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Peter J Houweling
Peter J Houweling
Geverifieerd e-mailadres voor mcri.edu.au
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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
2902013
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
2262014
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
1922016
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
1742014
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
1662013
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
1472016
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
1452016
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
1432015
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
1302011
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
982019
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
982019
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
952006
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
892016
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
882008
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
862018
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
842014
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
742018
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
692017
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
632011
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
612006
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Artikelen 1–20