pubmed-article:19586889 | rdf:type | pubmed:Citation | lld:pubmed |
pubmed-article:19586889 | lifeskim:mentions | umls-concept:C0152021 | lld:lifeskim |
pubmed-article:19586889 | lifeskim:mentions | umls-concept:C0205161 | lld:lifeskim |
pubmed-article:19586889 | lifeskim:mentions | umls-concept:C0017262 | lld:lifeskim |
pubmed-article:19586889 | lifeskim:mentions | umls-concept:C1420615 | lld:lifeskim |
pubmed-article:19586889 | lifeskim:mentions | umls-concept:C0205352 | lld:lifeskim |
pubmed-article:19586889 | lifeskim:mentions | umls-concept:C0441712 | lld:lifeskim |
pubmed-article:19586889 | lifeskim:mentions | umls-concept:C2911684 | lld:lifeskim |
pubmed-article:19586889 | lifeskim:mentions | umls-concept:C0185117 | lld:lifeskim |
pubmed-article:19586889 | pubmed:issue | 4 | lld:pubmed |
pubmed-article:19586889 | pubmed:dateCreated | 2009-7-9 | lld:pubmed |
pubmed-article:19586889 | pubmed:abstractText | To explore the mechanism of TBX5 abnormal expression in simple congenital heart disease (CHD), 100 CHD venous blood, 50 CHD heart tissues, and 5 non-CHD heart tissues were involved in this study. The mutation and methylation in the 1 200 bp region upstream of TBX5 gene were detected by high-performance liquid chromatography (DHPLC) and methylation-sensitive restriction endonuclease (MS-RE), respectively. The binding site of NKX2-5 to Tbx5 predicted by P-MATCH software was validated by EMSA (Electrophoretic mobility shift assay). Tbx5 gene expression in mouse cardiac muscle cell H9C2(2-1) transfected with NKX2-5 expression vector was evaluated. No mutation was found in all patients. Both non-CHD and CHD heart tissues had the same methylation in the two CpG islands. Exogenous Nkx2-5 efficiently activated the transcription of the endogenous Tbx5 gene in H9C2 (2-1) cells. EMSA showed that the special binding band appeared when Nkx2-5 existed. These results indicates that the down expression of TBX5 might not be caused by mutation and methylation in the 1 200 bp region upstream of gene, and might be regulated by abnormal expression of NKX2-5 gene in heart muscle of CHD. | lld:pubmed |
pubmed-article:19586889 | pubmed:language | chi | lld:pubmed |
pubmed-article:19586889 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19586889 | pubmed:citationSubset | IM | lld:pubmed |
pubmed-article:19586889 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19586889 | pubmed:chemical | http://linkedlifedata.com/r... | lld:pubmed |
pubmed-article:19586889 | pubmed:status | MEDLINE | lld:pubmed |
pubmed-article:19586889 | pubmed:month | Apr | lld:pubmed |
pubmed-article:19586889 | pubmed:issn | 0253-9772 | lld:pubmed |
pubmed-article:19586889 | pubmed:author | pubmed-author:ZicZZ | lld:pubmed |
pubmed-article:19586889 | pubmed:author | pubmed-author:SunKai-LaiKL | lld:pubmed |
pubmed-article:19586889 | pubmed:author | pubmed-author:GongLi-GuoLG | lld:pubmed |
pubmed-article:19586889 | pubmed:author | pubmed-author:XuXiao-YanXY | lld:pubmed |
pubmed-article:19586889 | pubmed:author | pubmed-author:QiuGuang-Rong... | lld:pubmed |
pubmed-article:19586889 | pubmed:issnType | Print | lld:pubmed |
pubmed-article:19586889 | pubmed:volume | 31 | lld:pubmed |
pubmed-article:19586889 | pubmed:owner | NLM | lld:pubmed |
pubmed-article:19586889 | pubmed:authorsComplete | Y | lld:pubmed |
pubmed-article:19586889 | pubmed:pagination | 374-80 | lld:pubmed |
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pubmed-article:19586889 | pubmed:year | 2009 | lld:pubmed |
pubmed-article:19586889 | pubmed:articleTitle | [The mechanism of TBX5 abnormal expression in simple congenital heart disease]. | lld:pubmed |
pubmed-article:19586889 | pubmed:affiliation | Department of Medical Genetics, China Medical University, Shenyang 110001, China. znnadi@163.com | lld:pubmed |
pubmed-article:19586889 | pubmed:publicationType | Journal Article | lld:pubmed |
pubmed-article:19586889 | pubmed:publicationType | English Abstract | lld:pubmed |
entrez-gene:6910 | entrezgene:pubmed | pubmed-article:19586889 | lld:entrezgene |
http://linkedlifedata.com/r... | entrezgene:pubmed | pubmed-article:19586889 | lld:entrezgene |