Development of the diaphragm and genetic mouse models of diaphragmatic defects
Development of the diaphragm and genetic mouse models of diaphragmatic defects
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DOI：
10.1002/ajmg.c.30128
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发表时间：
2007-05-15
影响因子：
3.1
通讯作者：
Greer, John J.
中科院分区：
文献类型：
--
作者：
Ackerman, Kate G.;Greer, John J.
提高我们对胚胎发育的理解对于在确定人类先天性胚胎缺陷的发病机制和遗传病因学方面取得进展至关重要。随着小鼠遗传技术为我们提供了操纵和观察发育的新工具，最近出现了许多小鼠模型，为这一领域提供了有价值的见解。在本文中，我们回顾了我们目前对隔膜胚胎发生的了解，包括隔膜组织的起源。我们使用啮齿类动物模型来审查膈肌的肌肉化和审查选定的遗传模型的异常肌肉化。我们也回顾了后横膈缺损的模型，并讨论了胸膜腹膜襞（PPF）组织对横膈的作用。最后，我们讨论了前疝和中央疝的模型。根据横膈膜的解剖区域对本综述进行细分可能过于简单，因为有证据表明，人类和小鼠横膈膜不同区域的缺陷可能与病因有关。然而，在这个时候，我们没有足够的知识，使更多的机械或遗传分类，虽然随着时间的推移，遗传进展领域的横膈膜的发展将允许我们这样做。(C)2007 Wiley-Liss，Inc.
Improving our understanding of diaphragmatic development is essential to making progress in defining the pathogenesis and genetic etiologies of congenital diaphragmatic defects in humans. As mouse genetic technology has given us new tools to manipulate and observe development, a number of mouse models have recently emerged that provide valuable insight to this field. In this article, we review our current understanding of diaphragmatic embryogenesis including the origin of diaphragmatic tissue. We use rodent models to review the muscularization of the diaphragm and review selected genetic models of abnormal muscularization. We also review models of posterior diaphragmatic defects and discuss evidence for the pleuroperitoneal fold (PPF) tissue contributing to the diaphragm. Finally, we discuss models of anterior and central hernias. It may be simplistic to subdivide this review based on anatomic regions of the diaphragm, as evidence is emerging that defects in different regions of the diaphragm in humans and in mice may be etiologically related. However, at this time we do not have enough knowledge to make more mechanistic or genetic classifications though with time, genetic progress in the field of diaphragm development will allow us to do this. (C) 2007 Wiley-Liss, Inc.