Substance Withdrawal Syndrome
|
0.300 |
Biomarker
|
disease |
CTD_human |
Nicotine and Delta(9)-tetrahydrocannabinol withdrawal induce Narp in the central nucleus of the amygdala.
|
19084905 |
2009 |
Malignant neoplasm of pancreas
|
0.060 |
PosttranslationalModification
|
disease |
BEFREE |
The quantitative analysis of NPTX2 hypermethylation may play a role in making highly sensitive and less invasive diagnosis of pancreatic cancer.
|
17895837 |
2007 |
Malignant neoplasm of pancreas
|
0.060 |
Biomarker
|
disease |
BEFREE |
Additionally, a full-length NPTX2 cDNA was transfected into pancreatic cancer cells (PANC-1) and we obtained the stably transfected cells (PANC-1-NPTX2).
|
21161403 |
2011 |
Malignant neoplasm of pancreas
|
0.060 |
PosttranslationalModification
|
disease |
BEFREE |
The objective of this study is to investigate the abnormal patterns of DNA methylation of NPTX2 in pancreatic cancers, and its role in the transcriptional silencing of NPTX2.
|
22806544 |
2012 |
Malignant neoplasm of pancreas
|
0.060 |
PosttranslationalModification
|
disease |
BEFREE |
The role of quantitative NPTX2 hypermethylation as a novel serum diagnostic marker in pancreatic cancer.
|
21778928 |
2012 |
Malignant neoplasm of pancreas
|
0.060 |
PosttranslationalModification
|
disease |
BEFREE |
There was a significant difference in NPTX2 methylation between pancreatic cancer and chronic pancreatitis (P < 0.01).
|
23360791 |
2013 |
Malignant neoplasm of pancreas
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
These genes include UCHL1 (methylated in 100% of 42 pancreatic cancers), NPTX2 (98%), SARP2 (95%), CLDN5 (93%), reprimo (86%), LHX1 (76%), WNT7A (71%), FOXE1 (69%), TJP2 (64%), CDH3 (19%), and ST14 (10%).
|
12839967 |
2003 |
Neuropathy ataxia and retinis pigmentosa
|
0.060 |
Biomarker
|
disease |
BEFREE |
A mutation (m.9176 T > G) of the mitochondrial ATP6 gene that replaces an universally conserved leucine residue into arginine at amino acid position 217 of human subunit a (aL<sub>217</sub>R) has been associated to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) and MILS (Maternally Inherited Leigh's Syndrome) diseases.
|
30414414 |
2019 |
Neuropathy ataxia and retinis pigmentosa
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Description of the ophthalmic manifestations of the NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome that is associated with a point mutation in position 8993 of the mitochondrial DNA (mtDNA).
|
10396197 |
1999 |
Neuropathy ataxia and retinis pigmentosa
|
0.060 |
Biomarker
|
disease |
BEFREE |
To verify whether enhanced substrate-level phosphorylation increases viability and adenosine 5'-triphosphate (ATP) content of cells with neuropathy, ataxia, and retinitis pigmentosa/maternally inherited Leigh syndrome (NARP/MILS) mitochondrial DNA mutations and ATP synthase dysfunction.
|
19667215 |
2009 |
Neuropathy ataxia and retinis pigmentosa
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
In the present study we show that the function of the F1F0-ATPase is impaired in lymphocytes from ten individuals harbouring the mtDNA T8993G point mutation associated with NARP (neuropathy, ataxia and retinitis pigmentosa) and Leigh syndrome.
|
16402916 |
2006 |
Neuropathy ataxia and retinis pigmentosa
|
0.060 |
Biomarker
|
disease |
BEFREE |
These include NARP (neuropathy, ataxia, and retinitis pigmentosa), MILS (maternally inherited Leigh syndrome), and FBSN (familial bilateral striatal necrosis).
|
11735378 |
2001 |
Neuropathy ataxia and retinis pigmentosa
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
We have investigated mitochondrial function in lymphocytes from individuals carrying the 8993T>C mutation: the results were compared with data from five 8993T>G NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) patients.
|
17568559 |
2007 |
Leigh Disease
|
0.050 |
Biomarker
|
disease |
BEFREE |
There are a set of recurrent point mutations in the mitochondrial DNA (mtDNA) that are responsible for common mitochondrial diseases, including MELAS (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes), MERRF (myoclonic epilepsy and ragged red fibers), LHON (Leber's hereditary optic neuropathy), NARP (neuropathy, ataxia, retinitis pigmentosa), and Leigh syndrome.
|
22215554 |
2012 |
Leigh Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
In the present study we show that the function of the F1F0-ATPase is impaired in lymphocytes from ten individuals harbouring the mtDNA T8993G point mutation associated with NARP (neuropathy, ataxia and retinitis pigmentosa) and Leigh syndrome.
|
16402916 |
2006 |
Leigh Disease
|
0.050 |
Biomarker
|
disease |
BEFREE |
It was commonly observed in subjects with chronic progressive external ophthalmoplegia (cPEO) and with primary myopathy without cPEO, but also-although less frequently-in multisystem phenotypes such as MELAS, MERFF, Kearns Sayre syndrome, NARP, MNGIE and Leigh syndrome.
|
30710167 |
2019 |
Leigh Disease
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Mitochondrial m.8993T>G and m.8993T>C mutations are responsible for both NARP (neurogenic weakness, ataxia and retinitis pigmentosa) and Leigh syndrome depending on the amount of mutant mtDNA.
|
19046652 |
2009 |
Leigh Disease
|
0.050 |
Biomarker
|
disease |
BEFREE |
Prenatal diagnosis and preimplantation genetic diagnosis for couples at increased risk of having children with mtDNA-associated Leigh syndrome or NARP are possible by analysis of mtDNA extracted from non-cultured fetal cells or from single blastomeres, respectively.
|
28946177 |
2018 |
RHYNS syndrome
|
0.050 |
Biomarker
|
disease |
BEFREE |
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
|
29054413 |
2017 |
RHYNS syndrome
|
0.050 |
Biomarker
|
disease |
BEFREE |
To obtain a better molecular definition of patients with syndromic retinitis pigmentosa, we screened for mitochondrial DNA (mtDNA) alterations of the two ATPase genes and 22 tRNA-coding sequences in 10 patients whose features resembled NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
|
9222207 |
1997 |
RHYNS syndrome
|
0.050 |
Biomarker
|
disease |
BEFREE |
The importance of mitochondrial biogenesis in the pathogenesis of mitochondrial diseases has been widely recognised but little is known about it with regard to NARP (Neuropathy, Ataxia and Retinitis Pigmentosa) syndrome.
|
21550418 |
2011 |
RHYNS syndrome
|
0.050 |
Biomarker
|
disease |
BEFREE |
Here we establish a rapid, yeast-based assay to screen for drugs active against human inherited mitochondrial diseases affecting ATP synthase, in particular NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
|
21715656 |
2011 |
RHYNS syndrome
|
0.050 |
Biomarker
|
disease |
BEFREE |
Patient 3 suffers from ataxia, neuropathy, ophtalmoplegia and retinitis pigmentosa suggestive of NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome.
|
11589167 |
2001 |
Alzheimer's Disease
|
0.040 |
Biomarker
|
disease |
BEFREE |
A protein called NPTX2 may be a useful marker of neural circuit defects in patients with Alzheimer's disease.
|
28440224 |
2017 |
Alzheimer's Disease
|
0.040 |
Biomarker
|
disease |
BEFREE |
NPTX2 in human CSF is reduced in subjects with AD and shows robust correlations with cognitive performance and hippocampal volume.
|
28440221 |
2017 |