|
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
|
1372108 |
1992 |
|
Xeroderma Pigmentosum
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
|
7920640 |
1994 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of the defects in ERCC2 in clinically distinct patients with XP,XP/Cockayne's syndrome, and TTD may provide insight into the molecular mechanisms of these genetically related but clinically distinct disorders.
|
7963680 |
1994 |
|
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this work we describe the effect of ERCC2 on the DNA repair deficient phenotype of XP-D and on two repair-defective TTD cell strains (TTD1VI and TTD2VI) assigned by complementation analysis to group D of XP.
|
8055625 |
1994 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Thus, we are developing a model for gene therapy in XP, particularly for patients belonging to group D. We report here the construction of a retroviral vector (LXPDSN) containing the XPD (ERCC2) cDNA, which fully complements the DNA repair deficiency of primary skin fibroblasts.
|
8590735 |
1995 |
|
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
To characterize nucleotide excision repair properties of cells from trichothiodystrophy (TTD) patients genetically-related to the xeroderma pigmentosum (XP) group D, TTD skin fibroblasts from two unrelated patients (TTD1VI and TTD2VI) belonging to the TTD/XPD group were transformed with a plasmid containing SV40 large T antigen-coding sequences and some DNA repair properties, such as unscheduled DNA synthesis (UDS), UV-survival, in vitro repair synthesis of cell extracts and reactivation of UV-irradiated reporter plasmid were studied.
|
8824772 |
1995 |
|
Xeroderma Pigmentosum
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The human nucleotide excision repair and transcription gene ERCC2 is able to restore survival to normal levels after exposure to UV light in XP complementation group D cells.
|
7585650 |
1995 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.
|
7563073 |
1995 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
|
9101292 |
1997 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The clinical features of CS can also accompany the excision repair-defective hereditary disorder xeroderma pigmentosum (XP) from genetic complementation groups B, D or G. The XPB and XPD proteins are subunits of RNA polymerase II (RNAP II) transcription factor IIH (TFIIH).
|
9278484 |
1997 |
|
Xeroderma Pigmentosum
|
0.400 |
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
|
0.400 |
Biomarker
|
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
These results establish the essential function of the XPD protein in mammals and in cellular viability and are consistent with the notion that only subtle XPD mutations are found in XP, XP/Cockayne syndrome, and trichothiodystrophy patients.
|
9426063 |
1998 |
|
Xeroderma Pigmentosum
|
0.400 |
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
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We decided to look at the transcriptional activity of TFIIH from cell lines of XP individuals.
|
10064601 |
1999 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the same XPD gene.
|
10416615 |
1999 |
|
Xeroderma Pigmentosum
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations within the helicase regions of these genes are associated with DNA repair deficiencies and XPD; mutations elsewhere in these genes are correlated with symptoms of XP and Cockayne syndrome and trichothiodystrophy.
|
10699759 |
2000 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The DNA repair-deficient genetic disorders xeroderma pigmentosum (XP) and trichothiodystrophy (TTD) can both result from mutations in the XPD gene, the sites of the mutations differing between the two disorders.
|
10667598 |
2000 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in XPB and XPD can result in xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy.
|
11701636 |
2000 |
|
Xeroderma Pigmentosum
|
0.400 |
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
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
A Xeroderma pigmentosum group D gene polymorphism predicts clinical outcome to platinum-based chemotherapy in patients with advanced colorectal cancer.
|
11751380 |
2001 |
|
Xeroderma Pigmentosum
|
0.400 |
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
|
0.400 |
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 |