Genetic and Developmental Basis of Cardiovascular Malformations.
Genetic and Developmental Basis of Cardiovascular Malformations.
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DOI：
10.1016/j.clp.2015.11.002
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发表时间：
2016-03
影响因子：
2.1
通讯作者：
Ware SM
中科院分区：
文献类型：
--
作者：
Azhar M;Ware SM
心血管畸形（CVM）是最常见的出生缺陷，发生在所有活产婴儿的1-5%。遗传、表观遗传和环境因素都会影响CVM的发展，提高对CVM病因的认识是预防的先决条件。心脏发育是一个复杂的、多步骤的形态发生过程，受基因调控。多种发育途径独立或联合作用以影响适当的心脏谱系特化、分化和结构。由于这种复杂性，有许多潜在的机制，遗传变异可以影响胎儿心脏发育和潜在的心脏病。虽然遗传因素对脑血管畸形的影响已得到公认，但人类脑血管畸形的遗传原因仍相对较少被发现。小鼠模型是研究支持心脏发育的分子机制以及表征人类CVM的复杂遗传学的重要工具。在这篇综述中，我们提供了一个概述的关键遗传概念表征人类脑血管畸形，审查其发展的基础上，并提供例子来说明关键的发展和遗传概念的发病机制的脑血管畸形。
Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1–5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of causation of CVMs is a prerequisite for prevention. Cardiac development is a complex, multi-step process of morphogenesis that is under genetic regulation. Multiple developmental pathways act independently or in combination to effect proper cardiac lineage specification, differentiation, and structure. Because of this complexity, there are numerous potential mechanisms by which genetic variation can impact both fetal cardiac development and latent cardiac disease. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are still identified relatively infrequently. Mouse models are important tools to investigate the molecular mechanisms underpinning cardiac development as well as the complex genetics that characterize human CVMs. In this review we provide an overview of the key genetic concepts characterizing human CVMs, review their developmental basis, and provide examples to illustrate the critical developmental and genetic concepts underlying the pathogenesis of CVMs.
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影响因子：
5.1
作者：
Landis, Benjamin J.;Ware, Stephanie M.;Hinton, Robert B.
通讯作者：
Hinton, Robert B.
影响因子：
2.5
作者：
Azhar, Mohamad;Brown, Kristen;Gard, Connie;Chen, Hwudaurw;Rajan, Sudarsan;Elliott, David A.;Stevens, Mark V.;Camenisch, Todd D.;Conway, Simon J.;Doetschman, Thomas
通讯作者：
Doetschman, Thomas
影响因子：
20.1
作者：
Kathiriya IS;Nora EP;Bruneau BG
通讯作者：
Bruneau BG
影响因子：
15.9
作者：
Jain, Rajan;Engleka, Kurt A.;Epstein, Jonathan A.
通讯作者：
Epstein, Jonathan A.
影响因子：
5
作者：
Gago-Diaz, Marina;Blanco-Verea, Alejandro;Brion, Maria
通讯作者：
Brion, Maria