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Practical challenges for functional validation of STAT1 gain of function genetic variants.

作者信息

Albuquerque Adriana S, Maimaris Jesmeen, McKenna Alexander J, Lambourne Jonathan, Moreira Fernando, Workman Sarita, Megy Karyn, Simeoni Ilenia, Lango Allen Hana, Morris Emma C, Burns Siobhan O

机构信息

Institute of Immunity and Transplantation, University College London, London, UK.

Department of Immunology, Royal Free London NHS Foundation Trust, London, UK.

出版信息

Clin Exp Immunol. 2023 Apr 25;212(2):166-169. doi: 10.1093/cei/uxad008.

DOI:10.1093/cei/uxad008
PMID:36722341
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10128160/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da2a/10128160/7082fc9b3f21/uxad008_fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da2a/10128160/7082fc9b3f21/uxad008_fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/da2a/10128160/7082fc9b3f21/uxad008_fig1.jpg

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本文引用的文献

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Take a Leap of Faith: Implement Routine Genetic Testing in Your Office.放下疑虑,在您的办公室常规开展基因检测。
J Allergy Clin Immunol Pract. 2022 Jul;10(7):1676-1687. doi: 10.1016/j.jaip.2022.05.017. Epub 2022 May 25.
2
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.对一组散发原发性免疫缺陷病例进行全基因组测序。
Nature. 2020 Jul;583(7814):90-95. doi: 10.1038/s41586-020-2265-1. Epub 2020 May 6.
3
Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity.与白细胞介素-17免疫先天性缺陷相关的慢性黏膜皮肤念珠菌病
Clin Transl Immunology. 2016 Dec 2;5(12):e114. doi: 10.1038/cti.2016.71. eCollection 2016 Dec.
4
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.杂合性信号转导和转录激活因子1(STAT1)功能获得性突变是一种临床表型出人意料广泛的疾病的基础。
Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25.
5
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.26例因信号转导和转录激活因子1(STAT1)功能获得性突变所致慢性黏膜皮肤念珠菌病患者的扩展临床表型
J Clin Immunol. 2016 Jan;36(1):73-84. doi: 10.1007/s10875-015-0214-9. Epub 2015 Nov 25.
6
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC).功能获得性 STAT1 突变会损害慢性黏膜皮肤念珠菌病(CMC)患者的 STAT3 活性。
Eur J Immunol. 2015 Oct;45(10):2834-46. doi: 10.1002/eji.201445344. Epub 2015 Sep 1.
7
Guidelines for investigating causality of sequence variants in human disease.人类疾病中序列变异因果关系研究指南。
Nature. 2014 Apr 24;508(7497):469-76. doi: 10.1038/nature13127.
8
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.功能获得性人类 STAT1 突变会损害 IL-17 免疫,并导致慢性黏膜皮肤念珠菌病。
J Exp Med. 2011 Aug 1;208(8):1635-48. doi: 10.1084/jem.20110958. Epub 2011 Jul 4.