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
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
October-2016 Volume 14 Issue 4

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
October-2016 Volume 14 Issue 4

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 TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect

  • Authors:
    • Yi‑Meng Zhou
    • Xiao‑Yong Dai
    • Ri‑Tai Huang
    • Song Xue
    • Ying‑Jia Xu
    • Xing‑Biao Qiu
    • Yi‑Qing Yang
  • View Affiliations / Copyright

    Affiliations: Department of Emergency Medicine, Yangpu Hospital, Tongji University School of Medicine, Shanghai 200090, P.R. China, Department of Cardiovascular Surgery, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, P.R. China, Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China
  • Pages: 3307-3314
    |
    Published online on: August 9, 2016
       https://doi.org/10.3892/mmr.2016.5609
  • 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) is the most prevalent form of primary cardiomyopathy in humans and is a leading cause of heart failure and sudden cardiac death. Genetic abnormalities have been demonstrated to be a major contributor to the development of DCM. However, DCM is a genetically heterogeneous disease, and the genetic basis underlying DCM in a significant proportion of patients remains unclear. In the current study, the coding exons and splicing junction sites of the T‑Box 20 (TBX20) gene, which encodes a T‑box transcription factor essential for cardiac morphogenesis and structural remodeling, were sequenced in 115 unrelated patients with idiopathic DCM, and a novel heterozygous mutation, p.E143X, was identified in one patient. Genetic analysis of the mutation carrier's pedigree indicated that the nonsense mutation was present in all the living family members with DCM, and also in a female patient with a congenital atrial septal defect. The mutation, which was predicted to generate a truncated protein with only the N‑terminus and a fraction of the T‑box domain remaining, was absent in 800 control chromosomes. Functional assays using a dual‑luciferase reporter assay system revealed that the truncated TBX20 protein had no transcriptional activity in contrast to its wild‑type counterpart. Furthermore, the mutation abolished the synergistic activation between TBX20 and NK2 homeobox 5, or between TBX20 and GATA binding protein 4. The observations of the current study expand the mutation spectrum of TBX20 associated with DCM and congenital heart disease (CHD), which provide novel insight into the molecular mechanisms underlying DCM and CHD, suggesting the potential implications for the effective and personalized treatment of these diseases.
View Figures

Figure 1

Figure 2

Figure 3

View References

1 

Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB; American Heart Association; et al Contemporary definitions and classification of the cardiomyopathies; An American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; Council on Epidemiology and Prevention: Circulation. 113:1807–1816. 2006. View Article : Google Scholar : PubMed/NCBI

2 

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. Biomark Med. 7:517–533. 2013. View Article : Google Scholar : PubMed/NCBI

3 

Chen W, Huo J, Ma A, Bai L and Liu P: A novel mutation of the LMNA gene in a family with dilated cardiomyopathy, conduction system disease, and sudden cardiac death of young females. Mol Cell Biochem. 382:307–311. 2013. View Article : Google Scholar : PubMed/NCBI

4 

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

5 

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 cardio-myopathy. Am J Hum Genet. 95:218–226. 2014. View Article : Google Scholar : PubMed/NCBI

6 

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

7 

Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, et al: Atlas of the clinical genetics of human dilated cardiomyopathy. Eur Heart J. 36:1123–1135a. 2015. View Article : Google Scholar

8 

Reinstein E, Orvin K, Tayeb-Fligelman E, Stiebel-Kalish H, Tzur S, Pimienta AL, Bazak L, Bengal T, Cohen L, Gaton DD, et al: Mutations in TAX1BP3 cause dilated cardiomyopathy with septooptic dysplasia. Hum Mutat. 36:439–442. 2015. 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 

Flack E and Kannankeril PJ: The genetics of dilated cardiomyopathy. Heart Rhythm. 9:397–398. 2012. View Article : Google Scholar

11 

Pashmforoush M, Lu JT, Chen H, Amand TS, Kondo R, Pradervand S, Evans SM, Clark B, Feramisco JR, Giles W, et al: Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block. Cell. 117:373–386. 2004. View Article : Google Scholar : PubMed/NCBI

12 

Prall OW, Menon MK, Solloway MJ, Watanabe Y, Zaffran S, Bajolle F, Biben C, McBride JJ, Robertson BR, Chaulet H, et al: An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation. Cell. 128:947–959. 2007. 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 

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

15 

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

16 

Song K, Nam YJ, Luo X, Qi X, Tan W, Huang GN, Acharya A, Smith CL, Tallquist MD, Neilson EG, et al: Heart repair by reprogramming non-myocytes with cardiac transcription factors. Nature. 485:599–604. 2012. View Article : Google Scholar : PubMed/NCBI

17 

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

18 

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

19 

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

20 

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

21 

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

22 

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

23 

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

24 

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

25 

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

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 

Wang X, Ji W, Wang J, Zhao P, Guo Y, Xu R, Chen S and Sun K: Identification of two novel GATA6 mutations in patients with nonsyndromic conotruncal heart defects. Mol Med Rep. 10:743–748. 2014.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 

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

31 

Al-Qattan MM and Abou Al-Shaar H: 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 ntragenic duplications. Gene. 560:129–136. 2015. View Article : Google Scholar : PubMed/NCBI

32 

Pan Y, Geng R, Zhou N, Zheng GF, Zhao H, Wang J, Zhao CM, Qiu XB, Yang YQ and Liu XY: TBX20 loss-of-function mutation contributes to double outlet right ventricle. Int J Mol Med. 35:1058–1066. 2015.PubMed/NCBI

33 

Andersen TA, Troelsen Kde L 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 :

34 

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

35 

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

36 

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

37 

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

38 

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.

39 

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

40 

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

41 

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

42 

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.

43 

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

44 

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.

45 

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

46 

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.

47 

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

48 

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

49 

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.PubMed/NCBI

50 

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

51 

Kervestin S and Jacobson A: NMD: A multifaceted response to premature translational termination. Nat Rev Mol Cell Biol. 13:700–712. 2012. View Article : Google Scholar : PubMed/NCBI

52 

Keeling KM and Bedwell DM: Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases. Wiley Interdiscip Rev RNA. 2:837–852. 2011. View Article : Google Scholar : PubMed/NCBI

53 

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

54 

Qian L, Mohapatra B, Akasaka T, Liu J, Ocorr K, Towbin JA and Bodmer R: Transcription factor neuromancer/TBX20 is required for cardiac function in Drosophila with implications for human heart disease. Proc Natl Acad Sci USA. 105:19833–19838. 2008. View Article : Google Scholar : PubMed/NCBI

55 

Zhao CM, Bing-Sun, Song HM, Wang J, Xu WJ, Jiang JF, Qiu XB, Yuan F, Xu JH and Yang YQ: TBX20 loss-of-function mutation associated with familial dilated cardiomyopathy. Clin Chem Lab Med. 54:325–332. 2016. View Article : Google Scholar

56 

Shen T, Aneas I, Sakabe N, Dirschinger RJ, Wang G, Smemo S, Westlund JM, Cheng H, Dalton N, Gu Y, et al: Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function. J Clin Invest. 121:4640–4654. 2011. View Article : Google Scholar : PubMed/NCBI

57 

Shen T, Yang C, Ding L, Zhu Y, Ruan Y, Cheng H, Qin W, Huang X, Zhang H, Man Y, et al: Tbx20 functions as an important regulator of estrogen-mediated cardiomyocyte protection during oxidative stress. Int J Cardiol. 168:3704–3714. 2013. View Article : Google Scholar : PubMed/NCBI

58 

Liu C, Shen A, Li X, Jiao W, Zhang X and Li Z: T-box transcription factor TBX20 mutations in Chinese patients with congenital heart disease. Eur J Med Genet. 51:580–587. 2008. View Article : Google Scholar : PubMed/NCBI

59 

Posch MG, Gramlich M, Sunde M, Schmitt KR, Lee SH, Richter S, Kersten A, Perrot A, Panek AN, Al Khatib IH, et al: A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects. J Med Genet. 47:230–235. 2010. View Article : Google Scholar :

60 

Liu JJ, Fan LL, Chen JL, Tan ZP and Yang YF: A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect. J Zhejiang Univ Sci B. 15:830–837. 2014. View Article : Google Scholar : PubMed/NCBI

61 

Monroy-Muñoz IE, Pérez-Hernández N, Rodríguez-Pérez JM, Muñoz-Medina JE, Angeles-Martínez J, García-Trejo JJ, Morales-Ríos E, Massó F, Sandoval-Jones JP, Cervantes-Salazar J, et al: Novel mutations in the transcriptional activator domain of the human TBX20 in patients with atrial septal defect. Biomed Res Int. 2015:7187862015. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Zhou YM, Dai XY, Huang RT, Xue S, Xu YJ, Qiu XB and Yang YQ: A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect. Mol Med Rep 14: 3307-3314, 2016.
APA
Zhou, Y., Dai, X., Huang, R., Xue, S., Xu, Y., Qiu, X., & Yang, Y. (2016). A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect. Molecular Medicine Reports, 14, 3307-3314. https://doi.org/10.3892/mmr.2016.5609
MLA
Zhou, Y., Dai, X., Huang, R., Xue, S., Xu, Y., Qiu, X., Yang, Y."A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect". Molecular Medicine Reports 14.4 (2016): 3307-3314.
Chicago
Zhou, Y., Dai, X., Huang, R., Xue, S., Xu, Y., Qiu, X., Yang, Y."A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect". Molecular Medicine Reports 14, no. 4 (2016): 3307-3314. https://doi.org/10.3892/mmr.2016.5609
Copy and paste a formatted citation
x
Spandidos Publications style
Zhou YM, Dai XY, Huang RT, Xue S, Xu YJ, Qiu XB and Yang YQ: A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect. Mol Med Rep 14: 3307-3314, 2016.
APA
Zhou, Y., Dai, X., Huang, R., Xue, S., Xu, Y., Qiu, X., & Yang, Y. (2016). A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect. Molecular Medicine Reports, 14, 3307-3314. https://doi.org/10.3892/mmr.2016.5609
MLA
Zhou, Y., Dai, X., Huang, R., Xue, S., Xu, Y., Qiu, X., Yang, Y."A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect". Molecular Medicine Reports 14.4 (2016): 3307-3314.
Chicago
Zhou, Y., Dai, X., Huang, R., Xue, S., Xu, Y., Qiu, X., Yang, Y."A novel TBX20 loss‑of‑function mutation contributes to adult‑onset dilated cardiomyopathy or congenital atrial septal defect". Molecular Medicine Reports 14, no. 4 (2016): 3307-3314. https://doi.org/10.3892/mmr.2016.5609
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