Ryanodine receptor 1 mutations. Medical search. Frequent questions

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Anatomy29

Sarcoplasmic Reticulum Muscle, Skeletal Myocardium Myocytes, Cardiac Microsomes Muscle Fibers, Skeletal Muscles Cells, Cultured Cell Line Heart Ventricles Heart Cytosol Sarcolemma Endoplasmic Reticulum Intracellular Membranes Muscle Cells Cell Membrane Intracellular Fluid Myocytes, Smooth Muscle Muscle, Smooth Cytoplasm HEK293 Cells CHO Cells Neurons Intracellular Space Sinoatrial Node Subcellular Fractions Muscle, Smooth, Vascular Papillary Muscles

Organisms17

Rabbits Dogs Rats, Sprague-Dawley Mice, Transgenic Swine Mice, Mutant Strains Mice, Knockout Scorpions Rats, Wistar Mice, Inbred C57BL Escherichia coli Cricetinae Guinea Pigs Sheep Animals, Newborn Rana catesbeiana Saccharomyces cerevisiae

Diseases11

Malignant Hyperthermia Myopathy, Central Core Tachycardia, Ventricular Arrhythmias, Cardiac Muscular Diseases Heart Failure Myopathies, Nemaline Disease Models, Animal Genetic Predisposition to Disease Syndrome Death, Sudden, Cardiac

Chemicals and Drugs103

Ryanodine Receptor Calcium Release Channel Ryanodine Calcium Calcium Channels Dantrolene Caffeine Muscle Proteins Tacrolimus Binding Proteins Calsequestrin Tacrolimus Binding Protein 1A Cyclic ADP-Ribose Inositol 1,4,5-Trisphosphate Receptors Calcium Channels, L-Type Ruthenium Red Cresols Sarcoplasmic Reticulum Calcium-Transporting ATPases Macrocyclic Compounds Muscle Relaxants, Central Receptors, Cholinergic Calcium Channel Agonists Tetracaine Calcium-Transporting ATPases Calcium Channel Blockers Inositol 1,4,5-Trisphosphate Lipid Bilayers Calcium-Binding Proteins Sodium-Calcium Exchanger Scorpion Venoms Calmodulin Thapsigargin Protein Isoforms Oxazoles Furylfuramide Thiazepines Calcium-Calmodulin-Dependent Protein Kinase Type 2 Boron Compounds Adenosine Diphosphate Ribose Immunophilins Cyclic AMP-Dependent Protein Kinases Phosphodiesterase Inhibitors Receptors, Cytoplasmic and Nuclear Magnesium Carrier Proteins Tacrolimus DNA Primers Alkaloids Egtazic Acid Adenosine Triphosphate DNA, Complementary Xanthenes Central Nervous System Stimulants Recombinant Proteins Calmodulin-Binding Proteins ADP-ribosyl Cyclase RNA, Messenger Halothane Isoproterenol Recombinant Fusion Proteins Codon, Nonsense Membrane Proteins Aniline Compounds Thimerosal Fura-2 Tritium Fluorescent Dyes DNA Chelating Agents Adrenergic beta-Agonists Suramin DNA-Binding Proteins Nifedipine Peptide Fragments Procaine Potassium Chloride Codon Organogold Compounds NADP Enzyme Inhibitors Estrenes Cholinergic Agonists Cholic Acids Mutant Proteins Inosine Triphosphate Transcription Factors Caveolin 3 Viologens Protein Subunits Indoles Pyrrolidinones Ion Channels Perchlorates Peptides Anesthetics, Inhalation Neomycin Cysteine Potassium Isradipine Benzylamines Potassium Channels, Calcium-Activated Polyenes Dihydropyridines Bacterial Proteins Mixed Function Oxygenases

Analytical, Diagnostic and Therapeutic Techniques and Equipment31

Pedigree Amino Acid Substitution Patch-Clamp Techniques Mutagenesis, Site-Directed Microscopy, Confocal DNA Mutational Analysis Polymerase Chain Reaction Models, Molecular Cryoelectron Microscopy Transfection Models, Biological Cloning, Molecular Gene Knock-In Techniques Immunoblotting Blotting, Western Sequence Analysis, DNA Genetic Testing Sequence Alignment Chromosome Mapping Disease Models, Animal Reverse Transcriptase Polymerase Chain Reaction Models, Cardiovascular Electric Stimulation Immunohistochemistry Microscopy, Fluorescence Precipitin Tests Electrophoresis, Polyacrylamide Gel Genetic Complementation Test Binding, Competitive Restriction Mapping Microscopy, Electron

Phenomena and Processes62

Point Mutation Mutation, Missense Calcium Signaling Mutation Frameshift Mutation Ion Channel Gating Excitation Contraction Coupling Germ-Line Mutation Amino Acid Sequence Membrane Potentials Base Sequence Amino Acid Substitution Muscle Contraction Myocardial Contraction Binding Sites Protein Binding Kinetics Heterozygote Exons Protein Structure, Tertiary Mutation Rate Sequence Homology, Amino Acid Polymorphism, Single-Stranded Conformational Alleles Genotype Dose-Response Relationship, Drug Phosphorylation Time Factors Transfection Phenotype Protein Conformation Electric Conductivity Signal Transduction Homozygote Codon, Nonsense Mutagenesis Genes, Dominant Ion Transport Sequence Deletion Action Potentials Structure-Activity Relationship Genes, Recessive Gene Deletion Homeostasis Gene Expression Protein Structure, Secondary Suppression, Genetic Genetic Predisposition to Disease Codon Gene Expression Regulation Biophysical Phenomena Amino Acid Motifs Binding, Competitive Osmolar Concentration Founder Effect Genetic Linkage Polymorphism, Genetic Genes, p53 Transcription, Genetic Plasmids Consanguinity Temperature

Disciplines and Occupations3

Electrophysiology Biophysics Immunohistochemistry

Technology, Industry, Agriculture1

Information Science3

Molecular Sequence Data Amino Acid Sequence Base Sequence

Health Care3

Genetic Testing Family Health Temperature

Geographicals1

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Phenomena and Processes Disciplines and Occupations Technology, Industry, Agriculture Information Science Health Care

Ryanodine Receptor Calcium Release Channel Ryanodine Sarcoplasmic Reticulum Calcium Point Mutation Calcium Channels Mutation, Missense Calcium Signaling Malignant Hyperthermia Dantrolene Caffeine Mutation Muscle Proteins Tacrolimus Binding Proteins Calsequestrin Tacrolimus Binding Protein 1A Cyclic ADP-Ribose Inositol 1,4,5-Trisphosphate Receptors Calcium Channels, L-Type Muscle, Skeletal Rabbits Ruthenium Red Myopathy, Central Core Myocardium Cresols Sarcoplasmic Reticulum Calcium-Transporting ATPases Macrocyclic Compounds Frameshift Mutation Myocytes, Cardiac Ion Channel Gating Muscle Relaxants, Central Excitation Contraction Coupling Molecular Sequence Data Receptors, Cholinergic Calcium Channel Agonists Germ-Line Mutation Pedigree Microsomes Amino Acid Sequence Tetracaine Membrane Potentials Calcium-Transporting ATPases Calcium Channel Blockers Muscle Fibers, Skeletal Base Sequence Amino Acid Substitution Inositol 1,4,5-Trisphosphate Muscle Contraction Myocardial Contraction Lipid Bilayers Calcium-Binding Proteins Binding Sites Protein Binding Kinetics Sodium-Calcium Exchanger Scorpion Venoms Patch-Clamp Techniques Calmodulin Muscles Thapsigargin Cells, Cultured Heterozygote Exons Mutagenesis, Site-Directed Protein Isoforms Microscopy, Confocal DNA Mutational Analysis Polymerase Chain Reaction Protein Structure, Tertiary Mutation Rate Oxazoles Cell Line Dogs Furylfuramide Electrophysiology Thiazepines Calcium-Calmodulin-Dependent Protein Kinase Type 2 Heart Ventricles Boron Compounds Adenosine Diphosphate Ribose Tachycardia, Ventricular Immunophilins Models, Molecular Cyclic AMP-Dependent Protein Kinases Sequence Homology, Amino Acid Phosphodiesterase Inhibitors Polymorphism, Single-Stranded Conformational Alleles Heart Receptors, Cytoplasmic and Nuclear Magnesium Cryoelectron Microscopy Arrhythmias, Cardiac Carrier Proteins Genotype Tacrolimus Cytosol DNA Primers Alkaloids Dose-Response Relationship, Drug

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