Ask about this productRelated genes to: RNASEH2C antibody
- Gene:
- RNASEH2C NIH gene
- Name:
- ribonuclease H2 subunit C
- Previous symbol:
- -
- Synonyms:
- AYP1, AGS3
- Chromosome:
- 11q13.1
- Locus Type:
- gene with protein product
- Date approved:
- 2006-08-17
- Date modifiied:
- 2019-04-23
Related products to: RNASEH2C antibody
Related articles to: RNASEH2C antibody
- Tumor-associated macrophages are pivotal drivers of hepatocellular carcinoma (HCC) progression. However, the functional contributions of proliferating macrophages (Prolif Ms) within the tumor microenvironment (TME) remain poorly defined. - Source: PubMed
Publication date: 2026/04/15
Wang ZengbinXiao RuiyingLiu MengxinCeng LihuaLin ZikunZheng XinyuShi MiaoxinYe HongWu LinqingTang Nanhong - Inborn errors of metabolism (IEM) are frequently underdiagnosed in low-resource settings due to limited diagnostic infrastructure. We hypothesized that an integrated clinical-genomic approach could improve diagnosis and management of these conditions. Nineteen Pakistani families with clinically suspected IEM underwent systematic clinical assessment, available biochemical testing, and whole-exome sequencing (WES). Variants were classified according to ACMG/AMP guidelines using evidence from population databases, in silico prediction tools, segregation analysis, and genotype-phenotype correlation. Clinical diagnoses and management strategies were reassessed based on molecular findings. WES provided a molecular diagnosis in 90% (17/19) of families and enabled targeted therapeutic interventions in 70% (13/19). However, clinical outcomes were variable due to advanced disease in some cases and limited follow-up. Seven novel variants were identified in CYP27B1, DYM, MTTP, ALDH3A2, USP53, BRAF, and JAG1, while twelve recurrent mutations were detected in PIGN, GCDH, CLCN7, RNASEH2C, ABCB11, MPV17, IDUA, SMPD1, FBP1, SLC37A4, ACADM, and UGT1A1. Integrating genomic findings with clinical reassessment improved diagnostic precision. An integrated clinical-genomic approach enabled accurate diagnosis of pediatric IEM in resource-limited settings, with particular utility in children with metabolic disorders in a consanguineous population. Identification of both novel and recurrent variants expanded the genotypic and phenotypic spectrum of these disorders and highlighted the clinical utility of genomic diagnostics in optimizing patient care. - Source: PubMed
Publication date: 2026/04/13
Mansoor SumreenaAbid SabeenImran MuhammadMalik Munir IqbalAli QamarHussain ShanawazAli Hafiz AsimMasood YasserChoudhry ShehlaQamar RaheelAzam Maleeha - Aicardi-Goutières syndrome (AGS) is a rare, genetically-determined spectrum of neurodegenerative disorders that remains poorly understood. Owing to the paucity of data from Middle-Eastern population, we aimed to delineate the clinical, radiological, and genetic features of AGS in an under-represented Middle-Eastern cohort. - Source: PubMed
Publication date: 2026/03/16
Alwalid OsamahSubhi Marwa AlSerhan Ala Aldeen AlAbdulwahhab Saja BSamran ElhamThabet FarouqBenini RubaAlRayahi Jehan - Macrophage antigen presentation is crucial for adaptive immunity and maintaining immune balance, including anti-infection, anti-tumor, and inflammation regulation. However, its role in tumor immunomodulation is less understood compared to macrophage polarization. This study explored how Rnaseh2c macrophages influence hepatocellular carcinoma (HCC) progression using in vitro cell models and mouse tumor models. Single-cell RNA sequencing, immunoblotting, immunofluorescence, immunoprecipitation, and flow cytometry analysis were employed to examine RNASEH2C's impact on macrophage antigen presentation. Our results indicated that Rnaseh2c macrophages, which were non-polarized, promoted HCC growth by inhibiting antigen presentation. RNASEH2C facilitated lysosomal degradation of RAI14 by enhancing TRAF3IP1 expression and suppressing the mTOR pathway, with HSC70 and CMTM6 playing opposing roles in RAI14 degradation. RAI14, a skeleton protein, facilitated the macropinocytosis of MHC II molecules and tumor-associated antigen, thus activating Th1 cells in HCC. In conclusion, our study revealed how RNASEH2C mediated RAI14's lysosomal degradation, offering potential targets and strategies for HCC immunotherapy. - Source: PubMed
Publication date: 2025/12/08
Pan BanglunYu HuahuiLin ZikunLiu MengxinLiu JiayuXu YiqingWu LinqingZhang QiuyuWang Zengbin - Systemic lupus erythematosus (SLE) is an autoimmune disease in which rare and common gene variants contribute to pathogenesis. Severe sporadic disease in children is often explained by "de novo" variants that can be uncovered by trio sequencing. - Source: PubMed
Publication date: 2025/07/21
Ma JianyangQin YutingHong Soon-MinWare ThuvarakaHou GuojunTan JingjingXie ChengmeiZhang PingjingWu XiaoqianArsov TodorCao LanfangAndrews T DanielWu PhilipShen QianDing HuihuaShen NanVinuesa Carola GHe Yuke