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Volumn 48, Issue 3, 2016, Pages 509-520

The Effect of Heterozygosity for the ACTN3 Null Allele on Human Muscle Performance

Author keywords

ALPHA ACTININ 3; HETEROZYGOUS; QUANTITATIVE TRAIT LOCI; RS1815739

Indexed keywords

ACTININ; ACTN3 PROTEIN, HUMAN; STOP CODON;

EID: 84958933114     PISSN: 01959131     EISSN: 15300315     Source Type: Journal    
DOI: 10.1249/MSS.0000000000000784     Document Type: Article
Times cited : (14)

References (63)
  • 1
    • 84899696209 scopus 로고    scopus 로고
    • ACTN3 genotype is associated with testosterone levels of athletes
    • Ahmetov II, Donnikov AE, Trofimov DY,. ACTN3 genotype is associated with testosterone levels of athletes. Biol Sport. 2014; 31 (2): 105-8.
    • (2014) Biol Sport , vol.31 , Issue.2 , pp. 105-108
    • Ahmetov, I.I.1    Donnikov, A.E.2    Trofimov, D.Y.3
  • 3
    • 82155162383 scopus 로고    scopus 로고
    • The dependence of preferred competitive racing distance on muscle fibre type composition and ACTN3 genotype in speed skaters
    • Ahmetov II, Druzhevskaya AM, Lyubaeva EV, Popov DV, Vinogradova OL, Williams AG,. The dependence of preferred competitive racing distance on muscle fibre type composition and ACTN3 genotype in speed skaters. Exp Physiol. 2011; 96 (12): 1302-10.
    • (2011) Exp Physiol , vol.96 , Issue.12 , pp. 1302-1310
    • Ahmetov, I.I.1    Druzhevskaya, A.M.2    Lyubaeva, E.V.3    Popov, D.V.4    Vinogradova, O.L.5    Williams, A.G.6
  • 4
    • 84871664242 scopus 로고    scopus 로고
    • The association of ACE, ACTN3 and PPARA gene variants with strength phenotypes in middle school-age children
    • Ahmetov II, Gavrilov DN, Astratenkova IV, The association of ACE, ACTN3 and PPARA gene variants with strength phenotypes in middle school-age children. J Physiol Sci. 2013; 63 (1): 79-85.
    • (2013) J Physiol Sci , vol.63 , Issue.1 , pp. 79-85
    • Ahmetov, I.I.1    Gavrilov, D.N.2    Astratenkova, I.V.3
  • 5
    • 80051687981 scopus 로고    scopus 로고
    • ACTN3 genotype, athletic status, and life course physical capability: Meta-analysis of the published literature and findings from nine studies
    • Alfred T, Ben-Shlomo Y, Cooper R, HALCyon study team. ACTN3 genotype, athletic status, and life course physical capability: meta-analysis of the published literature and findings from nine studies. Hum Mutat. 2011; 32 (9): 1008-18.
    • (2011) Hum Mutat , vol.32 , Issue.9 , pp. 1008-1018
    • Alfred, T.1    Ben-Shlomo, Y.2    Cooper, R.3
  • 6
    • 34447569298 scopus 로고    scopus 로고
    • Copy number variants and genetic traits: Closer to the resolution of phenotypic to genotypic variability
    • Beckmann JS, Estivill X, Antonarakis SE,. Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet. 2007; 8 (8): 639-46.
    • (2007) Nat Rev Genet , vol.8 , Issue.8 , pp. 639-646
    • Beckmann, J.S.1    Estivill, X.2    Antonarakis, S.E.3
  • 8
    • 84869066399 scopus 로고    scopus 로고
    • Role of alpha-actinin-3 in contractile properties of human single muscle fibers: A case series study in paraplegics
    • Broos S, Malisoux L, Theisen D, Francaux M, Deldicque L, Thomis MA,. Role of alpha-actinin-3 in contractile properties of human single muscle fibers: a case series study in paraplegics. PLoS One. 2012; 7 (11): e49281.
    • (2012) PLoS One , vol.7 , Issue.11 , pp. e49281
    • Broos, S.1    Malisoux, L.2    Theisen, D.3    Francaux, M.4    Deldicque, L.5    Thomis, M.A.6
  • 9
    • 84937967715 scopus 로고    scopus 로고
    • History-dependent force, angular velocity and muscular endurance in ACTN3 genotypes
    • Broos S, Van Leemputte M, Deldicque L, Thomis MA,. History-dependent force, angular velocity and muscular endurance in ACTN3 genotypes. Eur J Appl Physiol. 2015; 115 (8): 1637-43.
    • (2015) Eur J Appl Physiol , vol.115 , Issue.8 , pp. 1637-1643
    • Broos, S.1    Van Leemputte, M.2    Deldicque, L.3    Thomis, M.A.4
  • 10
    • 84862804586 scopus 로고    scopus 로고
    • ACE I/D, ACTN3 R577X, PPARD T294C and PPARGC1A Gly482Ser polymorphisms and physical fitness in Taiwanese late adolescent girls
    • Chiu LL, Chen TW, Hsieh SS, Hsieh LL,. ACE I/D, ACTN3 R577X, PPARD T294C and PPARGC1A Gly482Ser polymorphisms and physical fitness in Taiwanese late adolescent girls. J Physiol Sci. 2012; 62 (2): 115-21.
    • (2012) J Physiol Sci , vol.62 , Issue.2 , pp. 115-121
    • Chiu, L.L.1    Chen, T.W.2    Hsieh, S.S.3    Hsieh, L.L.4
  • 13
    • 21644474657 scopus 로고    scopus 로고
    • ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women
    • Clarkson PM, Devaney JM, Gordish-Dressman H, ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol (1985). 2005; 99 (1): 154-63.
    • (2005) J Appl Physiol (1985) , vol.99 , Issue.1 , pp. 154-163
    • Clarkson, P.M.1    Devaney, J.M.2    Gordish-Dressman, H.3
  • 14
    • 23044507600 scopus 로고    scopus 로고
    • ACTN3 and MLCK genotype associations with exertional muscle damage
    • Clarkson PM, Hoffman EP, Zambraski E, ACTN3 and MLCK genotype associations with exertional muscle damage. J Appl Physiol (1985). 2005; 99 (2): 564-9.
    • (2005) J Appl Physiol (1985) , vol.99 , Issue.2 , pp. 564-569
    • Clarkson, P.M.1    Hoffman, E.P.2    Zambraski, E.3
  • 15
    • 84908277142 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in Pompe disease, a step forward
    • De Filippi P, Saeidi K, Ravaglia S, Genotype-phenotype correlation in Pompe disease, a step forward. Orphanet J Rare Dis. 2014; 9: 102.
    • (2014) Orphanet J Rare Dis , vol.9 , pp. 102
    • De Filippi, P.1    Saeidi, K.2    Ravaglia, S.3
  • 16
    • 34249712362 scopus 로고    scopus 로고
    • Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women
    • Delmonico MJ, Kostek MC, Doldo NA, Alpha-actinin-3 (ACTN3) R577X polymorphism influences knee extensor peak power response to strength training in older men and women. J Gerontol A Biol Sci Med Sci. 2007; 62 (2): 206-12.
    • (2007) J Gerontol A Biol Sci Med Sci , vol.62 , Issue.2 , pp. 206-212
    • Delmonico, M.J.1    Kostek, M.C.2    Doldo, N.A.3
  • 17
    • 57149115819 scopus 로고    scopus 로고
    • Association of the ACTN3 genotype and physical functioning with age in older adults
    • Delmonico MJ, Zmuda JM, Taylor BC, Health ABC and MrOS Research Groups. Association of the ACTN3 genotype and physical functioning with age in older adults. J Gerontol A Biol Sci Med Sci. 2008; 63 (11): 1227-34.
    • (2008) J Gerontol A Biol Sci Med Sci , vol.63 , Issue.11 , pp. 1227-1234
    • Delmonico, M.J.1    Zmuda, J.M.2    Taylor, B.C.3
  • 18
    • 84880793835 scopus 로고    scopus 로고
    • Genetic polymorphisms associated with exertional rhabdomyolysis
    • Deuster PA, Contreras-Sesvold CL, O'Connor FG, Genetic polymorphisms associated with exertional rhabdomyolysis. Eur J Appl Physiol. 2013; 113 (8): 1997-2004.
    • (2013) Eur J Appl Physiol , vol.113 , Issue.8 , pp. 1997-2004
    • Deuster, P.A.1    Contreras-Sesvold, C.L.2    O'Connor, F.G.3
  • 19
  • 20
    • 84904424665 scopus 로고    scopus 로고
    • The individual and combined influence of ACE and ACTN3 genotypes on muscle phenotypes before and after strength training
    • Erskine RM, Williams AG, Jones DA, Stewart CE, Degens H,. The individual and combined influence of ACE and ACTN3 genotypes on muscle phenotypes before and after strength training. Scand J Med Sci Sports. 2014; 24 (4): 642-8.
    • (2014) Scand J Med Sci Sports , vol.24 , Issue.4 , pp. 642-648
    • Erskine, R.M.1    Williams, A.G.2    Jones, D.A.3    Stewart, C.E.4    Degens, H.5
  • 21
    • 70350439434 scopus 로고    scopus 로고
    • ACTN3 R577X Polymorphism and Israeli top-level athletes
    • Eynon N, Duarte JA, Oliveira J, ACTN3 R577X Polymorphism and Israeli top-level athletes. Int J Sports Med. 2009; 30 (9): 695-8.
    • (2009) Int J Sports Med , vol.30 , Issue.9 , pp. 695-698
    • Eynon, N.1    Duarte, J.A.2    Oliveira, J.3
  • 22
    • 84883216505 scopus 로고    scopus 로고
    • Genes for elite power and sprint performance: ACTN3 leads the way
    • Eynon N, Hanson ED, Lucia A, Genes for elite power and sprint performance: ACTN3 leads the way. Sports Med. 2013; 43 (9): 803-17.
    • (2013) Sports Med , vol.43 , Issue.9 , pp. 803-817
    • Eynon, N.1    Hanson, E.D.2    Lucia, A.3
  • 23
    • 84872845894 scopus 로고    scopus 로고
    • ACTN3 allele frequency in humans covaries with global latitudinal gradient
    • Friedlander SM, Herrmann AL, Lowry DP, ACTN3 allele frequency in humans covaries with global latitudinal gradient. PLoS One. 2013; 8 (1): e52282.
    • (2013) PLoS One , vol.8 , Issue.1 , pp. e52282
    • Friedlander, S.M.1    Herrmann, A.L.2    Lowry, D.P.3
  • 24
    • 84896522025 scopus 로고    scopus 로고
    • ACTN3 R577X polymorphism and explosive leg-muscle power in elite basketball players
    • Garatachea N, Verde Z, Santos-Lozano A, ACTN3 R577X polymorphism and explosive leg-muscle power in elite basketball players. Int J Sports Physiol Perform. 2014; 9 (2): 226-32.
    • (2014) Int J Sports Physiol Perform , vol.9 , Issue.2 , pp. 226-232
    • Garatachea, N.1    Verde, Z.2    Santos-Lozano, A.3
  • 25
    • 84921272594 scopus 로고    scopus 로고
    • α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization
    • Garton FC, Seto JT, Quinlan KG, Yang N, Houweling PJ, North KN,. α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization. Hum Mol Genet. 2014; 23 (7): 1879-93.
    • (2014) Hum Mol Genet , vol.23 , Issue.7 , pp. 1879-1893
    • Garton, F.C.1    Seto, J.T.2    Quinlan, K.G.3    Yang, N.4    Houweling, P.J.5    North, K.N.6
  • 26
    • 84976239583 scopus 로고    scopus 로고
    • No association of α-actinin-3 (ACTN3) and Vitamin D receptor (VDR) genotypes with skeletal muscle phenotypes in young women
    • Gavin JP, Williams AG,. No association of α-actinin-3 (ACTN3) and vitamin D receptor (VDR) genotypes with skeletal muscle phenotypes in young women. Sports Sci Prac Asp. 2010; 7 (1): 5-11.
    • (2010) Sports Sci Prac Asp , vol.7 , Issue.1 , pp. 5-11
    • Gavin, J.P.1    Williams, A.G.2
  • 27
    • 79958089830 scopus 로고    scopus 로고
    • ACTN3 R577X Polymorphism and Neuromuscular Response to Resistance Training
    • Gentil P, Pereira RW, Leite TK, Bottaro M,. ACTN3 R577X Polymorphism and Neuromuscular Response to Resistance Training. J Sports Sci Med. 2011; 10 (2): 393-9.
    • (2011) J Sports Sci Med , vol.10 , Issue.2 , pp. 393-399
    • Gentil, P.1    Pereira, R.W.2    Leite, T.K.3    Bottaro, M.4
  • 29
    • 84924370767 scopus 로고    scopus 로고
    • Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution
    • Head SI, Chan S, Houweling PJ, Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution. PLoS Genet. 2015; 11 (2): e1004862.
    • (2015) PLoS Genet , vol.11 , Issue.2 , pp. e1004862
    • Head, S.I.1    Chan, S.2    Houweling, P.J.3
  • 30
    • 84885180715 scopus 로고    scopus 로고
    • Assessment of association of ACTN3 genetic polymorphism with Korean elite athletic performance
    • Hong SS, Jin HJ,. Assessment of association of ACTN3 genetic polymorphism with Korean elite athletic performance. Genes Genomics. 2013; 35: 617-21.
    • (2013) Genes Genomics , vol.35 , pp. 617-621
    • Hong, S.S.1    Jin, H.J.2
  • 31
    • 79951609727 scopus 로고    scopus 로고
    • The functional ACTN3 577X variant increases the risk of falling in older females: Results from two large independent cohort studies
    • Judson RN, Wackerhage H, Hughes A, The functional ACTN3 577X variant increases the risk of falling in older females: results from two large independent cohort studies. J Gerontol A Biol Sci Med Sci. 2011; 66 (1): 130-5.
    • (2011) J Gerontol A Biol Sci Med Sci , vol.66 , Issue.1 , pp. 130-135
    • Judson, R.N.1    Wackerhage, H.2    Hughes, A.3
  • 32
    • 84905979499 scopus 로고    scopus 로고
    • The ACTN3 R577X polymorphism is associated with muscle power in male Japanese athletes
    • Kikuchi N, Nakazato K, Min SK, Ueda D, Igawa S,. The ACTN3 R577X polymorphism is associated with muscle power in male Japanese athletes. J Strength Cond Res. 2014; 28 (7): 1783-9.
    • (2014) J Strength Cond Res , vol.28 , Issue.7 , pp. 1783-1789
    • Kikuchi, N.1    Nakazato, K.2    Min, S.K.3    Ueda, D.4    Igawa, S.5
  • 33
    • 84925934284 scopus 로고    scopus 로고
    • The ACTN3 R577X genotype is associated with muscle function in a Japanese population
    • Kikuchi N, Yoshida S, Min SK, The ACTN3 R577X genotype is associated with muscle function in a Japanese population. Appl Physiol Nutr Metab. 2015; 4: 316-22.
    • (2015) Appl Physiol Nutr Metab , vol.4 , pp. 316-322
    • Kikuchi, N.1    Yoshida, S.2    Min, S.K.3
  • 34
    • 84924001877 scopus 로고    scopus 로고
    • Association of Angiotensin Converting Enzyme I/D and α-actinin-3 R577X Genotypes with Growth Factors and Physical Fitness in Korean Children
    • Kim K, Ahn N, Cheun W, Byun J, Joo Y,. Association of Angiotensin Converting Enzyme I/D and α-actinin-3 R577X Genotypes with Growth Factors and Physical Fitness in Korean Children. Korean J Physiol Pharmacol. 2015; 19 (2): 131-9.
    • (2015) Korean J Physiol Pharmacol , vol.19 , Issue.2 , pp. 131-139
    • Kim, K.1    Ahn, N.2    Cheun, W.3    Byun, J.4    Joo, Y.5
  • 35
    • 84885645853 scopus 로고    scopus 로고
    • Transcriptome and genome sequencing uncovers functional variation in humans
    • Lappalainen T, Sammeth M, Friedländer MR, Transcriptome and genome sequencing uncovers functional variation in humans. Nature. 2013; 501: 506-11.
    • (2013) Nature , vol.501 , pp. 506-511
    • Lappalainen, T.1    Sammeth, M.2    Friedländer, M.R.3
  • 36
    • 34447097837 scopus 로고    scopus 로고
    • The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease
    • Lucia A, Gómez-Gallego F, Santiago C, The 577X allele of the ACTN3 gene is associated with improved exercise capacity in women with McArdle's disease. Neuromuscul Disord. 2007; 17 (8): 603-10.
    • (2007) Neuromuscul Disord , vol.17 , Issue.8 , pp. 603-610
    • Lucia, A.1    Gómez-Gallego, F.2    Santiago, C.3
  • 37
    • 84872844027 scopus 로고    scopus 로고
    • The association of sport performance with ACE and ACTN3 genetic polymorphisms: A systematic review and meta-analysis
    • Ma F, Yang Y, Li X, The association of sport performance with ACE and ACTN3 genetic polymorphisms: a systematic review and meta-analysis. PLoS One. 2013; 8 (1): e54685.
    • (2013) PLoS One , vol.8 , Issue.1 , pp. e54685
    • Ma, F.1    Yang, Y.2    Li, X.3
  • 38
    • 34748849262 scopus 로고    scopus 로고
    • Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
    • MacArthur DG, Seto JT, Raftery JM, Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans. Nat Genet. 2007; 39 (10): 1261-5.
    • (2007) Nat Genet , vol.39 , Issue.10 , pp. 1261-1265
    • MacArthur, D.G.1    Seto, J.T.2    Raftery, J.M.3
  • 39
    • 84892941646 scopus 로고    scopus 로고
    • ACTN3 R577X Genotype is Associated with Sprinting in Elite Japanese Athletes
    • Mikami E, Fuku N, Murakami H, ACTN3 R577X Genotype is Associated with Sprinting in Elite Japanese Athletes. Int J Sports Med. 2014; 35: 172-7.
    • (2014) Int J Sports Med , vol.35 , pp. 172-177
    • Mikami, E.1    Fuku, N.2    Murakami, H.3
  • 40
    • 0035875090 scopus 로고    scopus 로고
    • Differential expression of the actin-binding proteins, alpha-actinin-2 and-3, in different species: Implications for the evolution of functional redundancy
    • Mills M, Yang N, Weinberger R, Differential expression of the actin-binding proteins, alpha-actinin-2 and-3, in different species: implications for the evolution of functional redundancy. Hum Mol Genet. 2001; 10 (13): 1335-46.
    • (2001) Hum Mol Genet , vol.10 , Issue.13 , pp. 1335-1346
    • Mills, M.1    Yang, N.2    Weinberger, R.3
  • 41
    • 29244445375 scopus 로고    scopus 로고
    • The choice of a genetic model in the meta-analysis of molecular association studies
    • Minelli C, Thompson JR, Abrams KR, Thakkinstian A, Attia J,. The choice of a genetic model in the meta-analysis of molecular association studies. Int J Epidemiol. 2005; 34 (6): 1319-28.
    • (2005) Int J Epidemiol , vol.34 , Issue.6 , pp. 1319-1328
    • Minelli, C.1    Thompson, J.R.2    Abrams, K.R.3    Thakkinstian, A.4    Attia, J.5
  • 42
    • 33845524821 scopus 로고    scopus 로고
    • Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks
    • Moran CN, Yang N, Bailey ME, Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks. Eur J Hum Genet. 2007; 15 (1): 88-93.
    • (2007) Eur J Hum Genet , vol.15 , Issue.1 , pp. 88-93
    • Moran, C.N.1    Yang, N.2    Bailey, M.E.3
  • 44
    • 64349112961 scopus 로고    scopus 로고
    • Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes
    • Norman B, Esbjörnsson M, Rundqvist H, Osterlund T, von Walden F, Tesch PA,. Strength, power, fiber types, and mRNA expression in trained men and women with different ACTN3 R577X genotypes. J Appl Physiol (1985). 2009; 106 (3): 959-65.
    • (2009) J Appl Physiol (1985) , vol.106 , Issue.3 , pp. 959-965
    • Norman, B.1    Esbjörnsson, M.2    Rundqvist, H.3    Osterlund, T.4    Von Walden, F.5    Tesch, P.A.6
  • 45
    • 0032948848 scopus 로고    scopus 로고
    • A common nonsense mutation results in alpha-actinin-3 deficiency in the general population
    • North KN, Yang N, Wattanasirichaigoon D, Mills M, Easteal S, Beggs AH,. A common nonsense mutation results in alpha-actinin-3 deficiency in the general population. Nat Genet. 1999; 21 (4): 353-4.
    • (1999) Nat Genet , vol.21 , Issue.4 , pp. 353-354
    • North, K.N.1    Yang, N.2    Wattanasirichaigoon, D.3    Mills, M.4    Easteal, S.5    Beggs, A.H.6
  • 46
    • 84923697607 scopus 로고    scopus 로고
    • Relationship between ACTN3 R577X polymorphism and maximal power output in elite Polish athletes
    • Orysiak J, Busko K, Michalski R, Relationship between ACTN3 R577X polymorphism and maximal power output in elite Polish athletes. Medicina (Kaunas). 2014; 50 (5): 303-8.
    • (2014) Medicina (Kaunas) , vol.50 , Issue.5 , pp. 303-308
    • Orysiak, J.1    Busko, K.2    Michalski, R.3
  • 48
    • 78751634526 scopus 로고    scopus 로고
    • SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy
    • Pegoraro E, Hoffman EP, Piva L, Cooperative International Neuromuscular Research Group. SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy. Neurology. 2011; 76 (3): 219-26.
    • (2011) Neurology , vol.76 , Issue.3 , pp. 219-226
    • Pegoraro, E.1    Hoffman, E.P.2    Piva, L.3
  • 49
    • 84889030979 scopus 로고    scopus 로고
    • The influence of ACE ID and ACTN3 R577X polymorphisms on lower-extremity function in older women in response to high-speed power training
    • Pereira A, Costa AM, Leitão JC, The influence of ACE ID and ACTN3 R577X polymorphisms on lower-extremity function in older women in response to high-speed power training. BMC Geriatr. 2013; 13: 131.
    • (2013) BMC Geriatr , vol.13 , pp. 131
    • Pereira, A.1    Costa, A.M.2    Leitão, J.C.3
  • 50
    • 84861346905 scopus 로고    scopus 로고
    • The ACTN3 genotype in soccer players in response to acute eccentric training
    • Pimenta EM, Coelho DB, Cruz IR, The ACTN3 genotype in soccer players in response to acute eccentric training. Eur J Appl Physiol. 2012; 112 (4): 1495-503.
    • (2012) Eur J Appl Physiol , vol.112 , Issue.4 , pp. 1495-1503
    • Pimenta, E.M.1    Coelho, D.B.2    Cruz, I.R.3
  • 51
    • 84893368793 scopus 로고    scopus 로고
    • Effect of ACTN3 gene on strength and endurance in soccer players
    • Pimenta EM, Coelho DB, Veneroso CE, Effect of ACTN3 gene on strength and endurance in soccer players. J Strength Cond Res. 2013; 27 (12): 3286-92.
    • (2013) J Strength Cond Res , vol.27 , Issue.12 , pp. 3286-3292
    • Pimenta, E.M.1    Coelho, D.B.2    Veneroso, C.E.3
  • 52
    • 77952521051 scopus 로고    scopus 로고
    • Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle
    • Quinlan KG, Seto JT, Turner N, Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle. Hum Mol Genet. 2010; 19 (7): 1335-46.
    • (2010) Hum Mol Genet , vol.19 , Issue.7 , pp. 1335-1346
    • Quinlan, K.G.1    Seto, J.T.2    Turner, N.3
  • 53
    • 85006142174 scopus 로고    scopus 로고
    • Association of the ACTN3 R577X polymorphism with glucose tolerance and gene expression of sarcomeric proteins in human skeletal muscle
    • Riedl I, Osler ME, Benziane B, Chibalin AV, Zierath JR,. Association of the ACTN3 R577X polymorphism with glucose tolerance and gene expression of sarcomeric proteins in human skeletal muscle. Physiol Rep. 2015; 3 (3).
    • (2015) Physiol Rep , vol.3 , Issue.3
    • Riedl, I.1    Osler, M.E.2    Benziane, B.3    Chibalin, A.V.4    Zierath, J.R.5
  • 54
    • 84885063954 scopus 로고    scopus 로고
    • ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling
    • Seto JT, Quinlan KG, Lek M, ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling. J Clin Invest. 2013; 123 (10): 4255-63.
    • (2013) J Clin Invest , vol.123 , Issue.10 , pp. 4255-4263
    • Seto, J.T.1    Quinlan, K.G.2    Lek, M.3
  • 55
    • 84936890781 scopus 로고    scopus 로고
    • The association between the ACTN3 R577X polymorphism and noncontact acute ankle sprains
    • Shang X, Li Z, Cao X, The association between the ACTN3 R577X polymorphism and noncontact acute ankle sprains. J Sports Sci. 2015; 33 (17): 1775-9.
    • (2015) J Sports Sci , vol.33 , Issue.17 , pp. 1775-1779
    • Shang, X.1    Li, Z.2    Cao, X.3
  • 56
    • 84856337543 scopus 로고    scopus 로고
    • ACTN3 R577X polymorphism and performance phenotypes in young Chinese male soldiers
    • Shang X, Zhang F, Zhang L, Huang C,. ACTN3 R577X polymorphism and performance phenotypes in young Chinese male soldiers. J Sports Sci. 2012; 30 (3): 255-60.
    • (2012) J Sports Sci , vol.30 , Issue.3 , pp. 255-260
    • Shang, X.1    Zhang, F.2    Zhang, L.3    Huang, C.4
  • 57
    • 37449007895 scopus 로고    scopus 로고
    • ACTN3 (R577X) genotype is associated with fiber type distribution
    • Vincent B, De Bock K, Ramaekers M, ACTN3 (R577X) genotype is associated with fiber type distribution. Physiol Genomics. 2007; 32 (1): 58-63.
    • (2007) Physiol Genomics , vol.32 , Issue.1 , pp. 58-63
    • Vincent, B.1    De Bock, K.2    Ramaekers, M.3
  • 59
    • 57349140006 scopus 로고    scopus 로고
    • ACTN3 genotype is associated with muscle phenotypes in women across the adult age span
    • Walsh S, Liu D, Metter EJ, Ferrucci L, Roth SM,. ACTN3 genotype is associated with muscle phenotypes in women across the adult age span. J Appl Physiol (1985). 2008; 105 (5): 1486-91.
    • (2008) J Appl Physiol (1985) , vol.105 , Issue.5 , pp. 1486-1491
    • Walsh, S.1    Liu, D.2    Metter, E.J.3    Ferrucci, L.4    Roth, S.M.5
  • 60
    • 72049130816 scopus 로고    scopus 로고
    • Alpha-actinin-3 and performance
    • Yang N, Garton F, North K,. alpha-actinin-3 and performance. Med Sport Sci. 2009; 54: 88-101.
    • (2009) Med Sport Sci , vol.54 , pp. 88-101
    • Yang, N.1    Garton, F.2    North, K.3
  • 61
    • 80052286980 scopus 로고    scopus 로고
    • α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse
    • Yang N, Schindeler A, McDonald MM, α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse. Bone. 2011; 49 (4): 790-8.
    • (2011) Bone , vol.49 , Issue.4 , pp. 790-798
    • Yang, N.1    Schindeler, A.2    McDonald, M.M.3
  • 62
    • 84926633233 scopus 로고    scopus 로고
    • Physical-capacity-related genetic polymorphisms in children with cystic fibrosis
    • Yvert T, Santiago C, Santana-Sosa E, Physical-capacity-related genetic polymorphisms in children with cystic fibrosis. Pediatr Exerc Sci. 2015; 27 (1): 102-12.
    • (2015) Pediatr Exerc Sci , vol.27 , Issue.1 , pp. 102-112
    • Yvert, T.1    Santiago, C.2    Santana-Sosa, E.3
  • 63
    • 84875001472 scopus 로고    scopus 로고
    • Age differences in the relation between ACTN3 R577X polymorphism and thigh-muscle cross-sectional area in women
    • Zempo H, Tanabe K, Murakami H, Iemitsu M, Maeda S, Kuno S,. Age differences in the relation between ACTN3 R577X polymorphism and thigh-muscle cross-sectional area in women. Genet Test Mol Biomarkers. 2011; 15 (9): 639-43.
    • (2011) Genet Test Mol Biomarkers , vol.15 , Issue.9 , pp. 639-643
    • Zempo, H.1    Tanabe, K.2    Murakami, H.3    Iemitsu, M.4    Maeda, S.5    Kuno, S.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.