|
Xeroderma pigmentosum, group B
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
We used a knock-in mouse model that we generated and that endogenously expresses a fluorescent version of XPB (XPB-YFP).
|
31516394 |
2019 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Xeroderma Pigmentosum group B (XPB) and group D (XPD) are important helicases in NER and are also critical subunits of TFIIH complex.
|
29959982 |
2018 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
BEFREE |
Next, using small RNA interference, stable knockdown and overexpression, and small-molecule inhibitors targeting xeroderma pigmentosum complementation group B (XPB), the DNA helicase encoded by ERCC3, we demonstrate that NER inhibition significantly increases sensitivity and overcomes resistance to alkylating agents in MM.
|
28588253 |
2018 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
|
26884178 |
2016 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Clinical utility gene card for: Xeroderma pigmentosum.
|
24105368 |
2014 |
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in XPD (ERCC2), XPB (ERCC3), and TTD-A (GTF2H5), genes involved in nucleotide excision repair and transcription, can cause several disorders including trichothiodystrophy (TTD) and xeroderma pigmentosum (XP).
|
22234153 |
2012 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
MGD |
An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.
|
19114557 |
2009 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
CLINGEN |
An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair.
|
19114557 |
2009 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
|
16947863 |
2006 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
|
16947863 |
2006 |
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
|
16947863 |
2006 |
|
Xeroderma pigmentosum, group B
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Increased mRNA levels of xeroderma pigmentosum complementation group B (XPB) and Cockayne's syndrome complementation group B (CSB) without increased mRNA levels of multidrug-resistance gene (MDR1) or metallothionein-II (MT-II) in platinum-resistant human ovarian cancer tissues.
|
11077043 |
2000 |
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
|
10447254 |
1999 |
|
Xeroderma pigmentosum, group B
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.
|
8663148 |
1996 |
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mRNA expression of DNA nucleotide excision repair genes ERCC1, XPD (ERCC2), XPB (ERCC3), and polymerase beta was found to be similar in both the MCF7-WT and MCF7-MLNr cells.
|
7491121 |
1995 |
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The human ERCC3 gene, which corrects specifically the nucleotide excision repair defect in human xeroderma pigmentosum group B and cross-complements the repair deficiency in rodent UV-sensitive mutants of group 3, encodes a presumed DNA helicase that is identical to the p89 subunit of the general transcription factor TFIIH/BTF2.
|
8196650 |
1994 |
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we report the identification of two new XP-B patients: XPCS1BA and XPCS2BA (siblings), by microneedle injection of the cloned ERCC3 repair gene as well as by cell hybridization.
|
8304337 |
1994 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
BEFREE |
ERCC3 was initially identified as a gene correcting the nucleotide excision repair (NER) defect of xeroderma pigmentosum complementation group B (XP-B).
|
8157004 |
1994 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair.
|
8408834 |
1993 |
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21.
|
1916809 |
1991 |
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.
|
2167179 |
1990 |
|
Xeroderma pigmentosum, group B
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Xeroderma pigmentosum, group B
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
Xeroderma pigmentosum, group B
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
|
9012405 |
1997 |