Keywords: genetics; malignant hyperthermia; RYR1; CACNA1S; STAC3;
مقالات ISI (ترجمه نشده)
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Keywords: [Ca2Â +]i; free cytosolic [Ca2Â +]; CSQ1; calsequestrin 1; COX1; cytochrome c oxidase subunit 1; CS; citrate synthase; Ctrl; control; DHPR; dihydropyridine receptor; EDL; extensor digitorum longus; Nit; nitrate; P/O; oxidative phosphorylation efficiency;
Keywords: Malignant Hyperthermia (MH); RYR1; Duchenne Muscular Dystrophy (DMD);
Keywords: Congenital myopathy; Focal loss of cross striations; RYR1; Skeletal muscle ryanodine receptor; Central Core Disease (CCD); Multi-minicore Disease (MmD);
Keywords: Congenital myopathies; RYR1; Core myopathy; Muscle ultrasound; NEB; MTM1; SEPN1; ACTA1; TPM3;
Keywords: Congenital lumbar hernia; Central core disease; Malignant hyperthermia; RYR1; Arthrogryposis
Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding
Keywords: Ryanodine receptor; RYR1; Myopathy; Arthrogryposis; CNS bleeding; Malignant hyperthermia susceptibility trait;
Effect of sex and RYR1 gene mutation on the muscle proteomic profile and main physiological biomarkers in pigs at slaughter
Keywords: Sex; RYR1; Pig; Biomarker; Proteomics; Stress;
The mammalian skeletal muscle DHPR has larger Ca2+ conductance and is phylogenetically ancient to the early ray-finned fish sterlet (Acipenser ruthenus)
Keywords: EC; excitation-contraction; DHPR; dihydropyridine receptor; RyR1; ryanodine receptor type-1; SR; sarcoplasmic reticulum; CICR; Ca2+-induced Ca2+ release; GLT; immortalized DHPRα1S-null murine myotubes; Po; open probability; Ts3R; teleost-specific 3rd rou
Assessing the pathogenicity of RYR1 variants in malignant hyperthermia
Keywords: malignant hyperthermia, genetics; malignant hyperthermia, diagnosis; malignant hyperthermia, physiopathology; HEK293 cells; calcium signaling; RYR1;
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives
Keywords: Cav1.1; alfa 1 subunit of the dihydropyridine receptor; CCD; central core disease; CNM; centronuclear myopathy; DHPR; dihydropyridine receptor; ECC; excitation contraction coupling; ECCE; excitation coupled calcium entry; ER; endoplasmic reticulum; HDAC;
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Keywords: RYR1; Centronuclear myopathy; Congenital myopathies;
In situ visualizing T-Tubule/SR junction reveals the ultra-structures of calcium storage and release machinery
Keywords: Integral-integral-membrane proteins; RyR1; Macromolecular architecture; Electron tomography; DHPR;
CaMKII-dependent phosphorylation of RyR2 promotes targetable pathological RyR2 conformational shift
Keywords: AIP; autocamtide-2 related inhibitory peptide; Bmax; binding maximum; CaM; calmodulin; CaMKII; calcium/calmodulin-dependent protein kinase II; CaSpF; calcium spark frequency; CPVT; catecholaminergic polymorphic ventricular tachycardia; DAN; dantrolene; F;
How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'
Keywords: Athletic performance; Common human polymorphism; Molecular mechanism; Protein interactions; α-Actinin-3 deficiency; Muscle function; 2D; two-dimensional; ALP; actinin-associated LIM protein; ATP; adenosine triphosphate; BHAD; 3-hydroxyacyl-CoA dehydrogen
A Diagnostic Dilemma in a Family With Cystinuria Type B Resolved by Muscle Magnetic Resonance
Keywords: cystinuria type B; congenital myopathy; muscle magnetic resonance; RYR1
European Malignant Hyperthermia Group guidelines for investigation of malignant hyperthermia susceptibility
Keywords: CACNA1S; excitation-contraction coupling; malignant hyperthermia; malignant hyperthermia susceptibility, diagnosis; RYR1; skeletal muscle;
Ryanodine Myopathies Without Central Cores—Clinical, Histopathologic, and Genetic Description of Three Cases
Keywords: ryanodine receptor; RYR1; myopathy; muscle biopsy
ReviewCongenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature
Keywords: Congenital myasthenic syndromes; Congenital myopathies; Neuromuscular junction; Neuromuscular transmission; Centronuclear myopathies; Fibre type disproportion; Plectinopathy; Tropomyosin; Acetylcholinesterase inhibitors; Acetylcholine receptor; RYR1; TPM2
Diagnostic approach to the congenital muscular dystrophies
Keywords: Congenital muscular dystrophy; Collagen VI; Laminin alpha2; Alpha-dystroglycan; SEPN1; Lamin A/C; RYR1; Diagnostic guideline;
Redox-sensitive stimulation of type-1 ryanodine receptors by the scorpion toxin maurocalcine
Keywords: [Ca2+]; free calcium concentration; [Mg2+]; free magnesium concentration; DHPR; dihydropyridine receptor; DTT; dithiothreitol; EGTA; ethyleneglycol-bis(β-aminoethyl ether) N,N,Nâ²,Nâ²-tetraacetic acid; HEDTA; N-(2-hydroxyethyl)-ethylenediamine-triaceti
Off-target thiol alkylation by the NADPH oxidase inhibitor 3-benzyl-7-(2-benzoxazolyl)thio-1,2,3-triazolo[4,5-d]pyrimidine (VAS2870)
Keywords: Ryanodine receptor; RyR1; NADPH oxidase; Nox4; VAS2870; Thiol modification; Free radicals;
182nd ENMC International Workshop: RYR1-related myopathies, 15-17th April 2011, Naarden, The Netherlands
Keywords: CCD; Central Core Disease; CNM; Centronuclear Myopathy; E-C; excitation-contraction; MH; malignant hyperthermia; MHS; malignant hyperthermia susceptibility; MmD; Multi-minicore Disease; RYR1; skeletal muscle ryanodine receptor gene; RyR1; skeletal mus
Malignant hyperthermia: pharmacology of triggering
Keywords: calcium, excitation-coupled calcium entry, store-operated calcium entry; dihydropyridine receptor; inhalation anaesthetics, desflurane, halothane, isoflurane, sevoflurane; malignant hyperthermia; methylene blue; neuromuscular blocking drugs, succinylcholi
Adult course in dynamin 2 dominant centronuclear myopathy with neonatal onset
Keywords: DNM2; Dynamin 2; Pleckstrin homology; GTPase; Mutation; Congenital myopathy; Centronuclear myopathy; Myotubular myopathy; Charcot-Marie-Tooth neuropathy; Myotubularin; Amphiphysin; RYR1; Neonatal
Centronuclear myopathies: A widening concept
Keywords: Congenital myopathies; Radiating sarcoplasmic strands; Necklace-fibres; MTM1; DNM2; BIN1; RyR1
Skeletal muscle excitation-contraction coupling is independent of a conserved heptad repeat motif in the C-terminus of the DHPRβ1a subunit
Keywords: EC; excitation-contraction; DHPR; 1,4-dihydropyridine receptor; RyR1; ryanodine receptor type-1; SR; sarcoplasmic reticulum; zf-; β1azebrafish β1a; rb-; β1arabbit β1a; GFP; green fluorescent protein; nt; nucleotide numbers; WT; wild-type; hpf; hours
Polysaccharide storage myopathy phenotype in quarter horse-related breeds is modified by the presence of an RYR1 mutation
Keywords: Glycogenosis; Malignant hyperthermia; Glycogen synthase; GYS1; RYR1
Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms
Keywords: Ryanodine receptor; RyR1; RyR2; Hereditary diseases; MH; CCD; CPVT; ARVD2; Interdomain interaction; Luminal calcium;
The possibility of positive selection for both F18+Escherichia coli and stress resistant pigs opens new perspectives for pig breeding
Keywords: F18+Escherichia coli (F107/86); Pig; RYR1; FUT1; Porcine stress syndrome
Type 1 and type 3 ryanodine receptors are selectively involved in muscarinic antinociception in mice: An antisense study
Keywords: muscarinic receptor; analgesia; type 1 ryanodine receptors; type 2 ryanodine receptors; type 3 ryanodine receptors; intracellular Ca2+; aODN; antisense oligonucleotide; DAG; diacylglycerol; dODN; degenerated oligonucleotide; InsP3; inositol-1,4,5-triphosp
The presence of a functional t-tubule network increases the sensitivity of RyR1 to agonists in skinned rat skeletal muscle fibres
Keywords: Sarcoplasmic reticulum; t-Tubules; RyR1; Ca2+ regulation; Skeletal;
SNaPshot based genotyping of the RYR1 mutation in Portuguese breeds of pigs
Keywords: Swine; RYR1; Halothane; PSS
Effects of pO2 on the activation of skeletal muscle ryanodine receptors by NO: A cautionary note
Keywords: RyR1; skeletal muscle ryanodine receptor; NO; nitric oxide gas; Cys-SNO; S-nitrosocysteine; GSNO; S-nitrosoglutathione; SR; sarcoplasmic reticulum; CK; creatine kinase; CP; creatine phosphate; CaM; calmodulin; Nitric oxide; Nitrosothiol; Oxygen tension; R
IVM media, oocyte diameter and donor genotype at RYR1 locus in relation to the incidence of porcine diploid oocytes after maturation in vitro
Keywords: Pig; Diploid oocyte; IVM; RYR1; Diameter;