|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
BEFREE |
The dynamics of DNA damage repair from AcH treatment as well as role of xeroderma pigmentosum, complementation group A (XPA) in their repair were studied in vitro.
|
31237690 |
2019 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characteristics of Xeroderma Pigmentosum in Japan: Lessons From Two Clinical Surveys and Measures for Patient Care.
|
30565713 |
2019 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
However, the structure of the redefined DBD domain of XPA (XPA-DBD) remains to be investigated.
|
31092331 |
2019 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An XPA gene splicing mutation resulting in trace protein expression in an elderly patient with xeroderma pigmentosum group A without neurological abnormalities.
|
27603812 |
2017 |
|
Xeroderma pigmentosum, group A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.
|
27982466 |
2017 |
|
Xeroderma pigmentosum, group A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
|
27607234 |
2017 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
BEFREE |
Analysis of DNA binding by human factor xeroderma pigmentosum complementation group A (XPA) provides insight into its interactions with nucleotide excision repair substrates.
|
28860187 |
2017 |
|
Xeroderma pigmentosum, group A
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Both fermented milk and EPS were associated with a significant decrease in cyclobutane pyrimidine dimers and upregulated mRNA levels of xeroderma pigmentosum complementation group A (XPA), which is involved in DNA repair.
|
28098755 |
2017 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.
|
27982466 |
2017 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular epidemiological study of xeroderma pigmentosum in China: A case series of 19 patients.
|
27607234 |
2017 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.
|
26743599 |
2016 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.
|
26884178 |
2016 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel 5 nucleotide deletion in XPA gene is associated with severe neurological abnormalities.
|
26302748 |
2016 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
|
25566891 |
2015 |
|
Xeroderma pigmentosum, group A
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In this study, we tried to explore if xeroderma pigmentosum complementation group-A (XPA) expression is likely a prognostic prediction factor for locally advanced nasopharyngeal carcinoma (NPC) patients treated with platinum-based chemoradiotherapy, which was considered to bring chemotherapy-related severe toxicity compared with radiotherapy alone.
|
26156020 |
2015 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
BEFREE |
Drugs screened using XPA-iPSC lines can be helpful for treating XP-A patients in Japan.
|
26090552 |
2015 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Xeroderma pigmentosum, group A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation of xeroderma pigmentosum in a Chinese Han population.
|
25256075 |
2015 |
|
Xeroderma pigmentosum, group A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical profile and mutation analysis of xeroderma pigmentosum in Indian patients.
|
25566891 |
2015 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
BEFREE |
Because protein-protein interactions are essential for NER activity, we transfected human cancer cell lines (A549 and HCT116) with plasmids coding the amino acid sequences corresponding to the interacting domains between excision repair cross-complementation group 1 (ERCC1) and xeroderma pigmentosum, complementation group A (XPA), as well as ERCC1 and xeroderma pigmentosum, complementation group F (XPF), all NER proteins.
|
25115435 |
2014 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Clinical utility gene card for: Xeroderma pigmentosum.
|
24105368 |
2014 |
|
Xeroderma pigmentosum, group A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Ancient origin of a Japanese xeroderma pigmentosum founder mutation.
|
23194742 |
2013 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
All parents had at least one XP-A child (proband) with a homozygous founder mutation (IVS3-1G>C) in the XPA gene.
|
22168765 |
2012 |
|
Xeroderma pigmentosum, group A
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.
|
22081045 |
2012 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
BEFREE |
We hypothesized that Xeroderma pigmentosum complementation group A (XPA), because of its dual role in sensing and recruiting other DNA repair proteins to the damaged template, would be critical in defining sensitivity to cisplatin.
|
22467238 |
2012 |