Published in Am J Physiol Cell Physiol on November 10, 2004
RyR1-mediated Ca2+ leak and Ca2+ entry determine resting intracellular Ca2+ in skeletal myotubes. J Biol Chem (2010) 1.18
A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR. J Gen Physiol (2010) 1.02
Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice. J Biol Chem (2010) 0.91
A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium (2008) 0.81
PharmGKB summary: succinylcholine pathway, pharmacokinetics/pharmacodynamics. Pharmacogenet Genomics (2015) 0.81
Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95). Neurotoxicology (2006) 0.80
Gain of function in the immune system caused by a ryanodine receptor 1 mutation. J Cell Sci (2013) 0.77
Membrane depolarization increases ryanodine sensitivity to Ca2+ release to the cytosol in L6 skeletal muscle cells: Implications for excitation-contraction coupling. Exp Biol Med (Maywood) (2015) 0.75
PharmGKB summary: very important pharmacogene information for RYR1. Pharmacogenet Genomics (2016) 0.75
Timing of new black box warnings and withdrawals for prescription medications. JAMA (2002) 9.65
Altered microRNA expression in human heart disease. Physiol Genomics (2007) 5.64
The CHARGE study: an epidemiologic investigation of genetic and environmental factors contributing to autism. Environ Health Perspect (2006) 3.81
Mitochondrial dysfunction in autism. JAMA (2010) 2.04
Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse. FASEB J (2005) 1.97
Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse. Anesthesiology (2006) 1.97
Murine hippocampal neurons expressing Fmr1 gene premutations show early developmental deficits and late degeneration. Hum Mol Genet (2010) 1.95
Aryl hydrocarbon receptor signaling mediates expression of indoleamine 2,3-dioxygenase. Biochem Biophys Res Commun (2008) 1.89
Autism: maternally derived antibodies specific for fetal brain proteins. Neurotoxicology (2007) 1.87
In vitro biologic activities of the antimicrobials triclocarban, its analogs, and triclosan in bioassay screens: receptor-based bioassay screens. Environ Health Perspect (2008) 1.82
Altered gene expression and function of peripheral blood natural killer cells in children with autism. Brain Behav Immun (2008) 1.79
Reorganized stores and impaired calcium handling in skeletal muscle of mice lacking calsequestrin-1. J Physiol (2007) 1.78
Coordinated movement of cytoplasmic and transmembrane domains of RyR1 upon gating. PLoS Biol (2009) 1.77
Low-level neonatal thimerosal exposure: further evaluation of altered neurotoxic potential in SJL mice. Toxicol Sci (2007) 1.68
NADH oxidase activity of rat cardiac sarcoplasmic reticulum regulates calcium-induced calcium release. Circ Res (2003) 1.67
Heart and skeletal muscle are targets of dengue virus infection. Pediatr Infect Dis J (2010) 1.67
Aryl hydrocarbon receptor signaling regulates NF-κB RelB activation during dendritic-cell differentiation. Immunol Cell Biol (2013) 1.60
Neuromuscular synaptic patterning requires the function of skeletal muscle dihydropyridine receptors. Nat Neurosci (2011) 1.58
Ablation of triadin causes loss of cardiac Ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias. Proc Natl Acad Sci U S A (2009) 1.57
Microarray gene expression profiles in dilated and hypertrophic cardiomyopathic end-stage heart failure. Physiol Genomics (2002) 1.57
Gene expression changes in children with autism. Genomics (2007) 1.55
Enhanced excitation-coupled calcium entry in myotubes expressing malignant hyperthermia mutation R163C is attenuated by dantrolene. Mol Pharmacol (2008) 1.55
Altered T cell responses in children with autism. Brain Behav Immun (2010) 1.53
Conformational activation of Ca2+ entry by depolarization of skeletal myotubes. Proc Natl Acad Sci U S A (2004) 1.51
The skeletal L-type Ca(2+) current is a major contributor to excitation-coupled Ca(2+) entry. J Gen Physiol (2009) 1.50
Triadins modulate intracellular Ca(2+) homeostasis but are not essential for excitation-contraction coupling in skeletal muscle. J Biol Chem (2007) 1.48
[Dysfunction of diastolic [Ca²⁺] in cardiomyocytes isolated from chagasic patients]. Rev Esp Cardiol (2011) 1.47
Associations of impaired behaviors with elevated plasma chemokines in autism spectrum disorders. J Neuroimmunol (2010) 1.46
Decreased transforming growth factor beta1 in autism: a potential link between immune dysregulation and impairment in clinical behavioral outcomes. J Neuroimmunol (2008) 1.41
Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling. J Biol Chem (2003) 1.38
Global gene expression profiling of end-stage dilated cardiomyopathy using a human cardiovascular-based cDNA microarray. Am J Pathol (2002) 1.38
PBDEs in 2-5 year-old children from California and associations with diet and indoor environment. Environ Sci Technol (2010) 1.38
Reduced levels of immunoglobulin in children with autism correlates with behavioral symptoms. Autism Res (2008) 1.37
Expression levels of RyR1 and RyR3 control resting free Ca2+ in skeletal muscle. Am J Physiol Cell Physiol (2004) 1.36
Formulation and characterization of an experimental PCB mixture designed to mimic human exposure from contaminated fish. Toxicol Sci (2005) 1.32
Increased IgG4 levels in children with autism disorder. Brain Behav Immun (2008) 1.32
Cardiac gene expression profiling provides evidence for cytokinopathy as a molecular mechanism in Chagas' disease cardiomyopathy. Am J Pathol (2005) 1.32
Structural characterization of the RyR1-FKBP12 interaction. J Mol Biol (2005) 1.30
Functional analysis of the R1086H malignant hyperthermia mutation in the DHPR reveals an unexpected influence of the III-IV loop on skeletal muscle EC coupling. Am J Physiol Cell Physiol (2004) 1.28
Age-related hearing loss in C57BL/6J mice has both frequency-specific and non-frequency-specific components that produce a hyperacusis-like exaggeration of the acoustic startle reflex. J Assoc Res Otolaryngol (2007) 1.27
Developmental exposure to polychlorinated biphenyls interferes with experience-dependent dendritic plasticity and ryanodine receptor expression in weanling rats. Environ Health Perspect (2008) 1.27
Effects of aging and sensory loss on glial cells in mouse visual and auditory cortices. Glia (2012) 1.26
Conformation-dependent stability of junctophilin 1 (JP1) and ryanodine receptor type 1 (RyR1) channel complex is mediated by their hyper-reactive thiols. J Biol Chem (2007) 1.25
Tipping the balance of autism risk: potential mechanisms linking pesticides and autism. Environ Health Perspect (2012) 1.25
Premutation CGG-repeat expansion of the Fmr1 gene impairs mouse neocortical development. Hum Mol Genet (2010) 1.24
Global increases in both common and rare copy number load associated with autism. Hum Mol Genet (2013) 1.24
Multiple regions of RyR1 mediate functional and structural interactions with alpha(1S)-dihydropyridine receptors in skeletal muscle. Biophys J (2002) 1.23
Functional coupling between TRPC3 and RyR1 regulates the expressions of key triadic proteins. J Biol Chem (2006) 1.23
The ryanodine receptor modulates the spontaneous beating rate of cardiomyocytes during development. Proc Natl Acad Sci U S A (2002) 1.23
Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RyR1 malignant hyperthermia mutations. J Biol Chem (2007) 1.22
Critical amino acid residues determine the binding affinity and the Ca2+ release efficacy of maurocalcine in skeletal muscle cells. J Biol Chem (2003) 1.22
Bidirectional signaling between calcium channels of skeletal muscle requires multiple direct and indirect interactions. Proc Natl Acad Sci U S A (2006) 1.22
Trophoblast inclusions are significantly increased in the placentas of children in families at risk for autism. Biol Psychiatry (2013) 1.21
Toxicology in the fast lane: application of high-throughput bioassays to detect modulation of key enzymes and receptors. Environ Health Perspect (2009) 1.19
Signaling defects in iPSC-derived fragile X premutation neurons. Hum Mol Genet (2012) 1.19
MECP2 promoter methylation and X chromosome inactivation in autism. Autism Res (2008) 1.19
Evidence for conformational coupling between two calcium channels. Proc Natl Acad Sci U S A (2004) 1.18
RyR1-mediated Ca2+ leak and Ca2+ entry determine resting intracellular Ca2+ in skeletal myotubes. J Biol Chem (2010) 1.18
Maurocalcine and peptide A stabilize distinct subconductance states of ryanodine receptor type 1, revealing a proportional gating mechanism. J Biol Chem (2003) 1.17
Principles and practices of neurodevelopmental assessment in children: lessons learned from the Centers for Children's Environmental Health and Disease Prevention Research. Environ Health Perspect (2005) 1.17
Hemicalcin, a new toxin from the Iranian scorpion Hemiscorpius lepturus which is active on ryanodine-sensitive Ca2+ channels. Biochem J (2007) 1.17
Clustered burst firing in FMR1 premutation hippocampal neurons: amelioration with allopregnanolone. Hum Mol Genet (2012) 1.15
Identification of a region of RyR1 that participates in allosteric coupling with the alpha(1S) (Ca(V)1.1) II-III loop. J Biol Chem (2001) 1.15
Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR. Am J Physiol Cell Physiol (2006) 1.14
Transgenic expression of beta-APP in fast-twitch skeletal muscle leads to calcium dyshomeostasis and IBM-like pathology. FASEB J (2006) 1.13
Increased resting intracellular calcium modulates NF-κB-dependent inducible nitric-oxide synthase gene expression in dystrophic mdx skeletal myotubes. J Biol Chem (2012) 1.13
PCB-95 promotes dendritic growth via ryanodine receptor-dependent mechanisms. Environ Health Perspect (2012) 1.12
Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor. Proc Natl Acad Sci U S A (2012) 1.12
Long-lived epigenetic interactions between perinatal PBDE exposure and Mecp2308 mutation. Hum Mol Genet (2012) 1.12
Homer regulates gain of ryanodine receptor type 1 channel complex. J Biol Chem (2002) 1.12
Ryanodine receptor type 1 (RyR1) mutations C4958S and C4961S reveal excitation-coupled calcium entry (ECCE) is independent of sarcoplasmic reticulum store depletion. J Biol Chem (2005) 1.11
Behavioral correlates of maternal antibody status among children with autism. J Autism Dev Disord (2012) 1.11
Early mitochondrial abnormalities in hippocampal neurons cultured from Fmr1 pre-mutation mouse model. J Neurochem (2012) 1.10
PCB-95 modulates the calcium-dependent signaling pathway responsible for activity-dependent dendritic growth. Environ Health Perspect (2012) 1.10
Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder. Environ Mol Mutagen (2012) 1.09
Alpha2delta1 dihydropyridine receptor subunit is a critical element for excitation-coupled calcium entry but not for formation of tetrads in skeletal myotubes. Biophys J (2008) 1.09
One scorpion, two venoms: prevenom of Parabuthus transvaalicus acts as an alternative type of venom with distinct mechanism of action. Proc Natl Acad Sci U S A (2003) 1.09
Triclosan impairs excitation-contraction coupling and Ca2+ dynamics in striated muscle. Proc Natl Acad Sci U S A (2012) 1.08
Mutational analysis of putative calcium binding motifs within the skeletal ryanodine receptor isoform, RyR1. J Biol Chem (2004) 1.05
Identification of hyperreactive cysteines within ryanodine receptor type 1 by mass spectrometry. J Biol Chem (2004) 1.05
RyR1 and RyR3 isoforms provide distinct intracellular Ca2+ signals in HEK 293 cells. J Cell Sci (2002) 1.04
Enhanced asynchronous Ca(2+) oscillations associated with impaired glutamate transport in cortical astrocytes expressing Fmr1 gene premutation expansion. J Biol Chem (2013) 1.04
Triadin/Junctin double null mouse reveals a differential role for Triadin and Junctin in anchoring CASQ to the jSR and regulating Ca(2+) homeostasis. PLoS One (2012) 1.04
TRPC3-interacting triadic proteins in skeletal muscle. Biochem J (2008) 1.04
Para- and ortho-substitutions are key determinants of polybrominated diphenyl ether activity toward ryanodine receptors and neurotoxicity. Environ Health Perspect (2010) 1.03
N-terminal region of FKBP12 is essential for binding to the skeletal ryanodine receptor. J Biol Chem (2004) 1.02