×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
Biomarker
disease
CTD_human
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia .
11001624
2000
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
Biomarker
disease
CTD_human
Hereditary catalase deficiencies and increased risk of diabetes.
11117918
2000
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
Biomarker
disease
CTD_human
Molecular analysis of human acatalasemia. Identification of a splicing mutation.
2308162
1990
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
Therapeutic
disease
CTD_human
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia .
11001624
2000
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
GeneticVariation
disease
BEFREE
Polymorphism of 5' of the catalase gene in Hungarian acatalasemia and hypocatalasemia.
9237564
1997
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
Therapeutic
disease
CTD_human
Molecular analysis of human acatalasemia. Identification of a splicing mutation.
2308162
1990
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
Therapeutic
disease
CTD_human
Detection of a common mutation of the catalase gene in Japanese acatalasemic patients.
1551654
1992
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
Therapeutic
disease
CTD_human
Hereditary catalase deficiencies and increased risk of diabetes.
11117918
2000
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
GermlineCausalMutation
disease
ORPHANET
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia .
11001624
2000
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
GeneticVariation
disease
BEFREE
Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia .
11001624
2000
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
0.700
Biomarker
disease
CTD_human
Detection of a common mutation of the catalase gene in Japanese acatalasemic patients.
1551654
1992
×
Entrez Id:
847
Gene Symbol:
CAT
CAT
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