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Seto JT
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Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
DG MacArthur, JT Seto, JM Raftery, KG Quinlan, GA Huttley, JW Hook, ...
Nature genetics 39 (10), 1261-1265, 2007
3892007
An Actn3 knockout mouse provides mechanistic insights into the association between α-actinin-3 deficiency and human athletic performance
DG MacArthur, JT Seto, S Chan, KGR Quinlan, JM Raftery, N Turner, ...
Human molecular genetics 17 (8), 1076-1086, 2008
3592008
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling
JT Seto, KGR Quinlan, M Lek, XF Zheng, F Garton, DG MacArthur, ...
The Journal of clinical investigation 123 (10), 4255-4263, 2013
1662013
Therapeutic approaches to muscular dystrophy
A Goyenvalle, JT Seto, KE Davies, J Chamberlain
Human molecular genetics 20 (R1), R69-R78, 2011
1392011
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling
JT Seto, M Lek, KGR Quinlan, PJ Houweling, XF Zheng, F Garton, ...
Human molecular genetics 20 (15), 2914-2927, 2011
1302011
Limb–girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis
HP Lo, ST Cooper, FJ Evesson, JT Seto, M Chiotis, V Tay, AG Compton, ...
Neuromuscular disorders 18 (1), 34-44, 2008
1202008
α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle
KGR Quinlan, JT Seto, N Turner, A Vandebrouck, M Floetenmeyer, ...
Human molecular genetics 19 (7), 1335-1346, 2010
1182010
A gene for speed: contractile properties of isolated whole EDL muscle from an α-actinin-3 knockout mouse
S Chan, JT Seto, DG MacArthur, N Yang, KN North, SI Head
American Journal of Physiology-Cell Physiology 295 (4), C897-C904, 2008
1172008
Progress and prospects of gene therapy clinical trials for the muscular dystrophies
NE Bengtsson, JT Seto, JK Hall, JS Chamberlain, GL Odom
Human molecular genetics 25 (R1), R9-R17, 2016
832016
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy
AG Compton, DE Albrecht, JT Seto, ST Cooper, B Ilkovski, KJ Jones, ...
The American Journal of Human Genetics 83 (6), 714-724, 2008
822008
Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease
PJ Houweling, ID Papadimitriou, JT Seto, LM Pérez, JD Coso, KN North, ...
Human mutation 39 (12), 1774-1787, 2018
732018
Sport and exercise genomics: the FIMS 2019 consensus statement update
K Tanisawa, G Wang, J Seto, I Verdouka, R Twycross-Lewis, ...
British journal of sports medicine 54 (16), 969-975, 2020
702020
The effect of α-actinin-3 deficiency on muscle aging
JT Seto, S Chan, N Turner, DG MacArthur, JM Raftery, YD Berman, ...
Experimental gerontology 46 (4), 292-302, 2011
642011
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse
N Yang, A Schindeler, MM McDonald, JT Seto, PJ Houweling, M Lek, ...
Bone 49 (4), 790-798, 2011
632011
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion
MW Hogarth, FC Garton, PJ Houweling, T Tukiainen, M Lek, ...
Human molecular genetics 25 (5), 866-877, 2016
582016
Animal models of muscular dystrophy
R Ng, GB Banks, JK Hall, LA Muir, JN Ramos, J Wicki, GL Odom, ...
Progress in molecular biology and translational science 105, 83-111, 2012
532012
Therapy of genetic disorders: novel therapies for Duchenne muscular dystrophy
JT Seto, NE Bengtsson, JS Chamberlain
Current pediatrics reports 2, 102-112, 2014
512014
NF1 is a critical regulator of muscle development and metabolism
K Sullivan, J El-Hoss, KGR Quinlan, N Deo, F Garton, JTC Seto, ...
Human molecular genetics 23 (5), 1250-1259, 2014
492014
Gene replacement therapies for duchenne muscular dystrophy using adeno-associated viral vectors
J T Seto, J N Ramos, L Muir, J S Chamberlain, G L Odom
Current gene therapy 12 (3), 139-151, 2012
452012
α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization
FC Garton, JT Seto, KGR Quinlan, N Yang, PJ Houweling, KN North
Human molecular genetics 23 (7), 1879-1893, 2014
412014
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