• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

A de novo frame-shift mutation in the tuberin gene.

作者信息

Kumar A, Wolpert C, Kandt R S, Segal J, Pufky J, Roses A D, Pericak-Vance M A, Gilbert J R

机构信息

Duke University Medical Center, Durham, NC 27710, USA.

出版信息

Hum Mol Genet. 1995 Aug;4(8):1471-2. doi: 10.1093/hmg/4.8.1471.

DOI:10.1093/hmg/4.8.1471
PMID:7581393
Abstract
摘要

相似文献

1
A de novo frame-shift mutation in the tuberin gene.
Hum Mol Genet. 1995 Aug;4(8):1471-2. doi: 10.1093/hmg/4.8.1471.
2
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis.结节性硬化症中,TSC2基因产物结节蛋白的GAP相关结构域是错义突变的靶点。
Hum Mol Genet. 1997 Oct;6(11):1991-6. doi: 10.1093/hmg/6.11.1991.
3
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene.
Hum Mutat. 1998;Suppl 1:S85-7. doi: 10.1002/humu.1380110129.
4
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis.与结节性硬化症最小临床表现相关的GAP相关结构域中一种新型TSC2错义突变的特征分析
J Med Genet. 2004 May;41(5):e64. doi: 10.1136/jmg.2003.010835.
5
Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene.患有TSC2基因相同突变的单卵双胞胎的不一致临床表现。
Clin Genet. 2003 May;63(5):427-30. doi: 10.1034/j.1399-0004.2003.00073.x.
6
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients.在散发性和家族性结节性硬化症患者的TSC2基因中检测到的新突变。
Hum Mol Genet. 1996 Feb;5(2):249-56. doi: 10.1093/hmg/5.2.249.
7
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.在一个疑似结节性硬化症复合体诊断的家族中,鉴定出TSC2基因5'端的一个无义突变。
J Med Genet. 1996 Jan;33(1):47-51. doi: 10.1136/jmg.33.1.47.
8
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.对结节性硬化症患者中发现的TSC2终止密码子变体的分析。
Eur J Hum Genet. 2001 Nov;9(11):823-8. doi: 10.1038/sj.ejhg.5200728.
9
Does tuberin function as a tumor suppressor in the cerebral lesions of tuberous sclerosis? Early observations.结节蛋白在结节性硬化症的脑部病变中是否发挥肿瘤抑制作用?早期观察结果。
Brain Pathol. 1996 Oct;6(4):375-6. doi: 10.1111/j.1750-3639.1996.tb00867.x.
10
Non-penetrance in tuberous sclerosis.结节性硬化症的外显不全
Lancet. 2000 May 13;355(9216):1698. doi: 10.1016/s0140-6736(00)02247-9.

引用本文的文献

1
Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.双等位基因KICS2突变损害KICSTOR复合物介导的mTORC1调节,导致智力残疾和癫痫。
Am J Hum Genet. 2025 Feb 6;112(2):374-393. doi: 10.1016/j.ajhg.2024.12.019. Epub 2025 Jan 16.
2
[Hereditary cutaneous tumor syndromes].[遗传性皮肤肿瘤综合征]
Hautarzt. 2019 Jul;70(7):490-496. doi: 10.1007/s00105-019-4432-6.
3
Genomewide analysis of inherited variation associated with phosphorylation of PI3K/AKT/mTOR signaling proteins.
全基因组分析与 PI3K/AKT/mTOR 信号蛋白磷酸化相关的遗传变异。
PLoS One. 2011;6(9):e24873. doi: 10.1371/journal.pone.0024873. Epub 2011 Sep 19.
4
Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5.位于人类染色体11p15.5区段的SLC22A1LS基因的父系印记。
BMC Genet. 2004 Jun 3;5:13. doi: 10.1186/1471-2156-5-13.
5
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.225例结节性硬化症患者队列中TSC1基因的突变谱:无基因型-表型相关性证据
J Med Genet. 1999 Apr;36(4):285-9.
6
Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.150例结节性硬化症家系中TSC1和TSC2的全面突变分析及表型相关性研究
Am J Hum Genet. 1999 May;64(5):1305-15. doi: 10.1086/302381.
7
Mutations in the TSC1 gene account for a minority of patients with tuberous sclerosis.结节性硬化症患者中,少数是由TSC1基因突变所致。
J Med Genet. 1998 Dec;35(12):969-72. doi: 10.1136/jmg.35.12.969.
8
Inactivation of the cyclin-dependent kinase inhibitor p27 upon loss of the tuberous sclerosis complex gene-2.结节性硬化症复合物基因2缺失时细胞周期蛋白依赖性激酶抑制剂p27的失活
Proc Natl Acad Sci U S A. 1998 Dec 22;95(26):15653-8. doi: 10.1073/pnas.95.26.15653.
9
Germ-line mutational analysis of the TSC2 gene in 90 tuberous-sclerosis patients.90例结节性硬化症患者TSC2基因的种系突变分析。
Am J Hum Genet. 1998 Feb;62(2):286-94. doi: 10.1086/301705.
10
Intragenic Tsc2 somatic mutations as Knudson's second hit in spontaneous and chemically induced renal carcinomas in the Eker rat model.基因内Tsc2体细胞突变作为克努森二次打击,出现在埃克大鼠模型的自发性和化学诱导性肾癌中。
Jpn J Cancer Res. 1997 Mar;88(3):254-61. doi: 10.1111/j.1349-7006.1997.tb00375.x.