نتایج جستجو برای: actn3
تعداد نتایج: 244 فیلتر نتایج به سال:
BACKGROUND Pompe's disease is a progressive myopathy caused by mutations in the lysosomal enzyme acid alphaglucosidase gene (GAA). A wide clinical variability occurs also in patients sharing the same GAA mutations, even within the same family. METHODS For a large series of GSDII patients we collected some clinical data as age of onset of the disease, presence or absence of muscular pain, Walt...
actins are small globular filaments functioning in cell processes like muscle contraction, and stabilized to the sarcomeric z- discs by actin binding proteins (actinins). one of the important gene coding for actin binding proteins in fast twitch fibers is alpha- actinin- 3 (actn3). in this research, we have conducted a gene profile study investigating the genotype and allele distributions of ac...
a common polymorphism in the α-actinin-3 (ACTN3 r577X) gene represents one of the most widely examined variations in terms of performance and genetic predisposition to certain sports. the aim of the present study was to examine the ACTN3 r577X polymorphism in elite turkish wind surfers. the genotyping procedure was carried out by polymerase chain reaction-restriction fragment length polymorphis...
A common polymorphism in the α -actinin-3 ( ACTN3 R577X) gene represents one of the most widely examined variations in terms of performance and genetic predisposition to certain sports. The aim of the present study was to examine the ACTN3 R577X polymorphism in elite Turkish wind surfers. The genotyping procedure was carried out by polymerase chain reaction-restriction fragment length polymorph...
The R577X polymorphism in the alpha-actinin-3 encoding gene (ACTN3) has been associated with elite athletic performance, and recently with differences in isometric and dynamic muscle strength and power in the general population. In this study we sought to determine the association of ACTN3 R577X genotype with muscle strength and mass phenotypes in men and women across the adult age span. Eight ...
Strenuous exercise results in damage to skeletal muscle that is manifested in delayed muscle pain, prolonged strength loss, and increases in muscle proteins in the blood, especially creatine kinase (CK) and myoglobin (Mb). Some individuals experience profound changes in these variables in response to standard laboratory exercise or recreational activities. We proposed that variations in genes c...
Over the last couple of decades, research has focused on attempting to understand the genetic influence on sports performance. This has led to the identification of a number of candidate genes which may help differentiate between elite and non-elite athletes. One of the most promising genes in that regard is ACTN3, which has commonly been referred to as "a gene for speed". Recent research has e...
Recent research has analyzed the genetic factors that influence world-class athletic status. Much of what we know comes from association studies, with the ACE I/D and ACTN3 R577X polymorphisms having been extensively studied. The association between the ACTN3 R577X variation and elite athlete status in power sports is strongly documented, yet whether the current body of knowledge on other varia...
Myostatin (MSTN) and α-actinin-3 (ACTN3) genes are potentially associated with preservation of muscle mass and oxidative capacity, respectively. To explore the possible role of these genes in exceptional longevity (EL), the allele/genotype frequency distribution of two polymorphisms in MSTN (rs1805086, K153R) and ACTN3 (rs1815739, R577X) was studied in Japanese centenarians of both sexes (n = 7...
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