功能性启动子F12-46C/T变体可预测C1-INH-HAE的无症状表型。 - Suppr

Suppr

超能文献

The functional promoter F12-46C/T variant predicts the asymptomatic phenotype of C1-INH-HAE.

作者信息

Rijavec Matija, Košnik Mitja, Andrejević Slađana, Karadža-Lapić Ljerka, Grivčeva-Panovska Vesna, Korošec Peter

机构信息

University Clinic of Respiratory and Allergic Diseases Golnik, Golnik, Slovenia.

Medical Faculty Ljubljana, Ljubljana, Slovenia.

出版信息

Clin Exp Allergy. 2019 Nov;49(11):1520-1522. doi: 10.1111/cea.13470. Epub 2019 Jul 23.

DOI:10.1111/cea.13470

PMID:31334892

Abstract

摘要

相似文献

The functional promoter F12-46C/T variant predicts the asymptomatic phenotype of C1-INH-HAE.功能性启动子F12-46C/T变体可预测C1-INH-HAE的无症状表型。

Clin Exp Allergy. 2019 Nov;49(11):1520-1522. doi: 10.1111/cea.13470. Epub 2019 Jul 23.

Hereditary angioedema due to C1-inhibitor deficiency in Macedonia: clinical characteristics, novel SERPING1 mutations and genetic factors modifying the clinical phenotype.马其顿遗传性血管性水肿伴 C1 酯酶抑制剂缺乏症：临床特征、新型 SERPING1 突变和影响临床表型的遗传因素。

Ann Med. 2018 May;50(3):269-276. doi: 10.1080/07853890.2018.1449959. Epub 2018 Mar 15.

Hereditary angioedema with normal C1-INH with versus without specific F12 gene mutations.遗传性血管性水肿伴正常 C1-INH 与有无特定 F12 基因突变。

Allergy. 2015 Aug;70(8):1004-12. doi: 10.1111/all.12648. Epub 2015 May 22.

Hereditary Angioedema with Normal C1 Inhibitor and F12 Mutations in 42 Brazilian Families.遗传性血管性水肿伴正常 C1 抑制剂和 F12 突变的 42 个巴西家族。

J Allergy Clin Immunol Pract. 2018 Jul-Aug;6(4):1209-1216.e8. doi: 10.1016/j.jaip.2017.09.025. Epub 2017 Nov 8.

SERPING1 and F12 combined variants in a hereditary angioedema family.遗传性血管性水肿家族中的丝氨酸蛋白酶抑制因子1（SERPING1）和凝血因子XII（F12）联合变异体

Ann Allergy Asthma Immunol. 2018 Oct;121(4):500-502. doi: 10.1016/j.anai.2018.05.031. Epub 2018 Jun 6.

Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor.巴西正常C1抑制剂遗传性血管性水肿家族中的凝血因子XII基因突变

Int Arch Allergy Immunol. 2015;166(2):114-20. doi: 10.1159/000376547. Epub 2015 Mar 13.

Genetics of Hereditary Angioedema Revisited.遗传性血管性水肿的遗传学再探讨。

Clin Rev Allergy Immunol. 2016 Oct;51(2):170-82. doi: 10.1007/s12016-016-8543-x.

Hereditary angioedema with normal C1 inhibitor and factor XII mutation: a series of 57 patients from the French National Center of Reference for Angioedema.伴有正常C1抑制剂和因子XII突变的遗传性血管性水肿：来自法国血管性水肿国家参考中心的57例患者系列研究

Clin Exp Immunol. 2016 Sep;185(3):332-7. doi: 10.1111/cei.12820.

F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema.F12-46C/T 多态性作为遗传性血管性水肿临床表型的修饰因子。

Allergy. 2015 Dec;70(12):1661-4. doi: 10.1111/all.12714. Epub 2015 Aug 26.

Hereditary angioedema with normal C1 inhibitor: clinical characteristics and treatment response with plasma-derived human C1 inhibitor concentrate (Berinert) in a French cohort.C1抑制剂正常的遗传性血管性水肿：法国队列中使用血浆源性人C1抑制剂浓缩物（贝林妥欧）的临床特征及治疗反应

Eur J Dermatol. 2017 Apr 1;27(2):155-159. doi: 10.1684/ejd.2016.2948.

引用本文的文献

Hereditary Angioedema with Normal C1 Inhibitor: an Updated International Consensus Paper on Diagnosis, Pathophysiology, and Treatment.C1 抑制剂正常的遗传性血管性水肿：关于诊断、病理生理学及治疗的国际最新共识文件

Clin Rev Allergy Immunol. 2025 Mar 7;68(1):24. doi: 10.1007/s12016-025-09027-4.

Variants and C1-INH Biological Function: A Close Relationship With C1-INH-HAE.变体与C1-INH生物学功能：与C1-INH相关性血管性水肿的密切关系

Front Allergy. 2022 Mar 31;3:835503. doi: 10.3389/falgy.2022.835503. eCollection 2022.

Searching for Genetic Biomarkers for Hereditary Angioedema Due to C1-Inhibitor Deficiency (C1-INH-HAE).寻找C1抑制剂缺乏所致遗传性血管性水肿（C1-INH-HAE）的遗传生物标志物。

Front Allergy. 2022 Jul 7;3:868185. doi: 10.3389/falgy.2022.868185. eCollection 2022.

Rediscovery of a forgotten disease: Hereditary Angioedema.一种被遗忘疾病的重新发现：遗传性血管性水肿。

Balkan Med J. 2021 Mar;38(2):68-72. doi: 10.5152/balkanmedj.2021.20030.

Biomarkers in Hereditary Angioedema.遗传性血管性水肿的生物标志物。

Clin Rev Allergy Immunol. 2021 Jun;60(3):404-415. doi: 10.1007/s12016-021-08845-6. Epub 2021 Feb 9.

Leveraging Genetics for Hereditary Angioedema: A Road Map to Precision Medicine.利用遗传学治疗遗传性血管性水肿：精准医学的路线图。

Clin Rev Allergy Immunol. 2021 Jun;60(3):416-428. doi: 10.1007/s12016-021-08836-7. Epub 2021 Jan 28.

In Search of an Association Between Genotype and Phenotype in Hereditary Angioedema due to C1-INH Deficiency.遗传性血管性水肿 C1-INH 缺乏症的基因型与表型相关性研究。

Clin Rev Allergy Immunol. 2021 Aug;61(1):1-14. doi: 10.1007/s12016-021-08834-9. Epub 2021 Jan 19.

The FXII c.-4T>C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant.由于FXII p.Thr328Lys变异导致遗传性血管性水肿患者中，FXII基因c.-4T>C多态性作为疾病修饰因素。

Front Genet. 2020 Sep 10;11:1033. doi: 10.3389/fgene.2020.01033. eCollection 2020.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验