Found: 13
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Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 15, p. 2914, doi. 10.1093/hmg/ddr196
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- Publication type:
- Article
Therapeutic approaches to muscular dystrophy.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. R1, p. R69, doi. 10.1093/hmg/ddr105
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- Publication type:
- Article
α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 7, p. 1335, doi. 10.1093/hmg/ddq010
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- Publication type:
- Article
An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 8, p. 1076, doi. 10.1093/hmg/ddm380
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- Publication type:
- Article
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
- Published in:
- Nature Genetics, 2007, v. 39, n. 10, p. 1261, doi. 10.1038/ng2122
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- Publication type:
- Article
An observational human study investigating the effect of anabolic androgenic steroid use on the transcriptome of skeletal muscle and whole blood using RNA-Seq.
- Published in:
- BMC Medical Genomics, 2023, v. 16, n. 1, p. 1, doi. 10.1186/s12920-023-01512-z
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- Publication type:
- Article
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.
- Published in:
- 2013
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- Publication type:
- journal article
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 10, p. 4255, doi. 10.1172/JCI67691
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- Publication type:
- Article
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1774, doi. 10.1002/humu.23663
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- Publication type:
- Article
Progress and prospects of gene therapy clinical trials for the muscular dystrophies.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. R1, p. R9, doi. 10.1093/hmg/ddv420
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- Publication type:
- Article
Analysis of the ACTN3 heterozygous genotype suggests that a-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 5, p. 866, doi. 10.1093/hmg/ddv613
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- Publication type:
- Article
Association Between Hematological Parameters and Iron Metabolism Response After Marathon Race and ACTN3 Genotype.
- Published in:
- Frontiers in Physiology, 2019, p. N.PAG, doi. 10.3389/fphys.2019.00697
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- Publication type:
- Article
Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 1, p. 37, doi. 10.1002/mus.21778
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- Publication type:
- Article