Keyword

ACTN3

Description: A human protein-coding gene that encodes alpha-actinin-3, a protein expressed primarily in fast-twitch skeletal muscle fibers.

Primary topic: Genetics and Physical Performance (75%)

Wikidata ID: wiki/Q17709323

OpenAlex ID: keywords/actn3

ACTN3 Genotype Is Associated with Human Elite Athletic Performance

2003 · Nan Yang, Daniel G. MacArthur, et al. · The American Journal of Human Genetics · 905

A common nonsense mutation results in α-actinin-3 deficiency in the general population

1999 · Kathryn N. North, Nan Yang, et al. · Nature Genetics · 441

Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy

2001 · M. Mills · Human Molecular Genetics · 395

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

2005 · Anna-Kaisa Niemi, Kari Majamaa · European Journal of Human Genetics · 355

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

2007 · Daniel G MacArthur, Jane T Seto, et al. · Nature Genetics · 331

ACTN3 (R577X) genotype is associated with fiber type distribution

2007 · Barbara Vincent, Katrien De Bock, et al. · Physiological Genomics · 327

Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11.

1992 · A.H. Beggs, T.J. Byers, et al. · Journal of Biological Chemistry · 322

ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women

2005 · Priscilla M. Clarkson, Joseph M. Devaney, et al. · Journal of Applied Physiology · 309

An Actn3 knockout mouse provides mechanistic insights into the association between -actinin-3 deficiency and human athletic performance

2008 · D. G. MacArthur, J. T. Seto, et al. · Human Molecular Genetics · 288

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

2022 · Zhe Wang, Andrew Emmerich, et al. · Nature Genetics · 232

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ACTN3 and MLCK genotype associations with exertional muscle damage

2005 · Priscilla M. Clarkson, Eric P. Hoffman, et al. · Journal of Applied Physiology · 217

Current Progress in Sports Genomics

2015 · Ildus I. Ahmetov, Olga N. Fedotovskaya · Advances in clinical chemistry · 215

Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way

2013 · Nir Eynon, Erik D. Hanson, et al. · Sports Medicine · 202

Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks

2006 · Colin N Moran, Nan Yang, et al. · European Journal of Human Genetics · 198

The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes

2007 · Stephen M Roth, Sean Walsh, et al. · European Journal of Human Genetics · 187

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ACTN3R577X Polymorphism and Israeli Top-level Athletes

2009 · N. Eynon, J. A. Duarte, et al. · International Journal of Sports Medicine · 182

ACTN3 and ACE Genotypes in Elite Jamaican and US Sprinters

2009 · ROBERT A. SCOTT, RACHAEL IRVING, et al. · Medicine & Science in Sports & Exercise · 158

ACTN3

2007 · Daniel G. MacArthur, Kathryn N. North · Exercise and Sport Sciences Reviews · 156

ACTN3: More than Just a Gene for Speed

2017 · Craig Pickering, John Kiely · Frontiers in Physiology · 151

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Genes and Athletic Performance: The 2023 Update

2023 · Ekaterina A. Semenova, Elliott C. R. Hall, et al. · Genes · 149

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ACTN3 genotype in professional soccer players

2007 · C Santiago, M González-Freire, et al. · British Journal of Sports Medicine · 132

The actinin family of actin cross-linking proteins – a genetic perspective

2015 · Anita C.H. Murphy, Paul W. Young · Cell & Bioscience · 129

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ACTN3 genotype is associated with muscle phenotypes in women across the adult age span

2008 · Sean Walsh, Dongmei Liu, et al. · Journal of Applied Physiology · 124

ACTN3 genotype, athletic status, and life course physical capability: meta‐analysis of the published literature and findings from nine studies

2011 · Tamuno Alfred, Yoav Ben‐Shlomo, et al. · Human Mutation · 120

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The ACTN3 R577X polymorphism in Russian endurance athletes

2008 · I I Ahmetov, A M Druzhevskaya, et al. · British Journal of Sports Medicine · 115

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Works count: 572

Citation count: 11,220