An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line
about
Molecular basis of cleft palates in miceMalignant hyperthermia: a reviewPerspectives on: SGP symposium on mitochondrial physiology and medicine: molecular identities of mitochondrial Ca2+ influx mechanism: updated passwords for accessing mitochondrial Ca2+-linked health and diseaseSelenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscleSkeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractilityCongenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3.Eif4a3 is required for accurate splicing of the Xenopus laevis ryanodine receptor pre-mRNARyanodine receptor channelopathies.The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy.Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutantsMalignant hyperthermia: a pharmacogenetic disorder.Type 1 ryanodine receptor knock-in mutation causing central core disease of skeletal muscle also displays a neuronal phenotype.De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.Gene profiling of embryonic skeletal muscle lacking type I ryanodine receptor Ca(2+) release channel.Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rodsRyanodine receptor studies using genetically engineered mice.A chemical chaperone improves muscle function in mice with a RyR1 mutation.The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models?Calcium signaling in skeletal muscle development, maintenance and regeneration.Calcitonin gene-related peptide restores disrupted excitation-contraction coupling in myotubes expressing central core disease mutations in RyR1.Potassium dependent rescue of a myopathy with core-like structures in mouse.The signaling protein CD38 is essential for early embryonic development.Altered Ca2+ concentration, permeability and buffering in the myofibre Ca2+ store of a mouse model of malignant hyperthermia.Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.
P2860
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P2860
An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line
description
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
article publié dans les Procee ...... f the United States of America
@fr
artículu científicu espublizáu en 2007
@ast
im November 2007 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2007/11/20)
@sk
vědecký článek publikovaný v roce 2007
@cs
wetenschappelijk artikel (gepubliceerd op 2007/11/20)
@nl
наукова стаття, опублікована в листопаді 2007
@uk
name
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@ast
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@en
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@nl
type
label
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@ast
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@en
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@nl
prefLabel
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@ast
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@en
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@nl
P2093
P2860
P3181
P356
P1476
An Ryr1I4895T mutation abolish ...... fspring of a mutant mouse line
@en
P2093
Alexander Kraev
Anthony O. Gramolini
Christine E. Seidman
David H. Maclennan
Elena Zvaritch
Frederic Depreux
J. G. Seidman
Natasha Kraeva
Robert T. Dirksen
Ryan E. Loy
P2860
P304
18537–18542
P3181
P356
10.1073/PNAS.0709312104
P407
P577
2007-11-20T00:00:00Z