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	1. LMNA Gene Single nucleotide polymorphisms in Dilated Cardiomyopathy of Han Race Children
	XIE Lijian,HUANG Min,YUAN Yingdi
	Clinical Medicine 10 January 2013
	Show/Hide Abstract \| Cite this paper︱Full-text: PDF (0 B)

	Abstract:Objective To investigate whether LMNA gene mutation is associated with dilated cardiomyopathy (DCM) in Chinese Han Race children. Methods DNA was isolated from 78 patients with DCM and 100 healthy Chinese children who served as controls. 12 exons in the functional regions and the adjacent part of introns of the LMNA gene were amplified with polymerase chain reactions (PCR) and the PCR products were sequenced with DNA sequencer. We compared the DNA sequence with Blast software online Pubmed website. The differences of allele and genotype between the groups were detected byχ2 test. Results No disease-causing mutation in LMNA gene was found in all DCM patients. Three nonsense single nucleotide polymorphisms (SNPs) were identified. ①The first is c.1908C>T (H566H, rs4641) which was located at exon 10 of LMNA gene. It was found in 29 DCM cases and 15 control subjects. Compared to healthy controls, the frequency of TT and TC genotypes, and the C allele were significantly increased in DCM patients (P<0.05). ②The second was c.861C>T (A287A, rs5380) which was located at exon 5 of LMNA gene. It was found in 9 DCM cases and 2 control subjects. The frequency of TC genotype was significantly increased in DCM patients (P<0.05). ③The third was c.1338C>T（D446D, rs5058）which located at exon 7 of LMNA gene. It was found in 8 DCM cases and 3 control subjects. The frequency of TC genotype was significantly increased in DCM patients (P<0.05). Conclusion The SNP of LMNA gene may be associated with the susceptivity of DCM in Chinese Han children.
	TO cite this article:XIE Lijian,HUANG Min,YUAN Yingdi. LMNA Gene Single nucleotide polymorphisms in Dilated Cardiomyopathy of Han Race Children[OL].[10 January 2013] http://en.paper.edu.cn/en_releasepaper/content/4513604


	2. Effect of Tbx1 knock down on cardiac performance in zebrafish
	Zhanglifeng,Yuexiang Wang,Jiang qiu,Song Hou-yan,GUI Yonghao
	Clinical Medicine 09 February 2012
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	Abstract:In this paper, myocardial performance was explored in Tbx1 morpholino injected zebrafish embryos. In this study, Tbx1 specific morpholino was used to reduce the function of Tbx1 in zebrafish. The differentiation of the myocardial cells was observed using whole mount in situ hybridization. Heart rates were observed and recorded under the microscope from 24 to 72 hours post fertilization (hpf). The cardiac performance was analyzed by measuring ventricular shortening fraction and atrial shortening fraction. Tbx1 morpholino injected embryos were characterized by defects in the pharyngeal arches, otic vesicle, aortic arches and thymus. In addition, Tbx1 knock down reduced the amount of pharyngeal neural crest cells in zebrafish. Abnormal cardiac morphology was visible in nearly 20% of the Tbx1 morpholino injected embryos. The hearts in these embryos did not loop or loop incompletely. Importantly, cardiac performance and heart rate were reduced in Tbx1 morpholino injected embryos. Tbx1 might play an essential role in the development of pharyngeal neural crest cells in zebrafish. Cardiac performance is impaired by Tbx1 knock down in zebrafish.
	TO cite this article:Zhanglifeng,Yuexiang Wang,Jiang qiu, et al. Effect of Tbx1 knock down on cardiac performance in zebrafish[OL].[ 9 February 2012] http://en.paper.edu.cn/en_releasepaper/content/4464207

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