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 |
Our data suggests that R1155W missense mutation is a new mutation in exon 15 of DSRAD gene and further testify that DSRAD gene is the pathogenic gene of DSH.
|
15659327 |
2005 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
We have clarified for the first time four pathological mutations of the double-stranded RNA-specific adenosine deaminase gene (ADAR1 or DSRAD) in four DSH pedigrees.
|
15955093 |
2005 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To refine the previously mapped region that facilitates the identification of the DSH gene and to delineate the clinical and genetic features of Chinese DSH cases by a literature review of 136 cases reported in China.
|
15099357 |
2004 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on DSRAD gene mutations in DSH.
|
17021765 |
2006 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We reviewed a total of 48 mutations in the ADAR gene in patients with dyschromatosis symmetrica hereditaria by previous reports and speculated that the mutation hotspots on the ADAR gene might be located in exons 9-15.
|
17225010 |
2007 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria.
|
15347341 |
2004 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study should be useful for genetic counseling and prenatal diagnosis for affected families and in expanding the database on ADAR gene mutations in DSH.
|
16133458 |
2005 |
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 |
GeneticVariation
|
disease |
BEFREE |
We add new variants to the knowledge of DSRAD mutations in DSH.
|
22039911 |
2012 |
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 |
We add new variants to the knowledge of DSRAD mutations in DSH.
|
17033168 |
2006 |
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 |
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 |
PosttranslationalModification
|
disease |
BEFREE |
Two novel mutations and evidence for haploinsufficiency of the ADAR gene in dyschromatosis symmetrica hereditaria.
|
16536805 |
2006 |
Symmetrical dyschromatosis of extremities
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study expands the database on the DSRAD gene mutations in DSH and enriches the knowledge about the function of the DSRAD gene.
|
15844011 |
2005 |
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 |
GeneticVariation
|
disease |
BEFREE |
This information expands the database on DSRAD gene mutations associated with DSH.
|
22843049 |
2012 |
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 |
These novel findings further extend our understanding of the role of ADAR1 in DSH.
|
21933234 |
2011 |
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 |