Browsing by Author North, Kathryn

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Issue DateTitleAuthor(s)Citation
2006Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3.Cooper, Sandra; Lo, Harriet; North, Kathryn; Bushby, Kate; Hernandez-Deviez, Delia J.; Laval, Steven H.; Martin, Sally; Parton, Robert G.; Western Clinical School: Medicine (Westmead); Medicine; Children's Hospital Westmead: Paediatrics & Child HealthAberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3., Human Molecular Genetics, 2005, vol.15,(1),2006,pp 129-142
2004Actin Mutations Are One Cause Of Congenital Fibre Type Disproportion.Clarke, Nigel; North, Kathryn; Ouvrier, Robert; Dye, Danielle E; Hagiwara, Tohru; Kobayashi, Yasuaki; Laing, Nigel G; Liyanage, Khema; Nishino, Ichizo; Nonaka, Ikuya; Shimakawa, Shuichi; Sparrow, John C; Walker, Kendall R; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthActin Mutations Are One Cause Of Congenital Fibre Type Disproportion., Annals of Neurology, vol.56,(5),2004,pp 689-694
2013ACTN3 Allele Frequency in Humans Covaries with Global Latitudinal GradientLek, Monkol; North, Kathryn; Friedlander, Scott; Herrmann, Amanda; Lowry, Daniel; Mepham, Emily; Organ, Chris; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthACTN3 Allele Frequency in Humans Covaries with Global Latitudinal Gradient, PLoS One, vol.8, 1, 2013,pp 1-4
2010ACTN3 and ACE genotypes in elite Jamaican and US sprintersNorth, Kathryn; Austin, Krista; Charlton, Vilma; Deason, Michael; Headley, Samuel A.; IRVING, RACHAEL; Irwin, Laura; Kolkhorst, Fred W.; Morrison, Errol; Pitsiladis, Yannis; Scott, Robert; Tladi, Dawn; Yang, Nan; Children's Hospital Westmead: Paediatrics & Child HealthACTN3 and ACE genotypes in elite Jamaican and US sprinters, Medicine and Science in Sports and Exercise, vol.42, 1,pp 107-112
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
2007The ACTN3 R577X Polymorphism in East and West African AthletesNorth, Kathryn; Boit, Michael; Lau, SAU YIN MARY-ANN; Macarthur, Daniel G; Onywera, Vincent O; Pitsiladis, Yannis; Scott, Robert; Wilson, Richard; Wolde, Bezabhe; Yang, Nan; Children's Hospital Westmead: Paediatrics & Child HealthThe ACTN3 R577X Polymorphism in East and West African Athletes, Medicine and Science in Sports and Exercise, vol.39,(11),2007,pp 1985-1988
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
2006Age-related findings on MRI in neurofibromatosis type 1.Gill, D; Hyman, Shelley L; North, Kathryn; Steinberg, A; Central Clinical School: Medicine; Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Central Clinical School: MedicineAge-related findings on MRI in neurofibromatosis type 1., Pediatric radiology, vol.36,(10),2006,pp 1048-1056
2009alpha-actinin-3 and performanceGarton, Fleur; North, Kathryn; Yang, Nan; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Insalpha-actinin-3 and performance, Medicine and Sport Science, vol.54, N/A, 2009,pp 88-101
2014alpha-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilisationGarton, Fleur; Houweling, Peter; North, Kathryn; Quinlan (nee Edwards), Kate Gemma; Seto, Jane Tin Chi; Yang, Nan; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Healthalpha-Actinin-3 deficiency alters muscle adaptation in response to denervation and immobilisation, Human Molecular Genetics, vol.23, 7, 2014,pp 1879-1893
2010Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscleLek, Monkol; North, Kathryn; Quinlan, Kate; Seto, Jane; Yang, Nan; Cooney, Gregory; Floetenmeyer, Matthias; Macarthur, Daniel G; Parton, Robert G.; Raftery, Joanna M; Turner, Nigel; Vandebrouck, Aurelie; 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: Childrens Medical Research InsAlpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle, Human Molecular Genetics, vol.19, 7,pp 1335-1346
2005An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.Cooper, Sandra; Corbett, Mark; Domazetovska, A; Gunning, Peter; Hardeman, Edna; North, Kathryn; Akkari, Anthony; Laing, Nigel G.; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research Ins; Children's Hospital Westmead: Paediatrics & Child HealthAn alphaTropomyosin mutation alters dimer preference in nemaline myopathy., Annals of Neurology, vol.57,(1),2005,pp 42-49
2015Altered Ca2+ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human EvolutionQuinlan (nee Edwards), Kate Gemma; Chan, Stephen; Friedrich, Oliver; Head, Nicholas J; Houweling, Peter; Murphy, Robyn; North, Kathryn; Wagner, Soeren; Childrens Hospital Westmead: Paediatrics & Child HealthAltered Ca2+ Kinetics Associated with α-Actinin-3 Deficiency May Explain Positive Selection for ACTN3 Null Allele in Human Evolution, PLoS Genetics, vol.11, 1, 2015,pp 1-18
2011Altered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiencyNorth, Kathryn; Owler, Brian; Winlaw, David; Nykanen, Marko; Verkman, A S; Wang, Dongwei; Yang, Nan; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAltered cellular localization of aquaporin-1 in experimental hydrocephalus in mice and reduced ventriculomegaly in aquaporin-1 deficiency, Molecular and Cellular Neuroscience, vol.46, 4, 2011,pp 318-324
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
2014Approach to the diagnosis of congenital myopathiesClarke, Nigel; North, Kathryn; Amburgey, Kimberley; Beggs, Alan H; Bonnemann, Carsten; Dowling, James; Jungbluth, Heinz; Laing, Nigel G; Quijano-Roy, Susana; Sewry, C; Vainzof, Mariz; Wang, Ching; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthApproach to the diagnosis of congenital myopathies, Neuromuscular Disorders, vol.24, 2, 2014,pp 97-116
2010Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensorsLek, Monkol; North, Kathryn; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthAre biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors, FEBS Letters, vol.584, 14,pp 2974-2980