Progress in human chondrodysplasias: molecular genetics.
Progress in human chondrodysplasias: molecular genetics.
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人类软骨发育不良的进展：分子遗传学。
DOI：
10.1111/j.1749-6632.1996.tb56253.x
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发表时间：
1996
影响因子：
5.2
通讯作者：
Horton,WA
中科院分区：
文献类型：
--
作者：
Horton,WA
人类软骨发育不良是一组多样化且具有遗传异质性的骨骼发育疾病。 I.* 它们是由于突变对骨骼生长板中发生的软骨内骨化产生不利影响。目标事件包括生长板软骨细胞的增殖和分化以及软骨基质的同时发生和调节，软骨基质充当骨形成的模板并产生关节的关节表面。在大多数情况下，突变的基因在参与软骨内骨化的细胞或其前体中表达。历史上，软骨发育不良一直抵制确定其遗传基础的尝试。然而，最近取得的重大进展已经确定了许多基因不仅含有导致软骨发育不良的突变，而且其产物对人类线性骨生长具有重要功能。以下是对该领域最新进展的简要回顾。
The human chondrodysplasias are a diverse and genetically heterogeneous group of disorders of skeletal development. I.* They are due to mutations that adversely affect endochondral ossification as it occurs in the skeletal growth plate. The target events include the proliferation and differentiation of growth plate chondrocytes and the coincident genesis and modulation of cartilage matrix that serves as a template for bone formation and gives rise to the articular surfaces of joints. For the most part, the genes that are mutated are expressed in the cells or their precursors that participate in endochondral ossification.Historically, the chondrodysplasias have resisted attempts to determine their genetic basis. However, major advances have been made in the recent past that have identified a number of genes not only as being the ones that harbor mutations that cause chondrodysplasias, but as genes whose products are functionally important to linear bone growth in humans. What follows is a brief review of recent progress in this field.