Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
XPD and FANCJ have been connected to the genetic instability syndromes xeroderma pigmentosum and Fanconi anemia.
|
20137776 |
2010 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
XPD mutations frequently were associated with abnormal VDR stimulation in compound heterozygote patients with TTD, XP, or XP/TTD.
|
23232694 |
2013 |
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
TFIIH multi-protein complex with its important helicase-Xeroderma Pigmentosum Protein (XPD) serves as the pivotal factor for opening up of the damaged lesion DNA site and carry out the repair process.
|
29616226 |
2018 |
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 |
Biomarker
|
disease |
BEFREE |
Accordingly, defects in specific enzymatic functions typically result in XP, dissociation of the CAK subunit from TFIIH is associated with XP/CS and a more generalized destabilization of TFIIH gives rise to TTD.
|
18077223 |
2008 |
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
MGD |
An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria.
|
16904611 |
2006 |
Xeroderma Pigmentosum
|
0.400 |
AlteredExpression
|
disease |
LHGDN |
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.
|
12820975 |
2003 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Based upon these data, we hypothesize that variations in the human XPD/ERCC2 gene might increase the susceptibility for several disorders besides Xeroderma pigmentosum in heterozygotes under particular environmental conditions.
|
25951169 |
2015 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.
|
19934020 |
2009 |
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 |
Clinically relevant mutations in the XPD helicase can lead to Xeroderma pigmentosum, Cockayne's syndrome, Trichothiodystrophy, or COFS syndrome.
|
23161009 |
2013 |
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cockayne syndrome (CS) cells and xeroderma pigmentosum (XP) cells (XPD, XPA, XPG, and XPF) were defective in Pol II degradation, whereas XPC cells whose defect is limited to global genome NER in nontranscribing regions were proficient for Pol II degradation.
|
18927284 |
2008 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.
|
18817897 |
2008 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Crystal structure of the FeS cluster-containing nucleotide excision repair helicase XPD.
|
18578568 |
2008 |
Xeroderma Pigmentosum
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Defects in the xeroderma pigmentosum type B (XPB) gene (ERCC3), a DNA helicase involved in nucleotide excision repair (NER) and an essential subunit of the basal transcription factor, TFIIH, have been described in only three families.
|
16947863 |
2006 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Different mutations in XPB and XPD can instead cause xeroderma pigmentosum (XP).
|
18579452 |
2008 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
|
22617342 |
2012 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Erratum: A noncancerous variant of xeroderma pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation.
|
29284765 |
2019 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
FANCJ belongs to a conserved iron-sulfur (Fe S) cluster family of helicases important for genomic stability including XPD (nucleotide excision repair), DDX11 (sister chromatid cohesion), and RTEL (telomere metabolism), genetically linked to xeroderma pigmentosum/Cockayne syndrome, Warsaw breakage syndrome, and dyskeratosis congenita, respectively.
|
23935105 |
2013 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG).
|
23623389 |
2013 |
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
Frequent retrotransposition of endogenous genes in ERCC2-deficient cells derived from a patient with xeroderma pigmentosum.
|
31455402 |
2019 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Impaired phosphorylation disrupts the transactivation, as observed in cells either overexpressing the non-phosphorylated AR/S515A, isolated from xeroderma pigmentosum patient (bearing a mutation in XPD subunit of TFIIH), or in which cdk7 kinase was silenced.
|
21157430 |
2011 |
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 |
Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]).
|
16904611 |
2006 |
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 |