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Our observations of this case further delineate the phenotype of ACS (zeige PLA2G15 ELISA Kits) associated with autosomal recessive PLCB4 loss-of-function mutations, underscoring gastrointestinal dysfunction and severe sleep-related breathing abnormalities as additional features when compared to patients with heterozygous mutations with a presumed dominant negative effect.
PLCB4 copy gain and PLCB4 overexpression is associated with gastrointestinal stromal tumors.
recurrent mutation in PLCB4 is associated with uveal melanoma.
Polymorphism of the PLCB4/B1 genes might be involved in the coronary artery aneurysm pathogenesis of Kawasaki disease.
This study demonistrated by Gene expression profile that PLCB4 upregulaion in fibroblasts of Huntington's disease patients.
Auriculocondylar syndrome is caused by PLCB4 mutations inherited not only in an autosomal dominant manner (catalytic domain missense mutations) but also inherited as autosomal recessive (complete loss of function).
The phenotypic variability of auriculocondylar syndrome suggests that mutations in this pathway, especially those affecting core signaling molecules such as PLCB4 and GNAI3 (zeige GNAI3 ELISA Kits), should be considered as potential candidates for other ear and jaw malformations.
The significant contribution of PSMD3 (zeige PSMD3 ELISA Kits)-CSF3 (zeige CSF3 ELISA Kits) and PLCB4 loci to the regulation of neutrophil count, is demonstrated.
Presence of PLCbeta(4) in the heart and in HL-1 (zeige ASGR1 ELISA Kits) cardiomyocytes showing a different species-dependent pattern of expression of the PLCbeta((1-4)) transcripts.
Tnis study demonistrated that plc (zeige HSPG2 ELISA Kits) beta4 distribuate in mice cerebellum
impaired LGNd relay, possibly mediated via group-1 mGluR (zeige GRM8 ELISA Kits), may underlie irregular sleep sequences and ultradian body temperature rhythms in PLC (zeige HSPG2 ELISA Kits)-beta4-/- mice
These findings suggest that (1) PLC-beta 4 in the medial septum is involved in controlling cholinergic theta oscillation and (2) cholinergic theta rhythm plays a critical role in suppressing anxiety.
PLCB4 has a role in synapse elimination and plasticity in developing and mature cerebellum.
These findings indicate that the thalamic mGluR1 (zeige GRM1 ELISA Kits)-PLCbeta4 cascade is indispensable for the formalin-induced inflammatory pain by regulating the response of VPL neurons
Expression of Plcb4 was studied in a cell line during myoblast differentiation.
excitatory synaptic inputs to Purinje cells activate the Ca2 (zeige CA2 ELISA Kits)+-assisted mGluR1 (zeige GRM1 ELISA Kits)-PLCbeta4 cascade, and produce 2-arachidonoylglycerol, which retrogradely modulates synaptic transmission
We report here a normal distribution of midbrain dopaminergic cell bodies and axonal projection to the striatum in phospholipase C beta 4-/- mice.
plcb4 expressed strongly in the mouse cerebellum in subsets of Purkinje cells.PLCbeta4 expression is restricted to, and coextensive with, the zebrin II-immunonegative Purkinje cell subset.
The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene.
phospholipase C beta 4
, 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
, dJ1119D9.2 (Phopholipase C, beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4))
, monophosphatidylinositol phosphodiesterase
, phosphoinositidase C
, phosphoinositide phospholipase C-beta-4
, triphosphoinositide phosphodiesterase
, 1-phosphatidylinositol-4,5-bisphosphate phosphodiesterase beta-4
, phosphoinositide phospholipase C
, phospholipase C-beta-4
, phospholipase C beta