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抗Human RYR2 抗体:
抗Rat (Rattus) RYR2 抗体:
抗Mouse (Murine) RYR2 抗体:
Study determined the three-dimensional structure of rabbit RyR2 in complex with the regulatory protein FKBP12.6 (显示 FKBP1B 抗体) in the closed state at 11.8 A resolution using cryo-electron microscopy and built an atomic model of RyR2.
Two regions of the ryanodine receptor (显示 RYR3 抗体) calcium channel are involved in Ca(2 (显示 CA2 抗体)+)-dependent inactivation
[REVIEW] The efficacy of divalent calcium ion (Ca2 (显示 CA2 抗体)+) release in the myocardium depends on the amount of Ca2 (显示 CA2 抗体)+ loaded into the Ca2 (显示 CA2 抗体)+ store and the way in which this Ca2 (显示 CA2 抗体)* load influences the activity of the ryanodine receptor (显示 RYR3 抗体) Ca2+ release channel (RyR2).
There were substantial transmural gradients in Cav1.2 (显示 CACNA1C 抗体), KChIP2 (显示 KCNIP2 抗体), ERG (显示 KCNH2 抗体), KvLQT1 (显示 KCNQ1 抗体), Kir2.1 (显示 KCNJ2 抗体), NCX1 (显示 SLC8A1 抗体), SERCA2a (显示 ATP2A2 抗体) and RyR2 at the mRNA and, in some cases, protein level-in every case the mRNA or protein was more abundant in the epicardium than the endocardium.
phosphorylation and K201 acted similarly to change the conformation of RyR1/2 and regulate FKBP12/12.6 binding.
Genetic analysis of the index case identified only one rare novel variant p.Ile11Ser (c.32T>G) in the RyR2 gene. Subsequent familial analysis identified segregation of the genetic variant with the disease. To our knowledge, there has been no previous case report of catecholaminergic polymorphic ventricular tachycardia associated to this missense variant.
Our findings provided evidence that Indel polymorphism rs10692285 might contribute to sudden unexplained death (SUD) susceptibility through affecting the expression of RYR2, which suggest that abnormal ion channel activity is very likely to be the underlying mechanism of SUD.
Five of the 19 patients (26.3%) had either a pathogenic variant or a likely pathogenic variant in MYBPC3 (显示 MYBPC3 抗体) (n=1), MYH7 (显示 MYH7 抗体) (n=1), RYR2 (n=2), or TNNT2 (显示 TNNT2 抗体) (n=1). All five variants were missense variants that have been reported previously in patients with channelopathies or cardiomyopathies
RYR2 variants show possible pathogenic Fibrosis of the Cardiac Conduction system.
The most common form of CPVT is due to autosomal dominant variants in the cardiac ryanodine receptor gene (RYR2).
Common variants rs790899 and rs1891246 of RYR2 were significantly associated with HG and weight loss.
The left atrium / right atrium expression ratio was significantly increased in Atrial fibrillation for ryanodine receptor 2 - gene related to calcium uptake and release, and located on the sarcoplasmic reticulum membrane.
a direct interaction exists between RyR2 and CSQ2, is reported.
In a national cohort of RyR2 mutation-positive CPVT patients, SCD (显示 SCD 抗体), ASCD and syncope were presenting events in the majority of probands and also occurred in 36% of relatives identified through family screening.
We identified a variant in the RYR2 gene (NM_001035) which involved a change of a glycine to an arginine in position155 of the gene product (c.463G > A, p.Gly155Arg, p.G155R). This RYR2 gene mutation is a novel rare genetic variant as it was not present in any of the international databases consulted.
In this study, the large K(+) conductance of the RyR2 channel permits direct observation of blocking events as distinct subconductance states and for the first time demonstrates the differential effects of blocker molecules on channel gating.
In FHC (显示 FTH1 抗体)-linked TnT (显示 TNNI1 抗体)-mutated hearts, RyR2 is susceptible to CaMKII (显示 CAMK2G 抗体)-mediated phosphorylation, presumably because of a mutation-linked increase in diastolic [Ca(2 (显示 CA2 抗体)+)]i, causing aberrant Ca(2 (显示 CA2 抗体)+) release leading to lethal arrhythmia.
Genetically altered mice with congenitally leaky RyR2 exhibited premature and severe defects in synaptic plasticity, behavior and cognitive function.
A 3-fold increase in the junctophilin-2 (显示 JPH2 抗体) to RyR2 ratio is compatible with direct inhibition of RyR2 opening by junctophilin-2 (显示 JPH2 抗体) to intrinsically stabilize the Ca2 (显示 CA2 抗体)+ signaling properties of the junction and thus the contractile function of the cell.
the coexistence of leaky RYR2 mutations with other genes that enhance epilepsy or cardiac arrhythmia establish RYR2 as a strong additional genetic candidate for sudden death risk.
the RyR2 G357S mutation increases the store overload induced Ca2 (显示 CA2 抗体)+ release (SOICR) activity by reducing the thresholds for SOICR activation and termination and increasing the fractional Ca2 (显示 CA2 抗体)+ release.
Arrhythmic effects of Epac (显示 RAPGEF3 抗体)-mediated ryanodine receptor (显示 RYR3 抗体) activation in Langendorff-perfused murine hearts
K4750Q mutation causes three RyR2 defects: hypersensitization to activation by cytosolic Ca2 (显示 CA2 抗体)+, loss of cytosolic Ca2 (显示 CA2 抗体)+/Mg2 (显示 MCOLN1 抗体)+-mediated inactivation, and hypersensitization to luminal Ca2 (显示 CA2 抗体)+ activation.
InsP3 dependent sarcoplasmic reticulum-Ca2 (显示 CA2 抗体)+ flux constitute the main mechanism of functional crosstalk between InsP3R2 (显示 ITPR2 抗体) and RyR2 resulting in more Ca2 (显示 CA2 抗体)+ sensitized RyRs to trigger subsequent Ca2 (显示 CA2 抗体)+-induced Ca2 (显示 CA2 抗体)+ release activation.
The heart contraction is controlled by the Ca2 (显示 CA2 抗体)+-induced Ca2 (显示 CA2 抗体)+ release between L-type Ca2 (显示 CA2 抗体)+ channels and ryanodine receptors. RyRs became more sensitive to Ca2 (显示 CA2 抗体)+ triggers without FKBP12.6 (显示 FKBP1B 抗体), leading to ventricular arrthymias.
This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia.
cardiac muscle ryanodine receptor
, ryanodine receptor 2 (cardiac)
, ryanodine receptor 2-like
, Ca2+ release channel
, cardiac muscle ryanodine receptor-calcium release channel
, cardiac muscle-type ryanodine receptor
, ryanodine receptor 2
, type 2 ryanodine receptor
, cardiac ryanodine receptor 2
, cardiac-type ryanodine receptor
, islet-type ryanodine receptor
, kidney-type ryanodine receptor
, ryanodine receptor type II
, calcium release channel
, ryanodine receptor type 2