• 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

Carriers of a single mutation are asymptomatic: an evolving dogma?

作者信息

Martin Clémence, Burgel Pierre-Régis

机构信息

Institut Cochin, Inserm U1016 and Université de Paris, Paris, France.

Dept of Respiratory Medicine and National Reference Center for Cystic Fibrosis Cochin Hospital, Assistance Publique, Hôpitaux de Paris, Paris, France.

出版信息

Eur Respir J. 2020 Sep 10;56(3). doi: 10.1183/13993003.02645-2020. Print 2020 Sep.

DOI:10.1183/13993003.02645-2020
PMID:32912926
Abstract
摘要

相似文献

1
Carriers of a single mutation are asymptomatic: an evolving dogma?单一突变携带者无症状:这是一个不断发展的教条吗?
Eur Respir J. 2020 Sep 10;56(3). doi: 10.1183/13993003.02645-2020. Print 2020 Sep.
2
Female cystic fibrosis mutation carriers and assisted reproductive technology: does carrier status affect reproductive outcomes?女性囊性纤维化基因突变携带者与辅助生殖技术:携带者状态是否影响生殖结局?
Fertil Steril. 2014 Nov;102(5):1324-30. doi: 10.1016/j.fertnstert.2014.07.1234. Epub 2014 Sep 11.
3
Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.一对夫妇接受卵胞浆内单精子注射的结果,该男性为囊性纤维化跨膜传导调节因子(CFTR)基因p.[R74W;V201M;D1270N]和p.P841R突变携带者,其配偶为CFTR基因p.F508del突变的杂合子携带者
Fertil Steril. 2008 Nov;90(5):2004.e23-6. doi: 10.1016/j.fertnstert.2008.05.057. Epub 2008 Aug 13.
4
Expanding CFTR Modulator Testing to Carriers of CFTR Variants.将囊性纤维化跨膜传导调节因子(CFTR)调节剂检测扩展至CFTR变异携带者。
Ann Am Thorac Soc. 2021 Nov;18(11):1776-1779. doi: 10.1513/AnnalsATS.202011-1397PS.
5
Clinical implications of cystic fibrosis transmembrane conductance regulator mutations.囊性纤维化跨膜传导调节因子突变的临床意义
Clin Chest Med. 1998 Sep;19(3):443-58, v. doi: 10.1016/s0272-5231(05)70092-7.
6
[Acute recurrent pancreatitis and heterozygous mutation of the cystic fibrosis gene: a case report].[急性复发性胰腺炎与囊性纤维化基因杂合突变:一例报告]
Arch Pediatr. 2000 Apr;7(4):388-90. doi: 10.1016/S0929-693X(00)88834-X.
7
Gene symbol: CFTR. Disease: Cystic fibrosis.
Hum Genet. 2004 Mar;114(4):403.
8
Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.正常囊性纤维化跨膜传导调节因子信使核糖核酸的5%可改善囊性纤维化肺部疾病的严重程度。
Am J Respir Cell Mol Biol. 2002 Nov;27(5):619-27. doi: 10.1165/rcmb.2001-0004OC.
9
Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype.囊性纤维化跨膜传导调节因子的分子遗传学:基因型与表型
Pediatr Clin North Am. 2016 Aug;63(4):585-98. doi: 10.1016/j.pcl.2016.04.002.
10
Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis.导致囊性纤维化的一种新发的新型CFTR突变(L1065R)的父源起源。
Hum Mutat. 1998;Suppl 1:S99-102. doi: 10.1002/humu.1380110133.

引用本文的文献

1
Understanding the action of bamocaftor as a potential drug candidate against Cystic Fibrosis Transmembrane Regulator protein: A computational approach.了解巴莫卡托作为一种潜在的抗囊性纤维化跨膜传导调节蛋白药物候选物的作用:一种计算方法。
PLoS One. 2025 Jul 23;20(7):e0328051. doi: 10.1371/journal.pone.0328051. eCollection 2025.
2
Prevalence of Cystic Fibrosis Carrier Status in Chronic Rhinosinusitis Without Nasal Polyp.无鼻息肉慢性鼻-鼻窦炎患者中囊性纤维化携带者状态的患病率
Int Forum Allergy Rhinol. 2025 Jul;15(7):734-736. doi: 10.1002/alr.23549. Epub 2025 Feb 19.
3
Establishment of a conditionally reprogrammed primary eccrine sweat gland culture for evaluation of tissue-specific CFTR function.
建立用于评估组织特异性囊性纤维化跨膜传导调节因子(CFTR)功能的条件性重编程原发性小汗腺培养体系。
J Cyst Fibros. 2024 Nov;23(6):1173-1179. doi: 10.1016/j.jcf.2024.06.013. Epub 2024 Jul 4.
4
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort.下一代测序在囊性纤维化筛查分析中的应用:意大利中南部队列的频谱和新变异。
Genes (Basel). 2023 Aug 11;14(8):1608. doi: 10.3390/genes14081608.
5
Cystic fibrosis transmembrane conductance regulator in COPD: a role in respiratory epithelium and beyond.慢性阻塞性肺疾病中的囊性纤维化跨膜电导调节因子:呼吸上皮细胞内外的作用。
Eur Respir J. 2023 Apr 1;61(4). doi: 10.1183/13993003.01307-2022. Print 2023 Apr.
6
Lower Expression of Is Associated with Higher Mortality in a Meta-Analysis of Individuals with Colorectal Cancer.在一项针对结直肠癌患者的荟萃分析中,[具体内容]的低表达与较高死亡率相关。
Cancers (Basel). 2023 Feb 3;15(3):989. doi: 10.3390/cancers15030989.