|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mRNA expression of DNA nucleotide excision repair genes ERCC1, XPD (ERCC2), XPB (ERCC3), and polymerase beta was found to be similar in both the MCF7-WT and MCF7-MLNr cells.
|
7491121 |
1995 |
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The human ERCC3 gene, which corrects specifically the nucleotide excision repair defect in human xeroderma pigmentosum group B and cross-complements the repair deficiency in rodent UV-sensitive mutants of group 3, encodes a presumed DNA helicase that is identical to the p89 subunit of the general transcription factor TFIIH/BTF2.
|
8196650 |
1994 |
|
Xeroderma pigmentosum, group B
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in XPD (ERCC2), XPB (ERCC3), and TTD-A (GTF2H5), genes involved in nucleotide excision repair and transcription, can cause several disorders including trichothiodystrophy (TTD) and xeroderma pigmentosum (XP).
|
22234153 |
2012 |
|
Xeroderma pigmentosum, group B
|
1.000 |
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 B
|
1.000 |
Biomarker
|
disease |
BEFREE |
ERCC3 was initially identified as a gene correcting the nucleotide excision repair (NER) defect of xeroderma pigmentosum complementation group B (XP-B).
|
8157004 |
1994 |
|
Xeroderma pigmentosum, group B
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues.
|
11077043 |
2000 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Next, using small RNA interference, stable knockdown and overexpression, and small-molecule inhibitors targeting xeroderma pigmentosum complementation group B (XPB), the DNA helicase encoded by ERCC3, we demonstrate that NER inhibition significantly increases sensitivity and overcomes resistance to alkylating agents in MM.
|
28588253 |
2018 |
|
Xeroderma pigmentosum, group B
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
We used a knock-in mouse model that we generated and that endogenously expresses a fluorescent version of XPB (XPB-YFP).
|
31516394 |
2019 |
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21.
|
1916809 |
1991 |
|
Trichothiodystrophy Syndromes
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Mutations in three of the genes encoding the XPB, XPD and TTDA components of transcription factor TFIIH can result in the clinical phenotype of trichothiodystrophy (TTD).
|
18579452 |
2008 |
|
Trichothiodystrophy Syndromes
|
0.600 |
Biomarker
|
disease |
BEFREE |
XPB and XPD genetic defects can also cause premature aging with profound neurological defects without increased cancers: Cockayne syndrome (CS) and trichothiodystrophy (TTD).
|
21571596 |
2011 |
|
Trichothiodystrophy Syndromes
|
0.600 |
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 |
|
Trichothiodystrophy Syndromes
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin.
|
25605938 |
2015 |
|
Trichothiodystrophy Syndromes
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
p8/TTDA overexpression enhances UV-irradiation resistance and suppresses TFIIH mutations in a Drosophila trichothiodystrophy model.
|
19008953 |
2008 |
|
Trichothiodystrophy Syndromes
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Overexpression of the XPB-A355C (TTD) gene in an XP/CS cell gives rise to a cellular phenotype of increased repair similar to that of TTD6VI cells, while equal expression of the two mutated genes leads to an intermediate cellular phenotype between XP/CS and TTD.
|
10332046 |
1999 |
|
Trichothiodystrophy Syndromes
|
0.600 |
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 |
|
Trichothiodystrophy Syndromes
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The repair-deficient form of trichothiodystrophy (TTD) most often results from mutations in the genes XPB or XPD, encoding helicases of the transcription/repair factor TFIIH.
|
11062469 |
2000 |
|
Trichothiodystrophy Syndromes
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The sun-sensitive form of the severe neurodevelopmental, brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH.
|
9651581 |
1998 |
|
Trichothiodystrophy Syndromes
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These cell lines result from a stable transfection of the XPB-TTD allele into XP complementation group B fibroblasts, from an XP patient who also have clinical abnormalities corresponding to Cockayne's syndrome (CS).
|
15608684 |
2005 |
|
Trichothiodystrophy Syndromes
|
0.600 |
Biomarker
|
disease |
BEFREE |
Moreover, mutations in any of these three TFIIH subunits also disturb the overall architecture of the TFIIH complex and its ability to transactivate certain nuclear receptor-responsive genes, explaining in part, some of the TTD phenotypes.
|
19808800 |
2009 |
|
Trichothiodystrophy Syndromes
|
0.600 |
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 |
|
Trichothiodystrophy Syndromes
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
TTD group A (TTD-A) patients carry mutations in the smallest TFIIH subunit, TTDA, which is an 8-kDa protein that dynamically interacts with TFIIH.
|
21730288 |
2011 |
|
Trichothiodystrophy Syndromes
|
0.600 |
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 |
|
Trichothiodystrophy Syndromes
|
0.600 |
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 |