Myeloperoxidase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Despite its roles in innate immunity, the importance of MPO in preventing infection is unclear, as individuals with MPO deficiency are asymptomatic with the exception of an increased risk of candidiasis.
|
31002727 |
2019 |
Myeloperoxidase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we produced hematologic chimerism in the 5XFAD mouse model of AD, with MPO deficient mice, resulting in 5XFAD with hematologic MPO deficiency (5XFAD-MPO KO).
|
31611761 |
2019 |
Myeloperoxidase Deficiency
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The <sup>18</sup>F-MAPP PET imaging noninvasively differentiated varying amounts of MPO activity, competitive inhibition, and MPO deficiency in living animals, confirming specificity and showing that the radioprobe can quantify changes in in vivo MPO activity.
|
31123149 |
2019 |
Myeloperoxidase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Therefore, MPO inhibition with ABAH or MPO deficiency creates a protective environment that decreased inflammatory cell recruitment and increased expression of survival factors to improve functional outcome.
|
29673284 |
2019 |
Myeloperoxidase Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic characterization of myeloperoxidase deficiency in Italy.
|
15108282 |
2004 |
Myeloperoxidase Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical manifestation of myeloperoxidase deficiency.
|
9766845 |
1998 |
Myeloperoxidase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In addition, application of the analytical tools of cell and molecular biology has allowed definition of specific genotypes underlying MPO deficiency and the impact of particular mutations on the fate of MPO precursors along the biosynthetic pathway.
|
9766843 |
1998 |
Myeloperoxidase Deficiency
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins.
|
9637725 |
1998 |
Myeloperoxidase Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We identified a novel missense mutation in the MPO gene at codon 173 whereby tyrosine is replaced with cysteine (Y173C) that is associated with MPO deficiency and assessed its impact on MPO processing and targeting in transfectants expressing normal or mutant proteins.
|
9637725 |
1998 |
Myeloperoxidase Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Biochemical and molecular characterization of hereditary myeloperoxidase deficiency.
|
9354683 |
1997 |
Myeloperoxidase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We recently identified a missense mutation, R569W, in the MPO gene of many subjects with MPO deficiency.
|
8621627 |
1996 |
Myeloperoxidase Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We recently identified a missense mutation, R569W, in the MPO gene of many subjects with MPO deficiency.
|
8621627 |
1996 |
Myeloperoxidase Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Our results suggest that a point mutation at codon 569 of MPO gene represents one molecular form of MPO deficiency.
|
8142659 |
1994 |
Myeloperoxidase Deficiency
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan.
|
7904599 |
1994 |
Myeloperoxidase Deficiency
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Hereditary myeloperoxidase deficiency due to a missense mutation of arginine 569 to tryptophan.
|
7904599 |
1994 |
Myeloperoxidase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
We conclude from these studies that (a) hereditary MPO deficiency is not associated with a major deletion or rearrangement of the MPO gene; (b) myeloid precursors in an MPO-deficient individual contain normal amounts of an mRNA that is the same size as that for MPO in normal individuals; and (c) the genetic basis for MPO deficiency may be heterogeneous, with at least two genotypes generating the same phenotype.
|
2462938 |
1989 |
Myeloperoxidase Deficiency
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Myeloperoxidase deficiency is likely a result of a mutation of the gene coding for myeloperoxidase.
|
2673450 |
1989 |
Myeloperoxidase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
Although the contribution of myeloperoxidase to the chemiluminescence assay has been noted, the possible diagnostic confusion between chronic granulomatous disease of childhood (which is rare and severe) and myeloperoxidase deficiency (which is common and of little clinical consequence) has not been stressed.
|
6297833 |
1983 |
Myeloperoxidase Deficiency
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Hereditary myeloperoxidase deficiency.
|
6260268 |
1981 |
Myeloperoxidase Deficiency
|
0.800 |
Biomarker
|
disease |
BEFREE |
In close relatives of the patient, MPO values were found to be diminshed to a greater or lesser degree, thus suggesting variable expressivity of the heterozygote state of MPO deficiency.
|
216438 |
1979 |
Myeloperoxidase Deficiency
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|