RNASEH2C gene

Known as: AGS3, RIBONUCLEASE H2, SUBUNIT C, Aicardi-Goutieres syndrome 3 
 
National Institutes of Health

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AICARDI-GOUTIERES SYNDROME 3

Papers overview

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Review
2018
Review
2018
p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Goutières syndrome.
Aicardi-Goutières syndrome is an early-onset severe neurological disorder characterized by intracranial calcification, white… (More)
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Review
2018
Review
2018
Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.
BACKGROUND Aicardi-Goutières syndrome is a rare genetic neurological disorder with variable clinical manifestations. Molecular… (More)
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2017
2017
Antisense transcription regulates the expression of sense gene via alternative polyadenylation
Natural antisense transcripts (NAT) and alternative polyadenylation (APA) of messenger RNA (mRNA) are important contributors of… (More)
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2017
2017
Confirmation of five novel susceptibility loci for systemic lupus erythematosus (SLE) and integrated network analysis of 82 SLE susceptibility loci.
We recently identified ten novel SLE susceptibility loci in Asians and uncovered several additional suggestive loci requiring… (More)
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Review
2017
Review
2017
MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum.
In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early… (More)
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2013
2013
Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.
Aicardi-Goutières syndrome (AGS) is an encephalopathy of early childhood which is most commonly inherited as an autosomal… (More)
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2013
2013
Increased expression of AGS3 in rat brain cortex after traumatic brain injury.
Receptor-independent activators of G protein signaling (AGS) offer alternative modes of signal processing for the G protein… (More)
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2011
2011
Clinical heterogeneity among a three-generation Japanese family with D18N TREX1 mutation for Aicardi-Goutières syndrome / familial chilblain lupus
Background Aicardi-Goutières syndrome (AGS) is a genetic disease, characterized by encephalopathy with cerebral calcification… (More)
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2009
2009
Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex
Eukaryotic RNase H2 is a heterotrimeric enzyme. Here, we show that the biochemical composition and stoichiometry of the human… (More)
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Highly Cited
2007
Highly Cited
2007
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral… (More)
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