|
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 |
|
HERMANSKY-PUDLAK SYNDROME 7
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
|
HERMANSKY-PUDLAK SYNDROME 7
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
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 |
|
HERMANSKY-PUDLAK SYNDROME 7
|
0.800 |
Biomarker
|
disease |
MGD |
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 |
|
HERMANSKY-PUDLAK SYNDROME 7
|
0.800 |
Biomarker
|
disease |
MGD |
Sandy: a new mouse model for platelet storage pool deficiency.
|
1936982 |
1991 |
|
HERMANSKY-PUDLAK SYNDROME 7
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
HERMANSKY-PUDLAK SYNDROME 7
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Hermanski-Pudlak Syndrome
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
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 |
|
Hermanski-Pudlak Syndrome
|
0.610 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Hermanski-Pudlak Syndrome
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
|
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 |
|
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Dysbindin-1 is enriched in the dorsolateral prefrontal cortex and hippocampus, while postmortem brain studies of individuals with schizophrenia show decreased levels of dysbindin-1 mRNA and protein in these brain regions.
|
28937620 |
2017 |
|
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
These findings in dys-1A<sup>-/-</sup> provide the first evidence for differential functional roles for dysbindin-1A vs dysbindin-1C isoforms among phenotypes relevant to the pathobiology of schizophrenia.
|
27986973 |
2017 |
|
Schizophrenia
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Together, results indicate an important role of dysbindin-1 in neuronal activity induced SREBP1 and ARC, which could be related to cognitive deficits in schizophrenia.
|
26873854 |
2017 |
|
Schizophrenia
|
0.600 |
Biomarker
|
disease |
BEFREE |
Evidence of an epistatic effect between Dysbindin-1 and Neuritin-1 genes on the risk for schizophrenia spectrum disorders.
|
27855309 |
2017 |