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Search results 1 to 100 out of 605 for Ryr1

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Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: dog, domestic
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Protein Domain
Type: Family
Description: The function of skeletal muscle relies on the movement of Ca2+ out of and back into the storage compartment (SR). Ryanodine receptor 1 (RyR) functions as a Ca2+-release channels, releasing Ca2+ from the SR, resulting in muscle contraction [].Mutations in the RyR1 gene cause malignant hyperthermia 1 (MHS1), an autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia [, ].
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication  
First Author: Hernández-Ochoa EO
Year: 2015
Journal: Front Physiol
Title: Critical Role of Intracellular RyR1 Calcium Release Channels in Skeletal Muscle Function and Disease.
Volume: 6
Pages: 420
Protein
Organism: Mus musculus/domesticus
Length: 5035  
Fragment?: false
GXD Expression    
Probe: MGI:6306084
Assay Type: RT-PCR
Annotation Date: 2019-05-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757720
Stage: TS20
Assay Id: MGI:6306089
Age: embryonic day 12.5
Image: S1
Specimen Label: Ryr1 AG/AG
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6306084
Assay Type: RT-PCR
Annotation Date: 2019-05-29
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1757722
Stage: TS22
Assay Id: MGI:6306098
Age: embryonic day 14.5
Image: S1
Specimen Label: Ryr1 -/-
Detected: false
Specimen Num: 2
GXD Expression    
Probe: MGI:6306084
Assay Type: RT-PCR
Annotation Date: 2019-05-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757722
Stage: TS22
Assay Id: MGI:6306092
Age: embryonic day 14.5
Image: S1
Specimen Label: Ryr1 AG/AG
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6306084
Assay Type: RT-PCR
Annotation Date: 2019-05-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757726
Stage: TS26
Assay Id: MGI:6306095
Age: embryonic day 18.5
Image: S1
Specimen Label: Ryr1 AG/AG
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:6306084
Assay Type: RT-PCR
Annotation Date: 2019-05-29
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1757726
Stage: TS26
Assay Id: MGI:6306102
Age: embryonic day 18.5
Image: 6
Specimen Label: Ryr1 AG/AG
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:6306084
Assay Type: RT-PCR
Annotation Date: 2019-05-29
Strength: Absent
Sex: Not Specified
Emaps: EMAPS:1757726
Stage: TS26
Assay Id: MGI:6306102
Age: embryonic day 18.5
Image: 6
Specimen Label: Ryr1 -/-
Detected: false
Specimen Num: 2
Publication  
First Author: Lee CS
Year: 2017
Journal: Nat Commun
Title: A chemical chaperone improves muscle function in mice with a RyR1 mutation.
Volume: 8
Pages: 14659
Protein
Organism: Mus musculus/domesticus
Length: 64  
Fragment?: true
Publication
First Author: Gillard EF
Year: 1992
Journal: Genomics
Title: Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.
Volume: 13
Issue: 4
Pages: 1247-54
Publication
First Author: Gillard EF
Year: 1991
Journal: Genomics
Title: A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia.
Volume: 11
Issue: 3
Pages: 751-5
Publication
First Author: Chelu MG
Year: 2006
Journal: FASEB J
Title: Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.
Volume: 20
Issue: 2
Pages: 329-30
Publication
First Author: Pelletier L
Year: 2020
Journal: Acta Neuropathol Commun
Title: In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Volume: 8
Issue: 1
Pages: 192
Publication
First Author: Durham WJ
Year: 2008
Journal: Cell
Title: RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice.
Volume: 133
Issue: 1
Pages: 53-65
Publication  
First Author: Thekkedam CG
Year: 2023
Journal: Int J Mol Sci
Title: The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating.
Volume: 25
Issue: 1
Protein
Organism: Mus musculus/domesticus
Length: 5033  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 5061  
Fragment?: false
Publication
First Author: Avila G
Year: 2003
Journal: J Biol Chem
Title: FKBP12 binding to RyR1 modulates excitation-contraction coupling in mouse skeletal myotubes.
Volume: 278
Issue: 25
Pages: 22600-8
Publication
First Author: Yang T
Year: 2006
Journal: Anesthesiology
Title: Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse.
Volume: 105
Issue: 6
Pages: 1164-75
Publication  
First Author: Cully TR
Year: 2020
Journal: Redox Biol
Title: Nox4 - RyR1 - Nox2: Regulators of micro-domain signaling in skeletal muscle.
Volume: 36
Pages: 101557
Publication
First Author: Wang HJ
Year: 2020
Journal: Nat Commun
Title: Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Volume: 11
Issue: 1
Pages: 5099
Publication
First Author: Lopez RJ
Year: 2016
Journal: Sci Signal
Title: An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.
Volume: 9
Issue: 435
Pages: ra68
Publication
First Author: Yarotskyy V
Year: 2012
Journal: Biophys J
Title: Temperature and RyR1 regulate the activation rate of store-operated Ca²+ entry current in myotubes.
Volume: 103
Issue: 2
Pages: 202-11
Publication
First Author: Lanner JT
Year: 2012
Journal: Nat Med
Title: AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation.
Volume: 18
Issue: 2
Pages: 244-51
Publication
First Author: Bannister RA
Year: 2010
Journal: J Gen Physiol
Title: A malignant hyperthermia-inducing mutation in RYR1 (R163C): consequent alterations in the functional properties of DHPR channels.
Volume: 135
Issue: 6
Pages: 629-40
Publication
First Author: Elbaz M
Year: 2019
Journal: Hum Mol Genet
Title: Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength.
Volume: 28
Issue: 18
Pages: 2987-2999
Publication
First Author: Estève E
Year: 2010
Journal: J Gen Physiol
Title: A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR.
Volume: 135
Issue: 6
Pages: 619-28
Publication
First Author: Elbaz M
Year: 2019
Journal: Hum Mol Genet
Title: Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres.
Volume: 28
Issue: 11
Pages: 1872-1884
Publication
First Author: Andronache Z
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: A retrograde signal from RyR1 alters DHP receptor inactivation and limits window Ca2+ release in muscle fibers of Y522S RyR1 knock-in mice.
Volume: 106
Issue: 11
Pages: 4531-6
Publication
First Author: Filipova D
Year: 2018
Journal: PLoS One
Title: Distinct transcriptomic changes in E14.5 mouse skeletal muscle lacking RYR1 or Cav1.1 converge at E18.5.
Volume: 13
Issue: 3
Pages: e0194428
Publication
First Author: Zhang IX
Year: 2023
Journal: J Biol Chem
Title: ER stress increases expression of intracellular calcium channel RyR1 to modify Ca(2+) homeostasis in pancreatic beta cells.
Volume: 299
Issue: 8
Pages: 105065
Publication  
First Author: Diercks BP
Year: 2018
Journal: Sci Signal
Title: ORAI1, STIM1/2, and RYR1 shape subsecond Ca2+ microdomains upon T cell activation.
Volume: 11
Issue: 561
Publication
First Author: Eckhardt J
Year: 2020
Journal: Hum Mol Genet
Title: Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations.
Volume: 29
Issue: 8
Pages: 1330-1339
Publication
First Author: Martins-Wess F
Year: 2002
Journal: Genomics
Title: Construction of a 1.2-Mb BAC/PAC contig of the porcine gene RYR1 region on SSC 6q1.2 and comparative analysis with HSA 19q13.13.
Volume: 80
Issue: 4
Pages: 416-22
Publication
First Author: Shtifman A
Year: 2004
Journal: Am J Physiol Cell Physiol
Title: Ca2+ influx through alpha1S DHPR may play a role in regulating Ca2+ release from RyR1 in skeletal muscle.
Volume: 286
Issue: 1
Pages: C73-8
Publication
First Author: Chang L
Year: 2020
Journal: J Biol Chem
Title: Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia.
Volume: 295
Issue: 45
Pages: 15226-15235
Publication    
First Author: Hanson MG
Year: 2015
Journal: Elife
Title: Potassium dependent rescue of a myopathy with core-like structures in mouse.
Volume: 4
Publication
First Author: Nogami K
Year: 2020
Journal: BMC Musculoskelet Disord
Title: iNOS is not responsible for RyR1 S-nitrosylation in mdx mice with truncated dystrophin.
Volume: 21
Issue: 1
Pages: 479
Publication
First Author: Germani S
Year: 2022
Journal: Sci Rep
Title: Loss-of-rescue of Ryr1(I4895T)-related pathology by the genetic inhibition of the ER stress response mediator CHOP.
Volume: 12
Issue: 1
Pages: 20632
Publication
First Author: Gartz Hanson M
Year: 2015
Journal: Dev Biol
Title: Rectification of muscle and nerve deficits in paralyzed ryanodine receptor type 1 mutant embryos.
Volume: 404
Issue: 2
Pages: 76-87
Publication
First Author: Kakizawa S
Year: 2012
Journal: EMBO J
Title: Nitric oxide-induced calcium release via ryanodine receptors regulates neuronal function.
Volume: 31
Issue: 2
Pages: 417-28
Publication
First Author: Yamazawa T
Year: 2021
Journal: Nat Commun
Title: A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke.
Volume: 12
Issue: 1
Pages: 4293
Publication
First Author: Andersson DC
Year: 2012
Journal: J Physiol
Title: Stress-induced increase in skeletal muscle force requires protein kinase A phosphorylation of the ryanodine receptor.
Volume: 590
Issue: 24
Pages: 6381-7
Publication
First Author: Wright NT
Year: 2008
Journal: J Biol Chem
Title: S100A1 and calmodulin compete for the same binding site on ryanodine receptor.
Volume: 283
Issue: 39
Pages: 26676-83
Publication
First Author: Barone V
Year: 1998
Journal: FEBS Lett
Title: Contractile impairment and structural alterations of skeletal muscles from knockout mice lacking type 1 and type 3 ryanodine receptors.
Volume: 422
Issue: 2
Pages: 160-4
Publication
First Author: Andersson DC
Year: 2011
Journal: Cell Metab
Title: Ryanodine receptor oxidation causes intracellular calcium leak and muscle weakness in aging.
Volume: 14
Issue: 2
Pages: 196-207
Publication
First Author: Zvaritch E
Year: 2007
Journal: Proc Natl Acad Sci U S A
Title: An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line.
Volume: 104
Issue: 47
Pages: 18537-42
Publication      
First Author: Brennan S
Year: 2019
Journal: Hum Mol Genet
Title: Mouse model of severe recessive RYR1-related myopathy.
Publication
First Author: Magyar ZÉ
Year: 2023
Journal: Sci Rep
Title: Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy.
Volume: 13
Issue: 1
Pages: 14659
Publication    
First Author: Ruiz A
Year: 2022
Journal: Elife
Title: Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors.
Volume: 11
Publication
First Author: Boncompagni S
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: Characterization and temporal development of cores in a mouse model of malignant hyperthermia.
Volume: 106
Issue: 51
Pages: 21996-2001
Publication
First Author: Giulivi C
Year: 2011
Journal: J Biol Chem
Title: Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.
Volume: 286
Issue: 1
Pages: 99-113
Publication
First Author: Eltit JM
Year: 2013
Journal: FASEB J
Title: Nonspecific sarcolemmal cation channels are critical for the pathogenesis of malignant hyperthermia.
Volume: 27
Issue: 3
Pages: 991-1000
Publication
First Author: Fritz N
Year: 2007
Journal: J Cell Sci
Title: RyR1-specific requirement for depolarization-induced Ca2+ sparks in urinary bladder smooth muscle.
Volume: 120
Issue: Pt 21
Pages: 3784-91
Publication  
First Author: Osman V
Year: 2023
Journal: eNeuro
Title: Isoflurane Alters Presynaptic Endoplasmic Reticulum Calcium Dynamics in Wild-Type and Malignant Hyperthermia-Susceptible Rodent Hippocampal Neurons.
Volume: 10
Issue: 8
Publication
First Author: Zvaritch E
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.
Volume: 106
Issue: 51
Pages: 21813-8
Publication
First Author: De Crescenzo V
Year: 2012
Journal: Proc Natl Acad Sci U S A
Title: Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype.
Volume: 109
Issue: 2
Pages: 610-5
Publication
First Author: Suman M
Year: 2018
Journal: Hum Mol Genet
Title: Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.
Volume: 27
Issue: 13
Pages: 2367-2382
Publication
First Author: Mickelson JR
Year: 1996
Journal: Physiol Rev
Title: Malignant hyperthermia: excitation-contraction coupling, Ca2+ release channel, and cell Ca2+ regulation defects.
Volume: 76
Issue: 2
Pages: 537-92
Publication
First Author: Avila G
Year: 2003
Journal: J Gen Physiol
Title: The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease.
Volume: 121
Issue: 4
Pages: 277-86
Publication
First Author: Beutner G
Year: 2005
Journal: Biochim Biophys Acta
Title: Type 1 ryanodine receptor in cardiac mitochondria: transducer of excitation-metabolism coupling.
Volume: 1717
Issue: 1
Pages: 1-10
Publication
First Author: Fourest-Lieuvin A
Year: 2012
Journal: J Cell Sci
Title: Role of triadin in the organization of reticulum membrane at the muscle triad.
Volume: 125
Issue: Pt 14
Pages: 3443-53
Publication
First Author: Bellinger AM
Year: 2008
Journal: Proc Natl Acad Sci U S A
Title: Remodeling of ryanodine receptor complex causes "leaky" channels: a molecular mechanism for decreased exercise capacity.
Volume: 105
Issue: 6
Pages: 2198-202
Publication
First Author: Tjondrokoesoemo A
Year: 2013
Journal: J Biol Chem
Title: Type 1 inositol (1,4,5)-trisphosphate receptor activates ryanodine receptor 1 to mediate calcium spark signaling in adult mammalian skeletal muscle.
Volume: 288
Issue: 4
Pages: 2103-9
Publication
First Author: Sun QA
Year: 2011
Journal: Proc Natl Acad Sci U S A
Title: Oxygen-coupled redox regulation of the skeletal muscle ryanodine receptor-Ca2+ release channel by NADPH oxidase 4.
Volume: 108
Issue: 38
Pages: 16098-103
Publication
First Author: Mori F
Year: 2000
Journal: Neurosci Lett
Title: Developmental changes in expression of the three ryanodine receptor mRNAs in the mouse brain.
Volume: 285
Issue: 1
Pages: 57-60
Publication
First Author: Yang D
Year: 2001
Journal: J Biol Chem
Title: RyR3 amplifies RyR1-mediated Ca(2+)-induced Ca(2+) release in neonatal mammalian skeletal muscle.
Volume: 276
Issue: 43
Pages: 40210-4
Publication
First Author: Polster A
Year: 2016
Journal: Proc Natl Acad Sci U S A
Title: Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation.
Volume: 113
Issue: 39
Pages: 10986-91
Publication
First Author: Komazaki S
Year: 1998
Journal: Cell Tissue Res
Title: Morphological abnormalities of adrenal gland and hypertrophy of liver in mutant mice lacking ryanodine receptors.
Volume: 294
Issue: 3
Pages: 467-73
Publication  
First Author: Serano M
Year: 2022
Journal: Cells
Title: Oxygen Consumption and Basal Metabolic Rate as Markers of Susceptibility to Malignant Hyperthermia and Heat Stroke.
Volume: 11
Issue: 16
Publication
First Author: Tang W
Year: 2004
Journal: FASEB J
Title: Altered excitation-contraction coupling with skeletal muscle specific FKBP12 deficiency.
Volume: 18
Issue: 13
Pages: 1597-9
Publication
First Author: Feng W
Year: 2011
Journal: Mol Pharmacol
Title: Functional and biochemical properties of ryanodine receptor type 1 channels from heterozygous R163C malignant hyperthermia-susceptible mice.
Volume: 79
Issue: 3
Pages: 420-31
Publication
First Author: Barrientos GC
Year: 2012
Journal: J Biol Chem
Title: Gene dose influences cellular and calcium channel dysregulation in heterozygous and homozygous T4826I-RYR1 malignant hyperthermia-susceptible muscle.
Volume: 287
Issue: 4
Pages: 2863-76
Publication
First Author: Lefebvre R
Year: 2011
Journal: J Physiol
Title: Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.
Volume: 589
Issue: Pt 22
Pages: 5361-82
Publication
First Author: Yamaguchi N
Year: 2011
Journal: Am J Physiol Cell Physiol
Title: Modulation of sarcoplasmic reticulum Ca2+ release in skeletal muscle expressing ryanodine receptor impaired in regulation by calmodulin and S100A1.
Volume: 300
Issue: 5
Pages: C998-C1012
Publication
First Author: Huang W
Year: 2011
Journal: Exp Eye Res
Title: Localization and phenotype-specific expression of ryanodine calcium release channels in C57BL6 and DBA/2J mouse strains.
Volume: 93
Issue: 5
Pages: 700-9
Publication
First Author: Avila G
Year: 2000
Journal: J Gen Physiol
Title: Functional impact of the ryanodine receptor on the skeletal muscle L-type Ca(2+) channel.
Volume: 115
Issue: 4
Pages: 467-80
Publication
First Author: Giannini G
Year: 1995
Journal: J Cell Biol
Title: The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues.
Volume: 128
Issue: 5
Pages: 893-904
Publication
First Author: Sawada K
Year: 2008
Journal: Neuroscience
Title: Differential alterations in expressions of ryanodine receptor subtypes in cerebellar cortical neurons of an ataxic mutant, rolling mouse Nagoya.
Volume: 152
Issue: 3
Pages: 609-17
Publication
First Author: Bellinger AM
Year: 2009
Journal: Nat Med
Title: Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle.
Volume: 15
Issue: 3
Pages: 325-30
Publication
First Author: Tiso N
Year: 2001
Journal: Hum Mol Genet
Title: Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
Volume: 10
Issue: 3
Pages: 189-94
Publication
First Author: Kimura T
Year: 2005
Journal: Hum Mol Genet
Title: Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.
Volume: 14
Issue: 15
Pages: 2189-200
Publication
First Author: Lopez JR
Year: 2018
Journal: Br J Anaesth
Title: Malignant hyperthermia, environmental heat stress, and intracellular calcium dysregulation in a mouse model expressing the p.G2435R variant of RYR1.
Volume: 121
Issue: 4
Pages: 953-961
Publication
First Author: Yuen B
Year: 2012
Journal: FASEB J
Title: Mice expressing T4826I-RYR1 are viable but exhibit sex- and genotype-dependent susceptibility to malignant hyperthermia and muscle damage.
Volume: 26
Issue: 3
Pages: 1311-22
Publication
First Author: Flucher BE
Year: 1999
Journal: J Cell Biol
Title: Type 3 and type 1 ryanodine receptors are localized in triads of the same mammalian skeletal muscle fibers.
Volume: 146
Issue: 3
Pages: 621-30
Publication
First Author: Stolk M
Year: 2006
Journal: J Leukoc Biol
Title: IP3Rs are sufficient for dendritic cell Ca2+ signaling in the absence of RyR1.
Volume: 80
Issue: 3
Pages: 651-8
Publication
First Author: Liu Y
Year: 2019
Journal: PLoS Genet
Title: Blocking skeletal muscle DHPRs/Ryr1 prevents neuromuscular synapse loss in mutant mice deficient in type III Neuregulin 1 (CRD-Nrg1).
Volume: 15
Issue: 3
Pages: e1007857
Publication
First Author: Marks AR
Year: 1997
Journal: Am J Physiol
Title: Intracellular calcium-release channels: regulators of cell life and death.
Volume: 272
Issue: 2 Pt 2
Pages: H597-605
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory