An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease.
An interspecies heart-to-heart: Using Xenopus to uncover the genetic basis of congenital heart disease.
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DOI：
10.1007/s40139-017-0142-x
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发表时间：
2017-06
影响因子：
--
通讯作者：
Khokha MK
中科院分区：
文献类型：
--
作者：
Garfinkel AM;Khokha MK
鉴于先天性心脏病对儿童健康的巨大影响，我们必须提高对患者表型和临床结果背后的疾病机制的理解。这篇综述将概述使用青蛙模型爪蟾作为研究人类心脏发育和与先天性心脏病相关的左右模式机制的工具的优点。患者驱动的基因发现继续为先天性心脏病的机制以及患者的表型和结果提供新的见解。通过识别先心病患者的基因变异，非洲爪蟾的研究阐明了这些候选基因如何影响心脏发育的分子机制，包括心脏发生和左右模式，这对心脏形态发生有重大影响。非洲爪蟾也被证明是一种有用的筛选工具，可用于筛选已识别的患者突变的生物学相关性，并且正在进行的研究继续阐明疾病机制。对模型生物体的分析有助于阐明 CHD 患者表型的疾病机制。使用非洲爪蟾解开众所周知的和新的疾病基因的基因型-表型关系可以提高医生有效治疗患者和预测临床结果的能力，最终提高先天性心脏病患者的生活质量和生存率。
Given the enormous impact congenital heart disease has on child health, it is imperative that we improve our understanding of the disease mechanisms that underlie patient phenotypes and clinical outcomes. This review will outline the merits of using the frog model, Xenopus, as a tool to study human cardiac development and left-right patterning mechanisms associated with congenital heart disease. Patient-driven gene discovery continues to provide new insight into the mechanisms of congenital heart disease, and by extension, patient phenotypes and outcomes. By identifying gene variants in CHD patients, studies in Xenopus have elucidated the molecular mechanisms of how these candidate genes affect cardiac development, both cardiogenesis as well as left-right patterning, which can have a major impact on cardiac morphogenesis. Xenopus has also proved to be a useful screening tool for the biological relevance of identified patient-mutations, and ongoing investigations continue to illuminate disease mechanisms. Analyses in model organisms can help to elucidate the disease mechanisms underlying CHD patient phenotypes. Using Xenopus to disentangle the genotype-phenotype relationships of well-known and novel disease genes could enhance the ability of physicians to efficaciously treat patients and predict clinical outcomes, ultimately improving quality of life and survival rates of patients born with congenital heart disease.
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影响因子：
1.5
作者：
Blitz, Ira L.;Biesinger, Jacob;Xie, Xiaohui;Cho, Ken W. Y.
通讯作者：
Cho, Ken W. Y.
影响因子：
2.5
作者：
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Scambler, PJ
影响因子：
64.8
作者：
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通讯作者：
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影响因子：
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作者：
GARCIAMARTINEZ, V;SCHOENWOLF, GC
通讯作者：
SCHOENWOLF, GC
影响因子：
158.5
作者：
BASSON, CT;COWLEY, GS;SEIDMAN, CE
通讯作者：
SEIDMAN, CE