Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. - Wikidata - wikimedia - TriplyDB

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

http://www.wikidata.org/entity/Q34440824

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Pathogenic mechanisms in centronuclear myopathies Central core disease STIM2 is a feedback regulator that stabilizes basal cytosolic and endoplasmic reticulum Ca2+ levels Review of RyR1 pathway and associated pathomechanisms Anesthetic- and heat-induced sudden death in calsequestrin-1-knockout mice Localization of an NH(2)-terminal disease-causing mutation hot spot to the "clamp" region in the three-dimensional structure of the cardiac ryanodine receptor.A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR.Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report Regulation and function of selenoproteins in human disease Basal bioenergetic abnormalities in skeletal muscle from ryanodine receptor malignant hyperthermia-susceptible R163C knock-in mice.Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.Endoplasmic reticulum Ca(2+) handling in excitable cells in health and disease Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.AICAR prevents heat-induced sudden death in RyR1 mutant mice independent of AMPK activation.Drosophila ryanodine receptors mediate general anesthesia by halothane Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum.Multi-minicore Disease Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.Genotype-phenotype correlations in recessive RYR1-related myopathies.A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy Skeletal muscle channelopathies: new insights into the periodic paralyses and nondystrophic myotonias.The role of α-dystrobrevin in striated muscle.Core myopathies and malignant hyperthermia susceptibility: a review.Hypothesis: exertional heat stroke-induced myopathy and genetically inherited malignant hyperthermia represent the same disorder, the human stress syndrome.Malignant hyperthermia, a Scandinavian update.RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.Myopathology in congenital myopathies.Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia.Ryanodine receptor activation by Ca v 1.2 is involved in dendritic cell major histocompatibility complex class II surface expression Heat-Induced Calcium Leakage Causes Mitochondrial Damage in Caenorhabditis elegans Body-Wall Muscles.Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice.Regulatory gene networks that shape the development of adaptive phenotypic plasticity in a cichlid fish.Enhanced excitation-coupled calcium entry in myotubes is associated with expression of RyR1 malignant hyperthermia mutations.Congenital myopathies: clinical phenotypes and new diagnostic tools.An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities.

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P2860

Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders.

http://www.wikidata.org/entity/Q34440824

description

2005 nî lūn-bûn

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2005 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2005 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2005年の論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年論文

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2005年论文

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name

Ryanodine receptor 1 mutations ...... s and neuromuscular disorders.

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Ryanodine receptor 1 mutations ...... s and neuromuscular disorders.

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Ryanodine receptor 1 mutations ...... s and neuromuscular disorders.

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type

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Ryanodine receptor 1 mutations ...... s and neuromuscular disorders.

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Ryanodine receptor 1 mutations ...... s and neuromuscular disorders.

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Ryanodine receptor 1 mutations ...... s and neuromuscular disorders.

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prefLabel

Ryanodine receptor 1 mutations ...... s and neuromuscular disorders.

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Ryanodine receptor 1 mutations ...... s and neuromuscular disorders.

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Ryanodine receptor 1 mutations ...... s and neuromuscular disorders.

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J.NMD.2005.06.008

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Neuromuscular Disorders

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Ryanodine receptor 1 mutations ...... is and neuromuscular disorders

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Alexandra Divet

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Ayuk A Anderson

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Christophe Bleunven

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Cristiano Grasso

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Francesco Zorzato

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Silvia Paesante

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Sylvie Ducreux

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577-587

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scholarly article

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10.1016/J.NMD.2005.06.008

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9-10

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15

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2005-10-01T00:00:00Z

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16084090

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