Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
International Journal of Molecular Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1107-3756 Online ISSN: 1791-244X
Journal Cover
July-2015 Volume 36 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
July-2015 Volume 36 Issue 1

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article

A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy

  • Authors:
    • Wei Zhou
    • Lan Zhao
    • Jin‑Qi Jiang
    • Wei‑Feng Jiang
    • Yi‑Qing Yang
    • Xing‑Biao Qiu
  • View Affiliations / Copyright

    Affiliations: Department of Emergency Medicine, Shanghai Sixth People's Hospital, Shanghai Jiao Tong University, Shanghai 200233, P.R. China, Department of Cardiology, Yantaishan Hospital, Yantai, Shandong 264001, P.R. China, Department of Emergency Medicine, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China, Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China
  • Pages: 282-288
    |
    Published online on: May 11, 2015
       https://doi.org/10.3892/ijmm.2015.2206
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Dilated cardiomyopathy (DCM) represents the most prevalent form of primary cardiomyopathy, and is the most common reason for heart transplantation and a major cause of congestive heart failure. Aggregating evidence demonstrates that genetic defects are associated with DCM, and a great number of mutations in >50 genes have been linked to DCM. However, DCM is a genetically heterogeneous disorder and the genetic components underpinning DCM in a significant proportion of patients remain unknown. In the present study, the coding exons and flanking exon‑intron boundaries of the T-Box 5 (TBX5) gene, which encodes a T‑box transcription factor required for normal cardiac development, were sequenced in 146 unrelated patients with sporadic DCM. The functional characteristics of the mutant TBX5 were assayed in contrast to its wild‑type counterpart by using a dual‑luciferase reporter assay system. As a result, a novel heterozygous TBX5 mutation, p.A143T, was identified in a patient with sporadic DCM. The missense mutation, which was absent in 400 control chromosomes, altered the amino acid that was completely conserved evolutionarily among species. Biological analyses revealed that the A143T mutation of TBX5 was associated with significantly decreased transcriptional activity on the promoter of the target gene atrial natriuretic factor (ANF), when compared to its wild‑type counterpart. Furthermore, the A143T mutation abolished the synergistic activation of the ANF promoter between TBX5 and GATA binding protein 4 (GATA4), another crucial transcriptional factor for heart development. To the best of our knowledge, this is the first report on the association of a TBX5 loss‑of‑function mutation with an enhanced susceptibility to sporadic DCM, providing novel insight into the molecular mechanisms of the pathogenesis of DCM and suggesting potential implications for the prenatal prophylaxis and personalized treatment of this commonest primary myocardial disease.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

Figure 5

View References

1 

McNally EM, Golbus JR and Puckelwartz MJ: Genetic mutations and mechanisms in dilated cardiomyopathy. J Clin Invest. 123:19–26. 2013. View Article : Google Scholar : PubMed/NCBI

2 

Hershberger RE, Hedges DJ and Morales A: Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 10:531–547. 2013. View Article : Google Scholar : PubMed/NCBI

3 

Garcia-Pavia P, Cobo-Marcos M, Guzzo-Merello G, Gomez-Bueno M, Bornstein B, Lara-Pezzi E, Segovia J and Alonso-Pulpon L: Genetics in dilated cardiomyopathy. Biomarkers Med. 7:517–533. 2013. View Article : Google Scholar

4 

Koutalas E, Kanoupakis E and Vardas P: Sudden cardiac death in non-ischemic dilated cardiomyopathy: a critical appraisal of existing and potential risk stratification tools. Int J Cardiol. 167:335–341. 2013. View Article : Google Scholar

5 

Yoshikawa T: Contribution of acquired factors to the pathogenesis of dilated cardiomyopathy. -The cause of dilated cardiomyopathy: genetic or acquired? (acquired-side)-. Circ J. 75:1766–1773. 2011. View Article : Google Scholar : PubMed/NCBI

6 

Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, et al: Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 343:1688–1696. 2000. View Article : Google Scholar : PubMed/NCBI

7 

Arndt AK, Schafer S, Drenckhahn JD, Sabeh MK, Plovie ER, Caliebe A, Klopocki E, Musso G, Werdich AA, Kalwa H, et al: Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet. 93:67–77. 2013. View Article : Google Scholar : PubMed/NCBI

8 

Pankuweit S, Ruppert V, Jónsdóttir T, Müller HH and Meyer T: German Competence Network of Heart Failure: The HLA class II allele DQB1 0309 is associated with dilated cardiomyopathy. Gene. 531:180–183. 2013. View Article : Google Scholar : PubMed/NCBI

9 

Wahbi K, Béhin A, Bécane HM, Leturcq F, Cossée M, Laforêt P, Stojkovic T, Carlier P, Toussaint M, Gaxotte V, et al: Dilated cardiomyopathy in patients with mutations in anoctamin 5. Int J Cardiol. 168:76–79. 2013. View Article : Google Scholar

10 

Ruppert V, Meyer T, Richter A, Maisch B and Pankuweit S: German Competence Network of Heart Failure: Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy. Gene. 512:206–210. 2013. View Article : Google Scholar

11 

Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloğlu G, et al: SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 95:218–226. 2014. View Article : Google Scholar : PubMed/NCBI

12 

Matsa LS, Sagurthi SR, Ananthapur V, Nalla S and Nallari P: Endothelin 1 gene as a modifier in dilated cardiomyopathy. Gene. 548:256–262. 2014. View Article : Google Scholar : PubMed/NCBI

13 

Pikkarainen S, Tokola H, Kerkelä R and Ruskoaho H: GATA transcription factors in the developing and adult heart. Cardiovasc Res. 63:196–207. 2004. View Article : Google Scholar : PubMed/NCBI

14 

Cai H, Katoh-Kurasawa M, Muramoto T, Santhanam B, Long Y, Li L, Ueda M, Iglesias PA, Shaulsky G and Devreotes PN: Nucleocytoplasmic shuttling of a GATA transcription factor functions as a development timer. Science. 343:12495312014. View Article : Google Scholar : PubMed/NCBI

15 

Akazawa H and Komuro I: Cardiac transcription factor Csx/Nkx2-5: Its role in cardiac development and diseases. Pharmacol Ther. 107:252–268. 2005. View Article : Google Scholar : PubMed/NCBI

16 

Greulich F, Rudat C and Kispert A: Mechanisms of T-box gene function in the developing heart. Cardiovasc Res. 91:212–222. 2011. View Article : Google Scholar : PubMed/NCBI

17 

Oka T, Xu J and Molkentin JD: Re-employment of developmental transcription factors in adult heart disease. Semin Cell Dev Biol. 18:117–131. 2007. View Article : Google Scholar

18 

Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, et al: GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature. 424:443–447. 2003. View Article : Google Scholar : PubMed/NCBI

19 

Rajagopal SK, Ma Q, Obler D, Shen J, Manichaikul A, Tomita-Mitchell A, Boardman K, Briggs C, Garg V, Srivastava D, et al: Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol. 43:677–685. 2007. View Article : Google Scholar : PubMed/NCBI

20 

Yang YQ, Wang J, Liu XY, Chen XZ, Zhang W and Wang XZ: Mutation spectrum of GATA4 associated with congenital atrial septal defects. Arch Med Sci. 9:976–983. 2013. View Article : Google Scholar

21 

Yang YQ, Gharibeh L, Li RG, Xin YF, Wang J, Liu ZM, Qiu XB, Xu YJ, Xu L, Qu XK, et al: GATA4 loss-of-function mutations underlie familial tetralogy of Fallot. Hum Mutat. 34:1662–1671. 2013. View Article : Google Scholar : PubMed/NCBI

22 

Xiang R, Fan LL, Huang H, Cao BB, Li XP, Peng DQ and Xia K: A novel mutation of GATA4 (K319E) is responsible for familial atrial septal defect and pulmonary valve stenosis. Gene. 534:320–323. 2014. View Article : Google Scholar : PubMed/NCBI

23 

Jiang JQ, Li RG, Wang J, Liu XY, Xu YJ, Fang WY, Chen XZ, Zhang W, Wang XZ and Yang YQ: Prevalence and spectrum of GATA5 mutations associated with congenital heart disease. Int J Cardiol. 165:570–573. 2013. View Article : Google Scholar

24 

Wei D, Bao H, Zhou N, Zheng GF, Liu XY and Yang YQ: GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. Pediatr Cardiol. 34:504–511. 2013. View Article : Google Scholar

25 

Wei D, Bao H, Liu XY, Zhou N, Wang Q, Li RG, Xu YJ and Yang YQ: GATA5 loss-of-function mutations underlie tetralogy of fallot. Int J Med Sci. 10:34–42. 2013. View Article : Google Scholar : PubMed/NCBI

26 

Shi LM, Tao JW, Qiu XB, Wang J, Yuan F, Xu L, Liu H, Li RG, Xu YJ, Wang Q, et al: GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. Int J Mol Med. 33:1219–1226. 2014.PubMed/NCBI

27 

Huang RT, Xue S, Xu YJ, Zhou M and Yang YQ: Somatic GATA5 mutations in sporadic tetralogy of Fallot. Int J Mol Med. 33:1227–1235. 2014.PubMed/NCBI

28 

Zheng GF, Wei D, Zhao H, Zhou N, Yang YQ and Liu XY: A novel GATA6 mutation associated with congenital ventricular septal defect. Int J Mol Med. 29:1065–1071. 2012.PubMed/NCBI

29 

Huang RT, Xue S, Xu YJ and Yang YQ: Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot. Int J Mol Med. 31:51–58. 2013.

30 

Schott JJ, Benson DW, Basson CT, Pease W, Silberbach GM, Moak JP, Maron BJ, Seidman CE and Seidman JG: Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science. 281:108–111. 1998. View Article : Google Scholar : PubMed/NCBI

31 

Huang W, Meng H, Qiao Y, Pang S, Chen D and Yan B: Two novel and functional DNA sequence variants within an upstream enhancer of the human NKX2-5 gene in ventricular septal defects. Gene. 524:152–155. 2013. View Article : Google Scholar : PubMed/NCBI

32 

Qu XK, Qiu XB, Yuan F, Wang J, Zhao CM, Liu XY, Zhang XL, Li RG, Xu YJ, Hou XM, et al: A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. Am J Cardiol. 114:1891–1895. 2014. View Article : Google Scholar : PubMed/NCBI

33 

Heathcote K, Braybrook C, Abushaban L, Guy M, Khetyar ME, Patton MA, Carter ND, Scambler PJ and Syrris P: Common arterial trunk associated with a homeodomain mutation of NKX2.6. Hum Mol Genet. 14:585–593. 2005. View Article : Google Scholar : PubMed/NCBI

34 

Ta-Shma A, El-lahham N, Edvardson S, Stepensky P, Nir A, Perles Z, Gavri S, Golender J, Yaakobi-Simhayoff N, Shaag A, et al: Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation. J Med Genet. 51:268–270. 2014. View Article : Google Scholar : PubMed/NCBI

35 

Zhao L, Ni SH, Liu XY, Wei D, Yuan F, Xu L, Xin-Li Li RG, Qu XK, Xu YJ, et al: Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease. Eur J Med Genet. 57:579–586. 2014. View Article : Google Scholar : PubMed/NCBI

36 

Wang J, Mao JH, Ding KK, Xu WJ, Liu XY, Qiu XB, Li RG, Qu XK, Xu YJ, Huang RT, et al: A novel NKX2.6 mutation associated with congenital ventricular septal defect. Pediatr Cardiol. 36:646–656. 2015. View Article : Google Scholar

37 

Baban A, Postma AV, Marini M, Trocchio G, Santilli A, Pelegrini M, Sirleto P, Lerone M, Albanese SB, Barnett P, et al: Identification of TBX5 mutations in a series of 94 patients with Tetralogy of Fallot. Am J Med Genet A. 164A:3100–3107. 2014. View Article : Google Scholar : PubMed/NCBI

38 

McCulley DJ and Black BL: Transcription factor pathways and congenital heart disease. Curr Top Dev Biol. 100:253–277. 2012. View Article : Google Scholar : PubMed/NCBI

39 

Andersen TA, Troelsen KL and Larsen LA: Of mice and men: molecular genetics of congenital heart disease. Cell Mol Life Sci. 71:1327–1352. 2014. View Article : Google Scholar :

40 

Wang J, Sun YM and Yang YQ: Mutation spectrum of the GATA4 gene in patients with idiopathic atrial fibrillation. Mol Biol Rep. 39:8127–8135. 2012. View Article : Google Scholar : PubMed/NCBI

41 

Wang XH, Huang CX, Wang Q, Li RG, Xu YJ, Liu X, Fang WY and Yang YQ: A novel GATA5 loss-of-function mutation underlies lone atrial fibrillation. Int J Mol Med. 31:43–50. 2013.

42 

Li J, Liu WD, Yang ZL and Yang YQ: Novel GATA6 loss-of-function mutation responsible for familial atrial fibrillation. Int J Mol Med. 30:783–790. 2012.PubMed/NCBI

43 

Xie WH, Chang C, Xu YJ, Li RG, Qu XK, Fang WY, Liu X and Yang YQ: Prevalence and spectrum of Nkx2.5 mutations associated with idiopathic atrial fibrillation. Clinics (Sao Paulo). 68:777–784. 2013. View Article : Google Scholar

44 

Huang RT, Xue S, Xu YJ, Zhou M and Yang YQ: A novel NKX2.5 loss-of-function mutation responsible for familial atrial fibrillation. Int J Mol Med. 31:1119–1126. 2013.PubMed/NCBI

45 

Perera JL, Johnson NM, Judge DP and Crosson JE: Novel and highly lethal NKX2.5 missense mutation in a family with sudden death and ventricular arrhythmia. Pediatr Cardiol. 35:1206–1212. 2014. View Article : Google Scholar : PubMed/NCBI

46 

Yu H, Xu JH, Song HM, Zhao L, Xu WJ, Wang J, Li RG, Xu L, Jiang WF, Qiu XB, et al: Mutational spectrum of the NKX2-5 gene in patients with lone atrial fibrillation. Int J Med Sci. 11:554–563. 2014. View Article : Google Scholar : PubMed/NCBI

47 

Wang J, Zhang DF, Sun YM, Li RG, Qiu XB, Qu XK, Liu X, Fang WY and Yang YQ: NKX2-6 mutation predisposes to familial atrial fibrillation. Int J Mol Med. 34:1581–1590. 2014.PubMed/NCBI

48 

Postma AV, van de Meerakker JB, Mathijssen IB, Barnett P, Christoffels VM, Ilgun A, Lam J, Wilde AA, Lekanne Deprez RH and Moorman AF: A gain-of-function TBX5 mutation is associated with atypical Holt-Oram syndrome and paroxysmal atrial fibrillation. Circ Res. 102:1433–1442. 2008. View Article : Google Scholar : PubMed/NCBI

49 

Hong K and Xiong Q: Genetic basis of atrial fibrillation. Curr Opin Cardiol. 29:220–226. 2014. View Article : Google Scholar : PubMed/NCBI

50 

Li RG, Li L, Qiu XB, Yuan F, Xu L, Li X, Xu YJ, Jiang WF, Jiang JQ, Liu X, et al: GATA4 loss-of-function mutation underlies familial dilated cardiomyopathy. Biochem Biophys Res Commun. 439:591–596. 2013. View Article : Google Scholar : PubMed/NCBI

51 

Zhao L, Xu JH, Xu WJ, Yu H, Wang Q, Zheng HZ, Jiang WF, Jiang JF and Yang YQ: A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy. Int J Mol Med. 33:654–660. 2014.

52 

Zhang XL, Dai N, Tang K, Chen YQ, Chen W, Wang J, Zhao CM, Yuan F, Qiu XB, Qu XK, et al: GATA5 loss-of-function mutation in familial dilated cardiomyopathy. Int J Mol Med. 35:763–770. 2015.

53 

Xu L, Zhao L, Yuan F, Jiang WF, Liu H, Li RG, Xu YJ, Zhang M, Fang WY, Qu XK, et al: GATA6 loss-of-function mutations contribute to familial dilated cardiomyopathy. Int J Mol Med. 34:1315–1322. 2014.PubMed/NCBI

54 

Costa MW, Guo G, Wolstein O, Vale M, Castro ML, Wang L, Otway R, Riek P, Cochrane N, Furtado M, et al: Functional characterization of a novel mutation in NKX2-5 associated with congenital heart disease and adult-onset cardiomyopathy. Circ Cardiovasc Genet. 6:238–247. 2013. View Article : Google Scholar : PubMed/NCBI

55 

Yuan F, Qiu XB, Li RG, Qu XK, Wang J, Xu YJ, Liu X, Fang WY, Yang YQ and Liao DN: A novel NKX2-5 loss-of-function mutation predisposes to familial dilated cardiomyopathy and arrhythmias. Int J Mol Med. 35:478–486. 2015.

56 

Zhang XL, Qiu XB, Yuan F, Wang J, Zhao CM, Li RG, Xu L, Xu YJ, Shi HY, Hou XM, et al: TBX5 loss-of-function mutation contributes to familial dilated cardiomyopathy. Biochem Biophys Res Commun. 459:166–171. 2015. View Article : Google Scholar : PubMed/NCBI

57 

Li J, Liu WD, Yang ZL, Yuan F, Xu L, Li RG and Yang YQ: Prevalence and spectrum of GATA4 mutations associated with sporadic dilated cardiomyopathy. Gene. 548:174–181. 2014. View Article : Google Scholar : PubMed/NCBI

58 

Elliott P, O’Mahony C, Syrris P, Evans A, Rivera Sorensen C, Sheppard MN, Carr-White G, Pantazis A and McKenna WJ: Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy. Circ Cardiovasc Genet. 3:314–322. 2010. View Article : Google Scholar : PubMed/NCBI

59 

Richardson P, McKenna W, Bristow M, Maisch B, Mautner B, O’Connell J, Olsen E, Thiene G, Goodwin J, Gyarfas I, et al: Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation. 93:841–842. 1996. View Article : Google Scholar : PubMed/NCBI

60 

Hiroi Y, Kudoh S, Monzen K, Ikeda Y, Yazaki Y, Nagai R and Komuro I: Tbx5 associates with Nkx2-5 and synergistically promotes cardiomyocyte differentiation. Nat Genet. 28:276–280. 2001. View Article : Google Scholar : PubMed/NCBI

61 

Stennard FA, Costa MW, Elliott DA, Rankin S, Haast SJ, Lai D, McDonald LP, Niederreither K, Dolle P, Bruneau BG, 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. 262:206–224. 2003. View Article : Google Scholar : PubMed/NCBI

62 

Plageman TF Jr and Yutzey KE: T-box genes and heart development: putting the ‘T’ in heart. Dev Dyn. 232:11–20. 2005. View Article : Google Scholar

63 

Bruneau BG, Logan M, Davis N, Levi T, Tabin CJ, Seidman JG and Seidman CE: Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. Dev Biol. 211:100–108. 1999. View Article : Google Scholar : PubMed/NCBI

64 

Bruneau BG, Nemer G, Schmitt JP, Charron F, Robitaille L, Caron S, Conner DA, Gessler M, Nemer M, Seidman CE, et al: A murine model of Holt-Oram syndrome defines roles of the T-box transcription factor Tbx5 in cardiogenesis and disease. Cell. 106:709–721. 2001. View Article : Google Scholar : PubMed/NCBI

65 

Misra C, Chang SW, Basu M, Huang N and Garg V: Disruption of myocardial Gata4 and Tbx5 results in defects in cardiomyocyte proliferation and atrioventricular septation. Hum Mol Genet. 23:5025–5035. 2014. View Article : Google Scholar : PubMed/NCBI

66 

Kirk EP, Sunde M, Costa MW, Rankin SA, Wolstein O, Castro ML, Butler TL, Hyun C, Guo G, Otway R, et al: Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy. Am J Hum Genet. 81:280–291. 2007. View Article : Google Scholar : PubMed/NCBI

67 

Böhm J, Heinritz W, Craig A, Vujic M, Ekman-Joelsson BM, Kohlhase J and Froster U: Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. BMC Med Genet. 9:882008. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Zhou W, Zhao L, Jiang JQ, Jiang WF, Yang YQ and Qiu XB: A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy. Int J Mol Med 36: 282-288, 2015.
APA
Zhou, W., Zhao, L., Jiang, J., Jiang, W., Yang, Y., & Qiu, X. (2015). A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy. International Journal of Molecular Medicine, 36, 282-288. https://doi.org/10.3892/ijmm.2015.2206
MLA
Zhou, W., Zhao, L., Jiang, J., Jiang, W., Yang, Y., Qiu, X."A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy". International Journal of Molecular Medicine 36.1 (2015): 282-288.
Chicago
Zhou, W., Zhao, L., Jiang, J., Jiang, W., Yang, Y., Qiu, X."A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy". International Journal of Molecular Medicine 36, no. 1 (2015): 282-288. https://doi.org/10.3892/ijmm.2015.2206
Copy and paste a formatted citation
x
Spandidos Publications style
Zhou W, Zhao L, Jiang JQ, Jiang WF, Yang YQ and Qiu XB: A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy. Int J Mol Med 36: 282-288, 2015.
APA
Zhou, W., Zhao, L., Jiang, J., Jiang, W., Yang, Y., & Qiu, X. (2015). A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy. International Journal of Molecular Medicine, 36, 282-288. https://doi.org/10.3892/ijmm.2015.2206
MLA
Zhou, W., Zhao, L., Jiang, J., Jiang, W., Yang, Y., Qiu, X."A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy". International Journal of Molecular Medicine 36.1 (2015): 282-288.
Chicago
Zhou, W., Zhao, L., Jiang, J., Jiang, W., Yang, Y., Qiu, X."A novel TBX5 loss-of-function mutation associated with sporadic dilated cardiomyopathy". International Journal of Molecular Medicine 36, no. 1 (2015): 282-288. https://doi.org/10.3892/ijmm.2015.2206
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team