Browsing by Author MacArthur, Daniel

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Issue DateTitleAuthor(s)Citation
2013ACTN3 genotype infuences muscle performance through the regulation of calcineurin signalingGarton, Fleur; Hogarth, Marshall; Houweling, Peter; Lek, Monkol; MacArthur, Daniel; North, Kathryn; Quinlan (nee Edwards), Kate Gemma; Seto, Jane Tin Chi; Yang, Nan; Zheng, Xi; Cooney, Gregory; Gregorevic, Paul; Turner, Nigel; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthACTN3 genotype infuences muscle performance through the regulation of calcineurin signaling, Journal of Clinical Investigation, vol.123, 10, 2013,pp 4255-4263
2003ACTN3 genotype is associated with human elite athletic performanceMacArthur, Daniel; North, Kathryn; Beggs, Alan H; Easteal, S; Gulbin, Jason P; Hahn, Allan G; Yang, Nan; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthACTN3 genotype is associated with human elite athletic performance, American Journal of Medical Genetics Part A, vol.73,(N/A),2003,pp 627-632
2008An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performanceGunning, Peter; MacArthur, Daniel; North, Kathryn; Quinlan, Kate; Seto, Jane; Chan, Stephen; Cooney, Gregory; Hardeman, Edna C; Head, Stewart I; Kee, Anthony J.; Nicholson, Megan D; Raftery, Joanna M; Turner, Nigel; Yang, Nan; Children's Hospital Westmead: Paediatrics & Child Health; Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAn Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance, Human Molecular Genetics, vol.17,(8),2008,pp 1076-1086
2007ACTN3: A genetic influence on muscle function and athletic performanceMacArthur, Daniel; North, Kathryn; Medicine; Children's Hospital Westmead: Paediatrics & Child HealthACTN3: A genetic influence on muscle function and athletic performance, Exercise and Sport Sciences Reviews, vol.35,(1),2007,pp 30-34
2014Allelic Expression of Deleterious Protein-Coding Variants across Human TissuesLek, Monkol; Knowles, David; Kukurba, Kimberly; Li, Jin Billy; Li, Xin; MacArthur, Daniel; Montgomery, Stephen B; Piskol, Robert; Smith, Kevin; Snyder, Michael; Tan, Meng How; Zhang, Rui; Childrens Hospital Westmead: Paediatrics & Child HealthAllelic Expression of Deleterious Protein-Coding Variants across Human Tissues, PLoS Genetics, vol.10, 5, 2014,pp 1-9
2016Analysis of the ACTN3 heterozygous genotype suggests that (aplha)-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionGarton, Fleur; Hogarth, Marshall; Houweling, Peter; North, Kathryn; Quinlan (nee Edwards), Kate Gemma; Head, Stewart I; Lek, Monkol; MacArthur, Daniel; Seto, Jane T; Tukiainen, Taru; Yang, Nan; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthAnalysis of the ACTN3 heterozygous genotype suggests that (aplha)-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion, Human Molecular Genetics, vol.25, 5, 2016,pp 866-877
2016Analysis of the ACTN3 heterozygous genotype suggests that (aplha)-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionGarton, Fleur; Hogarth, Marshall; Houweling, Peter; North, Kathryn; Quinlan (nee Edwards), Kate Gemma; Head, Stewart I; Lek, Monkol; MacArthur, Daniel; Seto, Jane T; Tukiainen, Taru; Yang, Nan; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthAnalysis of the ACTN3 heterozygous genotype suggests that (aplha)-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashion, Human Molecular Genetics, vol.25, 5, 2016,pp 866-877
2007Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent GreeksMacArthur, Daniel; North, Kathryn; Yang, Nan; Bailey, Mark E; Jamurtas, Athanasios; Moran, Colin N; Pitsiladis, Yannis; Tsiokanos, Athanasios; Wilson, Richard; Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsAssociation analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks, European Journal of Human Genetics (2005), vol.15,(N/A),2007,pp 88-93
2014Biallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal DystrophyLek, Monkol; Arno, Gavin; Becker, Mirjana; Bhattacharya, Shomi; Chakarova, Christina; et al, Various; Lenassi, Eva; MacArthur, Daniel; Moore, Anthony T.; Murphy, Cian; Sergouniotis, Panagiotis; Childrens Hospital Westmead: Paediatrics & Child HealthBiallelic Variants in TTLL5, Encoding a Tubulin Glutamylase, Cause Retinal Dystrophy, American Journal of Human Genetics, vol.94, 5, 2014,pp 760-769
2017Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseasesBurns, Joshua; Cooper, Sandra; O'Grady, Gina Louise; Sandaradura, Sarah; Schofield, Deborah; Shrestha, Rupendra Narashingh; Alam, Khurshid; Clarke, Nigel; Davis, Mark; Douglas, Lyndal; Laing, Nigel G; MacArthur, Daniel; North, Kathryn N.; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Pharmacy; PharmacyCost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases, n p j Genomic Medicine, vol.2:4, N/A, 2017,pp N/A-N/A
2011The effect of α-actinin-3 deficiency on muscle agingBerman, Yemima; MacArthur, Daniel; North, Kathryn; Quinlan (nee Edwards), Kate; Seto, Jane; Yang, Nan; Chan, Stephen; Cooney, Gregory; Head, Stewart I.; Raftery, Joanna M; Turner, Nigel; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe effect of α-actinin-3 deficiency on muscle aging, Experimental Gerontology, vol.46, 4, 2011,pp 292-302
2015Expanding the phenotype of GMPPB mutationsClarke, Nigel; Corbett, Alastair; Ghaoui, Roula; Lek, Monkol; Reddel, Stephen; Sue, Carolyn; Waddell, Leigh Brook; Cabrera-Serrano, Macarena; Davis, Mark; Johnsen, Russell D; Kaur, Simranpreet; Laing, Nigel G; Lamont, Phillipa J.; Liang, Christina; MacArthur, Daniel; North, Kathryn N; Ravenscroft, Gianina; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Concord Clinical School: ANZAC Research Institute; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthExpanding the phenotype of GMPPB mutations, Brain, vol.138, Pt 4, 2015,pp 836-844
2017Exploring the relationship between (alpha)-actinin-3 deficiency and obesity in mice and humansBerman, Yemima; Cooney, Gregory; Lek, Monkol; Houwelling, P; MacArthur, Daniel; North, Kathryn N.; Quinlan, Kate; Seto, Jane T; Turner, Nigel; Yang, Nan; Childrens Hospital Westmead: Paediatrics & Child Health; School of Medical Sciences: School of Medical Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthExploring the relationship between (alpha)-actinin-3 deficiency and obesity in mice and humans, International Journal of Obesity, vol.41, 7, 2017,pp 1154-1157
2008A gene for speed: contractile properties of isolated whole EDL muscle from an {alpha}-actinin-3 knockout mouseMacArthur, Daniel; North, Kathryn; Seto, Jane; Yang, Nan; Chan, S; Head, S I; Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsA gene for speed: contractile properties of isolated whole EDL muscle from an {alpha}-actinin-3 knockout mouse, American Journal of Physiology: Cell Physiology, vol.295,(4),2008,pp C897-C904
2006A gene for speed: the ACTN3 R577X polymorphism influences muscle performanceGunning, Peter; Hardeman, Edna; Kee, Anthony; MacArthur, Daniel; North, Kathryn; Raftery, Joanna; Seto, Jane; Yang, Nan; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Exercise & Sport Science; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsA gene for speed: the ACTN3 R577X polymorphism influences muscle performance, Neuromuscular Disorders, vol.16,(Supplement 1),2006,pp S59-S59
2004A Gene For Speed? The Evolution And Function Of Alpha-Actinin-3.MacArthur, Daniel; North, Kathryn; Medicine; Children's Hospital Westmead: Paediatrics & Child HealthA Gene For Speed? The Evolution And Function Of Alpha-Actinin-3., BioEssays: advances in molecular, cellular and developmental biology, vol.26,(7),2004,pp 786-795
2007Genes and human elite athletic performanceMacArthur, Daniel; North, Kathryn; Medicine; Children's Hospital Westmead: Paediatrics & Child HealthGenes and human elite athletic performance in East African running: towards a cross-disciplinary perspective, Routledge, 2007, pp. 217-233
2005Genes and human elite athletic performance.MacArthur, Daniel; North, Kathryn; Medicine; Children's Hospital Westmead: Paediatrics & Child HealthGenes and human elite athletic performance., Human Genetics, vol.116,(5),2005,pp 331-339
2012High altitude adaptation in Daghestani populations from the CaucasusMacArthur, Daniel; Ayub, Qasim; Baillie, J. Kenneth; Bulayeva, Kazima; Chen, Yuan; Kozarewa, Iwanka; Pagani, Luca; Tofanelli, Sergio; Turner, Daniel; Xue, Yali; Children's Hospital Westmead: Paediatrics & Child HealthHigh altitude adaptation in Daghestani populations from the Caucasus, Human Genetics, vol.131, 3, 2012,pp 423-433
2008Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesisCompton, A; Cooper, Sandra; Evesson, Frances Jane; Lo, Harriet; MacArthur, Daniel; North, Kathryn; Seto, Jane Tin Chi; Cairns, Anita; Chiotis, Maria; Corbett, Alastair; Reardon, Katrina; Tay, Valerie; Yang, Nan; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthLimb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis, Neuromuscular Disorders, vol.18, 1, 2008,pp 34-44