heart remodeling. PLoS ONE. 2007;2:e398 pubmed
  9. Mui S, Hindges R, O Leary D, Lemke G, Bertuzzi S. The homeodomain protein Vax2 patterns the dorsoventral and nasotemporal axes of the eye. Development. 2002;129:797-804 pubmed
    ..Vax2 mutants also exhibit flattened DV and NT gradients of the EphA5, EphB2, EphB3, ephrin-B1 and ephrin-B2 axon guidance cues. Together, these data identify Vax2 as a fundamental regulator of axial polarization in the mammalian retina. ..
  10. Li Q, Newbury Ecob R, Terrett J, Wilson D, Curtis A, Yi C, et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet. 1997;15:21-9 pubmed
    ..We have now identified a gene for this disorder (HOS1). The gene (TBX5) is a member of the Brachyury (T) family corresponding to the mouse Tbx5 gene...
  11. Takeuchi J, Lou X, Alexander J, Sugizaki H, Delgado Olguin P, Holloway A, et al. Chromatin remodelling complex dosage modulates transcription factor function in heart development. Nat Commun. 2011;2:187 pubmed publisher
    ..Disrupting the balance between Brg1 and disease-causing cardiac transcription factors, including Tbx5, Tbx20 and Nkx2-5, causes severe cardiac anomalies, revealing an essential allelic balance between Brg1 and these ..
  12. Matt N, Dupé V, Garnier J, Dennefeld C, Chambon P, Mark M, et al. Retinoic acid-dependent eye morphogenesis is orchestrated by neural crest cells. Development. 2005;132:4789-800 pubmed
    ..We additionally show that RALDH1 and RALDH3 are the only enzymes that are required for RA synthesis in the eye region from E10.5 to E13.5, and that patterning of the dorsoventral axis of the retina does not require RA. ..
  13. Chen J, Krane M, Deutsch M, Wang L, Rav Acha M, Gregoire S, et al. Inefficient reprogramming of fibroblasts into cardiomyocytes using Gata4, Mef2c, and Tbx5. Circ Res. 2012;111:50-5 pubmed publisher
    ..To assess the efficiency of direct fibroblast reprogramming via viral overexpression of GATA4, Mef2c, and Tbx5 (GMT)...
  14. Ghosh T, Packham E, Bonser A, Robinson T, Cross S, Brook J. Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome. Hum Mol Genet. 2001;10:1983-94 pubmed
    Holt-Oram syndrome is caused by mutations in TBX5, a member of the T-box gene family. In order to identify DNA sequences to which the TBX5 protein binds, we have performed an in vitro binding site selection assay...
  15. Mui S, Kim J, Lemke G, Bertuzzi S. Vax genes ventralize the embryonic eye. Genes Dev. 2005;19:1249-59 pubmed
  16. Snyder M, Huang X, Zhang J. Stat3 directly controls the expression of Tbx5, Nkx2.5, and GATA4 and is essential for cardiomyocyte differentiation of P19CL6 cells. J Biol Chem. 2010;285:23639-46 pubmed publisher
    ..to the promoters and regulates the expression of three genes that are essential for cardiac differentiation: Tbx5, Nkx2.5, and GATA4. We further demonstrate that Tbx5, Nkx2...
  17. Ieda M, Fu J, Delgado Olguin P, Vedantham V, Hayashi Y, Bruneau B, et al. Direct reprogramming of fibroblasts into functional cardiomyocytes by defined factors. Cell. 2010;142:375-86 pubmed publisher
    ..Here, we report that a combination of three developmental transcription factors (i.e., Gata4, Mef2c, and Tbx5) rapidly and efficiently reprogrammed postnatal cardiac or dermal fibroblasts directly into differentiated ..
  18. Sekine K, Ohuchi H, Fujiwara M, Yamasaki M, Yoshizawa T, Sato T, et al. Fgf10 is essential for limb and lung formation. Nat Genet. 1999;21:138-41 pubmed
    ..Thus, we show here that Fgf10 serves as an essential regulator of lung and limb formation. ..
  19. Hoogaars W, Tessari A, Moorman A, de Boer P, Hagoort J, Soufan A, et al. The transcriptional repressor Tbx3 delineates the developing central conduction system of the heart. Cardiovasc Res. 2004;62:489-99 pubmed
    ..is able to repress Nppa and Cx40 promoter activity and abolish the synergistic activation of the Nppa promoter by Tbx5 and Nkx2.5...
  20. Frank D, Carter K, Thomas K, Burr R, Bakker M, Coetzee W, et al. Lethal arrhythmias in Tbx3-deficient mice reveal extreme dosage sensitivity of cardiac conduction system function and homeostasis. Proc Natl Acad Sci U S A. 2012;109:E154-63 pubmed publisher
    ..TBX3 and its regulatory targets merit investigation as candidates for human arrhythmias. ..
  21. Agulnik S, Garvey N, Hancock S, Ruvinsky I, Chapman D, Agulnik I, et al. Evolution of mouse T-box genes by tandem duplication and cluster dispersion. Genetics. 1996;144:249-54 pubmed
    ..Here, we report the discovery of three new members of the mouse T-box gene family, named Tbx4, Tbx5, and Tbx6...
  22. Liberatore C, Searcy Schrick R, Yutzey K. Ventricular expression of tbx5 inhibits normal heart chamber development. Dev Biol. 2000;223:169-80 pubmed
    The T-box gene tbx5 is expressed in the developing heart, forelimb, eye, and liver in vertebrate embryos during critical stages of morphogenesis and patterning...
  23. Koshiba Takeuchi K, Mori A, Kaynak B, Cebra Thomas J, Sukonnik T, Georges R, et al. Reptilian heart development and the molecular basis of cardiac chamber evolution. Nature. 2009;461:95-8 pubmed publisher
    ..Both reptiles initially form a ventricular chamber that homogenously expresses the T-box transcription factor gene Tbx5. In contrast, in birds and mammals, Tbx5 is restricted to left ventricle precursors...
  24. Koshiba Takeuchi K, Takeuchi J, Arruda E, Kathiriya I, Mo R, Hui C, et al. Cooperative and antagonistic interactions between Sall4 and Tbx5 pattern the mouse limb and heart. Nat Genet. 2006;38:175-83 pubmed
    Human mutations in TBX5, a gene encoding a T-box transcription factor, and SALL4, a gene encoding a zinc-finger transcription factor, cause similar upper limb and heart defects...
  25. Yang L, Cai C, Lin L, Qyang Y, Chung C, Monteiro R, et al. Isl1Cre reveals a common Bmp pathway in heart and limb development. Development. 2006;133:1575-85 pubmed
    ..Tbx3 is required for heart and limb formation, and is mutated in ulnar-mammary syndrome. We provide evidence that the Tbx3 promoter is directly regulated by Bmp Smads in vivo. ..
  26. Arora R, Metzger R, Papaioannou V. Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system. PLoS Genet. 2012;8:e1002866 pubmed publisher
    ..Both Tbx4 and Tbx5 are expressed throughout the mesenchyme of the developing lung and trachea; and, although multiple genes are known ..
  27. Norden J, Grieskamp T, Lausch E, van Wijk B, van den Hoff M, Englert C, et al. Wt1 and retinoic acid signaling in the subcoelomic mesenchyme control the development of the pleuropericardial membranes and the sinus horns. Circ Res. 2010;106:1212-20 pubmed publisher
    ..Thus, our results provide novel insight into the genetic and cellular pathways regulating the posterior extension of the mammalian heart and the formation of its coelomic lining. ..
  28. Ouimette J, Jolin M, L honoré A, Gifuni A, Drouin J. Divergent transcriptional activities determine limb identity. Nat Commun. 2010;1:35 pubmed publisher
    ..by limb-restricted regulators such as hindlimb (HL) transcription factors Pitx1 and Tbx4 and the forelimb (FL) Tbx5. Both Tbx factors have been implicated in limb patterning and growth, but their relative activities and underlying ..
  29. Wang C, Cao D, Wang Q, Wang D. Synergistic activation of cardiac genes by myocardin and Tbx5. PLoS ONE. 2011;6:e24242 pubmed publisher
    ..Here, we show that myocardin directly interacts with Tbx5, a member of the T-box family of transcription factors involved in the Holt-Oram syndrome...
  30. Davenport T, Jerome Majewska L, Papaioannou V. Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. Development. 2003;130:2263-73 pubmed
  31. Barbieri A, Broccoli V, Bovolenta P, Alfano G, Marchitiello A, Mocchetti C, et al. Vax2 inactivation in mouse determines alteration of the eye dorsal-ventral axis, misrouting of the optic fibres and eye coloboma. Development. 2002;129:805-13 pubmed
    ..Vax2 inactivation determines dorsalisation of the expression of mid-late (Ephb2 and Efnb2) but not early (Pax2 and Tbx5) markers of dorsal-ventral polarity in the developing retina...
  32. Bruneau B, Logan M, Davis N, Levi T, Tabin C, Seidman J, et al. Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Dev Biol. 1999;211:100-8 pubmed
    To further define the role of a T-box transcription factor, Tbx5, in cardiac development, we have examined its expression in the developing mouse and chick heart and correlated this pattern with cardiac defects caused by human TBX5 ..
  33. Mesbah K, Rana M, Francou A, van Duijvenboden K, Papaioannou V, Moorman A, et al. Identification of a Tbx1/Tbx2/Tbx3 genetic pathway governing pharyngeal and arterial pole morphogenesis. Hum Mol Genet. 2012;21:1217-29 pubmed publisher
    ..2DS patients. ..
  34. Chapman D, Garvey N, Hancock S, Alexiou M, Agulnik S, Gibson Brown J, et al. Expression of the T-box family genes, Tbx1-Tbx5, during early mouse development. Dev Dyn. 1996;206:379-90 pubmed
    ..study of the function and evolution of these genes, we have examined the expression of 5 of these genes, Tbx1-Tbx5, across a wide range of embryonic stages from blastocyst through gastrulation and early organogenesis by in situ ..
  35. Lanctot C, Moreau A, Chamberland M, Tremblay M, Drouin J. Hindlimb patterning and mandible development require the Ptx1 gene. Development. 1999;126:1805-10 pubmed
    ..the mutant limb buds appear to have retained their molecular identity as assessed by forelimb expression of Tbx5 and by hindlimb expression of Tbx4, even though Tbx4 expression is decreased in Ptx1 null mice...
  36. Maretto S, Cordenonsi M, Dupont S, Braghetta P, Broccoli V, Hassan A, et al. Mapping Wnt/beta-catenin signaling during mouse development and in colorectal tumors. Proc Natl Acad Sci U S A. 2003;100:3299-304 pubmed
    ..In summary, BAT-gal mice unveil the entire complexity of Wntbeta-catenin signaling in mammals and have broad application potentials for the identification of Wnt-responsive cell populations in development and disease. ..
  37. Stennard F, Costa M, Elliott D, Rankin S, Haast S, Lai D, et al. Cardiac T-box factor Tbx20 directly interacts with Nkx2-5, GATA4, and GATA5 in regulation of gene expression in the developing heart. Dev Biol. 2003;262:206-24 pubmed
    ..sites resembling the consensus brachyury half site, although with less avidity compared with the related factor, Tbx5. Tbx20 physically interacted with cardiac transcription factors Nkx2-5, GATA4, and GATA5, collaborating to ..
  38. Plageman T, Yutzey K. Microarray analysis of Tbx5-induced genes expressed in the developing heart. Dev Dyn. 2006;235:2868-80 pubmed
    b>Tbx5 is a member of the T-box family of transcription factors and is associated with Holt-Oram syndrome (HOS), a congenital disorder characterized by heart and limb defects...
  39. Gibson Brown J, Agulnik S, Chapman D, Alexiou M, Garvey N, Silver L, et al. Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity. Mech Dev. 1996;56:93-101 pubmed
    ..1996) Dev. Dyn., in press), and four (Tbx2-Tbx5) are represented as two cognate, linked gene pairs (Agulnik et al., (1996), Genetics, in press)...
  40. Zhu Y, Gramolini A, Walsh M, Zhou Y, Slorach C, Friedberg M, et al. Tbx5-dependent pathway regulating diastolic function in congenital heart disease. Proc Natl Acad Sci U S A. 2008;105:5519-24 pubmed publisher
    ..Haploinsufficiency of the T-box transcription factor Tbx5 in mouse and man causes congenital heart defects (CHDs) as part of Holt-Oram syndrome (HOS)...
  41. Rallis C, Bruneau B, Del Buono J, Seidman C, Seidman J, Nissim S, et al. Tbx5 is required for forelimb bud formation and continued outgrowth. Development. 2003;130:2741-51 pubmed
    b>Tbx5 is a T-box transcription factor expressed exclusively in the developing forelimb but not in the developing hindlimb of vertebrates...
  42. Harrelson Z, Kelly R, Goldin S, Gibson Brown J, Bollag R, Silver L, et al. Tbx2 is essential for patterning the atrioventricular canal and for morphogenesis of the outflow tract during heart development. Development. 2004;131:5041-52 pubmed
  43. McFadden D, Barbosa A, Richardson J, Schneider M, Srivastava D, Olson E. The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner. Development. 2005;132:189-201 pubmed
    ..These findings demonstrate that Hand factors play pivotal and partially redundant roles in cardiac morphogenesis, cardiomyocyte differentiation and cardiac-specific transcription. ..
  44. Minguillon C, Del Buono J, Logan M. Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth. Dev Cell. 2005;8:75-84 pubmed
    Morphological differences between forelimbs and hindlimbs are thought to be regulated by Tbx5 expressed in the forelimb and Tbx4 and Pitx1 expressed in the hindlimb...
  45. Hasson P, Del Buono J, Logan M. Tbx5 is dispensable for forelimb outgrowth. Development. 2007;134:85-92 pubmed
    b>Tbx5 is essential for initiation of the forelimb, and its deletion in mice results in the failure of forelimb formation...
  46. Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, et al. Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat Genet. 2001;28:276-80 pubmed
    ..Using the yeast two-hybrid system with Nkx2-5 as the 'bait', we isolated the T-box-containing transcription factor Tbx5; mutations in TBX5 cause heart and limb malformations in Holt-Oram syndrome (HOS)...
  47. Xu B, Wellik D. Axial Hox9 activity establishes the posterior field in the developing forelimb. Proc Natl Acad Sci U S A. 2011;108:4888-91 pubmed publisher
    ..This Hox9 mutant phenotype is restricted to the forelimbs; mutant hindlimbs are normal, revealing fundamental differences in the patterning mechanisms governing the establishment of forelimb and hindlimb fields. ..
  48. Nadeau M, Georges R, Laforest B, Yamak A, Lefebvre C, Beauregard J, et al. An endocardial pathway involving Tbx5, Gata4, and Nos3 required for atrial septum formation. Proc Natl Acad Sci U S A. 2010;107:19356-61 pubmed publisher
    ..We report that transcription factor Tbx5 is present in a subpopulation of endocardial cells and that its deletion therein results in fully penetrant, dose-..
  49. Zhao X, Sirbu I, Mic F, Molotkova N, Molotkov A, Kumar S, et al. Retinoic acid promotes limb induction through effects on body axis extension but is unnecessary for limb patterning. Curr Biol. 2009;19:1050-7 pubmed publisher
  50. Molotkov A, Molotkova N, Duester G. Retinoic acid guides eye morphogenetic movements via paracrine signaling but is unnecessary for retinal dorsoventral patterning. Development. 2006;133:1901-10 pubmed
    ..for the establishment or maintenance of dorsoventral patterning in the retina, as we observe normal expression of Tbx5 and ephrin B2 (Efnb2) dorsally, plus Vax2 and Ephb2 ventrally...
  51. Paylor R, Glaser B, Mupo A, Ataliotis P, Spencer C, Sobotka A, et al. Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: implications for 22q11 deletion syndrome. Proc Natl Acad Sci U S A. 2006;103:7729-34 pubmed
    ..Thus, Tbx1 and Gnb1l are strong candidates for psychiatric disease in 22q11DS patients and candidate susceptibility genes for psychiatric disease in the wider population. ..
  52. Takeuchi J, Mileikovskaia M, Koshiba Takeuchi K, Heidt A, Mori A, Arruda E, et al. Tbx20 dose-dependently regulates transcription factor networks required for mouse heart and motoneuron development. Development. 2005;132:2463-74 pubmed
    ..We conclude that Tbx20 is positioned at a critical node in transcription factor networks required for heart and motoneuron development where it dose-dependently regulates gene expression. ..
  53. Pu W, Ishiwata T, Juraszek A, Ma Q, Izumo S. GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev Biol. 2004;275:235-44 pubmed
    ..development is orchestrated by a set of highly conserved transcription factors that includes GATA4, Nkx2-5, and Tbx5. Heterozygous mutation of each of these genes causes congenital heart disease in humans...
  54. Stennard F, Harvey R. T-box transcription factors and their roles in regulatory hierarchies in the developing heart. Development. 2005;132:4897-910 pubmed
    ..At least seven family members are expressed in the developing mammalian heart, and the human T-box genes TBX1 and TBX5 are mutated in cardiac congenital anomaly syndromes...
  55. Ma L, Lu M, Schwartz R, Martin J. Bmp2 is essential for cardiac cushion epithelial-mesenchymal transition and myocardial patterning. Development. 2005;132:5601-11 pubmed
    ..Our data indicate that Bmp2 has a crucial role in coordinating multiple aspects of AV canal morphogenesis. ..
  56. Agarwal P, Wylie J, Galceran J, Arkhitko O, Li C, Deng C, et al. Tbx5 is essential for forelimb bud initiation following patterning of the limb field in the mouse embryo. Development. 2003;130:623-33 pubmed
    ..The T-box transcription factor TBX5 is important for normal heart and limb formation, but its role in early limb development is not well defined...
  57. Bruneau B, Nemer G, Schmitt J, Charron F, Robitaille L, Caron S, et al. A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell. 2001;106:709-21 pubmed
    Heterozygous Tbx5(del/+) mice were generated to study the mechanisms by which TBX5 haploinsufficiency causes cardiac and forelimb abnormalities seen in Holt-Oram syndrome...
  58. Arnolds D, Liu F, Fahrenbach J, Kim G, Schillinger K, Smemo S, et al. TBX5 drives Scn5a expression to regulate cardiac conduction system function. J Clin Invest. 2012;122:2509-18 pubmed publisher
    ..association studies (GWAS) have identified numerous loci associated with adult human CCS function, including TBX5 and SCN5A...
  59. Georges R, Nemer G, Morin M, Lefebvre C, Nemer M. Distinct expression and function of alternatively spliced Tbx5 isoforms in cell growth and differentiation. Mol Cell Biol. 2008;28:4052-67 pubmed publisher
    Mutations in the T-box transcription factor Tbx5 cause Holt-Oram syndrome, an autosomal dominant disease characterized by a wide spectrum of cardiac and upper limb defects with variable expressivity...
  60. Moskowitz I, Kim J, Moore M, Wolf C, Peterson M, Shendure J, et al. A molecular pathway including Id2, Tbx5, and Nkx2-5 required for cardiac conduction system development. Cell. 2007;129:1365-76 pubmed
    ..A 1.2 kb fragment of the Id2 promoter proved sufficient for cooperative regulation by Nkx2-5 and Tbx5 in vitro and for conduction-system-specific gene expression in vivo...
  61. Zhou Y, Zhu Y, Bishop J, Davidson L, Henkelman R, Bruneau B, et al. Abnormal cardiac inflow patterns during postnatal development in a mouse model of Holt-Oram syndrome. Am J Physiol Heart Circ Physiol. 2005;289:H992-H1001 pubmed
    b>Tbx5(del/+) mice provide a model of human Holt-Oram syndrome...
  62. Maitra M, Schluterman M, Nichols H, Richardson J, Lo C, Srivastava D, et al. Interaction of Gata4 and Gata6 with Tbx5 is critical for normal cardiac development. Dev Biol. 2009;326:368-77 pubmed publisher
    ..The mutation (G296S) exhibited biochemical deficits and disrupted a novel interaction between Gata4 and Tbx5. To determine if Gata4 and Tbx5 genetically interact in vivo, we generated mice heterozygous for both alleles...
  63. Cebra Thomas J, Bromer J, Gardner R, Lam G, Sheipe H, Gilbert S. T-box gene products are required for mesenchymal induction of epithelial branching in the embryonic mouse lung. Dev Dyn. 2003;226:82-90 pubmed
    ..AS ODNs) and in vitro culture of embryonic lungs, we demonstrate that the transcription factors Tbx4 and Tbx5 are critical for the expression of mesenchymal FGF10...
  64. Gottlieb P, Pierce S, Sims R, Yamagishi H, Weihe E, Harriss J, et al. Bop encodes a muscle-restricted protein containing MYND and SET domains and is essential for cardiac differentiation and morphogenesis. Nat Genet. 2002;31:25-32 pubmed
    ..These results indicate that m-Bop is essential for cardiomyocyte differentiation and cardiac morphogenesis. ..