RNASEH2B Antibody

1. Results implicate rare variants in the Aicardi-Goutieres syndrome genes ADAR and RNASEH2B and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis, consistent with a genetic basis underlying inflammation-driven malignant transformation in glioma and prostate carcinoma development. PMID: 29030706
2. This study reviewed that Neurologic Phenotypes Associated with Mutations in RNASEH2B in patients with Aicardi-Goutieres Syndrome. PMID: 27643693
3. Aicardi-Goutieres syndrome 2 is caused by mutations in the ribonuclease H2 subunit B gene RNASEH2B. PMID: 25906927
4. RNase H2 complex is assembled in the cytosol and imported into the nucleus in an RNase H2B-dependent manner. PMID: 24986920
5. A genome-wide search for homozygosity in Aicardi-Goutieres syndrome patients in the Faroe Islands revealed one single 15.6 Mb region of homozygosity on chromosome 13, which included RNASEH2B, where a splice site mutation c.322-3C>G was identified. PMID: 22882256
6. This study demonistrated that ribonuclease H2 mutation releated to Aicardi-Goutieres syndrome. PMID: 21862834
7. Congenital infection is seen with preserved neurological function, most frequently due to RNASEH2B mutations. PMID: 18422679
8. Examination of the effect of several Aicardi-Goutieres Syndrome-related mutations in the B subunit of RNase H2. PMID: 19015152
9. patients with genetic deficiency develop the spontaneous inflammatory myocarditis PMID: 19120481

Show More

Hide All

HGNC: 25671

OMIM: 610181

KEGG: hsa:79621

STRING: 9606.ENSP00000337623

UniGene: Hs.306291