RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.
|
31678772 |
2019 |
RNASEH2B
|
0.680 |
Biomarker
|
disease |
BEFREE |
RNASEH2B-related Aicardi-Goutières syndrome type 2 can have present with a variable phenotype, including idiopathic spastic cerebral palsy.
|
28762473 |
2017 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Patients carrying ADAR or RNASEH2B variants showed upregulation of interferon-stimulated gene (ISG) transcripts in peripheral blood as seen in AGS.
|
29030706 |
2017 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly.
|
26846091 |
2016 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Ribonuclease H2 mutations induce a cGAS/STING-dependent innate immune response.
|
26903602 |
2016 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability.
|
25274781 |
2015 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
|
26182405 |
2015 |
RNASEH2B
|
0.680 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
RNASEH2B
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
AGS is thought to arise from the accumulation of incompletely metabolized endogenous nucleic acid species owing to mutations in nucleic acid-degrading enzymes TREX1 (AGS1), RNase H2 (AGS2, 3 and 4), and SAMHD1 (AGS5).
|
26182405 |
2015 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
RNASEH2B
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
|
25243380 |
2014 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome.
|
25343331 |
2014 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.
|
25243380 |
2014 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR).
|
24183309 |
2013 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
|
22882256 |
2012 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
|
20131292 |
2010 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases.
|
19034401 |
2009 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Moreover, of five analyzed mutations in human RNASEH2B and RNASEH2C linked to Aicardi-Goutières Syndrome (AGS), only one, R69W in the RNASEH2C protein, exhibits a significant reduction in specific activity, revealing a role for the C subunit in enzymatic activity.
|
19015152 |
2009 |
RNASEH2B
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
|
17846997 |
2007 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate significant linkage to a second AGS locus (AGS2) at chromosome 13q14-21 with a maximum multipoint heterogeneity logarithm of the odds (LOD) score of 5.75 at D13S768.
|
15908569 |
2006 |
RNASEH2B
|
0.680 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
|
16845400 |
2006 |
RNASEH2B
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
|
16845400 |
2006 |
RNASEH2B
|
0.680 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|