Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Variants in the human double-stranded RNA editing enzyme ADAR produce three well-characterized rare Mendelian Diseases: Dyschromatosis Symmetrica Hereditaria (OMIM: 127400), Aicardi-Goutières syndrome (OMIM: 615010) and Bilateral Striatal Necrosis/Dystonia.
|
31320745 |
2020 |
Symmetrical dyschromatosis of extremities
|
0.800 |
Biomarker
|
disease |
BEFREE |
So, the exact pathogenic mechanism of ADAR1 in DSH patients wasn't clarified in this study.
|
29536976 |
2019 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Seven novel mutations of ADAR in multi-ethnic pedigrees with dyschromatosis symmetrica hereditaria in China.
|
31423758 |
2019 |
Symmetrical dyschromatosis of extremities
|
0.800 |
Biomarker
|
disease |
BEFREE |
The causative gene of DSH was clarified as ADAR1 by positional cloning including linkage analysis and haplotype analysis in 2003.
|
30692041 |
2019 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The findings of this study expand our knowledge of the range of ADAR1 gene mutations in DSH and will contribute to identifying correlations between the various DSH phenotypes and genotypes.
|
29185800 |
2018 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The novel variants described in the current study add to the current knowledge of ADAR1 mutations in DSH.
|
28393185 |
2017 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A three-generation family exhibiting phenotypic variability with a single germline ADAR1 mutation suggests that chilblain might aggravate the clinical phenotypes of DSH.
|
26892242 |
2016 |
Symmetrical dyschromatosis of extremities
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
|
25604658 |
2015 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two novel DSRAD mutations, p.G1047D and p.Y587C, were found in Chinese patients with DSH and our data add new variants to the knowledge of DSRAD mutations in DSH.
|
24446047 |
2015 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We identified five novel and two recurrent mutations of the ADAR1 gene in seven Chinese families with DSH and investigated potential effects of the novel mutations in this study.
|
24950769 |
2014 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A Chinese family with typical DSH was screened for mutation of ADAR1, and we aimed to investigate the functional significance of the identified mutation.
|
23621630 |
2013 |
Symmetrical dyschromatosis of extremities
|
0.800 |
Biomarker
|
disease |
BEFREE |
This finding improves our understanding of the role of ADAR1 in DSH.
|
24065641 |
2013 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We performed a mutation analysis of the ADAR1 gene in 2 Chinese families with DSH and reviewed all articles published regarding ADAR1 mutations reported since 2003 by using PubMed.
|
23315877 |
2013 |
Symmetrical dyschromatosis of extremities
|
0.800 |
Biomarker
|
disease |
BEFREE |
Because ADAR1 plays various important roles in human tissue, we believe that a clarification of the pathogenesis of DSH will promote the understanding of the physiological functions of ADAR1, which will have significant scientific implications.
|
22974014 |
2013 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We add new variants to the knowledge of DSRAD mutations in DSH.
|
22039911 |
2012 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This information expands the database on DSRAD gene mutations associated with DSH.
|
22843049 |
2012 |
Symmetrical dyschromatosis of extremities
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
|
23001123 |
2012 |
Symmetrical dyschromatosis of extremities
|
0.800 |
Biomarker
|
disease |
BEFREE |
These novel findings further extend our understanding of the role of ADAR1 in DSH.
|
21933234 |
2011 |
Symmetrical dyschromatosis of extremities
|
0.800 |
PosttranslationalModification
|
disease |
BEFREE |
Mutational spectrum of the ADAR1 gene in dyschromatosis symmetrica hereditaria.
|
20186421 |
2010 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study suggests that splice site mutation IVS5-1g>a and missense mutation p.R1026W are new mutations of ADAR1 gene, which should be useful in genetic counseling and prenatal diagnosis for the affected families and expanding the database on ADAR1 gene mutations in DSH.
|
20300939 |
2010 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study expands the database on the DSRAD gene mutations in DSH.
|
18627385 |
2008 |
Symmetrical dyschromatosis of extremities
|
0.800 |
Biomarker
|
disease |
BEFREE |
Six novel mutations were found in five unrelated families and one sporadic case, which have further improved our understanding on the role of ADAR1 in DSH.
|
18243666 |
2008 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: histological observation and comparison of genotypes and clinical phenotypes.
|
18705826 |
2008 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
DSH was mapped to chromosome 1q21.3, and mutations in the gene ADAR (DSRAD) were identified in Japanese, Chinese and Taiwanese families with autosomal dominant DSH.
|
18462451 |
2008 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Only three cases with neurological disorders have been reported, although more than 50 mutations of the ADAR1 gene causing DSH have been reported and none of them had any neurological symptoms.
|
19017046 |
2008 |