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 |
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 |
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 |
AlteredExpression
|
disease |
BEFREE |
Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinical entities, including the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder trichothiodystrophy (TTD), which share only cutaneous photosensitivity.
|
25605938 |
2015 |
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 |
Biomarker
|
disease |
BEFREE |
Mutations in human XPD (also known as ERCC2) mainly cause three clinical phenotypes: xeroderma pigmentosum (XP), Cockayne syndrome (XP/CS) and trichothiodystrophy (TTD), and only XP patients have a high predisposition to developing cancer.
|
25431422 |
2015 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Since mutations at the ATP-binding groove of XPD in humans are present in the Xeroderma pigmentosum-Cockayne Syndrome (XP-CS), we recreated rem mutations in human cells, and found that these are XP-CS-like.
|
25500814 |
2014 |
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Our results suggested a link between TTD- but not XP-associated XPD mutations, placental maldevelopment and risk of pregnancy complications, possibly due to impairment of TFIIH-mediated functions in placenta.
|
22234153 |
2012 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in three of the subunits, XPB, XPD and TTDA, lead to three distinct genetic disorders: xeroderma pigmentosum (XP), Cockayne syndrome (CS) and trichothiodystrophy (TTD) predisposing patients not only to cancer and ageing but also to developmental and neurological defects.
|
21592869 |
2011 |
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 |
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 |
Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C>T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs*39).
|
18637129 |
2009 |
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
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
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.
|
19934020 |
2009 |