|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
CausalMutation
|
CLINVAR |
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
|
27004399 |
2016 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
CausalMutation
|
CLINVAR |
The influence of DNA repair on neurological degeneration, cachexia, skin cancer and internal neoplasms: autopsy report of four xeroderma pigmentosum patients (XP-A, XP-C and XP-D).
|
24252196 |
2013 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
CausalMutation
|
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
|
|
0.810 |
CausalMutation
|
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
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Selective regulation of vitamin D receptor-responsive genes by TFIIH.
|
15494306 |
2004 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
CausalMutation
|
CLINVAR |
Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.
|
12820975 |
2003 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
GeneticVariation
|
UNIPROT |
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
|
|
0.810 |
CausalMutation
|
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
|
|
0.810 |
GeneticVariation
|
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
CausalMutation
|
CLINVAR |
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
|
9238033 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
|
9101292 |
1997 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
GeneticVariation
|
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
|
7585650 |
1995 |
|
Xeroderma Pigmentosum, Complementation Group D
|
|
0.810 |
GeneticVariation
|
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
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
|
7849702 |
1994 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A temperature-sensitive disorder in basal transcription and DNA repair in humans.
|
11242112 |
2001 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
|
9758621 |
1998 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
|
9195225 |
1997 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
|
9238033 |
1997 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
|
8571952 |
1996 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
|
7920640 |
1994 |
|
Photosensitive Trichothiodystrophy
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Cerebrooculofacioskeletal Syndrome 2
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Trichothiodystrophy Syndromes
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains.
|
8571952 |
1996 |