• 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

Identification of a novel germline N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis.

作者信息

Forte Giovanna, Grossi Valentina, Cariola Filomena, Buonadonna Antonia Lucia, Sanese Paola, De Marco Katia, Fasano Candida, Lepore Signorile Martina, Disciglio Vittoria, Simone Cristiano

机构信息

Medical Genetics, National Institute of Gastroenterology IRCCS "S. de Bellis" Research Hospital, Castellana Grotte, Bari 70013, Italy.

Medical Genetics, Department of Precision and Regenerative Medicine and Jonic Area (DiMePRe-J), University of Bari Aldo Moro, Bari 70124, Italy.

出版信息

Genes Dis. 2023 Sep 7;11(6):101078. doi: 10.1016/j.gendis.2023.101078. eCollection 2024 Nov.

DOI:10.1016/j.gendis.2023.101078
PMID:39104424
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11298831/
Abstract
摘要

相似文献

1
Identification of a novel germline N-terminal pathogenic variant associated with attenuated familial adenomatous polyposis.鉴定一种与attenuated家族性腺瘤性息肉病相关的新型种系N端致病变异。
Genes Dis. 2023 Sep 7;11(6):101078. doi: 10.1016/j.gendis.2023.101078. eCollection 2024 Nov.
2
Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations.土耳其人群家族性腺瘤性息肉病患者的突变谱：鉴定出 3 种新的 APC 突变。
Turk J Gastroenterol. 2022 Feb;33(2):81-87. doi: 10.5152/tjg.2021.201068.
3
A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.在一个有家族性腺瘤性息肉病的泰国南部家庭中发现了一种独特的 APC 致病性种系变异。
BMC Med Genomics. 2021 Mar 19;14(1):87. doi: 10.1186/s12920-021-00933-y.
4
A case of attenuated familial adenomatous polyposis in which genetic testing revealed that the children were asymptomatic gene carriers.一例轻度家族性腺瘤性息肉病病例，基因检测显示其子女为无症状基因携带者。
Jpn J Clin Oncol. 2023 Aug 30;53(9):866-869. doi: 10.1093/jjco/hyad065.
5
APC germline variant analysis in the adenomatous polyposis phenotype in Japanese patients.日本患者腺瘤性息肉病表型中的APC种系变异分析。
Int J Clin Oncol. 2021 Sep;26(9):1661-1670. doi: 10.1007/s10147-021-01946-4. Epub 2021 Jun 9.
6
Novel Pathogenic Germline Variant of the Adenomatous Polyposis Coli (APC) Gene, p.S2627Gfs*12 Identified in a Mild Phenotype of APC-Associated Polyposis: A Case Report.在APC相关息肉病的轻度表型中鉴定出腺瘤性息肉病大肠杆菌（APC）基因的新型致病种系变体p.S2627Gfs*12：病例报告
Am J Case Rep. 2020 Dec 11;21:e927293. doi: 10.12659/AJCR.927293.
7
Novel and reported APC germline mutations in Chinese patients with familial adenomatous polyposis.中国家族性腺瘤性息肉病患者中新型及已报道的APC胚系突变
Gene. 2016 Feb 15;577(2):187-92. doi: 10.1016/j.gene.2015.11.034. Epub 2015 Nov 25.
8
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with mutation at the extreme 3'-end.胃息肉病和硬纤维瘤作为一种新的家族性腺瘤性息肉病临床变异型，与极端 3'-末端的 突变相关。
J Med Genet. 2020 May;57(5):356-360. doi: 10.1136/jmedgenet-2019-106299. Epub 2019 Oct 7.
9
Predictive modeling for the germline pathogenic variant of the APC gene in patients with adenomatous polyposis: proposing a new APC score.腺瘤性息肉病患者APC基因种系致病性变异的预测模型：提出一种新的APC评分
Surg Today. 2025 Feb;55(2):229-237. doi: 10.1007/s00595-024-02894-y. Epub 2024 Jul 6.
10
Identification of a Novel Pathogenic Rearrangement Variant of the APC Gene Associated with a Variable Spectrum of Familial Cancer.鉴定一种与家族性癌症可变谱相关的APC基因新型致病性重排变异体。
Diagnostics (Basel). 2021 Feb 28;11(3):411. doi: 10.3390/diagnostics11030411.

引用本文的文献

1
Clinical Assessment and Genetic Testing for Hereditary Polyposis Syndromes in an Italian Cohort of Patients with Colorectal Polyps.意大利结直肠息肉患者队列中遗传性息肉病综合征的临床评估和基因检测
Cancers (Basel). 2024 Oct 26;16(21):3617. doi: 10.3390/cancers16213617.

本文引用的文献

1
Identification and Somatic Characterization of the Germline Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors.鉴定和体细胞特征分析家族性胃肠道和乳腺癌中的种系启动子变异 rs34149102。
Genes (Basel). 2022 Apr 5;13(4):644. doi: 10.3390/genes13040644.
2
Heterozygous APC germline mutations impart predisposition to colorectal cancer.杂合性 APC 种系突变赋予结直肠癌易感性。
Sci Rep. 2021 Mar 4;11(1):5113. doi: 10.1038/s41598-021-84564-4.
3
Premature termination codons in the gene cause reduced local mRNA synthesis.
基因中的提前终止密码子导致局部 mRNA 合成减少。
Proc Natl Acad Sci U S A. 2020 Jul 14;117(28):16456-16464. doi: 10.1073/pnas.1910456117. Epub 2020 Jul 2.
4
Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with mutation at the extreme 3'-end.胃息肉病和硬纤维瘤作为一种新的家族性腺瘤性息肉病临床变异型，与极端 3'-末端的 突变相关。
J Med Genet. 2020 May;57(5):356-360. doi: 10.1136/jmedgenet-2019-106299. Epub 2019 Oct 7.
5
Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds.家族性腺瘤性息肉病家系中APC基因的新型种系突变及其表型谱。
Hum Genet. 1997 Oct;100(5-6):601-5. doi: 10.1007/s004390050560.