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
February-2016 Volume 37 Issue 2

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
February-2016 Volume 37 Issue 2

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 HAND2 loss-of-function mutation responsible for tetralogy of Fallot

  • Authors:
    • Cai-Xia Lu
    • Hai-Rong Gong
    • Xing-Yuan Liu
    • Juan Wang
    • Cui-Mei Zhao
    • Ri-Tai Huang
    • Song Xue
    • Yi-Qing Yang
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, Huashan Hospital North, Fudan University, Shanghai 201907, P.R. China, Department of Pediatrics, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P.R. China, Department of Cardiology, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, 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: 445-451
    |
    Published online on: December 15, 2015
       https://doi.org/10.3892/ijmm.2015.2436
  • 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

Congenital heart disease (CHD), the most common type of developmental abnormality, is associated with substantial morbidity and mortality in humans worldwide. The basic helix-loop-helix transcription factor, heart and neural crest derivatives expressed 2 (HAND2), has been demonstrated to be crucial for normal cardiovascular development in animal models. However, whether a genetically defective HAND2 contributes to congenital heart disease (CHD) in humans remains to be explored. In this study, the entire coding region and splicing boundaries of the HAND2 gene were sequenced in a cohort of 145 unrelated patients with CHD. A total of 200 unrelated, ethnically-matched healthy individuals used as controls were also genotyped for HAND2. The functional effect of the mutant HAND2 was characterized in contrast to its wild-type counterpart by using a dual-luciferase reporter assay system. As a result, a novel heterozygous HAND2 mutation, p.L47P, was identified in a patient with tetralogy of Fallot (TOF). The misense mutation, which altered the amino acid conserved evolutionarily among species, was absent in 400 control chromosomes. Functional analyses unveiled that the mutant HAND2 had a significantly decreased transcriptional activity. Furthermore, the mutation markedly reduced the synergistic activation between HAND2 and GATA4 or NKX2.5, other two cardiac key transcription factors involved in the pathogenesis of CHD. To the best of our knowledge, this study is the first to report the association of a HAND2 loss-of-function mutation with an increased vulnerability to TOF in humans, which provides novel insight into the molecular mechanism underpinning CHD, suggesting potential implications for the genetic counseling of families with CHD.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

View References

1 

Fahed AC, Gelb BD, Seidman JG and Seidman CE: Genetics of congenital heart disease: The glass half empty. Circ Res. 112:707–720. 2013. View Article : Google Scholar : PubMed/NCBI

2 

Zheng JY, Tian HT, Zhu ZM, Li B, Han L, Jiang SL, Chen Y, Li DT, He JC, Zhao Z, et al: Prevalence of symptomatic congenital heart disease in Tibetan school children. Am J Cardiol. 112:1468–1470. 2013. View Article : Google Scholar : PubMed/NCBI

3 

Marelli AJ, Ionescu-Ittu R, Mackie AS, Guo L, Dendukuri N and Kaouache M: Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010. Circulation. 130:749–756. 2014. View Article : Google Scholar : PubMed/NCBI

4 

Mozaffarian D, Benjamin EJ, Go AS, Arnett DK, Blaha MJ, Cushman M, de Ferranti S, Després JP, Fullerton HJ, Howard VJ, et al American Heart Association Statistics Committee and Stroke Statistics Subcommittee: Heart disease and stroke statistics–2015 update: A report from the American Heart Association. Circulation. 131:e29–e322. 2015. View Article : Google Scholar

5 

Feltez G, Coronel CC, Pellanda LC and Lukrafka JL: Exercise capacity in children and adolescents with corrected congenital heart disease. Pediatr Cardiol. 36:1075–1082. 2015. View Article : Google Scholar : PubMed/NCBI

6 

Williams IA, Fifer WP and Andrews H: Fetal growth and neuro-developmental outcome in congenital heart disease. Pediatr Cardiol. 36:1135–1144. 2015. View Article : Google Scholar : PubMed/NCBI

7 

Barst RJ, Ivy DD, Foreman AJ, McGoon MD and Rosenzweig EB: Four- and seven-year outcomes of patients with congenital heart disease-associated pulmonary arterial hypertension (from the REVEAL Registry). Am J Cardiol. 113:147–155. 2014. View Article : Google Scholar

8 

Wright LK, Ehrlich A, Stauffer N, Samai C, Kogon B and Oster ME: Relation of prenatal diagnosis with one-year survival rate for infants with congenital heart disease. Am J Cardiol. 113:1041–1044. 2014. View Article : Google Scholar : PubMed/NCBI

9 

Priromprintr B, Rhodes J, Silka MJ and Batra AS: Prevalence of arrhythmias during exercise stress testing in patients with congenital heart disease and severe right ventricular conduit dysfunction. Am J Cardiol. 114:468–472. 2014. View Article : Google Scholar : PubMed/NCBI

10 

Ghosh RM, Gates GJ, Walsh CA, Schiller MS, Pass RH and Ceresnak SR: The prevalence of arrhythmias, predictors for arrhythmias, and safety of exercise stress testing in children. Pediatr Cardiol. 36:584–590. 2015. View Article : Google Scholar

11 

Walsh EP: Sudden death in adult congenital heart disease: Risk stratification in 2014. Heart Rhythm. 11:1735–1742. 2014. View Article : Google Scholar : PubMed/NCBI

12 

Srivastava D and Olson EN: A genetic blueprint for cardiac development. Nature. 407:221–226. 2000. View Article : Google Scholar : PubMed/NCBI

13 

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 :

14 

Wang X, Li P, Chen S, Xi L, Guo Y, Guo A and Sun K: Influence of genes and the environment in familial congenital heart defects. Mol Med Rep. 9:695–700. 2014.

15 

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

16 

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

17 

Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, Hitz MP, Lindsay S, D'Alessandro LC, Swaminathan GJ, Bentham J, Arndt AK, et al: UK10K Consortium, Wilson DI, Mital S and Hurles ME: Rare variants in NR2F2 cause congenital heart defects in humans. Am J Hum Genet. 94:5745–5785. 2014.

18 

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

19 

Werner P, Paluru P, Simpson AM, Latney B, Iyer R, Brodeur GM and Goldmuntz E: Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease. Hum Mutat. 35:1459–1468. 2014. View Article : Google Scholar : PubMed/NCBI

20 

Wei D, Gong XH, Qiu G, Wang J and Yang YQ: Novel PITX2c loss-of-function mutations associated with complex congenital heart disease. Int J Mol Med. 33:1201–1208. 2014.PubMed/NCBI

21 

Cowan J, Tariq M and Ware SM: Genetic and functional analyses of ZIC3 variants in congenital heart disease. Hum Mutat. 35:66–75. 2014. View Article : Google Scholar :

22 

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

23 

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

24 

Racedo SE, McDonald-McGinn DM, Chung JH, Goldmuntz E, Zackai E, Emanuel BS, Zhou B, Funke B and Morrow BE: Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet. 96:235–244. 2015. View Article : Google Scholar : PubMed/NCBI

25 

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

26 

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

27 

Vincentz JW, Barnes RM and Firulli AB: Hand factors as regulators of cardiac morphogenesis and implications for congenital heart defects. Birth Defects Res A Clin Mol Teratol. 91:485–494. 2011. View Article : Google Scholar : PubMed/NCBI

28 

Reamon-Buettner SM, Ciribilli Y, Inga A and Borlak J: A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. Hum Mol Genet. 17:1397–1405. 2008. View Article : Google Scholar : PubMed/NCBI

29 

Reamon-Buettner SM, Ciribilli Y, Traverso I, Kuhls B, Inga A and Borlak J: A functional genetic study identifies HAND1 mutations in septation defects of the human heart. Hum Mol Genet. 18:3567–3578. 2009. View Article : Google Scholar : PubMed/NCBI

30 

Cheng Z, Lib L, Li Z, Liu M, Yan J, Wang B and Ma X: Two novel HAND1 mutations in Chinese patients with ventricular septal defect. Clin Chim Acta. 413:675–677. 2012. View Article : Google Scholar

31 

Thomas T, Yamagishi H, Overbeek PA, Olson EN and Srivastava D: The bHLH factors, dHAND and eHAND, specify pulmonary and systemic cardiac ventricles independent of left-right sidedness. Dev Biol. 196:228–236. 1998. View Article : Google Scholar : PubMed/NCBI

32 

Thattaliyath BD, Livi CB, Steinhelper ME, Toney GM and Firulli AB: HAND1 and HAND2 are expressed in the adult-rodent heart and are modulated during cardiac hypertrophy. Biochem Biophys Res Commun. 297:870–875. 2002. View Article : Google Scholar : PubMed/NCBI

33 

Srivastava D, Cserjesi P and Olson EN: A subclass of bHLH proteins required for cardiac morphogenesis. Science. 270:1995–1999. 1995. View Article : Google Scholar : PubMed/NCBI

34 

Srivastava D, Thomas T, Lin Q, Kirby ML, Brown D and Olson EN: Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND. Nat Genet. 16:154–160. 1997. View Article : Google Scholar : PubMed/NCBI

35 

McFadden DG, Barbosa AC, Richardson JA, Schneider MD, Srivastava D and Olson EN: The Hand1 and Hand2 transcription factors regulate expansion of the embryonic cardiac ventricles in a gene dosage-dependent manner. Development. 132:189–201. 2005. View Article : Google Scholar

36 

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.

37 

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

38 

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.

39 

Starr JP: Tetralogy of fallot: Yesterday and today. World J Surg. 34:658–668. 2010. View Article : Google Scholar : PubMed/NCBI

40 

Russell MW, Kemp P, Wang L, Brody LC and Izumo S: Molecular cloning of the human HAND2 gene. Biochim Biophys Acta. 1443:393–399. 1998. View Article : Google Scholar

41 

Dai YS and Cserjesi P: The basic helix-loop-helix factor, HAND2, functions as a transcriptional activator by binding to E-boxes as a heterodimer. J Biol Chem. 277:12604–12612. 2002. View Article : Google Scholar : PubMed/NCBI

42 

Dai YS, Cserjesi P, Markham BE and Molkentin JD: The transcription factors GATA4 and dHAND physically interact to synergistically activate cardiac gene expression through a p300-dependent mechanism. J Biol Chem. 277:24390–24398. 2002. View Article : Google Scholar : PubMed/NCBI

43 

Thattaliyath BD, Firulli BA and Firulli AB: The basic-helix-loop-helix transcription factor HAND2 directly regulates transcription of the atrial naturetic peptide gene. J Mol Cell Cardiol. 34:1335–1344. 2002. View Article : Google Scholar : PubMed/NCBI

44 

Zang MX, Li Y, Wang H, Wang JB and Jia HT: Cooperative interaction between the basic helix-loop-helix transcription factor dHAND and myocyte enhancer factor 2C regulates myocardial gene expression. J Biol Chem. 279:54258–54263. 2004. View Article : Google Scholar : PubMed/NCBI

45 

Zang MX, Li Y, Xue LX, Jia HT and Jing H: Cooperative activation of atrial naturetic peptide promoter by dHAND and MEF2C. J Cell Biochem. 93:1255–1266. 2004. View Article : Google Scholar : PubMed/NCBI

46 

Yelon D, Ticho B, Halpern ME, Ruvinsky I, Ho RK, Silver LM and Stainier DY: The bHLH transcription factor hand2 plays parallel roles in zebrafish heart and pectoral fin development. Development. 127:2573–2582. 2000.PubMed/NCBI

47 

Garavito-Aguilar ZV, Riley HE and Yelon D: Hand2 ensures an appropriate environment for cardiac fusion by limiting Fibronectin function. Development. 137:3215–3220. 2010. View Article : Google Scholar : PubMed/NCBI

48 

Morikawa Y and Cserjesi P: Cardiac neural crest expression of Hand2 regulates outflow and second heart field development. Circ Res. 103:1422–1429. 2008. View Article : Google Scholar : PubMed/NCBI

49 

Tsuchihashi T, Maeda J, Shin CH, Ivey KN, Black BL, Olson EN, Yamagishi H and Srivastava D: Hand2 function in second heart field progenitors is essential for cardiogenesis. Dev Biol. 351:62–69. 2011. View Article : Google Scholar :

50 

VanDusen NJ, Casanovas J, Vincentz JW, Firulli BA, Osterwalder M, Lopez-Rios J, Zeller R, Zhou B, Grego-Bessa J, De La Pompa JL, et al: Hand2 is an essential regulator for two Notch-dependent functions within the embryonic endocardium. Cell Rep. 9:2071–2083. 2014. View Article : Google Scholar : PubMed/NCBI

51 

Tamura M, Hosoya M, Fujita M, Iida T, Amano T, Maeno A, Kataoka T, Otsuka T, Tanaka S, Tomizawa S, et al: Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q. Hum Mol Genet. 22:2471–2481. 2013. View Article : Google Scholar : PubMed/NCBI

52 

Shen L, Li XF, Shen AD, Wang Q, Liu CX, Guo YJ, Song ZJ and Li ZZ: Transcription factor HAND2 mutations in sporadic Chinese patients with congenital heart disease. Chin Med J (Engl). 123:1623–1627. 2010.

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Lu C, Gong H, Liu X, Wang J, Zhao C, Huang R, Xue S and Yang Y: A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot. Int J Mol Med 37: 445-451, 2016.
APA
Lu, C., Gong, H., Liu, X., Wang, J., Zhao, C., Huang, R. ... Yang, Y. (2016). A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot. International Journal of Molecular Medicine, 37, 445-451. https://doi.org/10.3892/ijmm.2015.2436
MLA
Lu, C., Gong, H., Liu, X., Wang, J., Zhao, C., Huang, R., Xue, S., Yang, Y."A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot". International Journal of Molecular Medicine 37.2 (2016): 445-451.
Chicago
Lu, C., Gong, H., Liu, X., Wang, J., Zhao, C., Huang, R., Xue, S., Yang, Y."A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot". International Journal of Molecular Medicine 37, no. 2 (2016): 445-451. https://doi.org/10.3892/ijmm.2015.2436
Copy and paste a formatted citation
x
Spandidos Publications style
Lu C, Gong H, Liu X, Wang J, Zhao C, Huang R, Xue S and Yang Y: A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot. Int J Mol Med 37: 445-451, 2016.
APA
Lu, C., Gong, H., Liu, X., Wang, J., Zhao, C., Huang, R. ... Yang, Y. (2016). A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot. International Journal of Molecular Medicine, 37, 445-451. https://doi.org/10.3892/ijmm.2015.2436
MLA
Lu, C., Gong, H., Liu, X., Wang, J., Zhao, C., Huang, R., Xue, S., Yang, Y."A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot". International Journal of Molecular Medicine 37.2 (2016): 445-451.
Chicago
Lu, C., Gong, H., Liu, X., Wang, J., Zhao, C., Huang, R., Xue, S., Yang, Y."A novel HAND2 loss-of-function mutation responsible for tetralogy of Fallot". International Journal of Molecular Medicine 37, no. 2 (2016): 445-451. https://doi.org/10.3892/ijmm.2015.2436
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