Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development.
Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development.
复制标题
花斑症、瓦登堡综合征以及黑素细胞发育的相关疾病。
DOI：
10.1016/s1085-5629(97)80031-4
复制
发表时间：
1997
期刊：
影响因子：
--
通讯作者：
Spritz,RA
中科院分区：
文献类型：
--
作者：
Spritz,RA
近年来，已经发现了一个复杂的网络相互作用的基因，调节黑素细胞的胚胎发育，和许多不同的遗传疾病的黑素细胞发育的人类和实验室小鼠现在已经与这些调控基因的异常。黑素细胞发育障碍的特征是色素沉着的不均匀分布，即所谓的“白色斑点”，典型的是斑驳病和Waardenburg综合征。现在清楚的是，这些色素细胞发育障碍代表了神经损伤的一个亚组，涉及包括黑素细胞在内的各种神经嵴细胞谱系的缺陷，但也涉及来自神经嵴的许多其他组织。
Recent years have seen the identification of a complex network of interacting genes that regulates embryonic development of melanocytes, and many different genetic disorders of melanocyte development of both humans and the laboratory mouse have now been associated with abnormalities of these regulatory genes. Disorders of melanocyte development are characterized by heterogeneous distribution of pigmentation, so-called'white spotting,'typified by piebaldism and Waardenburg syndrome. It is now clear that these disorders of pigment cell development represent a subgroup of the neurocristopathies, involving defects of various neural crest cell lineages that include melanocytes, but also involving many other tissues derived from the neural crest.