Acatalasia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
The human hereditary disease Acatalasia (AC) is characterized by low or no catalase activity in all body tissues.
|
3377795 |
1988 |
Acatalasia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Molecular analysis of human acatalasemia. Identification of a splicing mutation.
|
2308162 |
1990 |
Acatalasia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
By using a series of E. coli strains differing in DNA repair capabilities and catalase proficiency, sensitivity to inactivation by anthracene plus NUV was correlated with catalase deficiency rather than with particular repair deficiencies.
|
1962859 |
1990 |
Acatalasia
|
0.700 |
Therapeutic
|
disease |
CTD_human |
Molecular analysis of human acatalasemia. Identification of a splicing mutation.
|
2308162 |
1990 |
Acatalasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The abnormalities in acatalasemia at the gene level as well as properties of the residual catalase in Japanese acatalasemia are historically reviewed.
|
1999334 |
1991 |
Acatalasia
|
0.700 |
Therapeutic
|
disease |
CTD_human |
Detection of a common mutation of the catalase gene in Japanese acatalasemic patients.
|
1551654 |
1992 |
Acatalasia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Detection of a common mutation of the catalase gene in Japanese acatalasemic patients.
|
1551654 |
1992 |
Acatalasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia.
|
9237564 |
1997 |
Acatalasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A T-deletion at position 10 of exon 4 for catalase gene was reported as a novel mutation, causing a new genetic type of acatalasemia in Japan.
|
9420149 |
1997 |
Acatalasia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
None of these mutations may be the causal mutation(s) of acatalasemia as each of these nucleotide substitutions were detected in healthy subjects with normal blood catalase activity.
|
9564558 |
1998 |
Acatalasia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.
|
11001624 |
2000 |
Acatalasia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Hereditary catalase deficiencies and increased risk of diabetes.
|
11117918 |
2000 |
Acatalasia
|
0.700 |
Therapeutic
|
disease |
CTD_human |
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.
|
11001624 |
2000 |
Acatalasia
|
0.700 |
Therapeutic
|
disease |
CTD_human |
Hereditary catalase deficiencies and increased risk of diabetes.
|
11117918 |
2000 |
Acatalasia
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.
|
11001624 |
2000 |
Acatalasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.
|
11001624 |
2000 |
Acatalasia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Decreases in catalase activity in patients with tumors is more likely to be due to decreased enzyme synthesis rather than to catalase mutations.Acatalasemia, the inherited deficiency of catalase has been detected in 11 countries.
|
15771551 |
2004 |
Acatalasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Detection of a novel familial catalase mutation (Hungarian type D) and the possible risk of inherited catalase deficiency for diabetes mellitus.
|
15800961 |
2005 |
Acatalasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Blood catalase activity, -262C>T polymorphism and acatalasemia mutations were examined in 75 vitiligo patients and in 162 controls, in Hungary.
|
21947853 |
2012 |
Acatalasia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We treated pregnant mice expressing either high (hCat) or low catalase activity (aCat), or their wild-type (WT) controls, with either MeOH (4g/kg ip) or saline. hCat mice and WTs were similarly susceptible to MeOH-initiated ophthalmic abnormalities and cleft palates. aCat and WT mice appeared resistant, precluding assessment of the developmental impact of catalase deficiency.
|
23207165 |
2013 |
Acatalasia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In patients with decreased blood catalase, the incidence of acatalasemia mutations was significantly high (P<0.0002) in microcytic anemia, type 2 and gestational diabetes.
|
25772105 |
2015 |
Acatalasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In patients with decreased blood catalase, the incidence of acatalasemia mutations was significantly high (P<0.0002) in microcytic anemia, type 2 and gestational diabetes.
|
25772105 |
2015 |
Acatalasia
|
0.700 |
Biomarker
|
disease |
CTD_human |
Embryonic catalase protects against ethanol embryopathies in acatalasemic mice and transgenic human catalase-expressing mice in embryo culture.
|
26074427 |
2015 |
Acatalasia
|
0.700 |
Therapeutic
|
disease |
CTD_human |
Embryonic catalase protects against ethanol embryopathies in acatalasemic mice and transgenic human catalase-expressing mice in embryo culture.
|
26074427 |
2015 |
Acatalasia
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |