Sequence variations of NKX2-5 and HAND1 genes in patients with atrial isomerism

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Hatemi A. C., Gulec C., Cine N., Vural B., Hatirnaz O., Sayitoglu M., ...More

ANATOLIAN JOURNAL OF CARDIOLOGY, vol.11, no.4, pp.319-328, 2011 (SCI-Expanded, Scopus, TRDizin) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11 Issue: 4
  • Publication Date: 2011
  • Doi Number: 10.5152/akd.2011.083
  • Journal Name: ANATOLIAN JOURNAL OF CARDIOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.319-328
  • Open Archive Collection: AVESIS Open Access Collection
  • Istanbul University-Cerrahpasa Affiliated: Yes

Abstract

Objective: Atrial isomerism is a congenital disorder, which is characterized by lateralization defects in normally asymmetrical developing organs like the heart. Atrial isomerism is supposed to be caused by molecular defects during early development. The NKX2-5 is a cardiac specific transcription factor, which initiates and regulates downstream transcriptional cascades of cardiogenesis. The HAND1 is another transcription factor expressed in the heart, and it is characterized by an asymmetrical pattern of expression. In this study, we aimed to test whether mutations in NKX2-5 and HAND1 genes play a role in the etiology of atrial isomerism.