Cytochrome-c Oxidase Deficiency
|
0.620 |
GeneticVariation
|
disease |
BEFREE |
The accumulation of H(2)S over time causes progressive COX deficiency in animal tissues and human cells, which is associated with reduced amount of COX holoenzyme, and of several COX subunits, including mitochondrially encoded cytochrome c oxidase 1 (MTCO1), MTCO2, COX4, and COX5A.
|
20812865 |
2011 |
Cytochrome-c Oxidase Deficiency
|
0.620 |
GermlineCausalMutation
|
disease |
ORPHANET |
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.
|
16284789 |
2006 |
Cytochrome-c Oxidase Deficiency
|
0.620 |
GeneticVariation
|
disease |
UNIPROT |
Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient.
|
16284789 |
2006 |
Cytochrome-c Oxidase Deficiency
|
0.620 |
GeneticVariation
|
disease |
UNIPROT |
Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.
|
12140182 |
2002 |
Cytochrome-c Oxidase Deficiency
|
0.620 |
GermlineCausalMutation
|
disease |
ORPHANET |
Metabolic consequences of a novel missense mutation of the mtDNA CO I gene.
|
12140182 |
2002 |
Cytochrome-c Oxidase Deficiency
|
0.620 |
GermlineCausalMutation
|
disease |
ORPHANET |
Cytochrome c oxidase deficiency.
|
11579424 |
2001 |
Cytochrome-c Oxidase Deficiency
|
0.620 |
Biomarker
|
disease |
BEFREE |
In the following article, the phenotypes of the two Ptgs (genes coding for COX-1 and COX-2) knockouts are summarized, and recent studies to investigate the effects of COX deficiency on cancer susceptibility, inflammatory response, gastric ulceration, and female reproductive processes are discussed.
|
10487525 |
1999 |
Cytochrome-c Oxidase Deficiency
|
0.620 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
MELAS Syndrome
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.
|
22832341 |
2012 |
MELAS Syndrome
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
A novel mitochondrial DNA mutation in COX1 leads to strokes, seizures, and lactic acidosis.
|
19568996 |
2008 |
MELAS Syndrome
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.
|
8019558 |
1994 |
MELAS Syndrome
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Colorectal Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In the present study, COX‑1 was identified to be markedly upregulated in colorectal tissues of patients with CRC, and in the CRC cell lines HCT116 and HT29.
|
30320345 |
2019 |
Colorectal Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
In total, 50 colorectal cases including 10 control cases of colectomy for non-neoplastic condition, 15 cases of adenomatous colorectal polyps, and 25 cases of colorectal carcinoma were investigated in this retrospective study for immunohistochemical expression of CcOI.
|
28362707 |
2018 |
Colorectal Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Noticeably, the expression of MT-COI was overexpressed in late colorectal carcinomas among all studied transcripts.
|
27333991 |
2016 |
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
EGF receptor and COX-1/COX-2 enzyme proteins as related to corresponding mRNAs in human per-operative biopsies of colorectal cancer.
|
24171795 |
2013 |
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
After ginger consumption, participants at increased risk for CRC had a significantly reduced colonic COX-1 protein level (23.8±41%) compared with the placebo group (18.9±52%; P=0.03).
|
23222413 |
2013 |
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
|
19218458 |
2009 |
Colorectal Carcinoma
|
0.500 |
GeneticVariation
|
disease |
UNIPROT |
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
|
16407113 |
2006 |
Colorectal Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
To cast light on the role(s) of COX enzymes in the development and progression of colorectal cancers and to determine the incidence of COX-2 overexpression, the expression levels of COX-1 and COX-2 proteins using Western blot analysis in tumor tissues and adjacent normal tissues obtained from 44 Thai patients with colorectal cancer.
|
15075004 |
2004 |
Colorectal Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Both gastrin and CCK(B)-R mRNA were detected in the cancer tissue and resection margin by RT-PCR, and similarly, COX-1 and COX-2 mRNA were expressed in these tissues of most CRCs.
|
12353842 |
2002 |
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Meloxicam (preferential COX-2 inhibitor) inhibits the growth of COX-2 positive and COX-1 negative colorectal cancer cells.
|
11062695 |
2000 |
Colorectal Carcinoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Chemopreventive effects of NSAIDs against colorectal cancer: regulation of apoptosis and mitosis by COX-1 and COX-2.
|
9589912 |
1998 |
Colorectal Carcinoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
COX-1 and COX-2 messenger RNA (mRNA) levels were determined by Northern blot analysis of poly(A)+ RNA isolated from human colorectal cancers, adenomas, and accompanying normal mucosa.
|
7926468 |
1994 |
Colorectal Carcinoma
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|