Genatlas database, genes and development defects
Genatlas database, genes and development defects
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DOI：
10.1016/s0764-4469(99)80021-3
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发表时间：
1998-10-01
期刊：
影响因子：
--
通讯作者：
Frezal, J
中科院分区：
文献类型：
--
作者：
Frezal, J
本文旨在说明Genatlas数据库的潜力，作为一个例子，发育基因及其相关疾病的人。这些基因属于几个类别干预从胚胎生命的第一阶段。它们在从细胞外信号传导到靶基因激活的发育级联的所有步骤中起作用。在人类中已经鉴定了相当多的这些基因，它们是先前在低等物种中描述的基因的直系同源物。这些基因被绘制出来，越来越多的基因与发育异常有关。这些研究揭示了先天性畸形的机制。它们揭示了大量的遗传和表型异质性和高度的复杂性。(C)科学院/爱思唯尔，巴黎。
This article aims to illustrate the potentialities of the Genatlas database, taking, as an example, the developmental genes and their associated diseases in man. These genes belong to several categories intervening from the first stages of embryonic life. They operate at all steps of developmental cascades from extracellular signaling to activation of target genes. Quite a number of those genes have been identified in man, which are the orthologs of genes previously described in lower species. These genes are mapped and an increasing number are associated with developmental anomalies. These studies shed light on the mechanisms of congenital malformations. They disclose a large array of genetic and phenotypic heterogeneity and a high degree of complexity. (C) Academie des sciences / Elsevier, Paris.