Condition: AICARDI-GOUTIERES SYNDROME
rs145588689 in
ADAR gene and
AICARDI-GOUTIERES SYNDROME
PMID 24262145 2014 A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.
PMID 23001123 2012 Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
rs77103971 in
RNASEH2A;HOOK2 gene and
AICARDI-GOUTIERES SYNDROME
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
PMID 23592335 2013 Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
PMID 21454563 2011 Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
rs75184679 in
RNASEH2B gene and
AICARDI-GOUTIERES SYNDROME
PMID 25274781 2015 Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability.
PMID 16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
PMID 19034401 2009 RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases.
PMID 25604658 2015 Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
PMID 20131292 2010 Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
PMID 25343331 2014 Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.
PMID 25243380 2014 Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
PMID 17846997 2007 Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
PMID 26903602 2016 Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.
PMID 26846091 2016 Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
rs138603088 in
SAMHD1 gene and
AICARDI-GOUTIERES SYNDROME
PMID 30275001 2018 Combination of exome sequencing and immune testing confirms Aicardi-Goutières syndrome type 5 in a challenging pediatric neurology case.
PMID 20653736 2010 Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.
PMID 27604406 2016 The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome.
PMID 21204240 2011 Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus.
PMID 19525956 2009 Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.
PMID 22461318 2012 SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
PMID 28229507 2017 A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.