|
Prostate carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Co-transfection of cdk activating kinase (CAK), the kinase moiety of TFIIH, enhanced AR-mediated transcription in a ligand-dependent manner in human prostate cancer PC-3 and LNCaP cells, and in a ligand-independent manner in human prostate cancer DU145 cells.
|
10734072 |
2000 |
|
Hepatocarcinogenesis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Because HBx binds to TFIIH-associated proteins, we propose that HBx may interfere with the NER pathway also through binding to and altering the activities of helicases necessary for NER and, thereby, increase the mutation rate induced by chemical carcinogens, such as aflatoxin B1, during human liver carcinogenesis.
|
10074921 |
1999 |
|
Dermatologic disorders
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Mutations in the DNA binding region of XPA were from patients with the more severe disease often associated with neurological complications, whereas mutations in the C-terminal end of the protein, which interacts with the TFIIH transcription factor, were from patients with milder skin disease only.
|
9671271 |
1998 |
|
Xeroderma pigmentosum, group A
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The transfectant overexpressing mutant XPA with a defect in the interaction with either ERCC1, replication protein A (RPA), or general transcription factor TFIIH, showed more or less decreased repair of CPD in each strand in parallel, while in the transfectant overexpressing R207G (Arg207to Gly) mutant XPA derived from XP129, a UV-resistant XP12ROSV revertant, the rate of CPD repair was almost normal in each strand.
|
9753735 |
1998 |
|
Failure to Thrive
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Other CS features thought to involve the functioning of basal transcription/repair factor TFIIH, such as growth failure and neurologic dysfunction, are present in mild form.
|
9150142 |
1997 |
|
Spinal Muscular Atrophy
|
0.010 |
Biomarker
|
disease |
BEFREE |
The TFIIH polypeptide composition as well as transcription and DNA repair activities are normal in patients lacking the p44t gene on both mutant chromosomes, suggesting that the p44t gene is not critical for the development of SMA.
|
8981949 |
1997 |
|
HMN (Hereditary Motor Neuropathy) Proximal Type I
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease.
|
8981949 |
1997 |
|
Growth failure
|
0.010 |
AlteredExpression
|
phenotype |
BEFREE |
Other CS features thought to involve the functioning of basal transcription/repair factor TFIIH, such as growth failure and neurologic dysfunction, are present in mild form.
|
9150142 |
1997 |
|
Neoplasm Metastasis
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
We have demonstrated that the overexpression of TFIIH correlates positively with node metastasis, while XPF correlates negatively with node metastasis; therefore, the expression of XPF and TFIIH had a potential value for predicting the progression of OTSCC patients.
|
31828418 |
2020 |
|
Neoplasm Metastasis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
In low income countries, Time to diagnosis (TTD: interval between first symptom and diagnosis) has been associated with extraocular disease, metastasis and mortality.
|
31014139 |
2019 |
|
Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
The NIR-regulated UCNP@TTD-cRGD NPs that were developed could selectively light up the targeted cancer cells and significantly inhibit tumor growth during the NIR-regulated PDT treatment as compared with the cells under white light excitation.
|
30662565 |
2019 |
|
Xeroderma pigmentosum, group B
|
0.020 |
Biomarker
|
disease |
BEFREE |
Xeroderma Pigmentosum group B (XPB) and group D (XPD) are important helicases in NER and are also critical subunits of TFIIH complex.
|
29959982 |
2018 |
|
Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Our data further imply that dPWP1 acts synergistically with mTOR signaling to regulate the nucleolar localization of TFIIH, a known elongation factor of Pol I. Ribosome biogenesis is often deregulated in cancer, and we demonstrate that high PWP1 levels in human head and neck squamous cell carcinoma tumors are associated with poor prognosis.
|
29065309 |
2017 |
|
Hamartoma Syndrome, Multiple
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the XPG-TFIIH complex is involved in transcription elongation and that defects in this association may partly account for Cockayne syndrome in XP-G/CS patients.
|
26149386 |
2015 |
|
Cortical cataract
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that the XPG-TFIIH complex is involved in transcription elongation and that defects in this association may partly account for Cockayne syndrome in XP-G/CS patients.
|
26149386 |
2015 |
|
Colorectal Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
First-line cetuximab plus capecitabine in elderly patients with advanced colorectal cancer: clinical outcome and subgroup analysis according to KRAS status from a Spanish TTD Group Study.
|
22363067 |
2012 |
|
Malignant neoplasm of colon and/or rectum
|
0.020 |
Biomarker
|
disease |
BEFREE |
First-line cetuximab plus capecitabine in elderly patients with advanced colorectal cancer: clinical outcome and subgroup analysis according to KRAS status from a Spanish TTD Group Study.
|
22363067 |
2012 |
|
Colorectal Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
TTD consensus document on the diagnosis and management of hereditary colorectal cancer.
|
20466620 |
2010 |
|
Malignant neoplasm of colon and/or rectum
|
0.020 |
Biomarker
|
disease |
BEFREE |
TTD consensus document on the diagnosis and management of hereditary colorectal cancer.
|
20466620 |
2010 |
|
Malignant neoplasm of skin
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Since TFIIH is a repair/transcription factor, TTD-specific alterations of TFIIH possibly result in transcriptional defects, which might be implication for the lack of increased incidence of skin cancers in TTD patients.
|
18817897 |
2008 |
|
Malignant neoplasm of skin
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
In contrast, in TTD, low levels of unstable TFIIH proteins do not accumulate at sites of unrepaired photoproducts and may permit normal translesion DNA synthesis without increased skin cancer.
|
18470933 |
2008 |
|
Hamartoma Syndrome, Multiple
|
0.020 |
Biomarker
|
disease |
BEFREE |
Mutations in XPG found in XP-G/CS patient cells that prevent the association with TFIIH also resulted in the dissociation of CAK and XPD from the core TFIIH.
|
17466625 |
2007 |
|
Cortical cataract
|
0.020 |
Biomarker
|
disease |
BEFREE |
Mutations in XPG found in XP-G/CS patient cells that prevent the association with TFIIH also resulted in the dissociation of CAK and XPD from the core TFIIH.
|
17466625 |
2007 |
|
Xeroderma pigmentosum, group B
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.
|
8663148 |
1996 |
|
Carcinogenesis
|
0.030 |
Biomarker
|
phenotype |
BEFREE |
In this review, we will be exploring the new insights in scientific research on the functioning of the NER pathway, the role of TFIIH as the central complex of NER, the pivotal helicase XPD as the lynchpin of NER and the effects of various single nucleotide polymorphisms (SNPs) of XPD on its functioning and their consequent role in colorectal carcinogenesis.
|
29616226 |
2018 |