EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
|
20833646 |
2010 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Schizophrenia
|
0.540 |
Biomarker
|
disease |
BEFREE |
The phosphodiesterase enzyme phospholipase C-β1 has been reported to be reduced in postmortem tissue of schizophrenia patients.
|
30517689 |
2019 |
Schizophrenia
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
Deletion of PLCB1 gene in schizophrenia-affected patients.
|
22507702 |
2012 |
Schizophrenia
|
0.540 |
AlteredExpression
|
disease |
BEFREE |
Our data confirm that phospholipase C beta 1 transcript levels are decreased in the dorsolateral prefrontal cortex from subjects with schizophrenia.
|
21091263 |
2011 |
Schizophrenia
|
0.540 |
Biomarker
|
disease |
BEFREE |
The most significant SNPs resided in ROR1 and PLCB1, genes known to be involved in bipolar disorder and schizophrenia, respectively.
|
21494683 |
2011 |
Schizophrenia
|
0.540 |
Biomarker
|
disease |
MGD |
Phospholipase C-beta1 knockout mice exhibit endophenotypes modeling schizophrenia which are rescued by environmental enrichment and clozapine administration.
|
17667964 |
2008 |
Schizophrenia
|
0.540 |
Biomarker
|
disease |
CTD_human |
Phospholipase C-beta1 knockout mice exhibit endophenotypes modeling schizophrenia which are rescued by environmental enrichment and clozapine administration.
|
17667964 |
2008 |
Major Depressive Disorder
|
0.410 |
GeneticVariation
|
disease |
GWASCAT |
A genome-wide association study of suicidal behavior.
|
26079190 |
2015 |
West Syndrome
|
0.410 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genes of early-onset epileptic encephalopathies: from genotype to phenotype.
|
22196487 |
2012 |
Major Depressive Disorder
|
0.410 |
Biomarker
|
disease |
BEFREE |
Literature data suggested that phosphoinositides (PI) signal transduction pathway and related molecules such as the Phosphoinositide-specific Phospholipase C (PI-PLC) enzymes, might be involved in the pathophysiology of mood disorders, including major depression.
|
21880371 |
2012 |
Major Depressive Disorder
|
0.410 |
Biomarker
|
disease |
PSYGENET |
By using interphase fluorescent in situ hybridization methodology, we analyzed PLCB1 gene, which codifies for the PI-PLC β1 enzyme, in paraffin embedded samples of orbito-frontal cortex of 15 patients affected with major depression and in 15 normal controls.
|
21880371 |
2012 |
West Syndrome
|
0.410 |
GermlineCausalMutation
|
disease |
ORPHANET |
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.
|
20833646 |
2010 |
West Syndrome
|
0.410 |
GeneticVariation
|
disease |
BEFREE |
In addition, a cohort of 12 consanguineous families of children with infantile spasms were analysed for linkage to the phospholipase C-β 1 gene locus.
|
20833646 |
2010 |
West Syndrome
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
MYELODYSPLASTIC SYNDROME
|
0.380 |
Biomarker
|
group |
BEFREE |
Altogether, our results could not only better explain the role of PI-PLCβ1/PKC-α signaling in erythropoiesis but also lead to a better comprehension of the lenalidomide effect on del(5q) MDS and pave the way to innovative, targeted therapies.-Poli, A., Ratti, S., Finelli, C., Mongiorgi, S., Clissa, C., Lonetti, A., Cappellini, A., Catozzi, A., Barraco, M., Suh, P.-G., Manzoli, L., McCubrey, J.A., Cocco, L., Follo, M. Y.
|
28970249 |
2018 |
MYELODYSPLASTIC SYNDROME
|
0.380 |
Biomarker
|
group |
BEFREE |
In Myelodysplastic Syndromes (MDS) PI-PLCβ1 has a genetic and epigenetic relevance and it is related to MDS patients' risk of Acute Myeloid Leukemia (AML) evolution.
|
28106288 |
2017 |
MYELODYSPLASTIC SYNDROME
|
0.380 |
Biomarker
|
group |
BEFREE |
Phosphoinositide-phospholipase C (PI-PLC) beta1 can be considered a specific target for demethylating therapy in high-risk myelodysplastic syndrome (MDS) patients, as azacitidine treatment has been associated with a PI-PLCbeta1-specific promoter demethylation, and induction of PI-PLCbeta1 gene and protein expression.
|
22033492 |
2012 |
MYELODYSPLASTIC SYNDROME
|
0.380 |
Biomarker
|
group |
BEFREE |
Evidence on ex vivo human cancer cells from patients with myelodysplastic syndromes (MDS) confirmed these observations, suggesting the involvement of PI-PLC-β1 both in the pathogenesis of the disease and in the progression of MDS to acute myeloid leukemia.
|
22111715 |
2011 |
MYELODYSPLASTIC SYNDROME
|
0.380 |
AlteredExpression
|
group |
BEFREE |
Taken together, our findings might open up new lines of investigations aiming at evaluating the role of the activation of PI-PLCβ1 signaling in the epigenetic therapy, which may also lead to the identification of innovative targets for the epigenetic therapy of high-risk MDS.
|
21109771 |
2011 |
MYELODYSPLASTIC SYNDROME
|
0.380 |
PosttranslationalModification
|
group |
BEFREE |
Reduction of phosphoinositide-phospholipase C beta1 methylation predicts the responsiveness to azacitidine in high-risk MDS.
|
19805378 |
2009 |
MYELODYSPLASTIC SYNDROME
|
0.380 |
GeneticVariation
|
group |
LHGDN |
Phosphoinositide-phospholipase C beta1 mono-allelic deletion is associated with myelodysplastic syndromes evolution into acute myeloid leukemia.
|
19114693 |
2009 |
MYELODYSPLASTIC SYNDROME
|
0.380 |
GeneticVariation
|
group |
BEFREE |
Phosphoinositide-phospholipase C beta1 mono-allelic deletion is associated with myelodysplastic syndromes evolution into acute myeloid leukemia.
|
19114693 |
2009 |