|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
|
16904611 |
2006 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
|
18637129 |
2009 |
|
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 |
XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha.
|
11955452 |
2002 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The objective was to assess whether two polymorphisms in the nucleotide excision repair gene XPD (ERCC2) are markers of SCCHN risk.
|
12110342 |
2002 |
|
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 |
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, Complementation Group D
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.
|
11710928 |
2001 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
|
11709541 |
2001 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
|
23800062 |
2013 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Xeroderma pigmentosum group D (XPD, also referred to as excision repair cross complementing gene 2, ERCC2) is one of key genes involved in nucleotide excision repair and two potentially functional polymorphisms of XPD (Asp312Asn and Lys751Gln) have been widely investigated in various cancers including prostate cancer.
|
23771356 |
2014 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genome sequence analysis indicated that the patient harbored a compound heterozygous mutation of c.1621A>C and c.591_594del, resulting in p.S541R and p.Y197* in ERCC2: then, patient was diagnosed with XP-D. Y197* has not been described before.
|
26993158 |
2016 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
|
26884178 |
2016 |
|
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 |
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2).
|
18637129 |
2009 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
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 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The effect of XPD/ERCC2 polymorphisms on gastric cancer risk among different ethnicities: a systematic review and meta-analysis.
|
23028453 |
2012 |
|
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 |
When the genotype frequencies of XPD (Llys751Gln) and XRCC1 (Arg399Gln) genes were examined in the patient and control groups, no significant difference was detected, while a significant association was found in XRCC4 (VNTR in intron 3 and G-1394T) polymorphisms.
|
22183071 |
2011 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Clinical utility gene card for: Xeroderma pigmentosum.
|
24105368 |
2014 |
|
Xeroderma Pigmentosum, Complementation Group D
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We investigated the genetic basis for these findings by analysing the Asp312Asn and Lys751Gln polymorphisms of the XPD (ERCC2) DNA repair gene in the same subjects.
|
14735199 |
2004 |