|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Quantitative electron microscopy of the normal human lymphocyte (author's transl)].
|
601675 |
1977 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
BEFREE |
While HD1A closely resembles the XPD phenotype in terms of u.v. sensitivity and excision repair it differs from XPD because of its ability to reactivate u.v.-irradiated adenovirus 2 to an extent similar to that of its HeLa parent.
|
3757174 |
1986 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene.
|
1729695 |
1992 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
BEFREE |
The human DNA excision repair gene, ERCC2 (XPD), substantially corrected the plasmid UV hypersensitivity and UV hypermutability of xeroderma pigmentosum complementation group D cells; however, the dose response relationship varied for different end points.
|
8033104 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
BEFREE |
These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene.
|
7849702 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene.
|
7849702 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
No major modifications of the ERCC-2 gene were detected with two cDNA probes in either XP-D or TTD patients indicating that the association between TTD and XP-D is not likely to result from a large deletion or rearrangement involving this gene.
|
7510365 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
These cellular phenotypes are amenable to experimental strategies employing complementation, an approach previously used to demonstrate the correction of XP-D phenotypes following the introduction of the XPD (ERCC2) gene.
|
7849702 |
1994 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains [XP6BE(SV40), XP17PV, XP102LO, A31-27 (a HeLa/XP102LO hybrid), and XP-CS-2] revealed mutations predominantly affecting previously identified functional domains.
|
7585650 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains [XP6BE(SV40), XP17PV, XP102LO, A31-27 (a HeLa/XP102LO hybrid), and XP-CS-2] revealed mutations predominantly affecting previously identified functional domains.
|
7585650 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
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, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Nucleotide sequence analysis of the ERCC2 cDNA from five XP group D cell strains [XP6BE(SV40), XP17PV, XP102LO, A31-27 (a HeLa/XP102LO hybrid), and XP-CS-2] revealed mutations predominantly affecting previously identified functional domains.
|
7585650 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
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, Complementation Group D
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also found that wild-type, but not Arg273His mutant p53 inhibits XPD (Rad3) and XPB DNA helicase activities.
|
7663514 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
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, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
|
7825573 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
|
9238033 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
|
9012405 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here we report on two causative mutations of the XPD gene in XP61OS, a Japanese XP group D patient who has only mild skin symptoms of XP without CS, TTD, or other neurological complications.
|
9101292 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
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
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we report on two causative mutations of the XPD gene in XP61OS, a Japanese XP group D patient who has only mild skin symptoms of XP without CS, TTD, or other neurological complications.
|
9101292 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
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 |