• 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

First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.

作者信息

Parlato Marianna, Charbit-Henrion Fabienne, Hayes Patti, Tiberti Antonio, Aloi Marina, Cucchiara Salvatore, Bègue Bernadette, Bras Marc, Pouliet Aurore, Rakotobe Sabine, Ruemmele Frank, Knaus Ulla G, Cerf-Bensussan Nadine

机构信息

INSERM, UMR1163, Laboratory of Intestinal Immunity and Institut Imagine, Paris, France and GENIUS group from ESPGHAN and Université Paris Descartes-Sorbonne Paris Cité, Paris, France.

INSERM, UMR1163, Laboratory of Intestinal Immunity and Institut Imagine, Paris, France and GENIUS group from ESPGHAN and Université Paris Descartes-Sorbonne Paris Cité and Assistance Publique-Hôpitaux de Paris, Hôpital Necker-Enfants Malades, Department of Pediatric Gastroenterology, Paris, France.

出版信息

Gastroenterology. 2017 Aug;153(2):609-611.e3. doi: 10.1053/j.gastro.2016.12.053. Epub 2017 Jul 3.

DOI:10.1053/j.gastro.2016.12.053
PMID:28683258
Abstract
摘要

相似文献

1
First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease.首次鉴定出双等位基因遗传性DUOX2失活突变是极早发型炎症性肠病的一个病因。
Gastroenterology. 2017 Aug;153(2):609-611.e3. doi: 10.1053/j.gastro.2016.12.053. Epub 2017 Jul 3.
2
Novel biallelic mutations in the DUOX2 gene underlying very early-onset inflammatory bowel disease: A case report.早发型炎症性肠病潜在的DUOX2基因新型双等位基因突变：一例报告
Clin Immunol. 2022 May;238:109015. doi: 10.1016/j.clim.2022.109015. Epub 2022 Apr 14.
3
[Immunobiology of chronic inflammatory bowel diseases].[慢性炎症性肠病的免疫生物学]
Dtsch Med Wochenschr. 2006 Nov 24;131(47):2657-60. doi: 10.1055/s-2006-956271.
4
Thiopurines during pregnancy in inflammatory bowel disease: is there a risk for the (unborn) child?炎症性肠病患者孕期使用硫嘌呤类药物：对（未出生的）胎儿有风险吗？
Expert Rev Gastroenterol Hepatol. 2013 Nov;7(8):669-71. doi: 10.1586/17474124.2013.841541. Epub 2013 Oct 17.
5
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.四肽重复结构域 7A 突变导致一种严重形式的极早发性炎症性肠病。
Gastroenterology. 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11.
6
Therapeutic Drug Monitoring in Inflammatory Bowel Disease: A Patient Guide.炎症性肠病的治疗药物监测：患者指南
Gastroenterology. 2017 Sep;153(3):860-861. doi: 10.1053/j.gastro.2017.07.037. Epub 2017 Jul 31.
7
Which patients with inflammatory bowel disease should receive combination therapy?哪些炎症性肠病患者应接受联合治疗？
Expert Rev Gastroenterol Hepatol. 2015 Jun;9(6):715-7. doi: 10.1586/17474124.2015.1039989. Epub 2015 Apr 25.
8
Therapeutic Drug Monitoring in Inflammatory Bowel Disease: Clinical Decision Support Tool.炎症性肠病的治疗药物监测：临床决策支持工具
Gastroenterology. 2017 Sep;153(3):858-859. doi: 10.1053/j.gastro.2017.07.039. Epub 2017 Aug 1.
9
Update on pathogenesis and predictors of response of therapeutic strategies used in inflammatory bowel disease.炎症性肠病治疗策略的发病机制及反应预测因素的最新进展
World J Gastroenterol. 2015 Nov 28;21(44):12519-43. doi: 10.3748/wjg.v21.i44.12519.
10
American Gastroenterological Association Institute Guideline on Therapeutic Drug Monitoring in Inflammatory Bowel Disease.美国胃肠病学会关于炎症性肠病治疗药物监测的学会指南。
Gastroenterology. 2017 Sep;153(3):827-834. doi: 10.1053/j.gastro.2017.07.032. Epub 2017 Aug 3.

引用本文的文献

1
Innate Immunity Reimagined: Metabolic Reprogramming as a Gateway to Novel Therapeutics.重新构想的固有免疫：代谢重编程作为新型疗法的途径
Int J Biol Sci. 2025 Jul 28;21(11):5056-5078. doi: 10.7150/ijbs.114010. eCollection 2025.
2
De novo DUOX2 expression in neutrophil subsets shapes the pathogenesis of intestinal disease.中性粒细胞亚群中从头开始的DUOX2表达塑造了肠道疾病的发病机制。
Proc Natl Acad Sci U S A. 2025 May 13;122(19):e2421747122. doi: 10.1073/pnas.2421747122. Epub 2025 May 6.
3
NADPH oxidases: redox regulation of cell homeostasis and disease.
烟酰胺腺嘌呤二核苷酸磷酸氧化酶：细胞稳态与疾病的氧化还原调节
Physiol Rev. 2025 Jul 1;105(3):1291-1428. doi: 10.1152/physrev.00034.2023. Epub 2025 Jan 15.
4
Characterization of intestinal O-glycome in reactive oxygen species deficiency.活性氧缺乏条件下肠道 O-聚糖的特征。
PLoS One. 2024 Mar 14;19(3):e0297292. doi: 10.1371/journal.pone.0297292. eCollection 2024.
5
Functional studies associate novel DUOX2 gene variants detected in heterozygosity to Crohn's disease.功能研究将在杂合子中检测到的新型 DUOX2 基因突变与克罗恩病联系起来。
Mol Biol Rep. 2024 Mar 8;51(1):399. doi: 10.1007/s11033-024-09317-8.
6
Case report: Neonatal-onset inflammatory bowel disease due to novel compound heterozygous mutations in .病例报告：由于……中的新型复合杂合突变导致的新生儿期炎性肠病
Front Genet. 2023 Nov 23;14:1276697. doi: 10.3389/fgene.2023.1276697. eCollection 2023.
7
Epigenetic and metabolic reprogramming in inflammatory bowel diseases: diagnostic and prognostic biomarkers in colorectal cancer.炎症性肠病中的表观遗传和代谢重编程：结直肠癌的诊断和预后生物标志物
Cancer Cell Int. 2023 Nov 7;23(1):264. doi: 10.1186/s12935-023-03117-z.
8
Another Breach in the Wall: Impaired Epithelial DUOX2 Activity Fuels Metabolic Syndrome.屏障的又一漏洞：上皮双氧化酶2（DUOX2）活性受损助长代谢综合征
Cell Mol Gastroenterol Hepatol. 2023;16(4):648-649. doi: 10.1016/j.jcmgh.2023.07.005. Epub 2023 Jul 28.
9
High-throughput screening of caterpillars as a platform to study host-microbe interactions and enteric immunity.高通量筛选毛毛虫作为研究宿主-微生物相互作用和肠内免疫的平台。
Nat Commun. 2022 Nov 24;13(1):7216. doi: 10.1038/s41467-022-34865-7.
10
Raising the 'Good' Oxidants for Immune Protection.提升“有益”氧化剂，增强免疫防护。
Front Immunol. 2021 Jun 4;12:698042. doi: 10.3389/fimmu.2021.698042. eCollection 2021.