Browsing by Author Lek, Monkol

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Issue DateTitleAuthor(s)Citation
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
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
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
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
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
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
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
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
2010The evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins.Lek, Monkol; North, Kathryn; Quinlan, Kate; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthThe evolution of skeletal muscle performance: gene duplication and divergence of human sarcomeric alpha-actinins., BioEssays: advances in molecular, cellular and developmental biology, vol.32, 1,pp 17-25
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
2017Improving genetic diagnosis in Mendelian disease with transcriptome sequencingBournazos, Adam; Clarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Lek, Monkol; Oates, Emily; O'Grady, Gina Louise; Sandaradura, Sarah; Waddell, Leigh Brook; Bolduc, Veronique; Cummings, Beryl; Donkervoort, Sandra; Estrella, Elicia; et al, Various; Foley, A Reghan; Marshall, J; North, Kathryn N.; Reddy, H; Tukiainen, Taru; Zhao, F; 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 Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthImproving genetic diagnosis in Mendelian disease with transcriptome sequencing, Science Translational Medicine, vol.9, 386, 2017,pp 1-11
2017A 'limb-girdle muscular dystrophy' responsive to asthma therapyClarke, Nigel; Cooper, Sandra; Ghaoui, Roula; Hutchinson, David; Lek, Monkol; MacArthur, D; Mulroy, Eoin; Rodrigues, Miriam; Roxburgh, Richard; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthA 'limb-girdle muscular dystrophy' responsive to asthma therapy, Practical Neurology, vol.17, 4, 2017,pp 327-331
2013Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic ParaplegiaClarke, Nigel; Menezes, Manoj; Oates, Emily; Auer-Grumbach, Michaela; Cottenie, Ellen; et al, Various; Foley, A Reghan; Gonzalez, Michael; Greensmith, Linda; Hafezparast, Majid; Houlden, Henry; Hurles, Matthew; Lek, Monkol; MacArthur, Daniel; Pieber, Thomas R; Rossor, Alexander; Scoto, Mariacristina; Speziani, Fiorella; Strom, Tim M; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia, American Journal of Human Genetics, vol.92, 6, 2013,pp 965-973
2016Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyClarke, Nigel; Davis, Ryan; Ghaoui, Roula; Kaur, Simranpreet; Sue, Carolyn; Waddell, Leigh Brook; Yiannikas, Konstantinos; Brewer, Janice M.; Evilä, Anni; Hackman, Peter; Huovinen, Sanna; Jonson, Per Harald; Lek, Monkol; Lindfors, Mikaela; MacArthur, Daniel; Needham, Merrilee; North, Kathryn N.; Palmio, J; Penttilä, Sini; Udd, Bjarne; Vihola, Anna K.; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Kolling Institute; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: Medicine; Childrens Hospital Westmead: Paediatrics & Child Health; Northern Clinical School: MedicineMutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy, Neurology, vol.86, 4, 2016,pp 391-398
2009Myoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1 aAlexander, Ian; Lek, Monkol; Little, David; Liu, Renjing; North, Kathryn; Schindeler, Aaron; Ginn, Samantha L; 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 HealthMyoblast sensitivity and fibroblast insensitivity to osteogenic conversion by BMP-2 correlates with the expression of Bmpr-1 a, BMC Musculoskeletal Disorders, vol.10,(N/A),2009,pp 51-1-51-12
2013Negligible impact of rare autoimmune-locus coding-region variants on missing heritabilityLek, Monkol; Ahmad, Tariq; Ban, Maria; Barker, Jonathan; Barrett, Jeffrey; Blackburn, Hannah; Bockett, Nicholas; Brand, Oliver; Burren, Oliver; Capon, Francesca; Compston, Alastair; et al, Various; Gough, Stephen; Hunt, Karen; Jostins, Luke; Kong, Yong; Lee, James; Mistry, Vanisha; Children's Hospital Westmead: Paediatrics & Child HealthNegligible impact of rare autoimmune-locus coding-region variants on missing heritability, Nature, vol.498, 7453, 2013,pp 232-235
2010Phylogenetic analysis of ferlin genes reveals ancient eukaryotic origins.Cooper, Sandra; Lek, Angela; Lek, Monkol; North, Kathryn; 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 HealthPhylogenetic analysis of ferlin genes reveals ancient eukaryotic origins., BMC Evolutionary Biology, vol.10, 231,pp 1-15
2010Phylogenetic analysis of gene structure and alternative splicing in {alpha}-actininsLek, Monkol; MacArthur, Daniel; North, Kathryn; Yang, Nan; 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 InsPhylogenetic analysis of gene structure and alternative splicing in {alpha}-actinins, Molecular Biology and Evolution, vol.27, 4,pp 773-780