国际儿科学杂志
國際兒科學雜誌
국제인과학잡지
INTERNATIONAL JOURNAL OF PEDIATRICS
2014年
1期
29-32
,共4页
视黄酸受体%转化生长因子%TBX1基因%信号通路%圆锥动脉干畸形
視黃痠受體%轉化生長因子%TBX1基因%信號通路%圓錐動脈榦畸形
시황산수체%전화생장인자%TBX1기인%신호통로%원추동맥간기형
Retinoic acid receptor%Transforming growth factor%Gene TBX1%Signaling pathway%Conotruncal heart defect
心脏圆锥动脉干畸形是一类常见的、严重威胁新生儿和婴幼儿生命健康的先天性心血管疾病.研究证实TBX1基因参与了部分圆锥动脉干畸形的形成.近年研究发现,视黄酸(retinoic acid,RA)信号通路在圆锥动脉干畸形发生过程中起重要作用.进一步研究发现,在RA受体基因突变小鼠模型中,转化生长因子β2的差异性表达与圆锥动脉干畸形临床表型的多态性密切相关,但其具体机制尚不清楚.该文主要探讨TBX1-RA信号通路及转化生长因子β2-RA信号通路与圆锥动脉干畸形之间的关系研究进展.
心髒圓錐動脈榦畸形是一類常見的、嚴重威脅新生兒和嬰幼兒生命健康的先天性心血管疾病.研究證實TBX1基因參與瞭部分圓錐動脈榦畸形的形成.近年研究髮現,視黃痠(retinoic acid,RA)信號通路在圓錐動脈榦畸形髮生過程中起重要作用.進一步研究髮現,在RA受體基因突變小鼠模型中,轉化生長因子β2的差異性錶達與圓錐動脈榦畸形臨床錶型的多態性密切相關,但其具體機製尚不清楚.該文主要探討TBX1-RA信號通路及轉化生長因子β2-RA信號通路與圓錐動脈榦畸形之間的關繫研究進展.
심장원추동맥간기형시일류상견적、엄중위협신생인화영유인생명건강적선천성심혈관질병.연구증실TBX1기인삼여료부분원추동맥간기형적형성.근년연구발현,시황산(retinoic acid,RA)신호통로재원추동맥간기형발생과정중기중요작용.진일보연구발현,재RA수체기인돌변소서모형중,전화생장인자β2적차이성표체여원추동맥간기형림상표형적다태성밀절상관,단기구체궤제상불청초.해문주요탐토TBX1-RA신호통로급전화생장인자β2-RA신호통로여원추동맥간기형지간적관계연구진전.
Congenital conotruncal heart defects (CHD),including tetralogy of Fallot (TOF),double outlet of right ventricle(DORV),transposition of the great arteries(TGA),persistent truncus arteriosus (PTA),is a variety of common and serious congenital cardiovascular diseases which are threatenting to the health of neonates and infants.Previous studies have demostrated that TBX1 contricuted to some of the CHD.Recent studies have also confirmed that retinoic acid signaling pathway plays a curcial role of development of CHD.Further studies have also found that TGF-β2 differential expression is closely related with phenotypic polymorphism of conotruncal heart defects in retinoic acid receptor mutant mice,of which the mechanism is not yet clear.This paper provides an overview of the relationship between TBX1-RA signaling pathway and congenital conotruncal heart defects and TGF-β2-RA and CHD during the development of CHD.
