期刊文献+
共找到2篇文章
< 1 >
每页显示 20 50 100
KCNH2基因变异致2型长QT综合征一个家系的临床及遗传学分析
1
作者 杨海涛 孙猛 +5 位作者 刘静静 陈晓胜 徐锡峥 胡娟 严丽洁 吴金涛 《中华医学遗传学杂志》 CAS CSCD 2024年第10期1218-1224,共7页
目的探讨1个2型长QT综合征(LQTS)家系的临床与遗传学病因。方法选取2019年8月23日就诊于阜外华中心血管病医院的1个2型LQTS家系为研究对象。采集先证者及其父母的外周血样并提取基因组DNA,对先证者进行全外显子组测序(WES),通过功能注释... 目的探讨1个2型长QT综合征(LQTS)家系的临床与遗传学病因。方法选取2019年8月23日就诊于阜外华中心血管病医院的1个2型LQTS家系为研究对象。采集先证者及其父母的外周血样并提取基因组DNA,对先证者进行全外显子组测序(WES),通过功能注释与PPI分析筛选候选变异。针对候选变异进行Sanger测序验证与致病性分析。本研究通过阜外华中心血管病医院医学伦理委员会的审查(伦理号:2019-15)。结果WES检测结果显示先证者携带KCNH2基因c.1478A>G(p.Tyr493Cys)错义变异,经Sanger测序验证该变异遗传自其父亲。根据美国医学遗传学与基因组学学会(ACMG)相关指南,该变异被判定为可能致病性(PM2_supporting+PM5+PP3+PP4)。结论KCNH2基因c.1478A>G(p.Tyr493Cys)变异可能是上述家系患2型LQTS的遗传学病因。 展开更多
关键词 2型长QT综合征 全外显子组测序 kcnh2基因 膜电位调节
原文传递
KCNH2 regulates the growth and metastasis of pancreatic cancer
2
作者 Jinghao Lei Qiang Wang +10 位作者 Tengfei Qu Lichao Cha Hanxiang Zhan Jianwei Xu Shanglong Liu Lantian Tian Chuandong Sun Jingyu Cao Fabo Qiu Weidong Guo Bin Zhou 《Journal of Pancreatology》 2023年第3期101-109,共9页
Objective:Due to the characteristics of insidious onset and early metastasis of pancreatic cancer(PC),patients are often diag-nosed at an advanced stage and often delayed in completing surgical resection timely,result... Objective:Due to the characteristics of insidious onset and early metastasis of pancreatic cancer(PC),patients are often diag-nosed at an advanced stage and often delayed in completing surgical resection timely,resulting in poor prognosis.Therefore,this study aims to explore the expression of potassium voltage-gated channel subfamily H member 2(KCNH2)in PC and its relation-ship with clinicopathological parameters and the related mechanisms.Methods:GEPIA database and immunohistochemical staining were used to analyze the difference in KCNH2 expression be-tween PC and adjacent tissue in RNA and protein levels.Chi-squared test was used to evaluate the relationship between KCNH2 expression and clinicopathological features.The Cox regression model was used for multivariate analysis and univariate analysis.Histological diagnosis was performed according to World Health Organization(WHO)criteria to evaluate the relationship between KCNH2 expression and clinicopathological features.Results:KCNH2 expression was upregulated in PC compared with normal pancreatic tissue.In addition,the knockdown of KCNH2 inhibits PC cell proliferation,migration,invasion,and epithelial-mesenchymal transformation and promotes their apopto-sis.In addition,clinical data showed that the abnormal expression of KCNH2 in PC was related to the tumor stage.Patients with high expression of KCNH2 had a poor prognosis.Conclusions:KCNH2 is expected to be a novel targeted molecule in treating PC. 展开更多
关键词 Epithelial-mesenchymal transition METASTASIS Pancreatic cancer Potassium voltage-gated channel subfamily H member 2(kcnh2) Proliferation
原文传递
上一页 1 下一页 到第
使用帮助 返回顶部