|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
XPB or XPD missense mutations lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome, suggesting that DNA repair and transcription defects are responsible for clinical heterogeneity.
|
23276657 |
2015 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
XPA and XPD and others can cause childhood XP neurological disease with widespread neuronal loss, axonal sensorimotor neuropathy, and dwarfing.
|
23622385 |
2013 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Xeroderma pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy.
|
17009404 |
2006 |
|
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 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 |
|
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 |
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 |
We also analyzed the relationship between DRC and the subjects' previously determined genotypes for four polymorphisms of two nucleotide-excision repair (NER) genes (in intron 9 of xeroderma pigmentosum (XP) C and exons 6, 10 and 23 of XPD) and one polymorphism of a base-excision repair gene in exon 10 of X-ray complementing group 1 (XRCC1).
|
12427537 |
2002 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To describe the temporal bone histopathology in 2 individuals with XP (XPA and XPD) with neurologic degeneration and to discuss the possible causes of deafness in these patients.
|
23928520 |
2013 |
|
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 |
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 |
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 |
This integration resolves puzzles regarding XP helicase functions and suggests that XP helicase positions and activities within TFIIH detect and verify damage, select the damaged strand for incision, and coordinate repair with transcription and cell cycle through CAK signaling.
|
21571596 |
2011 |
|
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 |
The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals.
|
25620205 |
2015 |
|
Xeroderma Pigmentosum
|
0.400 |
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
|
0.400 |
Biomarker
|
disease |
BEFREE |
The protein encoded by ERCC2 is a key enzyme involved in nucleotide excision repair, in which gene defects could lead to cancer prone syndromes such as Xeroderma pigmentosum D. We have examined the association between single nucleotide polymorphisms in the ERCC2 gene and the incidence of invasive breast cancer in three case-control series, with a maximum of 3,634 patients and of 3,340 controls.
|
16030124 |
2005 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The only exception is represented by mutations in XPD, resulting in combined features of XP and CS (XP/CS) that lead to activation of the checkpoint cascade after UV radiation.
|
17088560 |
2006 |
|
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 |
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 |
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 |
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 |
The bulky adducts, are recognized and repaired by nucleotid excision repair (NER) enzymes, including xeroderma pigmentosum C and D (XPC, XPD).
|
21390502 |
2011 |
|
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
The ERCC2 gene (excision repair cross-complementing rodent repair deficiency, complementation group 2 [xeroderma pigmentosum D]) (previously XPD), encoding a DNA repair protein, is involved in nucleotide excision repair and basal transcription.
|
16875933 |
2006 |
|
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
The XPD complementation group. Insights into xeroderma pigmentosum, Cockayne's syndrome and trichothiodystrophy.
|
1372108 |
1992 |