|
Xeroderma pigmentosum, group G
|
0.010 |
Biomarker
|
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 |
|
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, 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 |
|
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, Complementation Group D
|
0.040 |
GeneticVariation
|
disease |
BEFREE |
To study the relationships between mutagenesis and carcinogenesis, we compared the mutations and their frequency induced by ultraviolet irradiation at 254 nm (UV-C) in XP-D (GM-08207B/XP6BE), TTD/XP-D (TTD1VI-LAS-KMT11) and wild-type (MRC-5V1) human cells.
|
7563073 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
0.040 |
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 |
|
Xeroderma Pigmentosum, Complementation Group D
|
0.040 |
Biomarker
|
disease |
BEFREE |
MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation.
|
20797633 |
2010 |
|
Xeroderma Pigmentosum, Complementation Group D
|
0.040 |
Biomarker
|
disease |
BEFREE |
The xeroderma pigmentosum group D (XPD) helicase subunit of TFIIH functions in DNA repair and transcription initiation.
|
11242112 |
2001 |
|
Xeroderma pigmentosum and Cockayne syndrome complex
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The severe xeroderma pigmentosum/Cockayne syndrome (XP/CS) syndrome is caused by mutations in the XPB, XPD and XPG genes that encode the helicase subunits of TFIIH and the 3' endonuclease of nucleotide excision repair (NER).
|
16167068 |
2006 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Moreover, when XPD mutations prevent interaction with the p44 subunit of TFIIH, transactivation directed by certain nuclear receptors is inhibited, regardless of TTD versus XP phenotype, thus explaining the overlapping symptoms.
|
12820975 |
2003 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
Accordingly, defects in specific enzymatic functions typically result in XP, dissociation of the CAK subunit from TFIIH is associated with XP/CS and a more generalized destabilization of TFIIH gives rise to TTD.
|
18077223 |
2008 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in the rare recessive genetic disorder xeroderma pigmentosum (XP).
|
19934020 |
2009 |
|
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 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Our results suggested a link between TTD- but not XP-associated XPD mutations, placental maldevelopment and risk of pregnancy complications, possibly due to impairment of TFIIH-mediated functions in placenta.
|
22234153 |
2012 |
|
Xeroderma Pigmentosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinical entities, including the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder trichothiodystrophy (TTD), which share only cutaneous photosensitivity.
|
25605938 |
2015 |
|
Xeroderma Pigmentosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have been described in only three families.
|
16947863 |
2006 |
|
Xeroderma Pigmentosum
|
0.100 |
Biomarker
|
disease |
BEFREE |
TFIIH multi-protein complex with its important helicase-Xeroderma Pigmentosum Protein (XPD) serves as the pivotal factor for opening up of the damaged lesion DNA site and carry out the repair process.
|
29616226 |
2018 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]).
|
16904611 |
2006 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations of the TFIIH helicase subunits xeroderma pigmentosum (XP) B or XPD yield overlapping DNA repair and transcription syndromes.
|
11239393 |
2001 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the XPD helicase component of TFIIH can result in the diverse clinical features associated with xeroderma pigmentosum (XP) and trichothiodystrophy (TTD).
|
11734544 |
2001 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DNA-dependent ATPase/helicase subunits of TFIIH, XPB and XPD, are associated with three inherited syndromes as follows: xeroderma pigmentosum with or without Cockayne syndrome and trichothiodystrophy.
|
10660593 |
2000 |
|
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All three are genetically complex, with at least eight complementation groups for XP (XP-A to -G and variant), five for CS (CS-A, CS-B, XP-B, XP-D, and XP-G), and three for TTD (XP-B, XP-D, and TTD-A).
|
11037299 |
2001 |
|
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 |
|
Xeroderma Pigmentosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mutations in certain subunits of the DNA repair/transcription factor complex TFIIH are linked to the human syndromes xeroderma pigmentosum (XP), Cockayne's syndrome (CS), and trichothiodystrophy (TTD).
|
19008953 |
2008 |