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N. Yang · SciRah

Researcher profile · Semantic Scholar

N. Yang

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N. Yang — researcher profile on SciRah

h-index: 31
Works: 47
Citations: 4,849

Most-cited papers

ACTN3 genotype is associated with human elite athletic performance.
N. Yang, D. MacArthur, J. Gulbin, A. Hahn +3 more
2003American Journal of Human Genetics894 citations Open access
Semantic Scholar
Differential expression of the actin-binding proteins, alpha-actinin-2 and -3, in different species: implications for the evolution of functional redundancy.
M. Mills, N. Yang, R. Weinberger, D. V. VanderWoude +3 more
2001Human Molecular Genetics432 citations Open access
Semantic Scholar
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans
D. MacArthur, J. Seto, Joanna M. Raftery, K. Quinlan +11 more
2007Nature Genetics332 citations
Semantic Scholar
An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance.
D. MacArthur, J. Seto, S. Chan, K. Quinlan +10 more
2008Human Molecular Genetics301 citations
Semantic Scholar
A common nonsense mutation results in α-actinin-3 deficiency in the general population
K. North, N. Yang, D. Wattanasirichaigoon, M. Mills +2 more
1999Nature Genetics289 citations
Semantic Scholar
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks
C. Moran, N. Yang, M. Bailey, A. Tsiokanos +5 more
2007European Journal of Human Genetics225 citations
Semantic Scholar
A common nonsense mutation results in alpha-actinin-3 deficiency in the general population.
K. North, N. Yang, D. Wattanasirichaigoon, M. Mills +2 more
1999Nature Genetics221 citations
Semantic Scholar
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
B. Ilkovski, S. Cooper, K. Nowak, M. Ryan +12 more
2001American Journal of Human Genetics160 citations Open access
Semantic Scholar
The ACTN3 R577X polymorphism in East and West African athletes.
N. Yang, D. MacArthur, B. Wolde, V. Onywera +6 more
2007Medicine & Science in Sports & Exercise148 citations Open access
Semantic Scholar
ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.
J. Seto, K. Quinlan, Monkol Lek, X. Zheng +9 more
2013Journal of Clinical Investigation143 citations Open access
Semantic Scholar
ACTN3 and ACE genotypes in elite Jamaican and US sprinters.
R. Scott, R. Irving, Laura Irwin, E. Y. St. A. Morrison +9 more
2010Medicine & Science in Sports & Exercise139 citations Open access
Semantic Scholar
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
Harriet P. Lo, S. Cooper, F. Evesson, J. Seto +9 more
2008Neuromuscular Disorders139 citations
Semantic Scholar
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
J. Seto, Monkol Lek, K. Quinlan, P. Houweling +9 more
2011Human Molecular Genetics112 citations Open access
Semantic Scholar
Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy.
R. Susman, S. Quijano-Roy, N. Yang, R. Webster +19 more
2010Neuromuscular Disorders104 citations
Semantic Scholar
Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers.
Guan Wang, E. Mikami, Li-Ling Chiu, Alessandra de Perini +22 more
2013Medicine & Science in Sports & Exercise100 citations Open access
Semantic Scholar
A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.
M. Corbett, C. S. Robinson, G. Dunglison, N. Yang +6 more
2001Human Molecular Genetics95 citations
Semantic Scholar
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
K. Quinlan, J. Seto, N. Turner, A. Vandebrouck +8 more
2010Human Molecular Genetics94 citations Open access
Semantic Scholar
A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse.
S. Chan, J. Seto, D. MacArthur, N. Yang +2 more
2008American Journal of Physiology - Cell Physiology92 citations
Semantic Scholar
alpha-actinin-3 and performance.
N. Yang, F. Garton, K. North
2009Medicine and Sport Science78 citations
Semantic Scholar
Evidence Based Selection of Commonly Used RT-qPCR Reference Genes for the Analysis of Mouse Skeletal Muscle
Kristen C. Thomas, X. Zheng, Francia Garces Suarez, Joanna M. Raftery +4 more
2014PLoS ONE70 citations Open access
Semantic Scholar
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
Mai-Anh T Nguyen, J. Joya, A. Kee, Ana Domazetovska +10 more
2011Brain : a journal of neurology66 citations Open access
Semantic Scholar
Expression of aquaporin 1 in human cardiac and skeletal muscle.
Carol G. Au, S. Cooper, Harriet P. Lo, A. Compton +4 more
2004Journal of Molecular and Cellular Cardiology64 citations
Semantic Scholar
The effect of α-actinin-3 deficiency on muscle aging.
J. Seto, S. Chan, N. Turner, D. MacArthur +7 more
2011Experimental Gerontology59 citations
Semantic Scholar
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Nancy Mokbel, B. Ilkovski, M. Kreissl, M. Memo +22 more
2013Brain : a journal of neurology57 citations Open access
Semantic Scholar
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.
M. Hogarth, F. Garton, P. Houweling, T. Tukiainen +7 more
2016Human Molecular Genetics53 citations Open access
Semantic Scholar
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse.
N. Yang, A. Schindeler, M. McDonald, J. Seto +17 more
2011Bone48 citations
Semantic Scholar
α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization.
F. Garton, J. Seto, K. G. R. Quinlan, N. Yang +2 more
2014Human Molecular Genetics41 citations
Semantic Scholar
The Syntrophin-Dystrobrevin Subcomplex in Human Neuromuscular Disorders
A. Compton, S. Cooper, P. Hill, N. Yang +2 more
2005Journal of Neuropathology and Experimental Neurology38 citations Open access
Semantic Scholar
Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency.
Dongwei Wang, M. Nykanen, N. Yang, D. Winlaw +3 more
2011Molecular and cellular neurosciences35 citations
Semantic Scholar
Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis.
S. Cooper, E. Kizana, Jonathon D. Yates, Harriet P. Lo +4 more
2007Neuromuscular Disorders31 citations
Semantic Scholar
Deficiency of the syntrophins and α-dystrobrevin in patients with inherited myopathy
K. J. Jones, A. Compton, N. Yang, M. Mills +5 more
200331 citations
Semantic Scholar
The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.
F. Garton, P. Houweling, Damjan Vukcevic, Lyra R. Meehan +12 more
2018American Journal of Human Genetics30 citations Open access
Semantic Scholar
Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice
S. Chan, J. Seto, P. Houweling, N. Yang +2 more
2011Muscle and Nerve28 citations
Semantic Scholar
Validation of an automated computational method for skeletal muscle fibre morphometry analysis.
F. Garton, J. Seto, K. North, N. Yang
2010Neuromuscular Disorders28 citations
Semantic Scholar
Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins.
Monkol Lek, D. MacArthur, N. Yang, K. North
2010Molecular biology and evolution23 citations Open access
Semantic Scholar
Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans
PJ Houweling, YD Berman, N. Turner, Kgr Quinlan +6 more
2017International Journal of Obesity15 citations Open access
Semantic Scholar
Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.
K. J. Jones, A. Compton, N. Yang, M. Mills +5 more
2003Neuromuscular Disorders15 citations
Semantic Scholar
Association between genetic variants and characteristic symptoms of type 2 diabetes: A matched case-control study
Hao-ying Dou, Yuan-Yuan Wang, N. Yang, Ming-Li Heng +6 more
2017Chinese Journal of Integrative Medicine14 citations
Semantic Scholar
Actn3 Genotype Is Not Associated With Elite Endurance Athlete Status In Ethiopians And Kenyans: 2469 3:30 PM - 3:45 PM
N. Yang, D. MacArthur, B. Wolde, V. Onywera +5 more
20059 citations Open access
Semantic Scholar
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders
Rachel A. Peat, J. Gécz, J. Fallon, P. Tarpey +6 more
2008Neuromuscular Disorders4 citations Open access
Semantic Scholar
ACTN3 Genotypes and Obesity-, Power- and Endurance-Related Phenotypes in Adolescent Greeks: 782
C. Moran, N. Yang, D. MacArthur, C. Vassilopoulos +6 more
20062 citations Open access
Semantic Scholar
A gene for speed: the ACTN3 R577X polymorphism influences muscle performance
D. MacArthur, N. Yang, J. Seto, Joanna M. Raftery +4 more
20062 citations
Semantic Scholar
G.O.4 α-Actinin-3 regulates muscle glycogen phosphorylase: A potential mechanism for the metabolic consequences of the common human null allele of ACTN3
K. G. R. Quinlan, J. Seto, Nigel Turner, Matthias Floetenmeyer +6 more
20091 citations
Semantic Scholar
Unravelling the thin filament: mechanisms of weakness in inherited muscle disease
S. Cooper, Ana Domazetovska, P. Gunning, E. Hardeman +7 more
20061 citations
Semantic Scholar
muscleresistance exercise in human skeletal Temporal response of desmin and dystrophin proteins
A. Parcell, M. Woolstenhulme, R. Conlee, M. Drummond +17 more
20150 citations
Semantic Scholar
G.O.3 Mutations in contactin-1, a neuronal cell adhesion molecule expressed at the neuromuscular junction, cause a novel form of congenital lethal myopathy
A. Compton, D. Albrecht, Sandra T. Cooper, David Mowat +7 more
20080 citations
Semantic Scholar
An α-actinin-3 Knockout Mouse Suffers Increased Sarcomeric Damage from Eccentric Exercise: 1111
N. Yang, D. MacArthur, A. Kee, E. Kettle +5 more
20060 citations Open access
Semantic Scholar

Frequent co-authors

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K. North×40
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K. North — researcher profile on SciRah
D. MacArthur×19
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D. MacArthur — researcher profile on SciRah
J. Seto×18
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J. Seto — researcher profile on SciRah
Joanna M. Raftery×10
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Joanna M. Raftery — researcher profile on SciRah

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K. Quinlan — researcher profile on SciRah

P. Houweling×9

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P. Houweling — researcher profile on SciRah

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E. Hardeman — researcher profile on SciRah

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P. Gunning — researcher profile on SciRah

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S. Head — researcher profile on SciRah

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Monkol Lek — researcher profile on SciRah

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F. Garton — researcher profile on SciRah

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Y. Pitsiladis — researcher profile on SciRah