C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
about
Pathogenic mechanisms in centronuclear myopathiesApproach to the diagnosis of congenital myopathiesStructural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complexRare variant mutations identified in pediatric patients with dilated cardiomyopathyThe transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle diseaseGenetic epidemiology of titin-truncating variants in the etiology of dilated cardiomyopathy.Biophysical characterization of naturally occurring titin M10 mutationsTruncations of titin causing dilated cardiomyopathy.Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic originsCardiac titin and heart disease.Muscle giants: molecular scaffolds in sarcomerogenesis.Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.Prevalence of Titin Truncating Variants in General Population.Titin mutation segregates with hereditary myopathy with early respiratory failure.Regulation and physiological roles of the calpain system in muscular disordersA new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathyAn internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafishTitin is a major human disease gene.Multi-minicore DiseaseCalpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.The rho-guanine nucleotide exchange factor domain of obscurin activates rhoA signaling in skeletal muscle.Alternative Splicing, Internal Promoter, Nonsense-Mediated Decay, or All Three: Explaining the Distribution of Truncation Variants in Titin.Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.Increasing Role of Titin Mutations in Neuromuscular Disorders.Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human diseaseBinding of Myomesin to Obscurin-Like-1 at the Muscle M-Band Provides a Strategy for Isoform-Specific Mechanical Protection.Role of the sarcomeric Z-disc in the pathogenesis of cardiomyopathy.From the research laboratory to the database: the Caenorhabditis elegans kinome in UniProtKBRecessive TTN truncating mutations define novel forms of core myopathy with heart disease.Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.Cardiac titin: a multifunctional giantGenetics of neuromuscular disorders.Core myopathies and malignant hyperthermia susceptibility: a review.Genetic basis of limb-girdle muscular dystrophies: the 2014 updateA rising titan: TTN review and mutation update.Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin.The sarcomeric M-region: a molecular command center for diverse cellular processes.Titin mutations: the fall of Goliath.Mitochondrial abnormalities in the myofibrillar myopathies.
P2860
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P2860
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
@en
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
@nl
type
label
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
@en
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
@nl
prefLabel
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
@en
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
@nl
P2093
P2860
P356
P1433
P1476
C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.
@en
P2093
Ana Ferreiro
Brigitte Estournet
France Leturcq
Isabelle Richard
Jon A Urtizberea
Kevin P Campbell
Maowia M Mukhtar
Mathias Gautel
Michel Fardeau
Molham M Al Rayess
P2860
P304
P356
10.1002/ANA.21089
P577
2007-04-01T00:00:00Z