|
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 |
AlteredExpression
|
disease |
BEFREE |
The involvement of some if not all of the TFIIH subunits in transcription and repair may explain the heterogeneity of the various and sometimes completely unrelated symptoms observed in xeroderma pigmentosum, Cockayne Syndrome and trichothiodystrophy disorders.
|
7980491 |
1994 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The only exception is represented by mutations in XPD, resulting in combined features of XP and CS (XP/CS) that lead to activation of the checkpoint cascade after UV radiation.
|
17088560 |
2006 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations of the TFIIH helicase subunits xeroderma pigmentosum (XP) B or XPD yield overlapping DNA repair and transcription syndromes.
|
11239393 |
2001 |
|
Xeroderma Pigmentosum
|
0.400 |
Biomarker
|
disease |
BEFREE |
We also observed weak constitutive fragility of the RNU1 and RNU2 loci in cells belonging to xeroderma pigmentosum complementation groups B and D (XPB and XPD) which are partially defective in the ERCC2 (XPD) and ERCC3 (XPB) helicase activities shared between the repairosome and the RNA polymerase H basal transcription factor TFIIH.
|
9557707 |
1998 |
|
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 |
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 |
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 |
|
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 |
BEFREE |
Different mutations in XPB and XPD can instead cause xeroderma pigmentosum (XP).
|
18579452 |
2008 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
|
7920640 |
1994 |
|
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 |
|
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 |
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 |
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
|
9101292 |
1997 |
|
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 |
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
|
18470933 |
2008 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Single nucleotide polymorphisms in xeroderma pigmentosum complementation groups C (Lys939Gln, A/C), D (XPD; Lys751Gln, A/C), and G (Asp1104His, G/C), and X-ray repair cross-complementing groups 1 (XRCC1; Arg399Gln, G/A) and 3 (Thr241Met, T/C) genes were genotyped.
|
16880786 |
2006 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We previously reported that p53-mediated apoptosis is attenuated in primary human fibroblasts from individuals with Xeroderma Pigmentosum (XP) that harbor mutations in the TFIIH DNA helicases XPD or XPB.
|
10467415 |
1999 |
|
Xeroderma Pigmentosum
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We decided to look at the transcriptional activity of TFIIH from cell lines of XP individuals.
|
10064601 |
1999 |
|
Xeroderma Pigmentosum
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Patients with the nucleotide excision repair (NER) disorder xeroderma pigmentosum (XP) are highly predisposed to develop sunlight-induced skin cancer, in remarkable contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the same XPD gene.
|
10416615 |
1999 |