Role of cilia in the pathogenesis of congenital heart disease.
Role of cilia in the pathogenesis of congenital heart disease.
复制标题
纤毛在先天性心脏病发病中的作用。
DOI：
10.1016/j.semcdb.2020.04.017
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发表时间：
2021-03
影响因子：
7.3
通讯作者：
Lo CW
中科院分区：
文献类型：
--
作者：
Gabriel GC;Young CB;Lo CW
纤毛在先天性心脏病（CHD）发病机制中的重要作用已经从一项大规模小鼠正向遗传筛选的发现中显现出来。通过胎儿超声成像和全外显子组测序分析进行高通量筛查，发现纤毛相关基因和纤毛转导细胞信号基因在导致冠心病的突变中占据优势。左-右模式在冠心病发病机制中的扰动是由冠心病与异位的关联提出的，但也通过在出生缺陷登记中发现侧侧缺陷与冠心病共存而提出的。许多纤毛和纤毛细胞信号转导基因被发现与Hedgehog信号转导有关。对小鼠的研究表明，纤毛转导的刺猬信号与心环和心管分化的左-右模式协调。纤毛转导的Shh信号也调节心脏发育的后期事件，包括流出道分隔和房室间隔的形成。最近的研究表明，纤毛相关基因的突变也可能导致瓣膜疾病，这种疾病主要出现在成人生活中。总的来说，这些和其他研究结果表明纤毛在冠心病和更常见的瓣膜疾病中起重要作用。
An essential role for cilia in the pathogenesis of congenital heart disease (CHD) has emerged from findings of a large-scale mouse forward genetic screen. High throughput screening with fetal ultrasound imaging followed by whole exome sequencing analysis recovered a preponderance of cilia related genes and cilia transduced cell signaling genes among mutations identified to cause CHD. The perturbation of left-right patterning in CHD pathogenesis is suggested by the association of CHD with heterotaxy, but also by the finding of the co-occurrence of laterality defects with CHD in birth defect registries. Many of the cilia and cilia cell signaling genes recovered were found to be related to Hedgehog signaling. Studies in mice showed cilia transduced hedgehog signaling coordinates left-right patterning with heart looping and differentiation of the heart tube. Cilia transduced Shh signaling also regulates later events in heart development, including outflow tract septation and formation of the atrioventricular septum. More recent work has shown mutations in cilia related genes may also contribute to valve disease that largely manifest in adult life. Overall, these and other findings show cilia play an important role in CHD and also in more common valve diseases.
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DOI：
10.1038/nrcardio.2015.161
发表时间：
2015-12
期刊：
Nature reviews. Cardiology
影响因子：
--
作者：
Levine RA;Hagége AA;Judge DP;Padala M;Dal-Bianco JP;Aikawa E;Beaudoin J;Bischoff J;Bouatia-Naji N;Bruneval P;Butcher JT;Carpentier A;Chaput M;Chester AH;Clusel C;Delling FN;Dietz HC;Dina C;Durst R;Fernandez-Friera L;Handschumacher MD;Jensen MO;Jeunemaitre XP;Le Marec H;Le Tourneau T;Markwald RR;Mérot J;Messas E;Milan DP;Neri T;Norris RA;Peal D;Perrocheau M;Probst V;Pucéat M;Rosenthal N;Solis J;Schott JJ;Schwammenthal E;Slaugenhaupt SA;Song JK;Yacoub MH;Leducq Mitral Transatlantic Network
通讯作者：
Leducq Mitral Transatlantic Network
影响因子：
64.8
作者：
Durst R;Sauls K;Peal DS;deVlaming A;Toomer K;Leyne M;Salani M;Talkowski ME;Brand H;Perrocheau M;Simpson C;Jett C;Stone MR;Charles F;Chiang C;Lynch SN;Bouatia-Naji N;Delling FN;Freed LA;Tribouilloy C;Le Tourneau T;LeMarec H;Fernandez-Friera L;Solis J;Trujillano D;Ossowski S;Estivill X;Dina C;Bruneval P;Chester A;Schott JJ;Irvine KD;Mao Y;Wessels A;Motiwala T;Puceat M;Tsukasaki Y;Menick DR;Kasiganesan H;Nie X;Broome AM;Williams K;Johnson A;Markwald RR;Jeunemaitre X;Hagege A;Levine RA;Milan DJ;Norris RA;Slaugenhaupt SA
通讯作者：
Slaugenhaupt SA
影响因子：
20.1
作者：
Egorova AD;Khedoe PP;Goumans MJ;Yoder BK;Nauli SM;ten Dijke P;Poelmann RE;Hierck BP
通讯作者：
Hierck BP
影响因子：
4.6
作者：
Goddeeris, Matthew M.;Rho, Silvia;Klingensmith, John
通讯作者：
Klingensmith, John
DOI：
10.1016/j.bbrc.2016.04.036
发表时间：
2016-05-13
影响因子：
3.1
作者：
Dau, Cecile;Fliegauf, Manfred;Braun, Gerald S.
通讯作者：
Braun, Gerald S.