ACTN3 Antibody

1. ACTN3 gene dosage in muscle performance was investigated. PMID: 29706347
2. ACTN3 is a genetic modifier of Duchenne muscular dystrophy. PMID: 28139640
3. 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. PMID: 29857001
4. 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. PMID: 29401200
5. Prevalence has been found of ACTN3 R577X and of ACE insertion / deletion gene polymorphisms in national and amateur Turkish athletes. PMID: 29729690
6. 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 PMID: 29032593
7. Concomitant presence of non-functional variant in ACTN3 gene decreased this beneficiary effect of ACE mutation on SBPR3. PMID: 29269700
8. Study demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. PMID: 29298672
9. In humans, ACTN3 genotype alone does not contribute to alterations in body mass index or obesity. PMID: 28293018
10. Our data indicated that ACTN3 RR genotype has higher maximal voluntary isometric contraction and lower flexibility than X-allele carriers at baseline, but the effect of ACTN3 R577X genotype on these two parameters is limited after isokinetic eccentric contractions. PMID: 29165731
11. RR/RX ACTN3 and ACE DD genotypes may benefit athletes in activities that require strength and speed, while II ACE genotype may benefit athletes in endurance activities. PMID: 28177711
12. findings suggest that the ACTN3 R577X genotype may influence decline in muscle and bone health phenotypes in older Korean adults. PMID: 28626757
13. Tthe ACTN3 R577X polymorphism is a good predictor of both the lipid profile and the prognosis of nutritional intervention in reducing LDL in HIV+ patients. PMID: 27188902
14. The children having both ACTN3 RR or RX genotype and ACE DD genotype showed high systolic blood pressure and low blood HDL cholesterol level, which may be considered a high-risk in metabolic syndrome. PMID: 26483160
15. This study has thus revealed a novel nuclear complex of F-actin, DRR1 and COMMD1 that is involved in NF-kappaB degradation and cell cycle suppression in neuroblastoma cells. PMID: 28604741
16. The RR genotype of ACTN3 R577X in the general Japanese population showed lower flexibility compared to the RX and XX genotypes. PMID: 28303562
17. p16(INK4a) expression in MCF7 breast cancer cells leads to increased cell size, weakened intercellular adhesion and cortical re-distribution of cytoskeletal F-actin. PMID: 28395715
18. our data showed a virtual absence of the variant (K) allele in MSTN rs1805086 in Japanese population, and no differences in allele/genotype frequencies in ACTN3 rs1815739 among centenarians and healthy controls of this country. PMID: 27861536
19. Results indicate that the posthemorrhagic shock mesenteric lymph in vitro increases the cellular permeability of human umbilical vein endothelial cells through suppression of F-actin and VE-cadherin. PMID: 27338534
20. These findings provide the basis for further functional investigations of the ITSN/CR16 complex that may play an important role in actin remodeling and cellular invasion. PMID: 28161632
21. The elite soccer players showed a tendency to a prevalence of ACTN3 RR and ACE DD genotypes both independently and in co-occurrence, in comparison with a general population. PMID: 28337894
22. the ACTN3 R577X polymorphism influences the level of competition and lower-extremity power of elite Chinese sprint/power athletes PMID: 27442335
23. It appears that the response of bone remodelling markers and undercarboxylated osteocalcin to exercise is not explained by the ACTN3 genotype PMID: 28254467
24. We did not identify novel associations between physical activity and ACTN3. PMID: 28177749
25. In comparison to RR homozygotes, X allele carriers for the R577X polymorphism of the ACTN3 gene presented higher values for typical markers of exercise-induced muscle damage during a competitive marathon. PMID: 28154975
26. There was no statistically significant association between angiotensin-converting enzyme or alpha-actinin-3 polymorphisms and the presence of adolescent idiopathic scoliosis in females. PMID: 27819725
27. Study suggests that ACTN3 R577X polymorphism is associated with non-acute ankle sprain in the Chinese Han population. PMID: 27966742
28. X-allele triathletes in the ACTN3 R577X polymorphism presented greater signs of exercise-induced muscle damage during a half-ironman race than RR homozygotes. PMID: 27913923
29. Studied the association between the ACTN3 R577X genotype and elite athlete status in a large Asian (Japanese) cohort of track and field athletes. 003). A significant linear correlation was found between the RR + RX genotype and athlete status. PMID: 26324221
30. the influence of ACTN3 genotypes on the cost of locomotion was investigated. PMID: 26148057
31. Most studies assessing healthy adults demonstrated that 577RX heterozygotes performed intermediately and/or similarly to the RR genotypes. Other studies showed no definitive genetic model with ACTN3 null allele heterozygosity on muscle performance. [review] PMID: 26429734
32. Findings indicate that the IGF2 ApaI polymorphism, but not the ACTN3 R577X polymorphism, may be a candidate gene associated with some types of muscle strength and judo status. PMID: 26677828
33. There may be a relationship between the ACTN3 genotype and HDL-C and adiponectin levels in rugby players. PMID: 26919654
34. Actn3 controls sarcomeric composition and muscle function in a dose-dependent fashion. PMID: 26681802
35. the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league) and genotype frequencies to controls and between playing positions, is reported. PMID: 26757799
36. Our study provides no ervidence for an assocviation between alpha-actinin-3 R577x genotypes and differences in physical performance in adult, professional, U-20 and U-17 years Brazilian first-division soccer players PMID: 25650734
37. ACTN3 and ACE genotypes influence sprint time in elite male athletes; No genotype differences were detected in sprint performance in both Caucasian and African ancestry sprinters PMID: 27075997
38. These results suggest that the ACTN3 gene may play a significant role in determining muscle phenotypes. However, this gene is only one of many factors which could contribute to athletes' performance and muscle phenotypes. PMID: 25488167
39. The present study provides novel findings associating the ACTN3 R577X polymorphism with physiological variables that are connected to endurance performance. PMID: 25939605
40. Our results suggest that the ACTN3 R577X genotype is associated with lower-extremity muscle function in the Japanese population. PMID: 25761735
41. New insights that have been made in understanding the molecular mechanisms that underlie the consequences of alpha-actinin-3 deficiency. PMID: 26802899
42. F-actin and cell-matrix adhesions differently affect membrane dynamics and cell migration. PMID: 26248038
43. The ACTN3 R577X is associated with acute ankle sprains in this study. PMID: 25687200
44. This study aimed at determining the influence of the ACTN3 R577X polymorphism on muscle strength and muscle endurance in non-athletic young men PMID: 25761730
45. s present a simple and cost-efficient method to genotype the ACTN3 r577x polymorphism by a single PCR. PMID: 25831089
46. The ACTN3 R577X polymorphism is associated with cardiometabolic fitness in healthy young adults. PMID: 26107372
47. This suggests that the ACTN3 gene has a greater impact on determining dynamic movements than influencing static muscle strength. PMID: 25734782
48. We show that the ACTN3 R577X polymorphism is associated with human muscle volume and influences maximal isoinertial strength (1-RM) and maximum power (Wmax). PMID: 23384112
49. These results suggest that factors associated with the ACTN3 XX genotype in canoe and kayak paddlers might provide some competitive advantage in performance at 1000 m, but it seems to limit at 200 m. PMID: 25268288
50. ACTN3 R577X polymorphism modulates VO2 of a homogeneous untrained population, by differentiating VO2rep and VO2peak in XX genotype carriers, who may display higher aerobic capacity. PMID: 25569611

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HGNC: 165

OMIM: 102574

KEGG: hsa:89

UniGene: Hs.654432