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1. Association Analyses of TBX5 Gene Polymorphisms with Congenital Heart Disease in Tibetan Population of China | |||
Zhaobing Su,Qiuhong Chen,Shinan Wu,Xi Wang,Hong Pan,Jianmin Xiao,Jing Wang | |||
Basic Medicine 19 January 2017 | |||
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Abstract:Objective: TBX5 gene is a member of T-box transcriptional factors that mainly expressed in cardiovascular system and play a significant role in the development of embryonic cardiovascular. The aim of this study is to investigate the association of TBX5 gene polymorphisms with the risk of congenital heart disease (CHD) in the Tibetan population in China. Methods: One hundred and twenty Chinese Tibetan patients with CHD as well as one hundred and twelve matched healthy controls were recruited for this study. And the tagging SNPs were genotyped using Illumina GoldenGate chips. Potential association was evaluated with the chi-square (Χ2) test. Results: The selected tagging SNPs were well genotyped and we found significant differences in allele frequencies and genotype distributions of rs55646156 as well as rs4533090 between CHD patients and controls. The AA genotype of rs55656156 may be am increased risk factor of CHD, while the TT genotype of rs4533090 might be the protective factor against CHD development in Chinese Tibetan population. Conclusions: We have firstly established the association between the tagging SNPs of TBX5 and CHD in the Tibetan population of China in the present study. | |||
TO cite this article:Zhaobing Su,Qiuhong Chen,Shinan Wu, et al. Association Analyses of TBX5 Gene Polymorphisms with Congenital Heart Disease in Tibetan Population of China[OL].[19 January 2017] http://en.paper.edu.cn/en_releasepaper/content/4717734 |
2. Mutations in Growth Differentiation Factor 1 (GDF1) are Associated with Ventricular Septal Defect in a Chinese Population | |||
Wang Jing,Bai Tingting,Yan Jinting,Wang Binbin,Liu Shiming,Chen Qiuhong,Xie Xiaodong,Wang Xi,Wu Shinan,Zhang Wei,Pan Hong | |||
Basic Medicine 18 August 2016 | |||
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Abstract:Ventricular septal defect (VSD) is the largest subtype of congenital heart defect (CHD). Previous studies have suggested that mutations of growth/differentiation factor 1 (GDF1) contribute to CHD. This study explored the role of GDF1 in the etiology of VSD. A total of 312 VSD Chinese patients and 250 healthy controls were screened for mutations in the GDF1 gene. Compared with the controls and the public database, one 25-bp deletion (truncation mutation), five point non-synonymous mutations (two located in the protein coding region), and one variant in the 5′-UTR were found in 312 VSD Chinese patients. The dual luciferase assays showed that the c.-47G>C mutation in the 5′-UTR affected the capacity of GDF1 promoter to activate transcription. In the meanwhile, the p.A266T and p.P312T mutations in the mature peptide region repressed the activation of the CAGA-Luc reporter which was the responsive reporter of TGFβ signaling pathway. Our study provides important evidence that GDF1 gene mutations might be associated with VSD. | |||
TO cite this article:Wang Jing,Bai Tingting,Yan Jinting, et al. Mutations in Growth Differentiation Factor 1 (GDF1) are Associated with Ventricular Septal Defect in a Chinese Population[OL].[18 August 2016] http://en.paper.edu.cn/en_releasepaper/content/4701172 |
3. Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families | |||
HU Lingling,SHANG Xuan,YI Sheng,CAI Ren,LI Zhetao,LIU Cuixian,LIANG Yidan,CAI Decheng,ZHANG Feng,Xu Xiangmin | |||
Basic Medicine 29 May 2016 | |||
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Abstract:The human α-globin gene cluster lies close to the telomere of the short arm on chromosome 16. Copy number variations (CNVs) of this region produce excessive or insufficient α-globin chains which imbalances the β-globin chains, resulting in thalassemia. However, these CNVs usually cannot be precisely defined by traditional methods. Here, we designed a technique strategy and applied it to identify two CNVs involving the α-globin gene cluster causing thalassemia in two Chinese families. A novel 282kb duplication (αααα282) was identified in family A and a novel 235kb deletion (--235) in family B. Proband A is a coinheritance of βCD41-42 and αααα282 and showed severe β-thalassemia intermedia phenotype. Proband B is a compound heterozygote of --235/αCSα genotype and was diagnosed with hemoglobin H disease. The clinical phenotypic features of the CNVs carriers were described, together with a complete picture of molecular structure of these rearrangements. Two CNVs are novel rearrangements in α-globin clusters and the αααα282 is the first to identify the exact insert position of a duplication region from the telomere on chromosome 16. The identification and characterization of these two novel CNVs demonstrates the precision and effectiveness of our strategy in analyzing the structure of unknown CNVs. | |||
TO cite this article:HU Lingling,SHANG Xuan,YI Sheng, et al. Two novel copy number variations involving the α-globin gene cluster on chromosome 16 cause thalassemia in two Chinese families[OL].[29 May 2016] http://en.paper.edu.cn/en_releasepaper/content/4691436 |
4. Association study of 8 moderate penetrance gene variants with breast cancer in Chinese population | |||
CHEN Jun,YANG Xuexi | |||
Basic Medicine 17 February 2014 | |||
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Abstract:In this paper, 8 tag SNP markers (rs1800054 in ATM, rs180177102 and rs180177132 in PALB2, CHEK2 1100 delC, CHEK2 IVS2+1G>A, RAD50, rs1801320 in RAD51, rs6138178 in SNRPB), which all belonged to moderate penetrance genes, were detected via Sequenom MassArray? iPLEX System in 487 breast cancer patients and 522 healthy controls. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratified analyses according to geographical region and the status of Estrogen Receptor (ER) and Progesterone Receptor (PR), were also performed. Among these 8 SNPs, 6 variants (rs1800054, rs180177102, rs180177132, CHEK21100DELC, CHEK2IVS2+1G>A, RAD50) were not polymorphisms at all. The remaining 2 variants (rs1801320 and rs6138178) did not show statistically significant differences between the case and control groups in this Han Chinese population. However, rs1801320, a variant of RAD51, shows significant association with the risk of breast cancer in Shandong population. In addition to this, rs1801320 was association with both ER-positive and PR-positive breast cancer. Meanwhile, rs6138178 on SNRPB increased the risk of breast cancer in Guangdong population, however, decreased in Shandong population. These results indicate although no breast cancer risk alleles in moderate penetrance susceptibility gene were found in present population, rs1801320 in RAD51 and rs6138178 on SNRPB are significant association with breast cancer risk in specific region. | |||
TO cite this article:CHEN Jun,YANG Xuexi. Association study of 8 moderate penetrance gene variants with breast cancer in Chinese population[OL].[17 February 2014] http://en.paper.edu.cn/en_releasepaper/content/4585536 |
5. Polymorphisms in estrogen receptor 1 are associated with the susceptibility of breast cancer and the status of ER, PR in Chinese Han population | |||
YANG Xuexi,LI Xin,QIU Yurong | |||
Basic Medicine 15 February 2014 | |||
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Abstract:Estrogen receptor has been demonstrated as an enhancer in the development of breast cancer and its expression is related to endocrine therapy of breast cancer. Three variants (rs3757318, rs2046210 and rs3734805) in ESR1 which selected from previous GWAS studies were genotyped via Sequenom MassArray? iPLEX System in 845 breast cancer patients and 882 healthy controls. Association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratified analyses according to the status of Estrogen Receptor (ER) and Progesterone Receptor (PR), were also performed. Of three SNPs, rs3735318 did not pass HWE test, so exclude from the followed analysis. Other two SNPs (rs2046210, rs37324085) strongly associated with susceptibility of breast cancer. Allele T of rs2046210 and Allele C of rs373485 were risk alleles and the adjusted odds rations for them were 1.36 (95% CI: 1.18-1.56, P<0.0001) and 1.32 (95%CI: 1.14-1.53, P<0.0001). Furthermore, the risk allele of rs2046210 was prone to negative than positive in ER and PR immunohsitochemical test, OR of 0.602 (95% CI: 0.384-0.944, P=0.027) and 0.532 (95% CI: 0.609-0.930, P=0.006), respectively. Our study data imply that rs2046210 and rs373485 could be risk markers of breast cancer in Chinese women. Besides, women with breast cancer carried risk allele of rs2046210 may be not suitable for endocrine therapy and have pooper prognosis due to the high probability of ER/PR-negative. | |||
TO cite this article:YANG Xuexi,LI Xin,QIU Yurong. Polymorphisms in estrogen receptor 1 are associated with the susceptibility of breast cancer and the status of ER, PR in Chinese Han population[OL].[15 February 2014] http://en.paper.edu.cn/en_releasepaper/content/4585620 |
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