Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
about
Malignant hyperthermia: a reviewApproach to the diagnosis of congenital myopathiesCalcium homeostasis in myogenic differentiation factor 1 (MyoD)-transformed, virally-transduced, skin-derived equine myotubesEpigenetic changes as a common trigger of muscle weakness in congenital myopathies.Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosisSingle channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.Methylation allelic polymorphism (MAP) in chorionic gonadotropin beta5 (CGB5) and its association with pregnancy success.Malignant hyperthermia: a pharmacogenetic disorder.Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene.DNA methylation dynamics in muscle development and disease.The influence of DNA sequence on epigenome-induced pathologies.Sulforaphane causes a major epigenetic repression of myostatin in porcine satellite cellsNovel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.Multi-minicore DiseaseEccentric contractions do not induce rhabdomyolysis in malignant hyperthermia susceptible mice.Genotype-phenotype correlations in recessive RYR1-related myopathies.A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity.Ryanodine receptor-mediated arrhythmias and sudden cardiac death.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Tumor Necrosis Factor Alpha and Insulin-Like Growth Factor 1 Induced Modifications of the Gene Expression Kinetics of Differentiating Skeletal Muscle Cells.RYR1-related myopathies: a wide spectrum of phenotypes throughout life.Myopathology in congenital myopathies.Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1.Allele-specific differences in ryanodine receptor 1 mRNA expression levels may contribute to phenotypic variability in malignant hyperthermia.Clinical utility gene card for: Multi-minicore disease.Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathiesNovel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia familiesExercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations
P2860
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P2860
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
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2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
@ast
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
@en
type
label
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
@ast
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
@en
prefLabel
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
@ast
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
@en
P2093
P2860
P356
P1476
Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.
@en
P2093
Caroline A Sewry
David Monk
Francesco Muntoni
Gudrun E Moore
Haiyan Zhou
Heinz Jungbluth
Martin Brockington
Philip Stanier
P2860
P304
P356
10.1086/508500
P407
P577
2006-09-21T00:00:00Z