Ask about this productRelated genes to: GTF2H4 antibody
- Gene:
- GTF2H4 NIH gene
- Name:
- general transcription factor IIH subunit 4
- Previous symbol:
- -
- Synonyms:
- TFB2, TFIIH, P52
- Chromosome:
- 6p21.33
- Locus Type:
- gene with protein product
- Date approved:
- 1998-08-19
- Date modifiied:
- 2016-10-05
Related products to: GTF2H4 antibody
Related articles to: GTF2H4 antibody
- Hepatocellular carcinoma (HCC), as a cancer with high morbidity and mortality, urgently requires the development of a clinical prediction model with high robustness and generalizability and its prognostic study of the tumor microenvironment to provide personalized clinical treatment for patients. Key prognostic genes were screened by analyzing mRNA expression data from GTEx and The Cancer Genome Atlas (TCGA) using limma difference analysis, Cox analysis, and machine learning (ML) algorithms. TCGA database was used as a training set, and the International Cancer Genome Consortium database was used as a test set to screen the best prognostic modeling algorithms using a combination of 101 ML algorithms for training and constructing Nomo score plots based on the algorithmic risk scores as well as Shiny online prediction models. Based on shapley additive explanations analysis, drug sensitivity analysis, and immune infiltration analysis were performed on the 6 genes screened to visualize the importance of prognostic genes. HCC tumor mutation load analysis was also performed. A risk prediction model for HCC death was developed based on the RSF algorithm, with an RSF model C-index of 0.765 and AUC values of 0.978, 0.989, and 0.964 for 1-, 3-, and 5-year ROC curves for the Nomo score model, respectively. LPL, RAET1E, RNASEH2A, GTF2H4, SCML2, and PRDM12 were potential diagnostic and prognostic markers, among which SCML2 and PRDM12 were significantly correlated with multiple drugs in drug sensitivity analysis.TP53 mutations were correlated with patients' age, chronological age, gender, histological tumor stage, T stage, and lymph node metastasis. An online HCC mortality risk prediction model was developed using the RSF algorithm. LPL, RAET1E, RNASEH2A, GTF2H4, SCML2, and PRDM12 are potential prognostic target genes, whereas TP53 mutations are associated with clinical features that may inform the development of HCC therapy. - Source: PubMed
Wang JiamingShen TongpingWang Shihao - Few drugs are available for rare diseases due to economic disincentives. However, tailored medications for extremely rare disorders (N-of-1) offer a ray of hope. Artificial antisense oligonucleotides (ASOs) are now best known for their use in spinal muscular atrophy (SMA). The success of nusinersen/Spinraza for SMA indicates the potential of ASO therapies for other rare conditions. We propose a strategy to develop N-of-1 ASOs for treating one form of trichothiodystrophy (TTD), a rare condition with multisystem abnormalities and reduced life expectancy, associated with instability and greatly reduced amounts of the DNA-repair/transcription factor TFIIH. The therapeutic targets carry mutations in GTF2H5, encoding the TFIIH-p8 subunit. This approach was inspired by the diagnosis and molecular dissection of a xeroderma pigmentosum (XP) case with mutations in GTF2H4, encoding the TFIIH-p52 subunit. This is newly classified as a ninth XP complementation-group, XP-J, identified 5 decades after the discovery of the other XP complementation-groups. The p8-p52 interaction is required to support the TFIIH-complex formation, and the patient's p52 C-terminal truncation results in the complete absence of p8 in TFIIH. However, intriguingly, TFIIH remained stable in vivo, and the patient with XP-J did not exhibit any TTD-features. The aim of our ASO-design is to induce a C-terminal truncation of p52 and we have successfully stabilized TFIIH in p8-deficient cells from patients with TTD-A. - Source: PubMed
Publication date: 2025/09/09
Nakazawa YukaYe LinOka YasuyoshiMorinaga HironobuKato KanaShimada MayukoTsukada KotaroTsujikawa KoyoNishio YosukeFassihi HivaMohammed ShehlaLehmann Alan ROgi Tomoo - - Source: PubMed
Publication date: 2025/09/09
Fassihi HivaMohammed ShehlaNakazawa YukaFawcett HeatherTurner SallyPalfrey JoanneGarrood IsabelAbiona AdesojiMorley Ana MsShimada MayukoKato KanaLehmann Alan ROgi Tomoo - Autoimmune diseases exhibit familial clustering and co-occurrence, suggesting the presence of shared genetic risk factors. However, the overlapping genetic factors across these diseases have yet to be fully elucidated. This study aimed to identify shared genetic factors across five autoimmune diseases: systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), ankylosing spondylitis (AS), Sjögren's syndrome (SS), and polymyalgia rheumatica (PMR). A blood tissue-based transcriptome-wide association study (TWAS) was conducted to identify candidate genes. Bayesian colocalization analysis was employed to pinpoint genetic variants shared across diseases. Multiomics summary data-based Mendelian randomization (SMR) was used to identify causal risk genes, while transcriptomic analysis, gene set variation analysis (GSVA), and weighted gene coexpression network analysis (WGCNA) were applied to further investigate the functional roles of these genes. The TWAS identified 78 candidate genes across the five autoimmune diseases. Bayesian colocalization analysis revealed five genes, GTF2H4, FLOT1, HCP5, IER3, and STK19, that share genetic variants across these disorders. Specifically, RA and AS shared independent variants of GTF2H4 (rs2230365 and rs147708689, respectively). HCP5 variants were shared with SS (rs1800628) and SLE (rs1150757), and rs1800628 was also identified as a shared locus in FLOT1 for SLE. SMR analysis highlighted FLOT1 as a strong causal risk gene for SLE. Transcriptomic analysis showed that FLOT1 is highly expressed in T cells and platelets, with involvement in multiple metabolic pathways. WGCNA identified four key neighboring genes, EHD1, SLC10A3, LMNA, and STXBP2, associated with FLOT1. This study uncovers shared genetic factors across five autoimmune diseases, with FLOT1 identified as a novel causal risk gene for SLE. These findings suggest that platelet-mediated pathogenic mechanisms may contribute to SLE, providing a potential target for future therapeutic interventions. - Source: PubMed
Publication date: 2025/06/24
Fu LeihuaYu JieniWang XinChen ZheSun JiayingGao FeidanZhang ZhijianFu JiapingHong PanFeng Weiying - To investigate the genetic and expression characteristics of transcription factor IIH (TFIIH) in pre-initiationcomplex in prostate cancer (PCa) and its relationship with prostate cancer progression. Analyzing the expression characteristics and clinical signification of TFIIH subunits about 495 cases of PCa and 52 cases of adjacent cancer in The Cancer Genome Atlas-Prostate adenocarcinoma (TCGA-PRAD) database. PCa microarray chip was used to verify the correlation between the key factor General Transcription Factor IIH Subunit 4 (GTF2H4) in TFIIH and clinical features. The 495 patients with PCa were (61.01±6.82) years old.The mRNA expression of ERCC3、GTF2H4 and MNAT1 were high in PCa tissues with GS≥8(<0.05). The expression of GTF2H4 and MNAT1 were relevant to the pathological stages(<0.05). High expression of GTF2H4 has higher biochemical recurrence (BCR) rate in PCa patients(=2.47, 95%:1.62-3.77, <0.001), which has better predictive effect of BCR in PCa patients(The 3rd, 5th, and 7th year AUC all>0.7) than other subunits, and it has been verified in four additional databases. Single-factor Cox regression analysis showed that GTF2H4 were risk factors for BCR (=2.470, 95%:1.620-3.767, <0.001) and GTF2H5 were protective factors(=0.506,95%: 0.336-0.762, =0.001). The results of immunohistochemical staining showed that the protein expression of GTF2H4 was correlated with the clinical features of PCa patients.The differences of the above results were statistically significant. GTF2H4, the key factor of TFIIH, is highly expressed in PCa and indicates a poor prognosis. - Source: PubMed
Li J CZhu X JYe J HTan Z HCai S HDeng Y LChen JTian W CLuo D HZhong W D