|
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 |
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 |
Biomarker
|
disease |
CLINGEN |
Clinical utility gene card for: Xeroderma pigmentosum.
|
24105368 |
2014 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here, we report a Japanese XPA patient, XP79KO, a compound heterozygote with a newly identified T to G transversion at splice donor site in intron 1 in one allele, and with the AlwNI mutation in another allele in the XPA gene.
|
16098033 |
2005 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Premature aging in mice deficient in DNA repair and transcription.
|
11950998 |
2002 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Here we show that mice lacking both the XPA (XP-group A) and CSB (CS-group B) genes in contrast to the single mutants display severe growth retardation, ataxia, and motor dysfunction during early postnatal development.
|
11687625 |
2001 |
|
Xeroderma pigmentosum, group A
|
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 A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A series of xeroderma pigmentosum group A cell lines from 19 patients and cell lines from 13 other family members were examined for XPA mutations to find previously unidentified mutations from American and European patients, to establish pedigrees in represented families, and to develop a database for XPA diagnosis.
|
9671271 |
1998 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
CLINGEN |
High incidence of ultraviolet-B-or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene.
|
7675085 |
1995 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The Japan Society of Human Genetics Award Lecture. Molecular analysis of xeroderma pigmentosum group A gene.
|
8504220 |
1993 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The molecular basis of group A xeroderma pigmentosum (XP) was investigated, and 3 mutations located in a zinc finger consensus sequence (nucleotide 313-387) of the XP group A complementing (XPAC) gene were identified in 2 Caucasian patients GM2990 and GM2009 who had typical symptoms of group A XP.
|
1339397 |
1992 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Three nonsense mutations responsible for group A xeroderma pigmentosum.
|
1372102 |
1992 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum.
|
1372103 |
1992 |
|
Xeroderma pigmentosum, group A
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The molecular basis of group A xeroderma pigmentosum (XP) was investigated, and 3 mutations located in a zinc finger consensus sequence (nucleotide 313-387) of the XP group A complementing (XPAC) gene were identified in 2 Caucasian patients GM2990 and GM2009 who had typical symptoms of group A XP.
|
1339397 |
1992 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.
|
2234061 |
1990 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Peripheral neuropathy in xeroderma pigmentosum.
|
2168777 |
1990 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Peripheral neuropathy in xeroderma pigmentosum.
|
2168777 |
1990 |
|
Xeroderma pigmentosum, group A
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Xeroderma Pigmentosum
|
0.700 |
Biomarker
|
disease |
CTD_human |
Slow accumulation of mutations in Xpc-/- mice upon induction of oxidative stress.
|
24084170 |
2013 |
|
Carcinoma, Basal Cell
|
0.420 |
Biomarker
|
disease |
CTD_human |
Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire.
|
17687452 |
2007 |
|
melanoma
|
0.410 |
CausalMutation
|
disease |
CGI |
|
|
|
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.
|
24135642 |
2014 |
|
Squamous cell carcinoma
|
0.390 |
CausalMutation
|
disease |
CGI |
|
|
|