RTK mutations and human syndromeswhen good receptors turn bad.
RTK mutations and human syndromeswhen good receptors turn bad.
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DOI：
10.1016/s0168-9525(00)02021-7
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发表时间：
2000-06
期刊：
影响因子：
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通讯作者：
S. Robertson;J. Tynan;D. Donoghue
中科院分区：
文献类型：
--
作者：
S. Robertson;J. Tynan;D. Donoghue
受体酪氨酸激酶 (RTK) 突变与越来越多的遗传性人类疾病综合征有关，包括侏儒症、颅缝早闭、遗传性癌症易感性、静脉畸形和花斑症。已观察到导致组成型受体激活的功能获得突变和导致无功能或显性失活受体的功能丧失突变。这篇综述总结了涉及遗传综合征的 RTK 家族，描述了疾病突变的分子后果，并预测许多新的突变仍有待鉴定。
Mutations in receptor tyrosine kinases (RTKs) have been linked to an increasing number of inherited human disease syndromes, including dwarfism, craniosynostosis, heritable cancer susceptibility, venous malformation and Piebaldism. Both gain-of-function mutations resulting in constitutive receptor activation, and loss-of-function mutations resulting in non-functional or dominant negative receptors, have been observed. This review summarizes RTK families that are involved in inherited syndromes, describes the molecular consequences of the disease mutations, and predicts that many novel mutations remain to be identified.