Citations for
1EOMES, T, TBX1, TBX15, TBX18, TBX2, TBX3, TBX4, TBX5
The Roles of T-Box Genes in Vertebrate Limb Development.
Sheeba CJ, Logan MP.
Curr Top Dev Biol 122:355-381. doi: 10.1016/bs.ctdb.2016.08.009. Epub 2016 Oct 5. 2017
2FBXO25, NKX2-5, TBX5
Fbxo25 controls Tbx5 and Nkx2-5 transcriptional activity to regulate cardiomyocyte development.
Jeong HS, Jung ES, Sim YJ, Kim SJ, Jang JW, Hong KS, Lee WY, Chung HM, Park KT, Jung YS, Kim CH, Kim KS.
Biochim Biophys Acta iochim Biophys Acta. 2015 Feb 25. pii: S1874-9399(15)00050-4. doi: 10.1016/j.bbagrm.2015.02.002. [Epub ahead of print] 2015
3TBX5
TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy.
Zhang XL, Qiu XB, Yuan F, Wang J, Zhao CM, Li RG, Xu L, Xu YJ, Shi HY, Hou XM, Qu XK, Xu YW, Yang YQ.
Biochem Biophys Res Commun iochem Biophys Res Commun. 2015 Feb 26. pii: S0006-291X(15)00334-4. doi: 10.1016/j.bbrc.2015.02.094. [Epub ahead of print] 2015
4HOS1, TBX5
Molecular basis of the clinical features of Holt-Oram syndrome resulting from missense and extended protein mutations of the TBX5 gene as well as TBX5 intragenic duplications.
Al-Qattan MM, Abou Al-Shaar H.
Gene 560(2):129-136. doi: 10.1016/j.gene.2015.02.017. Epub 2015 Feb 11. Review. 2015
5HOS1, TBX5
Novel exons in the Tbx5 gene locus generate protein isoforms with distinct expression domains and function.
Yamak A, Georges RO, Sheikh-Hassani M, Morin M, Komati H, Nemer M.
J Biol Chem Biol Chem. 2015 Jan 25. pii: jbc.M114.634451. [Epub ahead of print] 2015
6TBX5
Regulatory modulation of the T-box gene Tbx5 links development, evolution, and adaptation of the sternum.
Bickley SR, Logan MP.
Proc Natl Acad Sci U S A 111(50):17917-22. doi: 10.1073/pnas.1409913111. Epub 2014 Dec 2. 2014
7TBX5
Tbx5 is required for avian and Mammalian epicardial formation and coronary vasculogenesis.
Diman NY, Brooks G, Kruithof BP, Elemento O, Seidman JG, Seidman CE, Basson CT, Hatcher CJ.
Circ Res 115(10):834-44. doi: 10.1161/CIRCRESAHA.115.304379. Epub 2014 Sep 22. 2014
8HDAC3, TBX5
Histone deacetylase 3 modulates Tbx5 activity to regulate early cardiogenesis.
Lewandowski SL, Janardhan HP, Smee KM, Bachman M, Sun Z, Lazar MA, Trivedi CM.
Hum Mol Genet 23(14):3801-9. doi: 10.1093/hmg/ddu093. Epub 2014 Feb 23. 2014
9TBX4, TBX5
A combination of activation and repression by a colinear Hox code controls forelimb-restricted expression of Tbx5 and reveals Hox protein specificity.
Nishimoto S, Minguillon C, Wood S, Logan MP.
PLoS Genet 10(3):e1004245. doi: 10.1371/journal.pgen.1004245. eCollection 2014 Mar. 2014
10SCN5a, TBX5
TBX5 drives Scn5a expression to regulate cardiac conduction system function.
Arnolds DE, Liu F, Fahrenbach JP, Kim GH, Schillinger KJ, Smemo S, McNally EM, Nobrega MA, Patel VV, Moskowitz IP.
J Clin Invest 122(7):2509-18. doi: 10.1172/JCI62617. Epub 2012 Jun 25. 2012
11TBX5
Tbx5-hedgehog molecular networks are essential in the second heart field for atrial septation.
Xie L, Hoffmann AD, Burnicka-Turek O, Friedland-Little JM, Zhang K, Moskowitz IP.
Dev Cell 23(2):280-91. doi: 10.1016/j.devcel.2012.06.006. 2012
12FGF10, TBX4, TBX5
Multiple roles and interactions of Tbx4 and Tbx5 in development of the respiratory system.
Arora R, Metzger RJ, Papaioannou VE.
PLoS Genet 8(8):e1002866. doi: 10.1371/journal.pgen.1002866. Epub 2012 Aug 2. 2012
13TBX4, TBX5
Hox genes regulate the onset of Tbx5 expression in the forelimb.
Minguillon C, Nishimoto S, Wood S, Vendrell E, Gibson-Brown JJ, Logan MP.
Development 139(17):3180-8. doi: 10.1242/dev.084814. 2012
14TBX5
Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.
Smemo S, Campos LC, Moskowitz IP, Krieger JE, Pereira AC, Nobrega MA.
Hum Mol Genet 21(14):3255-63. doi: 10.1093/hmg/dds165. Epub 2012 Apr 27. 2012
15HOS1, TBX5
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.
Patel C, Silcock L, McMullan D, Brueton L, Cox H.
Eur J Hum Genet 20(8):863-9. doi: 10.1038/ejhg.2012.16. Epub 2012 Feb 15. 2012
16BCL2L1, BIRC5, CTNNB1, TBX5, YAP1, YES1
β-Catenin-driven cancers require a YAP1 transcriptional complex for survival and tumorigenesis.
Rosenbluh J, Nijhawan D, Cox AG, Li X, Neal JT, Schafer EJ, Zack TI, Wang X, Tsherniak A, Schinzel AC, Shao DD, Schumacher SE, Weir BA, Vazquez F, Cowley GS, Root DE, Mesirov JP, Beroukhim R, Kuo CJ, Goessling W, Hahn WC.
Cell 151(7):1457-73. doi: 10.1016/j.cell.2012.11.026. Epub 2012 Dec 13. Erratum in: Cell. 2013 Mar 28;153(1):267-70. 2012
17TBX20, TBX3, TBX5
Alternative splicing of T-box transcription factor genes.
DeBenedittis P, Jiao K.
Biochem Biophys Res Commun 412(4):513-7. Epub 2011 Aug 11. Review. 2011
18MYOCD, TBX5
Synergistic activation of cardiac genes by myocardin and Tbx5.
Wang C, Cao D, Wang Q, Wang DZ.
PLoS One 6(8):e24242. doi: 10.1371/journal.pone.0024242. Epub 2011 Aug 29. 2011
19SHOX2, TBX5
Shox2 mediates Tbx5 activity by regulating Bmp4 in the pacemaker region of the developing heart.
Puskaric S, Schmitteckert S, Mori AD, Glaser A, Schneider KU, Bruneau BG, Blaschke RJ, Steinbeisser H, Rappold G.
Hum Mol Genet 19(23):4625-33. Epub 2010 Sep 21. 2010
20HOS1, TBX5
Functional analysis of novel TBX5 T-box mutations associated with Holt-Oram syndrome.
Boogerd CJ, Dooijes D, Ilgun A, Mathijssen IB, Hordijk R, van de Laar IM, Rump P, Veenstra-Knol HE, Moorman AF, Barnett P, Postma AV.
Cardiovasc Res 88(1):130-9. doi: 10.1093/cvr/cvq178. Epub 2010 Jun 2. Erratum in: Cardiovasc Res. 2011 Jan 1;89(1):253. Mathijssen, Inge B [add 2010
21TBX4, TBX5
Tbx4 and tbx5 acting in connective tissue are required for limb muscle and tendon patterning.
Hasson P, DeLaurier A, Bennett M, Grigorieva E, Naiche LA, Papaioannou VE, Mohun TJ, Logan MP.
Dev Cell 18(1):148-56. doi: 10.1016/j.devcel.2009.11.013. 2010
22AGTR1, CETP, EPAS1, GP1BA, IHH, TBX5
Genetic contributions to the development of retinopathy of prematurity.
Mohamed S, Schaa K, Cooper ME, Ahrens E, Alvarado A, Colaizy T, Marazita ML, Murray JC, Dagle JM.
Pediatr Res 65(2):193-7. 2009
23MEF2C, MYH6, TBX5
Physical interaction between TBX5 and MEF2C is required for early heart development.
Ghosh TK, Song FF, Packham EA, Buxton S, Robinson TE, Ronksley J, Self T, Bonser AJ, Brook JD.
Mol Cell Biol 29(8):2205-18. Epub 2009 Feb 9. 2009
24HOS1, SRSF2, TBX5
Functional role of transcriptional factor TBX5 in pre-mRNA splicing and Holt-Oram syndrome via association with SC35.
Fan C, Chen Q, Wang QK.
J Biol Chem 284(38):25653-63. Epub 2009 Jul 31.PMID: 19648116 2009
25ASD2, ASD3, GATA4, ICHD, JAG1, MYH6, NKX2-5, NOTCH1, TBX1, TBX20, TBX5, TFAP2B, THRAP2
The developmental genetics of congenital heart disease.
Bruneau BG.
Nature 451(7181):943-8. 2008
26TBX5, ATP2A2
Tbx5-dependent pathway regulating diastolic function in congenital heart disease.
Zhu Y, Gramolini AO, Walsh MA, Zhou YQ, Slorach C, Friedberg MK, Takeuchi JK, Sun H, Henkelman RM, Backx PH, Redington AN, Maclennan DH, Bruneau BG.
Proc Natl Acad Sci U S A 105(14):5519-24. Epub 2008 Mar 31. 2008
27HOS1, TBX5
A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation.
Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH, Moorman AF.
Circ Res 102(11):1433-42. Epub 2008 May 1.PMID: 18451335 2008
28TBX5
A novel TBX5 missense mutation (V263M) in a family with atrial septal defects and postaxial hexodactyly.
Faria MH, Rabenhorst SH, Pereira AC, Krieger JE.
Int J Cardiol 130(1):30-5. Epub 2008 Aug 15. 2008
29TBX5, HOS1
Holt-Oram syndrome with right lung agenesis caused by a de novo mutation in the TBX5 gene.
Tseng YR, Su YN, Lu FL, Jeng SF, Hsieh WS, Chen CY, Chou HC, Peng SS.
Am J Med Genet A 143(9):1012-4. No abstract available. 2007
30HEY2, TBX5
CHF1/Hey2 plays a pivotal role in left ventricular maturation through suppression of ectopic atrial gene expression.
Koibuchi N, Chin MT.
Circ Res 100(6):850-5. Epub 2007 Mar 1. 2007
31TBX5
Using the TBX5 transcription factor to grow and sculpt the heart.
Hatcher CJ, McDermott DA.
Am J Med Genet A 140(13):1414-8. 2006
32TBX3, TBX5, RBM19
Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.
Borozdin W, Bravo-Ferrer Acosta AM, Seemanova E, Leipoldt M, Bamshad MJ, Unger S, Kohlhase J.
Am J Med Genet A 140(17):1880-6. No abstract available. 2006
33PITX1, TBX4, TBX5
Tbx5 and Tbx4 are not sufficient to determine limb-specific morphologies but have common roles in initiating limb outgrowth.
Minguillon C, Del Buono J, Logan MP.
Dev Cell 8(1):75-84. 2005
34TBX5, HOS1
TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.
McDermott DA, Bressan MC, He J, Lee JS, Aftimos S, Brueckner M, Gilbert F, Graham GE, Hannibal MC, Innis JW, Pierpont ME, Raas-Rothschild A, Shanske AL, Smith WE, Spencer RH, St John-Sutton MG, van Maldergem L, Waggoner DJ, Weber M, Basson CT.
Pediatr Res 58(5):981-6. Epub 2005 Sep 23. 2005
35NPPA, TBX5, WWTR1, YY1AP1
A WW domain protein TAZ is a critical coactivator for TBX5, a transcription factor implicated in Holt-Oram syndrome.
Murakami M, Nakagawa M, Olson EN, Nakagawa O.
Proc Natl Acad Sci U S A 102(50):18034-9. Epub 2005 Dec 6. 2005
36TBX5, HOS1
Identification of new mutations in the TBX5 gene in patients with Holt-Oram syndrome.
Heinritz W, Moschik A, Kujat A, Spranger S, Heilbronner H, Demuth S, Bier A, Tihanyi M, Mundlos S, Gruenauer-Kloevekorn C, Froster UG.
Heart 91(3):383-4. No abstract available. 2005
37HOS1, TBX5
TBX5 mutations in non-Holt-Oram syndrome (HOS) malformed hearts.
Reamon-Buettner SM, Borlak J.
Hum Mutat 24(1):104. 2004
38TBX1,TBX3, TBX4, TBX5
T-box genes and congenital heart/limb malformations.
Isphording D, Leylek AM, Yeung J, Mischel A, Simon HG.
Clin Genet 66(4):253-64. 2004
39TBX5, HOS1
Identification of the TBX5 transactivating domain and the nuclear localization signal.
Zaragoza MV, Lewis LE, Sun G, Wang E, Li L, Said-Salman I, Feucht L, Huang T.
Gene 330:9-18. 2004
40TBX5, TBX20, NPPA
Differential expression and function of Tbx5 and Tbx20 in cardiac development.
Plageman TF Jr, Yutzey KE.
J Biol Chem 279(18):19026-34. Epub 2004 Feb 20. 2004
41TBX5
TBX5, a gene mutated in Holt-Oram syndrome, is regulated through a GC box and T-box binding elements (TBEs).
Sun G, Lewis LE, Huang X, Nguyen Q, Price C, Huang T.
J Cell Biochem 92(1):189-99. Erratum in: J Cell Biochem. 2004 Jul 1;92(4):864. 2004
42TBX19, TBX2, TBX22, TBX3, TBX5
T-box genes in human disorders.
Packham EA, Brook JD.
Hum Mol Genet 12(Suppl 1):R37-44. 2003
43ASD2, GATA4, TBX5
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.
Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D.
Nature 424(6947):443-7. Epub 2003 Jul 6. 2003
44TBX5
T-box gene tbx5 is essential for formation of the pectoral limb bud.
Ahn DG, Kourakis MJ, Rohde LA, Silver LM, Ho RK.
Nature 417(6890):754-8. 2002
45TBX5
Induction of apoptosis and inhibition of cell growth by developmental regulator hTBX5.
He ML, Chen Y, Peng Y, Jin D, Du D, Wu J, Lu P, Lin MC, Kung HF.
Biochem Biophys Res Commun 297(2):185-92. 2002
46TBX5
Characterization of the TBX5 binding site and analysis of mutations that cause Holt-Oram syndrome.
Ghosh TK, Packham EA, Bonser AJ, Robinson TE, Cross SJ, Brook JD.
Hum Mol Genet 10(18):1983-94. 2001
47TBX5
Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation.
Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R, Komuro I.
Nat Genet 28(3):276-80. 2001
48HOS1, TBX5
Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.
Yang J, Hu D, Xia J, Yang Y, Ying B, Hu J, Zhou X.
Am J Med Genet 92(4):237-40. 2000
49HOS1, TBX5
Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.
Basson CT, et al.
Proc Natl Acad Sci U S A 96(6):2919-2924. 1999
50TBX5
T-box genes and the formation of vertebrate forelimb- and hindlimb specific pattern.
Simon H.
Cell Tissue Res 296(1):57-66. Review. 1999
51TBX2, TBX5
Involvement of T-box genes Tbx2-Tbx5 in vertebrate limb specification and development.
Gibson-Brown JJ, et al.
Development 125(13):2499-509. 1998
52HOS1, TBX3, TBX5
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.
Li QY, et al.
Nat Genet 15 : 21-29. 1997
53HOS1, TBX5
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome.
Basson CT, et al.
Nat Genet 15 : 30-35. 1997
54EYA1, EYA2, RFNG, TBX5
Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.
Banfi S, et al.
Nat Genet 13 : 167-174. 1996
55TBX3, TBX5
Evidence of a role for T-box genes in the evolution of limb morphogenesis and the specification of forelimb/hindlimb identity.
Gibson-Brown JJ, et al.
Mech Dev 56(1-2):93-101. 1996