| scholarly article | Q13442814 |
| P50 | author | Clara Franzini-Armstrong | Q5125985 |
| Christine E. Seidman | Q30123970 | ||
| Jonathan G Seidman | Q88295024 | ||
| Frederic F S Depreux | Q114417693 | ||
| Elena Zvaritch | Q114417694 | ||
| Natasha Kraeva | Q114417695 | ||
| Alexander Kraev | Q114417696 | ||
| P2093 | author name string | Simona Boncompagni | |
| Anthony O. Gramolini | |||
| David H. Maclennan | |||
| Robert T. Dirksen | |||
| Ryan E. Loy | |||
| Sanjeewa A. Goonasekera | |||
| Simona Boncompagi | |||
| P2860 | cites work | MyoD or Myf-5 is required for the formation of skeletal muscle | Q28510042 |
| DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. II. DEVELOPMENTAL ANALYSIS | Q28584771 | ||
| DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. I. GENETIC ANALYSIS AND GROSS MORPHOLOGY | Q28585851 | ||
| Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene | Q28587644 | ||
| Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene | Q28592173 | ||
| Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis | Q29871452 | ||
| Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions | Q34433539 | ||
| Abnormal junctions between surface membrane and sarcoplasmic reticulum in skeletal muscle with a mutation targeted to the ryanodine receptor | Q34439884 | ||
| Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels? | Q34772571 | ||
| Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor | Q35060776 | ||
| Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle | Q36221092 | ||
| Coordinated incorporation of skeletal muscle dihydropyridine receptors and ryanodine receptors in peripheral couplings of BC3H1 cells | Q36273983 | ||
| The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease | Q36412454 | ||
| Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor | Q36436381 | ||
| Functional impact of the ryanodine receptor on the skeletal muscle L-type Ca(2+) channel | Q36444962 | ||
| A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease | Q36460971 | ||
| Mutations in RYR1 in malignant hyperthermia and central core disease | Q36569488 | ||
| Biochemistry and biophysics of excitation-contraction coupling | Q38648051 | ||
| Characterization of recessive RYR1 mutations in core myopathies | Q40238382 | ||
| Control of calcium release in functioning skeletal muscle fibers | Q40660689 | ||
| Reduction in intracellular calcium levels inhibits myoblast differentiation | Q40728039 | ||
| Expression of the ryanodine receptor isoforms in immune cells | Q40773094 | ||
| Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels. | Q40984666 | ||
| Calcium signaling in the developing Xenopus myotome | Q41689357 | ||
| The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. | Q42054647 | ||
| Differential expression of ryanodine receptors in the rat cochlea. | Q42486489 | ||
| Expression and cellular localization of a modified type 1 ryanodine receptor and L-type channel proteins in non-muscle cells | Q42686387 | ||
| Protein-protein interactions in intracellular Ca2+-release channel function. | Q42992623 | ||
| Ca2+ release through ryanodine receptors regulates skeletal muscle L-type Ca2+ channel expression. | Q43559613 | ||
| Developmental expression of the calcium release channels during early neurogenesis of the mouse cerebral cortex | Q43892562 | ||
| The block of ryanodine receptors selectively inhibits fetal myoblast differentiation | Q44364087 | ||
| A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia | Q44420417 | ||
| Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease | Q45010236 | ||
| Multiple ryanodine receptor subtypes and heterogeneous ryanodine receptor-gated Ca2+ stores in pulmonary arterial smooth muscle cells. | Q46465684 | ||
| Ryanodine receptors in muscarinic receptor-mediated bronchoconstriction | Q46491319 | ||
| Type 1 ryanodine receptor in cardiac mitochondria: transducer of excitation-metabolism coupling | Q46771629 | ||
| Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. | Q46801191 | ||
| Dihydropyridine receptors and type 1 ryanodine receptors constitute the molecular machinery for voltage-induced Ca2+ release in nerve terminals. | Q48467694 | ||
| Intracellular calcium release channel expression during embryogenesis. | Q52179443 | ||
| Alternate disposition of tetrads in peripheral couplings of skeletal muscle. | Q52208200 | ||
| Muscle fibers from dysgenic mouse in vivo lack a surface component of peripheral couplings | Q68247683 | ||
| Junctional feet and particles in the triads of a fast-twitch muscle fibre | Q71767441 | ||
| Development of the excitation-contraction coupling apparatus in skeletal muscle: association of sarcoplasmic reticulum and transverse tubules with myofibrils | Q72566034 | ||
| Two regions of the ryanodine receptor involved in coupling with L-type Ca2+ channels | Q74567340 | ||
| The II-III loop of the skeletal muscle dihydropyridine receptor is responsible for the Bi-directional coupling with the ryanodine receptor | Q78037940 | ||
| P433 | issue | 47 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Ryanodine receptor 1, skeletal muscle | Q21980348 |
| homozygosity | Q114049690 | ||
| P304 | page(s) | 18537–18542 | |
| P577 | publication date | 2007-11-20 | |
| P1433 | published in | Proceedings of the National Academy of Sciences of the United States of America | Q1146531 |
| P1476 | title | An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line | |
| P478 | volume | 104 |
| Q37733865 | A chemical chaperone improves muscle function in mice with a RyR1 mutation. |
| Q34478102 | Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy |
| Q44411113 | Altered Ca2+ concentration, permeability and buffering in the myofibre Ca2+ store of a mouse model of malignant hyperthermia. |
| Q37458493 | Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods |
| Q34545457 | Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants |
| Q39493236 | Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1. |
| Q58095630 | Calcium Signaling in Vertebrate Development and Its Role in Disease |
| Q38761095 | Calcium signaling in skeletal muscle development, maintenance and regeneration |
| Q30008804 | Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. |
| Q92238728 | Cored in the act: the use of models to understand core myopathies |
| Q35983745 | De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects. |
| Q50510755 | Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres. |
| Q30525828 | Eif4a3 is required for accurate splicing of the Xenopus laevis ryanodine receptor pre-mRNA |
| Q36527573 | Gene profiling of embryonic skeletal muscle lacking type I ryanodine receptor Ca(2+) release channel |
| Q90730108 | Identification of drug modifiers for RYR1 related myopathy using a multi-species discovery pipeline |
| Q55397765 | Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients. |
| Q92430344 | Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function |
| Q88653253 | Intracellular Calcium Mobilization Is Required for Sonic Hedgehog Signaling |
| Q47253099 | Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept |
| Q34883560 | Malignant hyperthermia: a pharmacogenetic disorder |
| Q26799652 | Malignant hyperthermia: a review |
| Q26795762 | Molecular basis of cleft palates in mice |
| Q34439584 | Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum |
| Q26825158 | Perspectives on: SGP symposium on mitochondrial physiology and medicine: molecular identities of mitochondrial Ca2+ influx mechanism: updated passwords for accessing mitochondrial Ca2+-linked health and disease |
| Q41955529 | Potassium dependent rescue of a myopathy with core-like structures in mouse |
| Q94544834 | Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019 |
| Q33912937 | Ryanodine receptor channelopathies |
| Q37705608 | Ryanodine receptor studies using genetically engineered mice |
| Q54351180 | Ryanodine receptors are expressed in epidermal keratinocytes and associated with keratinocyte differentiation and epidermal permeability barrier homeostasis. |
| Q83483025 | Ryanodinopathies: RyR-Linked Muscle Diseases |
| Q28117333 | Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle |
| Q28588104 | Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility |
| Q57656681 | Structural Details of the Ryanodine Receptor Calcium Release Channel and Its Gating Mechanism |
| Q34306197 | The I4895T mutation in the type 1 ryanodine receptor induces fiber‐type specific alterations in skeletal muscle that mimic premature aging |
| Q38271367 | The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models? |
| Q42721066 | The ryanodine receptor pore: is there a consensus view? |
| Q42091961 | The signaling protein CD38 is essential for early embryonic development |
| Q35673620 | Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype |
| Q90735529 | Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot |
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