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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
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 |
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 |
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 |
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 |
BEFREE |
This paper describes the direct and indirect involvement of deficiency and/or modification of catalase in the pathogenesis of some important diseases such as diabetes mellitus, Alzheimer's disease, Parkinson's disease, vitiligo, and acatalasemia.
|
31827713 |
2019 |
Acatalasia
|
0.700 |
Therapeutic
|
disease |
CTD_human |
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.
|
11001624 |
2000 |
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 |
GeneticVariation
|
disease |
BEFREE |
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia.
|
9237564 |
1997 |
Acatalasia
|
0.700 |
Therapeutic
|
disease |
CTD_human |
Molecular analysis of human acatalasemia. Identification of a splicing mutation.
|
2308162 |
1990 |
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 |
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 |
Therapeutic
|
disease |
CTD_human |
Detection of a common mutation of the catalase gene in Japanese acatalasemic patients.
|
1551654 |
1992 |
Acatalasia
|
0.700 |
Therapeutic
|
disease |
CTD_human |
Hereditary catalase deficiencies and increased risk of diabetes.
|
11117918 |
2000 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.
|
11001624 |
2000 |
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 |
AlteredExpression
|
disease |
BEFREE |
Inactivation of cellular catalase enzyme is known to cause several diseases such as acatalasemia, type 2 diabetes mellitus, and vitiligo.
|
30583218 |
2019 |
Acatalasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.
|
11001624 |
2000 |
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 |
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 |
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 |