Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Amino acid sequence analysis of the tryptic digest generated from the 89-kilodalton subunit of BTF2 indicated that this polypeptide corresponded to the ERCC-3 gene product, a presumed helicase implicated in the human DNA excision repair disorders xeroderma pigmentosum and Cockayne's syndrome.
|
8465201 |
1993 |
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Amino acid sequence analysis of the tryptic digest generated from the 89-kilodalton subunit of BTF2 indicated that this polypeptide corresponded to the ERCC-3 gene product, a presumed helicase implicated in the human DNA excision repair disorders xeroderma pigmentosum and Cockayne's syndrome.
|
8465201 |
1993 |
Xeroderma Pigmentosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The involvement of some if not all of the TFIIH subunits in transcription and repair may explain the heterogeneity of the various and sometimes completely unrelated symptoms observed in xeroderma pigmentosum, Cockayne Syndrome and trichothiodystrophy disorders.
|
7980491 |
1994 |
Trichothiodystrophy Syndromes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The dysfunction of TFIIH could result in a large panel of genetic disorders, such as xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
|
7613092 |
1995 |
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
Apart from its role in basal transcription, TFIIH is intimately implicated in DNA repair and (probably) in cell cycle control (both of which are required to prevent carcinogenesis) as well as having possible roles in other processes.
|
8791490 |
1996 |
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 |
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutations in TFIIH components may, on top of a repair defect, also cause transcriptional insufficiency, which may explain part of the non-XP clinical features of TTD.
|
9012405 |
1997 |
Trichothiodystrophy Syndromes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutations in TFIIH components may, on top of a repair defect, also cause transcriptional insufficiency, which may explain part of the non-XP clinical features of TTD.
|
9012405 |
1997 |
Spinal Muscular Atrophy
|
0.040 |
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 |
Spinal Muscular Atrophy
|
0.040 |
Biomarker
|
disease |
BEFREE |
Deletion of NAIP and p44 is observed more often in severe SMA, but there is no evidence that these genes play a role in the pathology of the disease.
|
9245983 |
1997 |
Xeroderma Pigmentosum, Complementation Group D
|
0.030 |
Biomarker
|
disease |
BEFREE |
We consider the possible consequences of the reduced cellular content of TFIIH for the clinical symptoms in XP-B or XP-D patients, and discuss a 'conditional phenotype' that may involve an impairment of cellular function only under certain growth conditions.
|
9427533 |
1997 |
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 |
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 |
Xeroderma Pigmentosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We also observed weak constitutive fragility of the RNU1 and RNU2 loci in cells belonging to xeroderma pigmentosum complementation groups B and D (XPB and XPD) which are partially defective in the ERCC2 (XPD) and ERCC3 (XPB) helicase activities shared between the repairosome and the RNA polymerase H basal transcription factor TFIIH.
|
9557707 |
1998 |
Trichothiodystrophy Syndromes
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In most cases, xeroderma pigmentosum group D (XP-D) and trichothiodystrophy (TTD) patients carry mutations in the carboxy-terminal domain of the evolutionarily conserved helicase XPD, which is one of the subunits of the transcription/repair factor TFIIH (refs 1,2).
|
9771713 |
1998 |
Human anaplasmosis due to Anaplasma phagocytophilum
|
0.050 |
Biomarker
|
disease |
BEFREE |
Southern blot results revealed the existence of multigenes homologous to the P44 gene in the genome of the HGE agent.
|
9620397 |
1998 |
Human anaplasmosis due to Anaplasma phagocytophilum
|
0.050 |
Biomarker
|
disease |
BEFREE |
, p44 from the agent of human granulocytic ehrlichiosis, msp-2 and msp-4 from Anaplasma marginale, and map-1 from Cowdria ruminantium.
|
9705412 |
1998 |
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 |
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We previously reported that p53-mediated apoptosis is attenuated in primary human fibroblasts from individuals with Xeroderma Pigmentosum (XP) that harbor mutations in the TFIIH DNA helicases XPD or XPB.
|
10467415 |
1999 |
Xeroderma Pigmentosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We decided to look at the transcriptional activity of TFIIH from cell lines of XP individuals.
|
10064601 |
1999 |
Human anaplasmosis due to Anaplasma phagocytophilum
|
0.050 |
Biomarker
|
disease |
BEFREE |
Characterization of p44-homologous genes expressed by the HGE agent in a tissue culture would assist in understanding a role of the p44 multigene family in pathogenesis and immune response in HGE.
|
10364227 |
1999 |
Spinal Muscular Atrophy
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
Here we present the molecular analysis of SMA candidate genes, the survival motor neuron gene (SMN), the neuronal apoptosis inhibitory protein gene (NAIP) and the p44 gene.
|
10206524 |
1999 |
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 |