| Depletion of RNASEH2 Activity Leads to Accumulation of DNA Double-strand Breaks and Reduced Cellular Survivability in T Cell Leukemia. | Depletion of RNASEH2 Activity Leads to Accumulation of DNA Double-strand Breaks and Reduced Cellular Survivability in T Cell Leukemia.
Ghosh D, Kumari S, Raghavan SC. | 06/11/2022 |
| RB1 loss overrides PARP inhibitor sensitivity driven by RNASEH2B loss in prostate cancer. | RB1 loss overrides PARP inhibitor sensitivity driven by RNASEH2B loss in prostate cancer.
Miao C, Tsujino T, Takai T, Gui F, Tsutsumi T, Sztupinszki Z, Wang Z, Azuma H, Szallasi Z, Mouw KW, Zou L, Kibel AS, Jia L., Free PMC Article | 04/23/2022 |
| Germline variation of Ribonuclease H2 genes in ovarian cancer patients. | Germline variation of Ribonuclease H2 genes in ovarian cancer patients.
Polaczek R, Schürmann P, Speith LM, Geffers R, Dürst M, Hillemanns P, Park-Simon TW, Liebrich C, Dörk T., Free PMC Article | 10/16/2021 |
| AGS mutations in this cluster impair the interaction of RNase H2 with several members of the CoREST chromatin-silencing complex that include the histone deacetylase HDAC2 and the demethylase KDM1A, the transcriptional regulators RCOR1 and GTFII-I as well as ZMYM3, an MYM-type zinc finger protein. | Aicardi-Goutières Syndrome associated mutations of RNase H2B impair its interaction with ZMYM3 and the CoREST histone-modifying complex.
Shapson-Coe A, Valeiras B, Wall C, Rada C., Free PMC Article | 12/7/2019 |
| 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. | Rare ADAR and RNASEH2B variants and a type I interferon signature in glioma and prostate carcinoma risk and tumorigenesis.
Beyer U, Brand F, Martens H, Weder J, Christians A, Elyan N, Hentschel B, Westphal M, Schackert G, Pietsch T, Hong B, Krauss JK, Samii A, Raab P, Das A, Dumitru CA, Sandalcioglu IE, Hakenberg OW, Erbersdobler A, Lehmann U, Reifenberger G, Weller M, Reijns MAM, Preller M, Wiese B, Hartmann C, Weber RG. | 06/16/2018 |
| This study reviewed that Neurologic Phenotypes Associated with Mutations in RNASEH2B in patients with Aicardi-Goutieres Syndrome. | Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières Syndrome and Beyond.
Livingston JH, Crow YJ. | 02/25/2017 |
| Aicardi-Goutieres syndrome 2 is caused by mutations in the ribonuclease H2 subunit B gene RNASEH2B. | Genetics and molecular biology of brain calcification.
Deng H, Zheng W, Jankovic J. | 03/12/2016 |
| RNase H2 complex is assembled in the cytosol and imported into the nucleus in an RNase H2B-dependent manner. | Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.
Kind B, Muster B, Staroske W, Herce HD, Sachse R, Rapp A, Schmidt F, Koss S, Cardoso MC, Lee-Kirsch MA. | 07/25/2015 |
| 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. | A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
Ostergaard E, Joensen F, Sundberg K, Duno M, Hansen FJ, Batbayli M, Sørensen N, Born AP. | 03/9/2013 |
| This study demonistrated that ribonuclease H2 mutation releated to Aicardi-Goutieres syndrome. | Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.
Izzotti A, Longobardi M, Cartiglia C, Anzuini F, Arrigo P, Fazzi E, Orcesi S, Piana RL, Pulliero A. | 05/19/2012 |
| patients with genetic deficiency develop the spontaneous inflammatory myocarditis | Crosstalk between components of the innate immune system: promoting anti-microbial defenses and avoiding immunopathologies.
Crozat K, Vivier E, Dalod M. | 01/21/2010 |
| Examination of the effect of several Aicardi-Goutieres Syndrome-related mutations in the B subunit of RNase H2. | Contributions of the two accessory subunits, RNASEH2B and RNASEH2C, to the activity and properties of the human RNase H2 complex.
Chon H, Vassilev A, DePamphilis ML, Zhao Y, Zhang J, Burgers PM, Crouch RJ, Cerritelli SM., Free PMC Article | 01/21/2010 |
| Congenital infection is seen with preserved neurological function, most frequently due to RNASEH2B mutations. | Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection.
Crow YJ, Livingston JH. | 01/21/2010 |