Hermanski-Pudlak Syndrome
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
|
12923531 |
2003 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We examined the effect of polymorphisms of two candidate genes that mediate glutamatergic signaling, viz., dysbindin (rs1011313) and neuregulin (rs35753505), on brain morphometry in patients with schizophrenia (N=38) and healthy subjects (N=37) from South India.
|
25042954 |
2014 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
As a direct interaction between dysbindin and AP-3 complex was reported, we examined a possible association between 16 SNPs in the AP3 complex genes and schizophrenia using 432 cases and 656 controls.
|
19481122 |
2009 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We found a new schizophrenia risk and protective haplotypes in intron VII of DTNBP1; one of the most important candidate genes for this disorder, to-date.
|
17408693 |
2008 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Despite this apparent paradox, our data may therefore suggest involvement of PIP4K2A in schizophrenia in those families for whom genetic variation in DTNBP1 appears also to be a risk factor.
|
19475563 |
2010 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To test this, we examined the impact on visual processing in 61 healthy children aged 10-12 years of a genetic variant in DTNBP1 (rs2619538) that was common to all schizophrenia associated haplotypes in an earlier UK-Irish study.
|
19631276 |
2010 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Analysis of high-resolution HapMap of DTNBP1 (Dysbindin) suggests no consistency between reported common variant associations and schizophrenia.
|
17033966 |
2006 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Dysbindin and d-amino-acid-oxidase gene polymorphisms associated with positive and negative symptoms in schizophrenia.
|
19729970 |
2009 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This study provides further evidence from a large case/control sample for association of common DTNBP1 alleles and haplotypes with schizophrenia.
|
19800201 |
2009 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data provide complementary evidence for chromosome 8p as a susceptibility locus for schizophrenia, and suggest that genetic variation within this region may influence risk, at least in part, through effects on DTNBP1 expression.
|
18182443 |
2008 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report an association between DTNBP1 genotype and general cognitive ability (g) in two independent cohorts, including 213 patients with schizophrenia or schizo-affective disorder and 126 healthy volunteers.
|
16415041 |
2006 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The human dystrobrevin binding protein 1 (DTNBP1) gene has been linked to risk for schizophrenia.
|
21130223 |
2010 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
DTNBP1 promoter DNA methylation may become a key element in a panel of biomarkers for diagnosis, prevention, or therapy in SCZ and at risk individuals pending confirmatory studies with larger sample sizes to attain a higher degree of significance.
|
26285059 |
2015 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our results, based on one of the largest samples of European Caucasians and using narrowly-defined criteria for SCZ, do not support the etiological involvement of Dysbindin markers in SCZ.
|
20083391 |
2010 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Additionally, several important candidate genes for schizophrenia, such as dysbindin, are involved in processes closely linked to CME and membrane trafficking.
|
21986877 |
2012 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
However, it remains unknown whether deletion of dysbindin-1 impacts functions of the amygdala, a brain region that is critical for emotional processing, which is disrupted in patients with schizophrenia.
|
30967545 |
2019 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The possible association between a single nucleotide polymorphism (SNP) of DTNBP1 (rs2619539: P1655), which is a risk-independent SNP for schizophrenia in Japanese populations, and memory and IQ was investigated in 70 schizophrenia patients and 165 healthy volunteers in a Japanese population.
|
19496996 |
2009 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we discovered prevalent and novel cellular roles of the BLOC-1 complex in neuronal cells by performing large-scale Stable Isotopic Labeling of Cells in Culture (SILAC) quantitative proteomics combined with genetic analyses in dysbindin-null mice (Mus musculus) and the genome of schizophrenia patients.
|
22423091 |
2012 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Several genes related to glutamate function, e.g. the DTNBP1, G72, and GRM3 genes, were shown to be associated with schizophrenia susceptibility.
|
19482054 |
2009 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Single-nucleotide polymorphisms (SNPs) were genotyped in the DTNBP1 (dysbindin), G72/G30 and RGS4 genes, and the relatively unknown PIP5K2A gene, which is located in a region of linkage with both schizophrenia and bipolar disorder.
|
17410640 |
2007 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Although the results are preliminary and needed replication in a larger sample, this study suggests that NMDA receptor-mediated signalling genes (DAO, PPP3CC, DTNBP1) might be involved in schizophrenia pathogenic mechanisms related to gender.
|
23497497 |
2013 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Several disposition genes for schizophrenia (DTNBP1, NRG1, G72) were identified, whereas evidence for specific disposition genes in bipolar disorder is more limited.
|
14677079 |
2003 |
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The dysbindin gene is located at chromosome 6p22.3, one of the most promising susceptibility loci in schizophrenia linkage studies.
|
15345706 |
2004 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Functional studies correlating CMYA5 with DTNBP1 and PKA warrant further investigation of the molecular basis of this gene in relationship to the signal transduction pathway(s) underlying the pathogenesis of schizophrenia.
|
23778016 |
2013 |
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Indeed, the DLPFC of schizophrenia cases exhibit increased PSD-95 and erbB4 and decreased receptor-type tyrosine-protein phosphatase-α (RPTPα) and dysbindin-1, each of which reduces Src activity via protein interaction with Src.
|
25330739 |
2015 |