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More than a 'speed gene': ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries
A common null polymorphism (rs1815739; R577X) in the gene that codes for α-actinin-3
(ACTN3) has been related to different aspects of exercise performance. Individuals who are …
(ACTN3) has been related to different aspects of exercise performance. Individuals who are …
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease
A common null polymorphism in the ACTN3 gene (rs1815739: C> T) results in replacement
of an arginine (R) with a premature stop codon (X) at amino acid 577 in the fast muscle …
of an arginine (R) with a premature stop codon (X) at amino acid 577 in the fast muscle …
[HTML][HTML] How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'
An estimated 1.5 billion people worldwide are deficient in the skeletal muscle protein α-
actinin-3 due to homozygosity for the common ACTN3 R577X polymorphism. α-Actinin-3 …
actinin-3 due to homozygosity for the common ACTN3 R577X polymorphism. α-Actinin-3 …
[HTML][HTML] Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation
VL Wyckelsma, T Venckunas, PJ Houweling… - The American Journal of …, 2021 - cell.com
The protein α-actinin-3 expressed in fast-twitch skeletal muscle fiber is absent in 1.5 billion
people worldwide due to homozygosity for a nonsense polymorphism in ACTN3 (R577X) …
people worldwide due to homozygosity for a nonsense polymorphism in ACTN3 (R577X) …
ACTN3 R577X Genotype and Exercise Phenotypes in Recreational Marathon Runners
Background: Homozygosity for the X-allele in the ACTN3 R577X (rs1815739) polymorphism
results in the complete absence of α-actinin-3 in sarcomeres of fast-type muscle fibers. In …
results in the complete absence of α-actinin-3 in sarcomeres of fast-type muscle fibers. In …
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion
A common null polymorphism (R577X) in ACTN3 causes α-actinin-3 deficiency in∼ 18% of
the global population. There is no associated disease phenotype, but α-actinin-3 deficiency …
the global population. There is no associated disease phenotype, but α-actinin-3 deficiency …
The ACTN3 R577X Polymorphism Is Associated with Cardiometabolic Fitness in Healthy Young Adults
CL Deschamps, KE Connors, MS Klein, VL Johnsen… - PloS one, 2015 - journals.plos.org
Homozygosity for a premature stop codon (X) in the ACTN3 “sprinter” gene is common in
humans despite the fact that it reduces muscle size, strength and power. Because of the …
humans despite the fact that it reduces muscle size, strength and power. Because of the …
Response to Wyckelsma et al.: Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generation
The common loss-of-function mutation R577X in the structural muscle protein ACTN3
emerged as a potential target of positive selection from early studies and has been the focus …
emerged as a potential target of positive selection from early studies and has been the focus …
Association of the ACTN3 Gene's Single-Nucleotide Variant Rs1815739 (R577X) with Sports Qualification and Competitive Distance in Caucasian Athletes of the …
OV Balberova, NA Shnayder, EV Bykov, YE Zakaryukin… - Genes, 2023 - mdpi.com
An elite athlete's status is associated with a multifactorial phenotype depending on many
environmental and genetic factors. Of course, the peculiarities of the structure and function of …
environmental and genetic factors. Of course, the peculiarities of the structure and function of …
The ACTN3 577XX null genotype is associated with low left ventricular dilation-free survival rate in patients with Duchenne muscular dystrophy
M Nagai, H Awano, T Yamamoto, R Bo, M Matsuo… - Journal of Cardiac …, 2020 - Elsevier
Background Duchenne muscular dystrophy (DMD) is a fatal progressive muscle-wasting
disease caused by mutations in the DMD gene. Dilated cardiomyopathy is the leading cause …
disease caused by mutations in the DMD gene. Dilated cardiomyopathy is the leading cause …