Splicing of exon 5 in the WT1 gene is disrupted in Wilms' tumour.

Splicing of exon 5 in the WT1 gene is disrupted in Wilms' tumour.
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WT1 基因中外显子 5 的剪接在维尔姆斯肿瘤中被破坏。

DOI:
10.1016/0959-8049(95)00474-2
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发表时间:
1995
影响因子:
8.4
通讯作者:
P. Smith
P. Smith
中科院分区:
医学1区
文献类型:
--
作者:
L. Simms;E. Algar;P. Smith

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使用逆转录酶聚合酶链反应检查维尔姆斯肿瘤抑制基因 WT1 中位点 I(外显子 5)和位点 II(外显子 9)的交替剪接,我们发现在检查的 10 个维尔姆斯肿瘤中,有 7 个位点 I 的剪接被破坏。预计这将导致维尔姆斯肿瘤中同工型不平衡,其中外显子 5 编码的 17 个氨基酸缺失的同工型增加。这些观察结果不能用侧翼内含子的突变或重排来解释。外显子 5 的交替剪接中断可能在维尔姆斯肿瘤的病因学中发挥作用。
Using a reverse transcriptase polymerase chain reaction to examine alternate splicing at site I (exon 5) and site II (exon 9) in the Wilms' tumour suppressor gene, WT1, we found that in seven of the 10 Wilms' tumours examined, splicing at site I was disrupted. This is predicted to result in isoform imbalance in Wilms' tumours, with an increase in isoforms in which the 17 amino acids encoded by exon 5 are missing. These observations could not be explained by mutations or rearrangements in flanking introns. Disrupted alternate splicing of exon 5 may play a role in the aetiology of Wilms' tumour.
DOI: 10.1126/science.1825520
发表时间: 1991-03-01
期刊: SCIENCE
影响因子: 56.9
作者:
KUO, HC;NASIM, FUH;GRABOWSKI, PJ
通讯作者: GRABOWSKI, PJ
DOI: 10.1101/gad.8.6.720
发表时间: 1994-03-15
影响因子: 10.5
作者:
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大鼠和人间皮瘤中维尔姆斯肿瘤抑制基因的表达。
DOI: --
发表时间: 1994
期刊: Cancer research
影响因子: 11.2
作者:
Walker,C;Rutten,F;Yuan,X;Pass,H;Mew,DM;Everitt,J
通讯作者: Everitt,J
DOI: 10.1073/pnas.88.21.9618
发表时间: 1991-11-01
影响因子: 11.1
作者:
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通讯作者: HOUSMAN, DE