RYR1


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AcronymDefinition
RYR1Ryanodine Receptor (skeletal muscles)
RYR1Skeletal Muscle Ryanodine Receptor (gene)
References in periodicals archive ?
Several genes were highlighted due to their known association with growth and production, including TGFB3, ACSL1, RYR1, ACOX2, PPARG2, NTN1, RIN2, MAPRE1, ADAMTS2, MYOM1, ZDHHC13, and SH3PXD2B.
Interestingly, we also discovered that CASQ1-null mice trigger lethal hyperthermic episodes when exposed to both halothane and heat [15, 16], a phenotype that closely resembles that observed in porcine stress syndrome (PSS) [17, 18], and in knockin mice carrying point mutations in RYR1 gene linked to human malignant hyperthermia (MH) susceptibility, the [RYRI.sup.Y522S/WT] and [RYRI.sup.RI63C/WT] mice [19, 20].
[2] Human genes: B3GALT6, beta-1,3-galactosyltransferase 6; CSF2RA, colony stimulating factor 2 receptor alpha subunit; DNMT1, DNA (cytosine-5-)-methyltransferase 1; HSPG2, heparan sulfate proteoglycan 2; ITCH, itchy E3 ubiquitin protein ligase; NEB, nebulin; PTPRC, protein tyrosine phosphatase, receptor type C; RYR1, ryanodine receptor 1; SEPNI, selenoprotein N, 1; 76X7, T-box 1; FADD, Fas associated via death domain; FGFR3, fibroblast growth factor receptor 3; ISPD, isoprenoid synthase domain containing; RFXAP, regulatory factor X associated protein; DNM2, dynamin 2; KBTBD13, kelch repeat and BTB domain containing 13; PTH1R, parathyroid hormone 1 receptor.
PCB-95 sensitizes both RyR1 and RyR2 (Wong and Pessah 1996).
Nine different causative RYR1 mutations had been identified in families of patients who had been administered the 329 triggering anaesthetics.
[67] reported that RyR1 channels in a murine model of limb girdle muscular dystrophy (LGMD; a deficiency in [beta]-sarcoglycan--a protein involved in the DPG) muscle are oxidised, cysteine nitrosylated, phosphorylated, and depleted of calastabin1 which results in leaky channels along with a decreased fast twitch muscle force and impaired capacity for exercise.
To verify that ryanodine pretreatment in fact blocked all RyR channel activity in hippocampal neurons, a challenge of 4CmC [previously shown to activate RyR1 and RyR2, but not RyR3, channel activity (Fessenden et al.
The CICR test can reveal abnormalities associated with calcium release from the SR, a process primarily controlled by the RYR1 channel in skeletal muscle (16).
MH is autosomally dominant inherited and over 200 mutations have been identified in the ryanodine receptor 1 (RYR1) gene, which is expressed in skeletal muscle (4,6).
Three different isoforms of ryanodine receptors are known: ryanodine receptor type 1 (RyR1; [5] OMIM 180901) and type 2 (RyR2; OMIM 180902) are produced in skeletal and cardiac muscle, respectively, whereas ryanodine receptor type 3 (RyR3; OMIM 180903) is produced in a wide range of tissue.
showed that NOX4 activity is positively modulated by muscle oxygen tension, increasing [H.sub.2][O.sub.2] availability, which oxidizes multiple cysteine residues of dihydropyridine receptor (RyR1) [10].
The existence of PSE meat also has a genetic origin related to the halothane gene (n) which is also known as RYR1 gene.