Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
A recent report provides a molecular basis for how mutations in the NER endonuclease XPG that affect the interaction of TFIIH might give rise to CS features.
|
18077223 |
2008 |
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 |
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 |
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.
|
17466625 |
2007 |
Cockayne Syndrome
|
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 |
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 |
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 |
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 |
Cockayne Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutation of CSB, CSA, or the TFIIH helicases XPB and XPD can also cause defective TCR and CS.
|
16246722 |
2005 |
Cockayne Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS.
|
14726016 |
2003 |
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 |
Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS.
|
14726016 |
2003 |
Xeroderma Pigmentosum
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in the XPD subunit of the general transcription/repair factor TFIIH yield the rare genetic disorder Xeroderma pigmentosum (XP), the phenotypes of which cannot be explained solely on the basis of a DNA repair defect.
|
11955452 |
2002 |
Xeroderma Pigmentosum
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We have also measured TFIIH levels in cells in which different mutations in the XPD gene are associated with clinical symptoms not of TTD but of the highly cancer-prone disorder xeroderma pigmentosum (XP).
|
12393803 |
2002 |
Cockayne Syndrome
|
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 |
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 |
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 |
Cockayne Syndrome
|
0.100 |
Biomarker
|
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 |
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 |
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 |
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 |
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 |
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 |