Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
出版年份 2014 全文链接
标题
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
作者
关键词
-
出版物
NATURE GENETICS
Volume 46, Issue 5, Pages 503-509
出版商
Springer Nature
发表日期
2014-04-01
DOI
10.1038/ng.2933
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Autoimmune Disorders Associated with Gain of Function of the Intracellular Sensor MDA5
- (2014) Masahide Funabiki et al. IMMUNITY
- Identification of an LGP2-associated MDA5 agonist in picornavirus-infected cells
- (2014) Safia Deddouche et al. eLife
- Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: A meta-analysis
- (2013) Han Cen et al. AUTOIMMUNITY
- Therapies in Aicardi-Goutières syndrome
- (2013) Y. J. Crow et al. CLINICAL AND EXPERIMENTAL IMMUNOLOGY
- Cytosolic Sensing of Viruses
- (2013) Delphine Goubau et al. IMMUNITY
- A type I interferon signature identifies bilateral striatal necrosis due to mutations inADAR1
- (2013) John H Livingston et al. JOURNAL OF MEDICAL GENETICS
- Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
- (2013) Gillian I Rice et al. LANCET NEUROLOGY
- Structural Basis for dsRNA Recognition, Filament Formation, and Antiviral Signal Activation by MDA5
- (2012) Bin Wu et al. CELL
- Endogenous retroelements and autoimmune disease
- (2012) Daniel B Stetson CURRENT OPINION IN IMMUNOLOGY
- Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
- (2012) Gillian I Rice et al. NATURE GENETICS
- Kinetic mechanism for viral dsRNA length discrimination by MDA5 filaments
- (2012) A. Peisley et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Type I interferonopathies: a novel set of inborn errors of immunity
- (2011) Yanick J. Crow Annals of the New York Academy of Sciences
- Ifih1 Gene Dose Effect Reveals MDA5-Mediated Chronic Type I IFN Gene Signature, Viral Resistance, and Accelerated Autoimmunity
- (2011) S. P. Crampton et al. JOURNAL OF IMMUNOLOGY
- Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
- (2011) Tracy A Briggs et al. NATURE GENETICS
- Cooperative assembly and dynamic disassembly of MDA5 filaments for viral dsRNA recognition
- (2011) A. Peisley et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Dyschromatosis symmetrica hereditaria associated with neurological disorders
- (2010) Taisuke KONDO et al. JOURNAL OF DERMATOLOGY
- Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
- (2009) Y. J. Crow et al. HUMAN MOLECULAR GENETICS
- Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
- (2009) Gillian I Rice et al. NATURE GENETICS
- Rare Variants of IFIH1, a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes
- (2009) S. Nejentsev et al. SCIENCE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now