A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
about
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.ACTN3 genotype is associated with human elite athletic performanceThe ACTN3 R577X nonsense allele is under-represented in elite-level strength athletesGenomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3Genetic variation and exercise-induced muscle damage: implications for athletic performance, injury and ageingGenetic factors associated with exercise performance in atmospheric hypoxiaLoss of gene function and evolution of human phenotypesThe actinin family of actin cross-linking proteins - a genetic perspective.Layer-specific differences of gene expression in extraocular muscles identified by laser-capture microscopy.Identification of differentially expressed genes in distinct skeletal muscles in cattle using cDNA microarray.Greater muscle damage in athletes with ACTN3 R577X (RS1815739) gene polymorphism after an ultra-endurance race: a pilot study.ACTN3 Gene and Susceptibility to Sarcopenia and Osteoporotic Status in Older Korean AdultsFunctional characterization of a haplotype in the AKT1 gene associated with glucose homeostasis and metabolic syndrome.Are 'endurance' alleles 'survival' alleles? Insights from the ACTN3 R577X polymorphism.Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans.Genomic variation in seven Khoe-San groups reveals adaptation and complex African history.The ACTN3 R577X polymorphism across three groups of elite male European athletes.ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women.ACTN3 and MLCK genotype associations with exertional muscle damage.Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes.Role of alpha-actinin-3 in contractile properties of human single muscle fibers: a case series study in paraplegics.Interaction Between ACE I/D and ACTN3 R557X Polymorphisms in Polish Competitive Swimmers.Genetic associations of body composition, flexibility and injury risk with ACE, ACTN3 and COL5A1 polymorphisms in Korean ballerinas.The association of sport performance with ACE and ACTN3 genetic polymorphisms: a systematic review and meta-analysisACTN3 allele frequency in humans covaries with global latitudinal gradientGenotype-phenotype correlation in Pompe disease, a step forward.ACTN3 R577X genotypes associate with Class II and deepbite malocclusionsDetermining the pathogenicity of genetic variants associated with cardiac channelopathies.The ACTN3 R577X variant in sprint and strength performance.Gene coexpression networks reveal key drivers of phenotypic divergence in porcine muscleEvidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscleACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies.Association of the ACTN3 R577X polymorphism with glucose tolerance and gene expression of sarcomeric proteins in human skeletal muscleDiffering evolutionary histories of the ACTN3*R577X polymorphism among the major human geographic groupsThe ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults.Effects of aging, exercise, and disease on force transfer in skeletal muscle.α-Actinin-2 deficiency results in sarcomeric defects in zebrafish that cannot be rescued by α-actinin-3 revealing functional differences between sarcomeric isoforms.ACTN3 Polymorphism: Comparison Between Elite Swimmers and RunnersACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.Muscle-Related Polymorphisms (MSTN rs1805086 and ACTN3 rs1815739) Are Not Associated with Exceptional Longevity in Japanese Centenarians
P2860
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P2860
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh-hant
name
A common nonsense mutation res ...... ncy in the general population.
@en
A common nonsense mutation res ...... ncy in the general population.
@nl
type
label
A common nonsense mutation res ...... ncy in the general population.
@en
A common nonsense mutation res ...... ncy in the general population.
@nl
prefLabel
A common nonsense mutation res ...... ncy in the general population.
@en
A common nonsense mutation res ...... ncy in the general population.
@nl
P2093
P50
P356
P1433
P1476
A common nonsense mutation res ...... ncy in the general population.
@en
P2093
Wattanasirichaigoon D
P2888
P304
P356
10.1038/7675
P407
P577
1999-04-01T00:00:00Z
P5875
P6179
1052927092