N. Yang

发表

ACTN3 genotype is associated with human elite athletic performance.

D. MacArthur, S. Easteal, A. Beggs, 2003, American journal of human genetics.

The ACTN3 R577X polymorphism in East and West African athletes.

D. MacArthur, R. Scott, K. North, 2007, Medicine and science in sports and exercise.

alpha-actinin-3 and performance.

K. North, N. Yang, F. Garton, 2009, Medicine and sport science.

Association between genetic variants and characteristic symptoms of type 2 diabetes: A matched case-control study

He Huang, N. Yang, Hao-ying Dou, 2017, Chinese Journal of Integrative Medicine.

Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.

D. MacArthur, M. Lek, K. Quinlan, 2010, Human molecular genetics.

Expression of aquaporin 1 in human cardiac and skeletal muscle.

K. North, E. Wintour, D. Winlaw, 2004, Journal of molecular and cellular cardiology.

Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers.

F. Pigozzi, K. North, S. Galloway, 2013, Medicine and science in sports and exercise.

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

D. MacArthur, M. Lek, K. Quinlan, 2013, The Journal of clinical investigation.

α-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilization.

K. Quinlan, P. Houweling, K. North, 2014, Human molecular genetics.

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

S. Easteal, A. Beggs, K. North, 1999, Nature genetics.

A mutation in alpha-tropomyosin(slow) affects muscle strength, maturation and hypertrophy in a mouse model for nemaline myopathy.

E. Hardeman, P. Gunning, K. North, 2001, Human molecular genetics.

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

D. MacArthur, E. Hardeman, P. Gunning, 2008, Human molecular genetics.

K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.

J. Trewhella, M. Kreissl, V. Lehtokari, 2013, Brain : a journal of neurology.

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

K. Flanigan, J. Dowling, B. Ilkovski, 2010, Neuromuscular Disorders.

Limb–girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

D. MacArthur, K. North, J. Seto, 2008, Neuromuscular Disorders.

Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency

K. North, D. Winlaw, A. Verkman, 2011, Molecular and Cellular Neuroscience.

Deficiency of the syntrophins and α-dystrobrevin in patients with inherited myopathy

K. North, M. F. Peters, A. Compton, 2003, Neuromuscular Disorders.

Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders

J. Gécz, M. Stratton, P. Tarpey, 2008, Neuromuscular Disorders.

muscleresistance exercise in human skeletal Temporal response of desmin and dystrophin proteins

D. MacArthur, M. Lek, M. Hauser, 2015 .

Dystrophinopathy carrier determination and detection of protein deficiencies in muscular dystrophy using lentiviral MyoD-forced myogenesis

E. Kizana, I. Alexander, K. North, 2007, Neuromuscular Disorders.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

E. Hardeman, P. Gunning, B. Ilkovski, 2001, American journal of human genetics.

Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.

E. Hardeman, P. Gunning, B. Ilkovski, 2001, American journal of human genetics.

Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.

E. Hardeman, P. Gunning, K. North, 2011, Brain : a journal of neurology.

Exploring the relationship between α-actinin-3 deficiency and obesity in mice and humans

D. MacArthur, M. Lek, K. Quinlan, 2017, International Journal of Obesity.

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

D. V. Vander Woude, S. Easteal, A. Beggs, 2001, Human molecular genetics.

Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins.

D. MacArthur, M. Lek, K. North, 2010, Molecular biology and evolution.

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

S. Easteal, A. Beggs, K. North, 1999, Nature Genetics.

The Syntrophin-Dystrobrevin Subcomplex in Human Neuromuscular Disorders

K. North, A. Compton, S. Cooper, 2005, Journal of neuropathology and experimental neurology.

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

D. MacArthur, E. Hardeman, P. Gunning, 2007, Nature Genetics.

The Effect of ACTN3 Gene Doping on Skeletal Muscle Performance.

Damjan Vukcevic, S. Leslie, M. Lek, 2018, American journal of human genetics.

Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion.

D. MacArthur, M. Lek, T. Tukiainen, 2016, Human molecular genetics.

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.

D. MacArthur, M. Lek, M. Hauser, 2011, Human molecular genetics.

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

D. MacArthur, A. Tsiokanos, A. Jamurtas, 2007, European Journal of Human Genetics.

A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse.

D. MacArthur, K. North, J. Seto, 2008, American journal of physiology. Cell physiology.

α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse.

D. MacArthur, M. Lek, J. Eisman, 2011, Bone.

Evidence Based Selection of Commonly Used RT-qPCR Reference Genes for the Analysis of Mouse Skeletal Muscle

K. Quinlan, K. North, N. Yang, 2014, PloS one.

ACTN3 and ACE genotypes in elite Jamaican and US sprinters.

R. Scott, K. North, Y. Pitsiladis, 2010, Medicine and science in sports and exercise.

The effect of α-actinin-3 deficiency on muscle aging

Daniel G. MacArthur, Kathryn N. North, Stephen Chan, 2011, Experimental Gerontology.

Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice

K. North, J. Seto, N. Yang, 2011, Muscle & nerve.

Validation of an automated computational method for skeletal muscle fibre morphometry analysis

Nan Yang, Fleur Garton, Jane T. Seto, 2010, Neuromuscular Disorders.

Deficiency of the syntrophins and alpha-dystrobrevin in patients with inherited myopathy.

K. North, M. F. Peters, A. Compton, 2003, Neuromuscular disorders : NMD.