|
Hermanski-Pudlak Syndrome
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
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 |
Biomarker
|
disease |
BEFREE |
These data suggest that deletion of dysbindin-1A influences behaviours related to schizophrenia and anxiety more robustly in adolescence than in adulthood and that dysbindin-1A influences stress-related responses in a sex-dependent manner.
|
31556815 |
2019 |
|
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
It has been shown that dystrobrevin-binding protein 1 gene that encodes the protein dysbindin-1 is associated with risk for cognitive deficits, and studies have shown decreases in glutamate and correlated decreases in dysbindin-1 protein in the prefrontal cortex (PFC) and hippocampus of post-mortem tissue from schizophrenia patients.
|
31201475 |
2019 |
|
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
This genetic interaction between D3 and Dys suggests the D2/D3 imbalance in the PFC as a target for patient stratification and procognitive treatments in schizophrenia.
|
31492942 |
2019 |
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
Squamous cell carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The PFC and the hippocampus have been shown to play a fundamental role in cognition, and studies in dysbindin-1 null mice have shown alterations in NMDAR located in pyramidal neurons as well as perturbation in LTP and cognitive deficits.
|
31201475 |
2019 |
|
Anxiety
|
0.050 |
Biomarker
|
disease |
BEFREE |
Deletion of dysbindin-1 in male mice (Dys<sup>-/-</sup>) impaired cued and context-dependent threat memory, without changes in measures of anxiety.
|
30967545 |
2019 |
|
Anxiety
|
0.050 |
Biomarker
|
disease |
BEFREE |
These data suggest that deletion of dysbindin-1A influences behaviours related to schizophrenia and anxiety more robustly in adolescence than in adulthood and that dysbindin-1A influences stress-related responses in a sex-dependent manner.
|
31556815 |
2019 |
|
Anxiety Disorders
|
0.050 |
Biomarker
|
group |
BEFREE |
Deletion of dysbindin-1 in male mice (Dys<sup>-/-</sup>) impaired cued and context-dependent threat memory, without changes in measures of anxiety.
|
30967545 |
2019 |
|
Anxiety Disorders
|
0.050 |
Biomarker
|
group |
BEFREE |
These data suggest that deletion of dysbindin-1A influences behaviours related to schizophrenia and anxiety more robustly in adolescence than in adulthood and that dysbindin-1A influences stress-related responses in a sex-dependent manner.
|
31556815 |
2019 |
|
Cognition Disorders
|
0.050 |
GeneticVariation
|
group |
BEFREE |
The PFC and the hippocampus have been shown to play a fundamental role in cognition, and studies in dysbindin-1 null mice have shown alterations in NMDAR located in pyramidal neurons as well as perturbation in LTP and cognitive deficits.
|
31201475 |
2019 |
|
Fetal Alcohol Syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
ENTR1 regulates, via binding to the coiled coil domain protein Dysbindin, the delivery of Fas from endosomes to lysosomes thereby controlling termination of Fas signal transduction.
|
31308371 |
2019 |
|
Parkinson Disease
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The expression levels of dysbindin-1 and SATB2 in substantia nigra tissue from control mice were limited but were substantially increased (2.4-fold and 3.6-fold, respectively) in mice in the initial stage of the Parkinson's disease.
|
31539139 |
2019 |
|
Hyperactive behavior
|
0.010 |
GeneticVariation
|
phenotype |
BEFREE |
In the open field, deletion of dysbindin-1A induced hyperactivity and attenuated the action of stress to reduce hyperactivity in adolescence but not in adulthood; in females deletion of dysbindin-1A attenuated the effect of acute stress to increase anxiety-related behaviour in adolescence but not in adulthood.
|
31556815 |
2019 |
|
Schizophrenia
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
The expression of dysbindin is indeed significantly reduced in schizophrenia patients.
|
30062698 |
2018 |
|
Schizophrenia
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Similar to homeostatic plasticity, proteasome perturbation enhances presynaptic Ca<sup>2+</sup> influx, readily-releasable vesicle pool size, and does not potentiate release after loss of specific homeostatic plasticity genes, including the schizophrenia-susceptibility gene dysbindin.
|
29348419 |
2018 |
|
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Association of functional polymorphisms in 3'-untranslated regions of COMT, DISC1, and DTNBP1 with schizophrenia: a meta-analysis.
|
30252773 |
2018 |
|
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Impaired copper transport in schizophrenia results in a copper-deficient brain state: a new side to the dysbindin story.
|
30230404 |
2018 |
|
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
DTNBP1 encodes dysbindin protein, which is localized to synaptic sites and is reduced in the prefrontal cortex and hippocampus of patients with schizophrenia, indicating a potential role in schizophrenia etiology.
|
29227583 |
2018 |
|
Schizophrenia
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Dysbindin-1b expression was 26% higher in schizophrenia subjects (p = 0.01) and correlated inversely with basilar dendrite length (r = -0.31, p = 0.048) and the number of spines per basilar dendrite (r = -0.31, p = 0.048), but not with dendritic spine density (r = -0.16, p = 0.32).
|
29759351 |
2018 |
|
Impaired cognition
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These spp mice may prove useful as a novel mouse model to study cognitive deficits linked to dysbindin alterations.
|
29227583 |
2018 |
|
Cognition Disorders
|
0.050 |
GeneticVariation
|
group |
BEFREE |
These spp mice may prove useful as a novel mouse model to study cognitive deficits linked to dysbindin alterations.
|
29227583 |
2018 |
|
HERMANSKY-PUDLAK SYNDROME 7
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.
|
28259707 |
2017 |