|
3-Methylglutaconic aciduria type 3
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We will consider mtDNA based syndromes such as LHON/dystonia/Mitochondrial Encephalomyopahty Lactic Acidosis Stroke-like (MELAS)/Leigh overlapping syndrome, or nuclear based diseases such as Friedreich ataxia (mutations in FXN gene), deafness-dystonia-optic atrophy (Mohr-Tranebjerg) syndrome (mutations in TIMM8A), complicated hereditary spastic paraplegia (mutations in SPG7), DOA "plus" syndromes (mutations in OPA1), Charcot-Marie-Tooth type 2A (CMT2A) with optic atrophy or hereditary motor and sensory neuropathy type VI (HMSN VI) (mutations in MFN2), and Costeff syndrome and DOA with cataract (mutations in OPA3).
|
19268652 |
2009 |
|
Abnormal blistering of the skin
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Abnormal visual evoked potential
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Abnormality of dental enamel
|
0.100 |
CausalMutation
|
group |
CLINVAR |
|
|
|
|
Abnormality of the dentition
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
Abnormality of the spinal cord
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|
|
Absent reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Acute Lung Injury
|
0.200 |
Biomarker
|
disease |
RGD |
Effect of ambient PM(2.5) on lung mitochondrial damage and fusion/fission gene expression in rats.
|
25560372 |
2015 |
|
Acute-On-Chronic Liver Failure
|
0.020 |
Biomarker
|
disease |
BEFREE |
We explored the biological mechanisms of Mfn2-induced autophagy and apoptosis of ACLF through Western blotting, Quantitative Real-Time PCR (RT-PCR), transmission electron microscopy, immunofluorescence, immunohistochemical staining, and hematoxylin-eosin staining.
|
31231215 |
2019 |
|
Acute-On-Chronic Liver Failure
|
0.020 |
AlteredExpression
|
disease |
BEFREE |
Mfn2 improved the expressions of LC3-II, Atg5 and Bcl-2 and down-regulated the expression of P62 and Bax in ACLF.
|
31557386 |
2019 |
|
Adenocarcinoma
|
0.010 |
Biomarker
|
group |
BEFREE |
When HSG-S8 and parental HSG cells were transplanted into nude mice i.m. or s.c., both cells reproducibly induced adenocarcinoma.
|
8439320 |
1993 |
|
Adenocarcinoma of lung (disorder)
|
0.030 |
Biomarker
|
disease |
BEFREE |
Transcriptional profiling revealed the anti-proliferative effect of MFN2 deficiency and identified risk factors in lung adenocarcinoma.
|
26733181 |
2016 |
|
Adenocarcinoma of lung (disorder)
|
0.030 |
Biomarker
|
disease |
BEFREE |
The present study aims to investigate the effects of HSG gene silencing on proliferation and apoptosis of lung adenocarcinoma A549 cells.
|
30061179 |
2018 |
|
Adenocarcinoma of lung (disorder)
|
0.030 |
Biomarker
|
disease |
BEFREE |
Taken together, our study unraveled the tumor-promoting functions of MFN2 in lung adenocarcinoma and implicated that the role of MFN2 in cancer development might be more complicated than expected and should be explored in detail in the future.
|
25796500 |
2015 |
|
Adenocarcinoma of salivary gland
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We first determined the expression levels of Id1 and Id2 in four SGC cell lines: two adenocarcinoma of the salivary gland (HSG and HSY) and two adenoid cystic carcinoma (ACC2 and ACCM) cell lines.
|
23517130 |
2013 |
|
Adenoid Cystic Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
We first determined the expression levels of Id1 and Id2 in four SGC cell lines: two adenocarcinoma of the salivary gland (HSG and HSY) and two adenoid cystic carcinoma (ACC2 and ACCM) cell lines.
|
23517130 |
2013 |
|
Adult Liver Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Altogether, our findings revealed the importance of the LATS2/AMPK/MFN2/mitophagy axis in understanding sorafenib resistance mechanisms, with a potential application to increase the sensitivity response of sorafenib in the treatment of liver cancer.
|
30923462 |
2019 |
|
Adult Liver Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Consequently, hepatic Mfn2 deficiency reduces PS transfer and phospholipid synthesis, leading to endoplasmic reticulum (ER) stress and the development of a NASH-like phenotype and liver cancer.
|
31051106 |
2019 |
|
Agenesis of corpus callosum
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The recognized CMT2 genotypes include: CMT2A (mapped to chromosome 1p35-36); CMT2B (3q13-22); CMT2C (with vocal cord paresis); CMT2D (7p14); CMT2E, related to a mutation in the NF-L gene on chromosome 8p21; proximal CMT2, or HMSN P (3q13.1); CMT2 with MPZ mutations; autosomal recessive CMT2 (1q21.2-q21.3); agenesis of the corpus callosum with sensorimotor neuronopathy (15q13-q15); CMT2 X-linked with deafness and mental retardation (Xq24-q26).
|
11231025 |
2001 |
|
Allodynia
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Involvement of Charcot-Marie-Tooth disease gene mitofusin 2 expression in paclitaxel-induced mechanical allodynia in rats.
|
28587902 |
2017 |
|
Alzheimer Disease, Late Onset
|
0.010 |
Biomarker
|
disease |
BEFREE |
Association between Mitofusin 2 Gene Polymorphisms and Late-Onset Alzheimer's Disease in the Korean Population.
|
28096879 |
2017 |
|
Alzheimer's Disease
|
0.260 |
AlteredExpression
|
disease |
BEFREE |
Immunoblot analysis revealed that levels of DLP1 (also referred to as Drp1), OPA1, Mfn1, and Mfn2 were significantly reduced whereas levels of Fis1 were significantly increased in AD.
|
19605646 |
2009 |
|
Alzheimer's Disease
|
0.260 |
Biomarker
|
disease |
BEFREE |
Moreover, levels of mitochondrial fusion proteins (optic atrophy 1 and mitofusin 2) and fission proteins (dynamin-related protein 1 and fission 1) were altered in transgenic mice compared with controls with progression of AD.
|
28118288 |
2017 |
|
Alzheimer's Disease
|
0.260 |
AlteredExpression
|
disease |
BEFREE |
Using cytoplasmic hybrid (cybrid) neurons with incorporated platelet mitochondria from AD and age-matched non-AD human subjects into mitochondrial DNA (mtDNA)-depleted neuronal cells, we observed that AD cybrid cells had significant changes in morphology and function; such changes associate with altered expression and distribution of dynamin-like protein (DLP1) and mitofusin 2 (Mfn2).
|
24252614 |
2014 |
|
Alzheimer's Disease
|
0.260 |
Biomarker
|
disease |
RGD |
Swimming attenuates d-galactose-induced brain aging via suppressing miR-34a-mediated autophagy impairment and abnormal mitochondrial dynamics.
|
28302704 |
2017 |