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Identification of 19 Pathogenic Variants in a Clinically Heterogeneous Cohort W…

Mansoor(S),Abid(S),Imran(M),Malik(MI),Ali(Q)… Clin Genet 2026-08-00

...RNASEH2C, ABCB11, MPV17, IDUA, SMPD1, FBP1, SLC37A4, ACADM, and UGT1A1. Integrating genomic findings with clinical reass...

Non-enzymatic Rnaseh2c orchestrates proliferating macrophage-driven immunosuppr…

Wang(Z),Xiao(R),Liu(M),Ceng(L),Lin(Z),Zheng(… J Immunother Cancer 2026-04-15

...Rnaseh2c exhibits cancer-promoting effects in both macrophages and hepatocytes. We developed a specific inhibitor "Rnase...

Identification and validation of biomarkers related to mismatch repair for prog…

Feng(J),Si(Y),Han(L),Huang(Y),Jiang(L) Front Immunol None

...RNASEH2C, RPA3, TP73) was constructed. The risk score was an independent prognostic factor, with high-risk patients show...

Trio Whole Exome Sequencing in Chinese Childhood-Onset Lupus Reveals Novel Cand…

Ma(J),Qin(Y),Hong(SM),Ware(T),Hou(G),Tan(J),… Arthritis Rheumatol 2025-11-00

...RNASEH2C, and SAMHD1. Probands carried a median of one de novo, rare, coding variant. Intriguingly, although only two de...

RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-…

Pokatayev(Vladislav),Hasin(Naushaba),Chon(Hy… J Exp Med 2016-07-25

...Rnaseh2c-null mice. Importantly, we found that the G37S mutation led to increased expression of interferon-stimulated ge...

Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific I…

Cuadrado(Eloy),Michailidou(Iliana),van Bodeg… J Immunol 2015-06-11

...RNASEH2C, SAMHD1, ADAR1, or MDA5. Mutations in those genes affect normal RNA/DNA intracellular metabolism and detection,...

Characterization of human disease phenotypes associated with mutations in TREX1…

Crow(Yanick J),Chase(Diana S),Lowenstein Sch… Am J Med Genet A 2015-09-16

...RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families with mutations in these seven genes. Most p...

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome assoc…

Rice(Gillian I),Forte(Gabriella M A),Szynkie… Lancet Neurol 2014-01-14

...RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the sta...

Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome ass…

Vogt(Julie),Agrawal(Shakti),Ibrahim(Zala),So… Am J Med Genet A 2013-07-01

...RNASEH2C Asian founder mutation has previously only been identified in children with a severe AGS phenotype. Here, to ou...

The structure of the human RNase H2 complex defines key interaction interfaces …

Reijns(Martin A M),Bubeck(Doryen),Gibson(Luc… J Biol Chem 2011-06-09

...RNASEH2C C terminus and both are necessary to form a stable, enzymatically active heterotrimer. Disease mutations cluste...

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