Condition: Aicardi-Goutieres Syndrome 2


rs74555752 in RNASEH2B gene and Aicardi-Goutieres Syndrome 2 PMID 21177858 2011 The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects.

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 16845400 2006 Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

PMID 18754903 2008 Aicardi-Goutières syndrome: description of a late onset case.

PMID 26846091 2016 Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.

PMID 25274781 2015 Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability.

PMID 19034401 2009 RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases.

PMID 26182405 2015 Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.

PMID 19694776 2009 Elevated pterins in cerebral spinal fluid--biochemical marker of Aicardi-Goutières syndrome.

PMID 19015152 2009 Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.

PMID 25243380 2014 Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

PMID 28762473 2017 Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

PMID 25343331 2014 Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.