|
Optic Atrophy, Hereditary, Leber
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Two (22%) of 9 COPN patients harbored an LHON-associated mtDNA mutation at nucleotide position 9438 and a novel mutation at nucleotide position 9738 in the cytochrome c oxidase subunit III gene.
|
7804416 |
1994 |
|
Leigh Disease
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Three cases with m.8993T>G mutation, two patients with the novel m.5523T>G and m.5559A>G mutations in the tRNA(Trp) gene, and two individuals with the undescribed m.9478T>C mutation in the cytochrome c oxidase subunit III (COXIII) gene were found with LS.
|
23301511 |
2013 |
|
Leigh Disease
|
0.120 |
GeneticVariation
|
disease |
BEFREE |
Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene.
|
20525945 |
2011 |
|
Cataract
|
0.110 |
AlteredExpression
|
disease |
BEFREE |
However, the mRNA expression levels of MTCO3 in patients with grade 3‑NUC opacification and MTCO1‑3 in patients with grade‑3 PSC opacification, along with the ATP content, were significantly lower than in patients without cataracts.
|
31059062 |
2019 |
|
Alzheimer's Disease
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
The T9861C Mutation in the mtDNA-Encoded Cytochrome C Oxidase Subunit III Gene Occurs in High Frequency but with Unequal Distribution in the Alzheimer's Disease Brain.
|
31561357 |
2019 |
|
Alzheimer's Disease
|
0.020 |
Biomarker
|
disease |
BEFREE |
The results indicate that while COX-2 remains a major player in propagating inflammmation in AD and in stressed HN cells, COX-3 may play ancillary roles in membrane-based COX signaling or when basal levels of COX-1 or COX-2 expression persist.
|
15453269 |
2004 |
|
Hepatitis B
|
0.020 |
Biomarker
|
disease |
BEFREE |
Accurately mapping the location of the binding site for the interaction between hepatitis B virus X protein and cytochrome c oxidase III.
|
25483779 |
2015 |
|
Hepatitis B
|
0.020 |
Biomarker
|
disease |
BEFREE |
Cytochrome C oxidase III interacts with hepatitis B virus X protein in vivo by yeast two-hybrid system.
|
15334674 |
2004 |
|
Malaria
|
0.020 |
Biomarker
|
disease |
BEFREE |
In this study, we designed a malaria diagnostic method involving a multiplex single-tube nested PCR targeting Plasmodium mitochondrial cytochrome c oxidase III and single-stranded tag hybridization chromatographic printed-array strip.
|
29374580 |
2018 |
|
Malaria
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Improved detection of malaria cases in island settings of Vanuatu and Kenya by PCR that targets the Plasmodium mitochondrial cytochrome c oxidase III (cox3) gene.
|
25256904 |
2015 |
|
Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Cytochrome c oxidase III was also found to be overexpressed in papillary carcinomas, while the nuclear-encoded mitochondrial transcription factor A showed similar mRNA expression levels in tumor and nontumor tissue.
|
12964965 |
2003 |
|
Neoplasms
|
0.020 |
AlteredExpression
|
group |
BEFREE |
These findings suggest that the low levels of COXIII expression exhibited in colonic tumors may represent a limiting factor in the assembly of functional cytochrome c oxidase and contribute to the depressed enzyme activity reported in these tumors.
|
1655774 |
1991 |
|
Liver carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
COXIII protein is a novel protein that can interact with X protein in vivo by yeast two-hybrid system, and may contribute to the development of HCC through the interaction with X protein.
|
15334674 |
2004 |
|
Liver carcinoma
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
The main finding of the present study was that the co-localization of HBx and COXIII leads to upregulation of the mitochondrial function and ROS generation, which are associated with the oncogenesis of HBV-associated HCC.
|
25778742 |
2015 |
|
Malignant neoplasm of breast
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A number of mtDNA mutations in breast cancer have been identified in protein-coding regions (in protein-coding genes, such as ND2, COX3, ND4, ND5 and CytB).
|
24253185 |
2014 |
|
Malignant Neoplasms
|
0.010 |
GeneticVariation
|
group |
BEFREE |
NADH dehydrogenase subunit 3, cytochrome c oxidase subunit 3 and NADH dehydrogenase subunit 4 L in particular show cancer missense mutation rates 9-18 times that of germline.
|
20613764 |
2010 |
|
Carcinoma
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Mean level of expression of cytochrome c oxidase subunit 3 decreases progressively in colon adenomas and carcinomas relative to normal mucosa in vivo, and returns to higher levels present in biopsies of normal mucosa when the HT29 human colonic adenocarcinoma cell line is induced to differentiate with sodium butyrate.
|
2154329 |
1990 |
|
Malignant tumor of colon
|
0.010 |
Biomarker
|
disease |
BEFREE |
In a panel of eight cloned complementary DNA sequences whose level of expression characterize colon cells as transformed in vivo and in vitro, one which may also serve as a marker of risk in familial polyposis and familial colon cancer flat mucosa has been identified as mitochondrial cytochrome c oxidase subunit 3.
|
2154329 |
1990 |
|
Carcinoma, Papillary
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
Cytochrome c oxidase III was also found to be overexpressed in papillary carcinomas, while the nuclear-encoded mitochondrial transcription factor A showed similar mRNA expression levels in tumor and nontumor tissue.
|
12964965 |
2003 |
|
Colonic Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
We have shown that expression levels of COXIII, a mitochondrial gene encoding one of the 13 subunits of cytochrome c oxidase, are abnormally low in colon tumors and colonic tissue at genetic risk for developing tumors but increase following in vitro treatment of HT29 human colonic adenocarcinoma cells with the fatty acid butyrate.
|
1655774 |
1991 |
|
Kidney Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
|
25701779 |
2015 |
|
Childhood Acute Lymphoblastic Leukemia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Missense or nonsense mtDNA mutations were detected in the genes encoding subunits of OXPHOS complexes, as follows: MT-ND1, MT-ND2, MT-ND4L and MT-ND6 of complex I; MT-CO3 of complex IV; and MT-ATP6 and MT-ATP8 of complex V. We discovered mtDNA mutations in childhood ALL supporting the hypothesis that non-neutral variants in mtDNA affecting the OXPHOS function may be related to leukemic clones.
|
28708239 |
2018 |
|
Neuromuscular Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
There was no family history of neuromuscular disorder and sequencing revealed a novel COX III single base pair deletion (MT-CO3{NC_012920.1}:m.[9559delC]).
|
21163656 |
2011 |
|
Adenomatous Polyposis Coli
|
0.010 |
Biomarker
|
disease |
BEFREE |
In a panel of eight cloned complementary DNA sequences whose level of expression characterize colon cells as transformed in vivo and in vitro, one which may also serve as a marker of risk in familial polyposis and familial colon cancer flat mucosa has been identified as mitochondrial cytochrome c oxidase subunit 3.
|
2154329 |
1990 |
|
Polyendocrinopathies, Autoimmune
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Two novel cosegregating mutations in tRNAMet and COX III, in a patient with exercise intolerance and autoimmune polyendocrinopathy.
|
19460300 |
2009 |