SPINOCEREBELLAR ATAXIA 23
|
0.740 |
Biomarker
|
disease |
BEFREE |
In this study we aimed to assess the frequency of PDYN gene defects and extend the phenotype of SCA23 patients in a UK ataxia series and also in patients from Greece, Egypt and India.
|
23108490 |
2013 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases.
|
23471613 |
2013 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
In this study we aimed to assess the frequency of PDYN gene defects and extend the phenotype of SCA23 patients in a UK ataxia series and also in patients from Greece, Egypt and India.
|
23108490 |
2013 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
We have recently identified missense mutations in prodynorphin (PDYN), the precursor to dynorphin opioid peptides, as the cause for spinocerebellar ataxia (SCA23) in Dutch ataxia cases.
|
23471613 |
2013 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
We previously identified four missense mutations in the prodynorphin gene that cause human neurodegenerative disorder spinocerebellar ataxia type 23 (SCA23).
|
22531488 |
2012 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain.
|
21712028 |
2011 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
|
21035104 |
2010 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
|
21035104 |
2010 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
|
21035104 |
2010 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
|
21035104 |
2010 |
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SPINOCEREBELLAR ATAXIA 23
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
Alcoholic Intoxication, Chronic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
PDYN downregulation was confined to subgroup of subjects carrying C, a high-risk allele of PDYN promoter SNP rs1997794 associated with alcoholism.
|
29925858 |
2018 |
Alcoholic Intoxication, Chronic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Association with alcoholism was observed for rs2235751 and the presence of the minor allele G was associated with reduced DNA methylation at PDYN promoter in females and younger subjects.
|
28336495 |
2017 |
Alcoholic Intoxication, Chronic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our findings suggest that sex-dependent effects of PDYN variants in alcohol dependence are phenotype-specific.
|
26502829 |
2015 |
Alcoholic Intoxication, Chronic
|
0.600 |
Biomarker
|
disease |
PSYGENET |
In a nutshell, transition of a single nucleotide may modify differential DNA-protein interactions at OPRK1 and PDYN׳s SNPs, significantly associated with pathology that may lead to altered individual vulnerability for alcohol dependence.
|
25177835 |
2014 |
Alcoholic Intoxication, Chronic
|
0.600 |
Biomarker
|
disease |
BEFREE |
In a nutshell, transition of a single nucleotide may modify differential DNA-protein interactions at OPRK1 and PDYN׳s SNPs, significantly associated with pathology that may lead to altered individual vulnerability for alcohol dependence.
|
25177835 |
2014 |
Alcoholic Intoxication, Chronic
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
These findings support the hypothesis that sequence variation in the PDYN gene contributes to both alcohol dependence and the induction of negative craving in alcohol-dependent subjects.
|
23101464 |
2013 |
Alcoholic Intoxication, Chronic
|
0.600 |
Biomarker
|
disease |
PSYGENET |
Thus, the data obtained suggest no association of the selected polymorphisms of the genes OPRM1/POMC and OPRK1/PDYN with alcoholism in Croatian population.
|
24035285 |
2013 |
Alcoholic Intoxication, Chronic
|
0.600 |
Biomarker
|
disease |
BEFREE |
Thus, the data obtained suggest no association of the selected polymorphisms of the genes OPRM1/POMC and OPRK1/PDYN with alcoholism in Croatian population.
|
24035285 |
2013 |
Alcoholic Intoxication, Chronic
|
0.600 |
Biomarker
|
disease |
PSYGENET |
Different alcohol exposures induce selective alterations on the expression of dynorphin and nociceptin systems related genes in rat brain.
|
21507157 |
2013 |
Alcoholic Intoxication, Chronic
|
0.600 |
Biomarker
|
disease |
PSYGENET |
These findings support the hypothesis that sequence variation in the PDYN gene contributes to both alcohol dependence and the induction of negative craving in alcohol-dependent subjects.
|
23101464 |
2013 |