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[改变先天性心脏病的范式:从解剖学到分子病因学]

[Changing the paradigm of congenital heart disease: from the anatomy to the molecular etiology].

作者信息

Monroy-Muñoz Irma Eloísa, Pérez-Hernández Nonanzit, Vargas-Alarcón Gilberto, Ortiz-San Juan Guillermo, Buendía-Hernández Alfonso, Calderón-Colmenero Juan, Ramírez-Marroquín Samuel, Cervantes-Salazar Jorge Luis, Curi-Curi Pedro, Martínez-Rodríguez Nancy, Rodríguez Pérez José Manuel

机构信息

Departamento de Biología Molecular, Instituto Nacional de Cardiología Ignacio Chávez, México, D.F.

出版信息

Gac Med Mex. 2013 Mar-Apr;149(2):212-9.

Abstract

Heart development consists in a group of complex and specific morfogenetic interactions, that requires the proper activity of each factor implicated in this process. Congenital heart defects (CHD) are a group of multifactorial complex diseases with environmental and genetic factors playing important roles. There is not an exact relation between molecular mechanisms and morphological defects in CHD, because in most of the cases the proper development of an anatomical structure implies the adequate function of several pathways that may depend of the action of different genes. This review summarizes the genetic factors implied in the normal heart development and the most common gene mutations associated with CHD.

摘要

心脏发育包括一组复杂而特定的形态发生相互作用,这需要参与该过程的每个因素都具有适当的活性。先天性心脏病(CHD)是一组多因素复杂疾病,环境和遗传因素起着重要作用。在CHD中,分子机制与形态学缺陷之间没有确切的关联,因为在大多数情况下,解剖结构的正常发育意味着可能依赖于不同基因作用的几种途径的充分功能。本综述总结了正常心脏发育中涉及的遗传因素以及与CHD相关的最常见基因突变。

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