|
rs72556554
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene.
|
28089741 |
2017 |
|
rs121908117
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The X-ray crystal structures of the TREX1 wt apoprotein, the dominant D200H, D200N and D18N homodimer mutants derived from AGS and FCL patients, as well as the recessive V201D homodimer mutant have been determined.
|
22071149 |
2012 |
|
rs72556554
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The TREX1 proteins containing R114H and the insertion mutations aspartate at position 201 (D201ins) and alanine at position 124 (A124ins), found in compound heterozygous AGS with R114H, were prepared and the DNA degradation activities were tested.
|
21937424 |
2011 |
|
rs121908117
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
|
20799324 |
2010 |
|
rs121908117
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Further, the D200N- and D18N-containing TREX1 homo- and heterodimers inhibit the dsDNA degradation activity of TREX1WT enzyme, providing a likely explanation for the dominant phenotype of these TREX1 mutant alleles in AGS and FCL.
|
18805785 |
2008 |
|
rs72556554
|
|
|
0.030 |
GeneticVariation |
BEFREE |
By comparison, the TREX1 R114H homozygous mutation causes AGS and is found as a heterozygous mutation in systemic lupus erythematosus.
|
18805785 |
2008 |
|
rs78846775
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Mutations in TREX1 at positions Asp-18 and Asp-200 to His and Asn exhibit dominant autoimmune phenotypes associated with the clinical disorders familial chilblain lupus and Aicardi-Goutières syndrome.
|
24616097 |
2014 |
|
rs78846775
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Further, the D200N- and D18N-containing TREX1 homo- and heterodimers inhibit the dsDNA degradation activity of TREX1WT enzyme, providing a likely explanation for the dominant phenotype of these TREX1 mutant alleles in AGS and FCL.
|
18805785 |
2008 |