Browsing by Author Houweling, Peter

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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
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
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
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
2011Deficiency of a-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodelingGarton, Fleur; Lek, Monkol; North, Kathryn; Quinlan (nee Edwards), Kate; Seto, Jane; Garvey, Sean M.; Hauser, Michael; Head, S I; Houweling, Peter; Macarthur, Daniel G; Raftery, Joanna M; Yang, Nan; Zheng, Xi F.; Western Clinical School: Medicine (Westmead); 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 HealthDeficiency of a-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling, Human Molecular Genetics, vol.20, 15, 2011,pp 2914-2927
2014Evidence Based Selection of Commonly Used RT-qPCR Reference Genes for the Analysis of Mouse Skeletal MuscleGarces Suarez, Francia; Houweling, Peter; North, Kathryn; Quinlan (nee Edwards), Kate Gemma; Yang, Nan; Zheng, Xi; Raftery, Joanna M; Thomas, Kristen; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthEvidence Based Selection of Commonly Used RT-qPCR Reference Genes for the Analysis of Mouse Skeletal Muscle, PloS One, vol.9, 2, 2014,pp 1-11
2017Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophyHogarth, Marshall; North, Kathryn; Bello, Luca; Cooperative International Neuromuscular Research Group, (CINRG); Gordish-Dressman, H; Head, Stewart I; Hoffman, Eric P; Houweling, Peter; Pegoraro, E; Thomas, Kristen; Childrens Hospital Westmead: Medicine; Childrens Hospital Westmead: Paediatrics & Child HealthEvidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy, Nature Communications, vol.8, N/A, 2017,pp 1-13
2013Genes for elite power and sprint performance: ACTN3 leads the wayGarton, Fleur; Houweling, Peter; North, Kathryn; Bishop, David; Eynon, Nir; Hanson, Erik; Lucia, Alejandro; Western Clinical School: Medicine (Westmead); Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthGenes for elite power and sprint performance: ACTN3 leads the way, Sports Medicine, vol.43, 9, 2013,pp 803-817
2013Genes for elite power and sprint performance: ACTN3 leads the wayGarton, Fleur; Houweling, Peter; North, Kathryn; Bishop, David; Eynon, Nir; Hanson, Erik; Lucia, Alejandro; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthGenes for elite power and sprint performance: ACTN3 leads the way, Sports Medicine, vol.43, 9, 2013,pp 803-817
2004Genetic characterisation of two animal models for Neuronal Ceroid Lipofuscinoses (NCL): the Australian Merino sheep and Devon cattle.Cavanagh, Julie; Houweling, Peter; Palmer, David; Raadsma, Hermanus; Tammen, Imke; Vet Science Faculty; REPROGEN; Vet Science Faculty; REPROGEN; Vet Science FacultyGenetic characterisation of two animal models for Neuronal Ceroid Lipofuscinoses (NCL): the Australian Merino sheep and Devon cattle., N/A, vol.N/A,(),2004,pp 80-80
2016How does ?-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed'Lee, Fiona; Quinlan (nee Edwards), Kate Gemma; Houweling, Peter; North, Kathryn N.; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthHow does ?-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the 'gene for speed', BBA: Biochimica et Biophysica Acta - Molecular Cell Research, vol.1863, 4, 2016,pp 686-693
2017The influence of (alpha)-actinin-3 deficiency on bone remodelling markers in young menSperanza, Tara; Vicari, Daniele; Bishop, David; Byrnes, Elizabeth; Eynon, Nir; Houweling, Peter; Levinger, Itamar; Munson, F; Papadimitriou, I; Yan, Xu; School of Medical Sciences: Physiology; School of Medical Sciences: PhysiologyThe influence of (alpha)-actinin-3 deficiency on bone remodelling markers in young men, Bone, vol.98, N/A, 2017,pp 26-30
2014Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathyClarke, Nigel; Houweling, Peter; Quinlan (nee Edwards), Kate Gemma; Sandaradura, Sarah; Waddell, Leigh Brook; Yuen, Michaela; Ceyhan-Birsoy, Ozge; Dowling, James; et al, Various; Gokhin, David; Kostyukova, Alla; Lehtokari, Vilma-Lotta; Maluenda, Jérome; Moroz, Natalia; Ravenscroft, Gianina; Todd, Emily; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Paediatrics & Child HealthLeiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy, Journal of Clinical Investigation, vol.124, 11, 2014,pp 4693-4708
2006A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNAFrugier, Tony; Houweling, Peter; Raadsma, Hermanus; Tammen, Imke; Cavanagh, Julie A.L.; Cook, Roger; Kay, Graham; Mitchell, Nadia; Palmer, David N.; REPROGEN; REPROGEN; REPROGEN; Vet Science FacultyA missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA, Biochimica et Biophysica Acta (2005), vol.1762,(10),2006,pp 898-905
2006Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 geneCavanagh, Julie; Houweling, Peter; Raadsma, Hermanus; Tammen, Imke; Windsor, Peter; Frugier, Tony; Mitchell, Nadia; Palmer, David N.; Vet Science Faculty; REPROGEN; REPROGEN; Vet Science Faculty; Vet Science FacultyNeuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c.662dupG) in the bovine CLN5 gene, Biochimica et Biophysica Acta, vol.1762,(10),2006,pp 890-897
2008A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by nucleotide substitution at a consensus splice site (c. 571 + 1G >A) leading to excision of exon 3Houweling, Peter; Tammen, Imke; Arthur, Donald; Frugier, Tony; Jolly, R; Kay, Graham; Mitchell, Nadia; Palmer, David N.; van Diggelen, Otto; Children's Hospital Westmead: Paediatrics & Child Health; Vet Science FacultyA new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by nucleotide substitution at a consensus splice site (c. 571 + 1G >A) leading to excision of exon 3, Neurobiology of Disease, vol.29, N/A, 2008,pp 306-315
2009A New Strategy to Identify the Disease Causing Mutation for Neuronal Ceroid Lipofuscinosis in South Hampshire SheepCavanagh, Julie; Houweling, Peter; Mohd Ismail, Izmira; Tammen, Imke; Mitchell, Nadia L.; Palmer, David N.; Vet Science Faculty; REPROGEN; Vet Science Faculty; Vet Science FacultyA New Strategy to Identify the Disease Causing Mutation for Neuronal Ceroid Lipofuscinosis in South Hampshire Sheep, Association for the Advancement of Animal Breeding and Genetics Proceedings of the Eighteenth Conference Matching Genetics and the Environment a New Look at and Old Topic, vol.N/A, 2009, pp. 308-311
2010Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout miceNorth, Kathryn; Seto, Jane; Yang, Nan; Chan, Stephen; Head, Stewart I.; Houweling, Peter; Children's Hospital Westmead: Paediatrics & Child Health; Western Clinical School: Medicine (Westmead); Western Clinical School: Medicine (Westmead)Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice, Muscle & Nerve, vol.N/A, N/A,pp 1-12
2006Radiation hybrid mapping of three candidate genes for bovine neuronal ceroid lipofuscinosis: CLN3, CLN5 and CLN6Cavanagh, Julie; Houweling, Peter; Tammen, Imke; Vet Science Faculty; REPROGEN; Vet Science FacultyRadiation hybrid mapping of three candidate genes for bovine neuronal ceroid lipofuscinosis: CLN3, CLN5 and CLN6, Cytogenetic and Genome Research, vol.115,(1),2006,pp 5-6