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Tropomodulin capping of actin filaments in striated muscle development and physiologyA short splice form of Xin-actin binding repeat containing 2 (XIRP2) lacking the Xin repeats is required for maintenance of stereocilia morphology and hearing functionNeb: a zebrafish model of nemaline myopathy due to nebulin mutation.Regulation of structure and function of sarcomeric actin filaments in striated muscle of the nematode Caenorhabditis elegans.Comparison of muscle transcriptome between pigs with divergent meat quality phenotypes identifies genes related to muscle metabolism and structureOligomeric state of purified transient receptor potential melastatin-1 (TRPM1), a protein essential for dim light vision.Comprehensive variation discovery in single human genomes.Mutation update: the spectra of nebulin variants and associated myopathies.Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments.The sarcomeric Z-disc and Z-discopathies.Effects of aging, exercise, and disease on force transfer in skeletal muscle.Differences in gene expression between strabismic and normal human extraocular muscles.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.Myosin and Actin Filaments in Muscle: Structures and Interactions.Sarcomere Dysfunction in Nemaline Myopathy.Actin in striated muscle: recent insights into assembly and maintenanceThin filament length in the cardiac sarcomere varies with sarcomere length but is independent of titin and nebulin.Exome sequencing reveals a nebulin nonsense mutation in a dog model of nemaline myopathy.Natural selection shaped the rise and fall of passenger pigeon genomic diversity.A compendium and functional characterization of mammalian genes involved in adaptation to Arctic or Antarctic environments.Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.Co-presentation of adult-onset systemic lupus erythematosus and nemaline myopathy.Recurrent genetic defects in classical Hodgkin lymphoma cell lines.The complexity of titin splicing pattern in human adult skeletal muscles.
P2860
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P2860
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Nebulin, a major player in muscle health and disease
@en
Nebulin, a major player in muscle health and disease
@nl
type
label
Nebulin, a major player in muscle health and disease
@en
Nebulin, a major player in muscle health and disease
@nl
prefLabel
Nebulin, a major player in muscle health and disease
@en
Nebulin, a major player in muscle health and disease
@nl
P2093
P2860
P356
P1433
P1476
Nebulin, a major player in muscle health and disease
@en
P2093
Coen A C Ottenheijm
Henk Granzier
Siegfried Labeit
P2860
P304
P356
10.1096/FJ.10-157412
P407
P577
2010-11-29T00:00:00Z