Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
出版年份 2016 全文链接
标题
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome
作者
关键词
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出版物
JOURNAL OF EXPERIMENTAL MEDICINE
Volume 213, Issue 7, Pages 1163-1174
出版商
Rockefeller University Press
发表日期
2016-06-21
DOI
10.1084/jem.20151529
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。- Type I interferonopathies: Mendelian type I interferon up-regulation
- (2015) Yanick J Crow CURRENT OPINION IN IMMUNOLOGY
- USP18 lack in microglia causes destructive interferonopathy of the mouse brain
- (2015) T. Goldmann et al. EMBO JOURNAL
- The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature
- (2015) Marije E. C. Meuwissen et al. GENETICS IN MEDICINE
- Immune-mediated viral clearance from the CNS without collateral damage
- (2015) Christoph Konradt et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation
- (2014) Xianqin Zhang et al. NATURE
- STING-Associated Vasculopathy with Onset in Infancy — A New Interferonopathy
- (2014) Yanick J. Crow et al. NEW ENGLAND JOURNAL OF MEDICINE
- Activated STING in a Vascular and Pulmonary Syndrome
- (2014) Yin Liu et al. NEW ENGLAND JOURNAL OF MEDICINE
- Aberrant fetal macrophage/microglial reactions to cytomegalovirus infection
- (2014) Makiko Sakao-Suzuki et al. Annals of Clinical and Translational Neurology
- USP18 establishes the transcriptional and anti-proliferative interferon α/β differential
- (2012) Véronique Francois-Newton et al. BIOCHEMICAL JOURNAL
- Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
- (2012) Gillian I Rice et al. NATURE GENETICS
- Lymphocytic Choriomeningitis Virus: An Underrecognized Cause of Neurologic Disease in the Fetus, Child, and Adult
- (2012) Daniel J. Bonthius Seminars in Pediatric Neurology
- Microcephaly with Simplified Gyration, Epilepsy, and Infantile Diabetes Linked to Inappropriate Apoptosis of Neural Progenitors
- (2011) Cathryn J. Poulton et al. AMERICAN JOURNAL OF HUMAN GENETICS
- NARWHAL, a primary analysis pipeline for NGS data
- (2011) R. W. W. Brouwer et al. BIOINFORMATICS
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- Interferon-Stimulated Gene 15 and the Protein ISGylation System
- (2010) Dongxian Zhang et al. JOURNAL OF INTERFERON AND CYTOKINE RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments
- (2009) S. A. Bustin et al. CLINICAL CHEMISTRY
- Fetal Infections and Brain Development
- (2009) James F. Bale CLINICS IN PERINATOLOGY
- Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity
- (2009) Y. J. Crow et al. HUMAN MOLECULAR GENETICS
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