The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
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DOI：
10.1016/j.gde.2009.04.001
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发表时间：
2009-06
影响因子：
4
通讯作者：
Rauen, Katherine A.
中科院分区：
文献类型：
--
作者：
Tidyman, William E.;Rauen, Katherine A.
Ras/MAPK通路在调节细胞周期、分化、生长和细胞衰老过程中起着至关重要的作用，所有这些都是细胞正常发育的关键。因此，其监管失调对发展产生深远影响也就不足为奇了。一类发育障碍，即“Rasopathies”，是由编码RAS/MAPK途径蛋白成分的基因的胚系突变引起的。这些突变中的绝大多数会导致RAS/MAPK途径下的信号转导增加，但通常程度低于与肿瘤发生相关的体细胞突变。然而，每个综合征都表现出独特的表型特征，因为它们都会导致RAS/MAPK通路的失调，所以这些综合征之间有许多重叠的表型特征，包括特征性的面部特征、心脏缺陷、皮肤异常、神经认知延迟和易患恶性肿瘤。在这里，我们回顾了每一个这些综合征的临床和潜在的分子基础。
The Ras/mitogen activated protein kinase (MAPK) pathway is essential in the regulation of the cell cycle, differentiation, growth and cell senescence, all of which are critical to normal development. It is therefore not surprising that its dysregulation has profound effects on development. A class of developmental disorders, the “RASopathies”, is caused by germline mutations in genes that encode protein components of the Ras/MAPK pathway. The vast majority of these mutations result in increased signal transduction down the Ras/MAPK pathway, but usually to a lesser extent than somatic mutations associated with oncogenesis. Each syndrome exhibits unique phenotypic features, however, since they all cause dysregulation of the Ras/MAPK pathway, there are numerous overlapping phenotypic features between the syndromes, including characteristic facial features, cardiac defects, cutaneous abnormalities, neurocognitive delay and a predisposition to malignancies. Here we review the clinical and underlying molecular basis for each of these syndromes.
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DOI：
10.1073/pnas.0507399103
发表时间：
2006-01-31
影响因子：
11.1
作者：
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通讯作者：
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影响因子：
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影响因子：
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作者：
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通讯作者：
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