Ask about this productRelated genes to: RHBDF1 Blocking Peptide
- Gene:
- RHBDF1 NIH gene
- Name:
- rhomboid 5 homolog 1
- Previous symbol:
- C16orf8
- Synonyms:
- EGFR-RS, FLJ2235, Dist1, iRhom1
- Chromosome:
- 16p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-04-07
- Date modifiied:
- 2016-05-09
Related products to: RHBDF1 Blocking Peptide
Related articles to: RHBDF1 Blocking Peptide
- Idiopathic pulmonary fibrosis (IPF) is a progressive and debilitating respiratory disease with limited therapeutic options. Genetic association studies for IPF have identified several associations and probable effector genes that could not only help understanding IPF pathogenesis but also develop effective treatments. Assessing genetic overlap between IPF and severe COVID-19, an acute respiratory disease that can trigger pulmonary fibrosis, may reveal shared aetiology and mechanisms, thereby supporting the development of common treatments. - Source: PubMed
Publication date: 2025/11/28
Kousathanas AthanasiosOdhams Christopher ACook JamesHu YaoKlee StephanErzurumluoglu A MesutRamirez FidelMayr ChristophSchäfer DennisBeck LaraChrist IngridLee TaekyuTarr James ChristopherFesik Steven WDuboff JamesWirtz-Peitz FrederikMoutsianas LoukasBrown Matthew AKriegl JanOkafo GoergeJensen Jan NThomas Matthew JDing Zhihao - After long-term artificial selection and lineage mixing, the Danish Landrace pig (DLR), has developed characteristics such as a long body length, high lean meat rate, rapid growth rate, high litter size, and a longer gestation period, with an average gestation length of 117 days. However, the genes responsible for these desirable traits remain partly unknown. According to the breeding history of DLR pigs, it has undergone introgression from British Large White pigs (BLW), selection for high lean meat rate and long body length within the population, and a rapid improvement in reproductive performance since 1992. Research on Danish Duroc and Large White pigs has detected that the lineage of pigs in Taihu Lake region (TL) has introgressed into these two breeds. Therefore, we performed resequencing and chip scanning on 106 TL pigs and 557 DLR pigs, and downloaded 163 resequencing data from Eurasian pigs for shared haplotype analysis, selective sweep analysis, and GWAS. - Source: PubMed
Publication date: 2025/09/29
Chen JianmeiHuang RuihuaMa JinfengSu GuoshengHuang MinZhou WuduoLiu ChenxiLiu QianLi PinghuaZhao Qingbo - Glioblastoma (GBM) is the most common and aggressive primary malignant brain tumor in adults, yet effective therapeutic strategies remain limited. A comprehensive exploration of brain proteomic profiles may offer new insights into GBM pathogenesis and treatment. - Source: PubMed
Publication date: 2025/07/10
Li JunhongYuan YunboHe YuzeWang ZhihaoChen SiliangLi WenhaoRen HaoOu YuhangZeng YunhuiYang WanchunLiu Yanhui - Papillary thyroid cancer (PTC) is the most common endocrine cancer, with a good prognosis in most cases. However, aggressive PTC can metastasise or reoccur and become refractory disease. Therefore, it's urgent to uncover new biomarkers for aggressive PTC. Accumulating evidence suggests that aberrant enhancers and targeted gene transcription drive the progression of PTC. To identify the cancer-specific enhancers and their downstream genes in PTC, we profiled the transcriptomes (RNA-seq) and enhancer-based epigenomic reorganisation (ChIP-seq) of cancer tissues and matched normal tissues from three PTC patients. Importantly, six candidate genes (RHBDF1, FAM20C, PHLDA2, TMPRSS6, LAD1, and BGN) were identified to be consistently upregulated by enhancers in PTC and correlated with prognosis. Further experiments verified the function of enhancers governing FAM20C in regulating PTC tumorigenesis, thereby unveiling a FAM20C-governed oncogenic mechanism for suppressing two cytokines (TNF-α and TGF-β) in PTC. Additionally, we demonstrated that a FAM20C inhibitor (3r) suppressed the proliferation and invasion of thyroid cancer cells in vitro and vivo. Moreover, FAM20C is driven by KLF12 through its enhancer. Collectively, our study uncovers the potential correlations between the aberrant activation of cancer-specific enhancers and PTC tumorigenesis and identifies FAM20C as a novel target for PTC. - Source: PubMed
Publication date: 2025/06/30
Ruan XianhuiZhang WeiHou XiukunFu GuimingMa WeikeHuang JianfengQian YuyangTian MengranQin NanChen YupengGao MingLi DapengZheng Xiangqian - Mutations in adult hemoglobin alpha genes in humans lead to blood disorders commonly known as α-thalassemia. In search of a mouse model for this disease, mutagenesis screens have identified several deletions that resemble these phenotypes. The Hba deletion, in particular, replicates the characteristics of alpha-thalassemia minor in heterozygous mice but presents a homozygous embryonic lethal phenotype. Previous analyses of Hba mice suggested that the deletion affects both Hba genes (Hba-a1 and Hba-a2) and considered epidermal growth factor receptor (Egfr) or rhomboid 5 homolog 1 (Rhbdf1) to be responsible for the embryonic lethality. Molecular analysis of Hba revealed a deletion spanning a 1 cM region of mouse chromosome 11. Importantly, the Hba deletion does not extend to Egfr, indicating that the observed lethality of homozygous embryos is not due to the loss of Egfr. Sequence analysis of the Hba deletion showed that the Hba-a2 gene is not deleted, but the lack of expression is likely due to the disruption of upstream regulatory regions. Furthermore, we identify Snrnp25, which codes for the small nuclear ribonucleoprotein 25 (U11/U12), as the candidate gene most likely responsible for the peri-implantation lethality of Hba homozygous mice. These findings enhance the understanding of the genetic mechanisms underlying α-thalassemia and provide insights into novel genes essential for early mammalian development. - Source: PubMed
Publication date: 2025/05/21
Velásquez-Escobar Ana MaríaHillhouse Andrew EMagnuson TerryThreadgill David W