[1]
|
Ahmetov, I. I., Donnikov, A. E., & Trofimov, D. Y. (2014). ACTN3 Genotype Is Associated with Testosterone Levels of Athletes. Biology of Sport, 31, 105-108.
|
[2]
|
Berman, Y., & North, K. N. (2010). A Gene for Speed: The Emerging Role of Alpha-Actinin-3 in Muscle Metabolism. Physiology, 25, 250-259. https://doi.org/10.1152/physiol.00008.2010
|
[3]
|
Costill, D. L., Daniels, J., Evans, W., Fink, W., Krahenbuhl, G., & Saltin, B. (1976). Skeletal Muscle Enzymes and Fiber Composition in Male and Female Track Athletes. Journal of Applied Physiology, 40, 149-154. https://doi.org/10.1152/jappl.1976.40.2.149
|
[4]
|
Garatachea, N., Verde, Z., Santos-Lozano, A., Yvert, T., Rodriguez-Romo, G., Sarasa, F.J., Hernández-Sánchez, S., Santiago, C., & Lucia, A. (2014). ACTN3 R577X Polymorphism and Explosive Leg-Muscle Power in Elite Basketball Players. International Journal of Sports Physiology and Performance, 9, 226-232. https://doi.org/10.1123/ijspp.2012-0331
|
[5]
|
Garton, F. C., Seto, J. T., Quinlan, K. G., Yang, N., Houweling, P. J., & North, K. N. (2014). α-Actinin-3 Deficiency Alters Muscle Adaptation in Response to Denervation and Immobilization. Human Molecular Genetics, 23, 1879-1893. https://doi.org/10.1093/hmg/ddt580
|
[6]
|
Head, S. I., Chan, S., Houweling, P. J., Quinlan, K. G., Murphy, R., Wagner, S., Friedrich, O., & North, K. N. (2015). Altered Ca2+ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution. PLoS Genetics, 11, e1004862. https://doi.org/10.1371/journal.pgen.1004862
|
[7]
|
Houweling, P. J., Papadimitriou, I. D., Seto, J. T., Pérez, L. M., Coso, J. D., North, K. N., Lucia, A., & Eynon, N. (2018). Is Evolutionary Loss Our Gain? The Role of ACTN3 p.Arg577Ter (R577X) Genotype in Athletic Performance, Ageing, and Disease. Human Mutation, 39, 1774-1787. https://doi.org/10.1002/humu.23663
|
[8]
|
Lewis, E. K., Haaland, W. C., Nguyen, F., Heller, D. A., Allen, M. J., MacGregor R. R., Berger C. S., Willingham, B., Burns, L. A., Scott, G. B. I., Kittrell, C., Johnson B. R., Curl, R. F., & Metzker, M. L. (2005). Color-Blind Fluorescence Detection for Four-Color DNA Sequencing. Proceedings of the National Academy of Sciences of the United States of America, 102, 5346-5351. https://doi.org/10.1073/pnas.0501606102
|
[9]
|
MacArthur, D. G., Seto, J. T., Chan, S., Quinlan, K. G., Raftery, J. M., Turner, N., Nicholson, M. D., Kee, A. J., Hardeman, E. C., Gunning, P. W., Cooney, G. J., Head, S. I., Yang, N., & North, K. N. (2008). An Actn3 Knockout Mouse Provides Mechanistic Insights into the Association between Alpha-Actinin-3 Deficiency and Human Athletic Performance. Human Molecular Genetics, 17, 1076-1086. https://doi.org/10.1093/hmg/ddm380
|
[10]
|
MacArthur, D. G., Seto, J. T., Raftery, J. M., Quinlan, K. G., Huttley, G. A., Hook, J. W., Lemckert, F. A., Kee, A. J., Edwards, M. R., Berman, Y., Hardeman, E. C., Gunning, P. W., Easteal, S., Yang, N., & North, K. N. (2007). Loss of ACTN3 Gene Function Alters Mouse Muscle Metabolism and Shows Evidence of Positive Selection in Humans. Nature Genetics, 39, 1261-1265. https://doi.org/10.1038/ng2122
|
[11]
|
Masaki, T., Endo, M., & Ebashi, S. (1967). Localization of 6S Component of an Alpha-Actinin at Z-Band. Journal of Biochemistry, 62, 630-632. https://doi.org/10.1093/oxfordjournals.jbchem.a128717
|
[12]
|
Mikami, E., Fuku, N., Murakami, H., Tsuchie, H., Takahashi, H., Ohiwa, N., Tanaka, H., Pitsiladis, Y. P., Higuchi, M., Miyachi, M., Kawahara, T., & Tanaka, M. (2014). ACTN3 R577X Genotype Is Associated with Sprinting in Elite Japanese Athletes. International Journal of Sports Medicine, 35, 172-177. https://doi.org/10.1055/s-0033-1347171
|
[13]
|
Mills, M., Yang, N., Weinberger, R., Vander Woude, D. L., Beggs, A. H., Easteal, S., & North, K. (2001). Differential Expression of the Actin-Binding Proteins, α-Actinin-2 and -3, in Different Species: Implications for the Evolution of Functional Redundancy. Human Molecular Genetics, 10, 1335-1346. https://doi.org/10.1093/hmg/10.13.1335
|
[14]
|
North, K. N., Yang, N., Wattanasirichaigoon, D., Mills, M., Easteal, S., & Beggs, A. H. (1999). A Common Nonsense Mutation Results in Alpha-Actinin-3 Deficiency in the General Population. Nature Genetics, 21, 353-354. https://doi.org/10.1038/7675
|
[15]
|
Orysiak, J., Busko, K., Michalski, R., Mazur-Rozycka, J., Gajewski, J., Malczewska-Lenczowska, J., Sitkowski, D., & Pokrywka, A. (2014). Relationship between ACTN3 R577X Polymorphism and Maximal Power Output in Elite Polish Athletes. Medicina, 50, 303-308. https://doi.org/10.1016/j.medici.2014.10.002
|
[16]
|
Papadimitriou, I. D., Eynon, N., Yan, X., Munson, F., Jacques, M., Kuang, J., Voisin, S., North, K.N., & Bishop, D. J. (2019). A “Human Knockout” Model to Investigate the Influence of the α-Actinin-3 Protein on Exercise-Induced Mitochondrial Adaptations. Scientific Reports, 9, Article No. 12688. https://doi.org/10.1038/s41598-019-49042-y
|
[17]
|
Seto, J. T., Quinlan, K. G., Lek, M., Zheng, XF., Garton, F., MacArthur, D. G., Hogarth, M. W., Houweling, P. J., Gregorevic, P., Turner, N., Cooney, G. J., Yang, N., & North, K. N. (2013). ACTN3 Genotype Influences Muscle Performance through the Regulation of Calcineurin Signaling. Journal of Clinical Investigation, 123, 4255-4263. https://doi.org/10.1172/JCI67691
|
[18]
|
Vincent, B., De Bock, K., Ramaekers, M., Van den Eede, E., Van Leemputte, M., Hespel P. J., & Thomis, M. (2007). The ACTN3 (R577X) Genotype Is Associated with Fiber Type Distribution. Physiological Genomics, 32, 58-63. https://doi.org/10.1152/physiolgenomics.00173.2007
|
[19]
|
Virel, A., & Backman, L. (2004). Molecular Evolution and Structure of Alpha-Actinin. Molecular Biology and Evolution, 21, 1024-1031. https://doi.org/10.1093/molbev/msh094
|
[20]
|
Wyckelsma, V. L., Venckunas, T., Houweling, P. J., Schlittler, M., Lauschke, V. M., Tiong, C. F., Wood, H. D., Ivarsson, N., Paulauskas, H., Eimantas, N., Andersson, D. C., North, K. N., Brazaitis, M., & Westerblad, H. (2021). Loss of α-Actinin-3 during Human Evolution Provides Superior Cold Resilience and Muscle Heat Generation. American Journal of Human Genetics, 108, 446-457. https://doi.org/10.1016/j.ajhg.2021.01.013
|
[21]
|
Yang, N., MacArthur, D. G., Gulbin, J. P., Hahn, A. G., Beggs, A. H., Easteal, S., & North, K. (2003). ACTN3 Genotype Is Associated with Human Elite Athletic Performance. American Journal of Human Genetics, 73, 627-631. https://doi.org/10.1086/377590
|
[22]
|
Yang, N., MacArthur, D. G., Wolde, B., Onywera, V. O., Boit, M. K., Lau, S. Y., Wilson, R. H., Scott, R. A., Pitsiladis, Y. P., & North, K. (2007). The ACTN3 R577X Polymorphism in East and West African Athletes. Medicine and Science in Sports and Exercise, 39, 1985-1988. https://doi.org/10.1249/mss.0b013e31814844c9
|
[23]
|
Yang, R., Shen, X., Wang, Y., Voisin, S., Cai, G., Fu, Y., Xu, W., Eynon, N., Bishop, D. J., & Yan, X. (2017). ACTN3 R577X Gene Variant Is Associated with Muscle-Related Phenotypes in Elite Chinese Sprint/Power Athletes. Journal of Strength and Conditioning Research, 31, 1107-1115. https://doi.org/10.1519/JSC.0000000000001558
|