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No major effect of alpha-actinin-3 deficiency was found on susceptibility to muscle damage.
A null polymorphism in the ACTN3 gene (rs1815739:C>T) results in a premature stop codon (X) at amino acid 577 in the absence of ACTN-3. Positive selection for the X-allele occurred as modern humans migrated out of Africa. While not causing disease, the absence of ACTN-3 may be detrimental to sprint performance and plays a role in aging, bone health and inherited muscle diseases. [review]
The ACTN3 577X allele is associated with an age- and sex-specific decrease in physical performance and an increase in frailty in an older Chinese population.
The ACTN3 RR genotype frequency was significantly higher among S/J (39.4%) compared with WLs (22.2%) and controls (18.6%).
In the article it is discussed how and to what extent formins-mediated F-actin restoration might confer mechanostress resistance to the cell. (Review)
ACTN3 and MYO1H are associated with sagittal and vertical craniofacial skeletal patterns in Brazilian populations.
The ACTN3 R577X polymorphism is associated with the incidence and severity of muscle injuries in professional soccer players
Our study failed to strongly link ACTN3 genotype with human endurance performance
Study found that two SNPs of unknown function within the ACTN3 gene, rs2290463, rs2275998 are associated with measures of children physical fitness-stand broad jump performance and overweight, respectively.
ACE and ACTN3 genes do not have a role in determining power/strength performance of elite athletes.
The distribution of the genotypic frequencies of the ACTN3 R577X polymorphism in football players did not differ compared to a control sample representative of the Brazilian population. There was a trend towards a higher RX genotype frequency and a lower XX genotype frequency in the professional category compared to the junior categories.
ACTN3 gene dosage in muscle performance was investigated.
ACTN3 is a genetic modifier of Duchenne muscular dystrophy.
We constructed expression plasmids encoding mature mRNA that lacks introns or pre-mRNA, which carries introns for the ACTN3 577X gene (X and Xpre, respectively) and transfected the constructs into HEK293cells. Cells carrying the X gene, but not the Xpre gene, expressed exogenous truncated alpha-actinin-3 protein.
The proportion of the ACTN3 RR genotype is significantly higher in boulderers than in professional sport climbers and may be related to the specific type of predisposition to this subdiscipline.
Prevalence has been found of ACTN3 R577X and of ACE insertion / deletion gene polymorphisms in national and amateur Turkish athletes.
RR and RX genotypes of the ACTN3 R577X polymorphism (corresponding to the presence of alpha-actinin-3 in type II muscle fibers) are associated with increased passive muscle stiffness of the human hamstring in vivo
Concomitant presence of non-functional variant in ACTN3 gene decreased this beneficiary effect of ACE mutation on SBPR3.
Study demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance.
In humans, ACTN3 genotype alone does not contribute to alterations in body mass index or obesity.
Actn3 knockout 129X1/SvJ mice gained less weight compared to wild type
Actn3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
New insights that have been made in understanding the molecular mechanisms that underlie the consequences of alpha-actinin-3 deficiency.[review]
Absence of alpha-actinin-3 resulted in reduced atrophic response and altered adaptation to disuse, as measured by a change in myosin heavy chain isoform.
ACTN3 likely contributes to the regulation of bone mass through alterations in bone turnover.
Data demonstrated that the Z-disk proteins, ZASP, titin and vinculin preferentially bind to alpha-actinin-2. Thus, the loss of alpha-actinin-3 changes the overall protein composition of fast fiber Z-disks and alters their elastic properties.
Actn3 knockout mice showed differences in intrinsic exercise performance, fast muscle force generation and male muscle mass.
alpha-actinin-3 may play a role in the development of fast-twitch, glycolytic properties in a muscle fiber, and in its absence slower twitch, more oxidative properties may develop.
alpha-Actinin-3 deficiency reduces the activity of glycogen phosphorylase and results in a fundamental shift toward more oxidative pathways of energy utilization--REVIEW
alpha-actinin-3 expression in a knockout mouse model results in a shift in muscle metabolism toward the more efficient aerobic pathway and an increase in intrinsic endurance performance
Study reports that muscle from Actn3 knockout mice displays reduced force generation, consistent with results from human association studies.
the shift towards more efficient aerobic muscle metabolism associated with alpha-actinin-3 deficiency also underlies the adaptive benefit of the 577X allele
It was concluded that alpha-actinin-3 deficiency results in fast-twitch, glycolytic fibers developing slower-twitch, more oxidative properties.
Duplication of actn3 in the zebrafish indicates that variation in actn3 expression may promote physiological diversity in muscle function among vertebrates.
examine the dynamics of actin in the presence of alpha-acinin in solution; suggest mechanisms to deny binding access to other actin-binding proteins and may explain how very different actin cytoskeletal structures may co-exist in the same cell
Alpha-actinin may contribute to tension sensing in actin bundles.
DNA sequencing and mutation analysis of the exon 15 and the intron-exon boundaries of ACTN3 revealed 2 new sequence variants in the ACTN3 intron 14-15; these mutations were associated with adipose tissue deposition but not time to fatigue during an exercise test.
The ACTN3 gene is 13.2 kb long and contains 21 exons. The equine ACTN3 gene has a ubiquitous expression but it is overexpressed in skeletal muscles
This gene encodes a member of the alpha-actin binding protein gene family. The encoded protein is primarily expressed in skeletal muscle and functions as a structural component of sarcomeric Z line. This protein is involved in crosslinking actin containing thin filaments. An allelic polymorphism in this gene results in both coding and non-coding variants. The reference genome contains the non-coding allele. The non-functional allele of this gene is associated with elite athlete status.
F-actin cross-linking protein
, alpha-actinin skeletal muscle
, open reading frame 1
, actinin alpha 3
, actinin, alpha 3
, muscle alpha-actinin subunit
, alpha 3 actinin
, actinin alpha 3b