Mutations in CECR1 associated with a neutrophil signature in peripheral blood
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Title
Mutations in CECR1 associated with a neutrophil signature in peripheral blood
Authors
Keywords
Adenosine deaminase, ADA2, CECR1, Neutrophil signature, Type I interferon, Aicardi-Goutières syndrome, SAMHD1
Journal
Pediatric Rheumatology
Volume 12, Issue 1, Pages 44
Publisher
Springer Nature
Online
2014-09-24
DOI
10.1186/1546-0096-12-44
References
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Related references
Note: Only part of the references are listed.- Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy
- (2014) Nisha Garg et al. EUROPEAN JOURNAL OF PEDIATRICS
- Early-Onset Stroke and Vasculopathy Associated with Mutations in ADA2
- (2014) Qing Zhou et al. NEW ENGLAND JOURNAL OF MEDICINE
- Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa Vasculopathy
- (2014) Paulina Navon Elkan et al. NEW ENGLAND JOURNAL OF MEDICINE
- β2 Integrin-mediated Cell-Cell Contact Transfers Active Myeloperoxidase from Neutrophils to Endothelial Cells
- (2013) Uwe Jerke et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- 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
- Differential gene and transcript expression analysis of RNA-seq experiments with TopHat and Cufflinks
- (2012) Cole Trapnell et al. Nature Protocols
- Purinergic Signaling during Inflammation
- (2012) Holger K. Eltzschig et al. NEW ENGLAND JOURNAL OF MEDICINE
- HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase
- (2011) David C. Goldstone et al. NATURE
- Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations
- (2011) M. du Moulin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke
- (2011) B. Xin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis
- (2010) VENKATESWARAN RAMESH et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression
- (2010) Holger Thiele et al. HUMAN MUTATION
- Differential expression analysis for sequence count data
- (2010) Simon Anders et al. GENOME BIOLOGY
- Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
- (2009) Gillian I Rice et al. NATURE GENETICS
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