Aicardi–Goutières syndrome and the type I interferonopathies
YJ Crow, N Manel - Nature Reviews Immunology, 2015 - nature.com
Dissection of the genetic basis of Aicardi–Goutières syndrome has highlighted a
fundamental link between nucleic acid metabolism, innate immune sensors and type I …
fundamental link between nucleic acid metabolism, innate immune sensors and type I …
Type I interferon in rheumatic diseases
TLW Muskardin, TB Niewold - Nature reviews rheumatology, 2018 - nature.com
The type I interferon pathway has been implicated in the pathogenesis of a number of
rheumatic diseases, including systemic lupus erythematosus, Sjögren syndrome, myositis …
rheumatic diseases, including systemic lupus erythematosus, Sjögren syndrome, myositis …
CRISPR-Cas9 knockin mice for genome editing and cancer modeling
CRISPR-Cas9 is a versatile genome editing technology for studying the functions of genetic
elements. To broadly enable the application of Cas9 in vivo, we established a Cre …
elements. To broadly enable the application of Cas9 in vivo, we established a Cre …
Janus kinase inhibition in the Aicardi–Goutières syndrome
JAK Inhibition in the Aicardi–Goutières Syndrome Patients with the Aicardi–Goutières
syndrome, an autosomal recessive disorder that affects the central nervous system, immune …
syndrome, an autosomal recessive disorder that affects the central nervous system, immune …
[HTML][HTML] cGAS phase separation inhibits TREX1-mediated DNA degradation and enhances cytosolic DNA sensing
Summary Cyclic GMP-AMP synthase (cGAS) recognition of cytosolic DNA is critical for the
immune response to cancer and pathogen infection. Here, we discover that cGAS-DNA …
immune response to cancer and pathogen infection. Here, we discover that cGAS-DNA …
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase… - American journal of …, 2015 - Wiley Online Library
Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …
TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 …
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
GI Rice, PR Kasher, GMA Forte, NM Mannion… - Nature …, 2012 - nature.com
Adenosine deaminases acting on RNA (ADARs) catalyze the hydrolytic deamination of
adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the …
adenosine to inosine in double-stranded RNA (dsRNA) and thereby potentially alter the …
Losing DNA methylation at repetitive elements and breaking bad
Background DNA methylation is an epigenetic chromatin mark that allows heterochromatin
formation and gene silencing. It has a fundamental role in preserving genome stability …
formation and gene silencing. It has a fundamental role in preserving genome stability …
Cutting edge: cGAS is required for lethal autoimmune disease in the Trex1-deficient mouse model of Aicardi–Goutières syndrome
EE Gray, PM Treuting, JJ Woodward… - The Journal of …, 2015 - journals.aai.org
Detection of intracellular DNA triggers activation of the stimulator of IFN genes–dependent
IFN-stimulatory DNA (ISD) pathway, which is essential for antiviral immune responses …
IFN-stimulatory DNA (ISD) pathway, which is essential for antiviral immune responses …
The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology points to consider for diagnosis and management of …
Objective Autoinflammatory type I interferonopathies, chronic atypical neutrophilic
dermatosis with lipodystrophy and elevated temperature/proteasome-associated …
dermatosis with lipodystrophy and elevated temperature/proteasome-associated …