Denys-Drash syndrome: a role for the WT1 tumour suppressor gene in urogenital development

Wendy Bruening, Jerry Pelletier
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引用次数: 12

Abstract

Abstract The study of inherited disease provides unique insight into basic developmental and biochemical processes. By linking the pathogenesis of complex malformations to mutations of specific genes, the function of those genes in normal developmental biology can be inferred. One such disorder is the Denys-Drash syndrome, where identification of genetic lesions within the WT1 tumour suppressor gene has provided astonishing insight into events regulating development of the urogenital system.
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Denys-Drash综合征:WT1肿瘤抑制基因在泌尿生殖发育中的作用
遗传疾病的研究提供了对基本发育和生化过程的独特见解。通过将复杂畸形的发病机制与特定基因的突变联系起来,可以推断这些基因在正常发育生物学中的功能。其中一种疾病是丹尼斯-德拉什综合征,在WT1肿瘤抑制基因中发现遗传病变,为了解调节泌尿生殖系统发育的事件提供了惊人的见解。
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