| Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way N Eynon, ED Hanson, A Lucia, PJ Houweling, F Garton, KN North, ... Sports medicine 43, 803-817, 2013 | 304 | 2013 |
| The vitamin D receptor (VDR) is expressed in skeletal muscle of male mice and modulates 25-hydroxyvitamin D (25OHD) uptake in myofibers CM Girgis, N Mokbel, KM Cha, PJ Houweling, M Abboud, DR Fraser, ... Endocrinology 155 (9), 3227-3237, 2014 | 232 | 2014 |
| ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study ID Papadimitriou, A Lucia, YP Pitsiladis, VP Pushkarev, DA Dyatlov, ... BMC genomics 17, 1-8, 2016 | 202 | 2016 |
| Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy M Yuen, SA Sandaradura, JJ Dowling, AS Kostyukova, N Moroz, ... The Journal of clinical investigation 124 (11), 4693-4708, 2014 | 183 | 2014 |
| ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling JT Seto, KGR Quinlan, M Lek, XF Zheng, F Garton, DG MacArthur, ... The Journal of clinical investigation 123 (10), 4255-4263, 2013 | 170 | 2013 |
| Athlome Project Consortium: a concerted effort to discover genomic and other “omic” markers of athletic performance YP Pitsiladis, M Tanaka, N Eynon, C Bouchard, KN North, AG Williams, ... Physiological genomics, 2016 | 157 | 2016 |
| Vitamin D receptor ablation and vitamin D deficiency result in reduced grip strength, altered muscle fibers, and increased myostatin in mice CM Girgis, KM Cha, PJ Houweling, R Rao, N Mokbel, M Lin, ... Calcified tissue international 97, 602-610, 2015 | 152 | 2015 |
| No evidence of a common DNA variant profile specific to world class endurance athletes T Rankinen, N Fuku, B Wolfarth, G Wang, MA Sarzynski, DG Alexeev, ... PloS one 11 (1), e0147330, 2016 | 146 | 2016 |
| Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling JT Seto, M Lek, KGR Quinlan, PJ Houweling, XF Zheng, F Garton, ... Human molecular genetics 20 (15), 2914-2927, 2011 | 139 | 2011 |
| More than a ‘speed gene’: ACTN3 R577X genotype, trainability, muscle damage, and the risk for injuries J Del Coso, D Hiam, P Houweling, LM Pérez, N Eynon, A Lucía European journal of applied physiology 119, 49-60, 2019 | 111 | 2019 |
| Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function CM Girgis, KM Cha, B So, M Tsang, J Chen, PJ Houweling, A Schindeler, ... Journal of cachexia, sarcopenia and muscle 10 (6), 1228-1240, 2019 | 108 | 2019 |
| How does α-actinin-3 deficiency alter muscle function? Mechanistic insights into ACTN3, the ‘gene for speed’ FXZ Lee, PJ Houweling, KN North, KGR Quinlan Biochimica et Biophysica Acta (BBA)-Molecular Cell Research 1863 (4), 686-693, 2016 | 98 | 2016 |
| A 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 I Tammen, PJ Houweling, T Frugier, NL Mitchell, GW Kay, JAL Cavanagh, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1762 (10 …, 2006 | 96 | 2006 |
| No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes ID Papadimitriou, SJ Lockey, S Voisin, AJ Herbert, F Garton, ... BMC genomics 19, 1-9, 2018 | 92 | 2018 |
| A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c. 571+ 1G>>> A) leading … T Frugier, NL Mitchell, I Tammen, PJ Houweling, DG Arthur, GW Kay, ... Neurobiology of disease 29 (2), 306-315, 2008 | 85 | 2008 |
| Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease PJ Houweling, ID Papadimitriou, JT Seto, LM Pérez, JD Coso, KN North, ... Human mutation 39 (12), 1774-1787, 2018 | 82 | 2018 |
| Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle KC Thomas, XF Zheng, F Garces Suarez, JM Raftery, KGR Quinlan, ... PloS one 9 (2), e88653, 2014 | 82 | 2014 |
| Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy MW Hogarth, PJ Houweling, KC Thomas, H Gordish-Dressman, L Bello, ... Nature communications 8 (1), 14143, 2017 | 73 | 2017 |
| α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse N Yang, A Schindeler, MM McDonald, JT Seto, PJ Houweling, M Lek, ... Bone 49 (4), 790-798, 2011 | 66 | 2011 |
| Neuronal ceroid lipofuscinosis in Devon cattle is caused by a single base duplication (c. 662dupG) in the bovine CLN5 gene PJ Houweling, JAL Cavanagh, DN Palmer, T Frugier, NL Mitchell, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1762 (10 …, 2006 | 62 | 2006 |
Seto JTMurdoch Childrens Research Institute, University of MelbourneE-mail megerősítve itt: mcri.edu.au
