[神经皮肤综合征的近期研究结果]
[The results of recent research in neurocutaneous syndromes].
作者信息
Ohno K
机构信息
Department of Neurobiology, School of Life Sciences, Tottori University Faculty of Medicine, Yonago.
出版信息
No To Hattatsu. 1998 Mar;30(2):109-14.
Identification of NF1, TSC2 and TSC1 genes has enabled us to focus on their function and regulation. Evidence suggests that these genes are tumor suppressor genes. Malignant tissues in NF1 and hamartomatous tissues in TSC show "loss of heterozygosity" in NF1 and TSC1, 2 genes, respectively. In addition, in the Eker rat with hereditary renal carcinoma, a mutation in the TSC2 gene has been identified. In this review I mentioned briefly several issues to be clarified in the near future.
NF1、TSC2和TSC1基因的鉴定使我们能够专注于它们的功能和调控。有证据表明这些基因是肿瘤抑制基因。NF1的恶性组织和TSC的错构瘤组织分别在NF1和TSC1、2基因中显示出“杂合性缺失”。此外，在患有遗传性肾癌的埃克大鼠中，已鉴定出TSC2基因的突变。在这篇综述中，我简要提到了几个在不久的将来有待阐明的问题。
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