Search Results - "Houweling, Peter J"

The Vitamin D Receptor (VDR) Is Expressed in Skeletal Muscle of Male Mice and Modulates 25-Hydroxyvitamin D (25OHD) Uptake in Myofibers by Girgis, Christian M, Mokbel, Nancy, Cha, Kuan Minn, Houweling, Peter J, Abboud, Myriam, Fraser, David R, Mason, Rebecca S, Clifton-Bligh, Roderick J, Gunton, Jenny E

“…Vitamin D deficiency is associated with a range of muscle disorders, including myalgia, muscle weakness, and falls. In humans, polymorphisms of the vitamin D…”
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Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle function by Girgis, Christian M., Cha, Kuan Minn, So, Benjamin, Tsang, Michael, Chen, Jennifer, Houweling, Peter J., Schindeler, Aaron, Stokes, Rebecca, Swarbrick, Michael M., Evesson, Frances J., Cooper, Sandra T., Gunton, Jenny E.

“…Background It has long been recognized that vitamin D deficiency is associated with muscle weakness and falls. Vitamin D receptor (VDR) is present at very low…”
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Evidence based selection of commonly used RT-qPCR reference genes for the analysis of mouse skeletal muscle by Thomas, Kristen C, Zheng, Xi Fiona, Garces Suarez, Francia, Raftery, Joanna M, Quinlan, Kate G R, Yang, Nan, North, Kathryn N, Houweling, Peter J

“…The ability to obtain accurate and reproducible data using quantitative real-time Polymerase Chain Reaction (RT-qPCR) is limited by the process of data…”
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Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3) by Knights, Alexander J., Vohralik, Emily J., Houweling, Peter J., Stout, Elizabeth S., Norton, Laura J., Alexopoulos, Stephanie J., Yik, Jinfen. J., Mat Jusoh, Hanapi, Olzomer, Ellen M., Bell-Anderson, Kim S., North, Kathryn N., Hoehn, Kyle L., Crossley, Merlin, Quinlan, Kate G. R.

“…The conversion of white adipocytes to thermogenic beige adipocytes represents a potential mechanism to treat obesity and related metabolic disorders. However,…”
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A phase 2 open-label study of the safety and efficacy of weekly dosing of ATL1102 in patients with non-ambulatory Duchenne muscular dystrophy and pharmacology in mdx mice by Woodcock, Ian R, Tachas, George, Desem, Nuket, Houweling, Peter J, Kean, Michael, Emmanuel, Jaiman, Kennedy, Rachel, Carroll, Kate, de Valle, Katy, Adams, Justine, Lamandé, Shireen R, Coles, Chantal, Tiong, Chrystal, Burton, Matthew, Villano, Daniella, Button, Peter, Hogrel, Jean-Yves, Catling-Seyffer, Sarah, Ryan, Monique M, Delatycki, Martin B, Yiu, Eppie M

“…ATL1102 is a 2'MOE gapmer antisense oligonucleotide to the CD49d alpha subunit of VLA-4, inhibiting expression of CD49d on lymphocytes, reducing survival,…”
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No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes by Papadimitriou, Ioannis D, Lockey, Sarah J, Voisin, Sarah, Herbert, Adam J, Garton, Fleur, Houweling, Peter J, Cieszczyk, Pawel, Maciejewska-Skrendo, Agnieszka, Sawczuk, Marek, Massidda, Myosotis, Calò, Carla Maria, Astratenkova, Irina V, Kouvatsi, Anastasia, Druzhevskaya, Anastasiya M, Jacques, Macsue, Ahmetov, Ildus I, Stebbings, Georgina K, Heffernan, Shane, Day, Stephen H, Erskine, Robert, Pedlar, Charles, Kipps, Courtney, North, Kathryn N, Williams, Alun G, Eynon, Nir

“…Studies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed…”
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Evaluating modified diets and dietary supplement therapies for reducing muscle lipid accumulation and improving muscle function in neurofibromatosis type 1 (NF1) by Vasiljevski, Emily R, Houweling, Peter J, Rupasinghe, Thusitha, Kaur, Tarneet, Summers, Matthew A, Roessner, Ute, Little, David G, Schindeler, Aaron

“…Neurofibromatosis type 1 (NF1) is a genetic disorder that affects a range of tissue systems, however the associated muscle weakness and fatigability can have a…”
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Lifespan Analysis of Dystrophic mdx Fast-Twitch Muscle Morphology and Its Impact on Contractile Function by Kiriaev, Leonit, Kueh, Sindy, Morley, John W, North, Kathryn N, Houweling, Peter J, Head, Stewart I

“…Duchenne muscular dystrophy is caused by the absence of the protein dystrophin from skeletal muscle and is characterized by progressive cycles of…”
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Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editing by Houweling, Peter J., Crossman, Vanessa, Tiong, Chrystal F., Coles, Chantal A., Taylor, Rhonda L., Clayton, Joshua S., Graham, Alison, Vlahos, Katerina, Howden, Sara E, North, Kathryn N.

“…We used gene editing to introduce DNA sequences encoding the tdTomato fluorescent protein into the α -skeletal actin 1 (ACTA1) locus to develop an…”
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Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution by Head, Stewart I, Chan, Stephen, Houweling, Peter J, Quinlan, Kate G R, Murphy, Robyn, Wagner, Sören, Friedrich, Oliver, North, Kathryn N

“…Over 1.5 billion people lack the skeletal muscle fast-twitch fibre protein α-actinin-3 due to homozygosity for a common null polymorphism (R577X) in the ACTN3…”
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Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene by Suleski, Isabella S., Smith, Robert, Vo, Christina, Scriba, Carolin K., Saker, Safaa, Larmonier, Thierry, Malfatti, Edoardo, Romero, Norma B., Houweling, Peter J., Nowak, Kristen J., Laing, Nigel G., Taylor, Rhonda L., Clayton, Joshua S.

“…Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline…”
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Absence of the Z-disc protein α-actinin-3 impairs the mechanical stability of Actn3KO mouse fast-twitch muscle fibres without altering their contractile properties or twitch kinetics by Haug, Michael, Reischl, Barbara, Nübler, Stefanie, Kiriaev, Leonit, Mázala, Davi A. G., Houweling, Peter J., North, Kathryn N., Friedrich, Oliver, Head, Stewart I.

“…Abstract Background A common polymorphism (R577X) in the ACTN3 gene results in the complete absence of the Z-disc protein α-actinin-3 from fast-twitch muscle…”
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Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene by Clayton, Joshua S., Suleski, Isabella, Vo, Christina, Smith, Robert, Scriba, Carolin K., Saker, Safaa, Larmonier, Thierry, Malfatti, Edoardo, Romero, Norma B., Houweling, Peter J., Nowak, Kristen J., Ravenscroft, Gianina, Laing, Nigel G., Taylor, Rhonda L.

“…Variants in the ACTA1 gene are a common cause of nemaline myopathy (NM); a muscle disease that typically presents at birth or early childhood with hypotonia…”
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A Spotlight on T Lymphocytes in Duchenne Muscular Dystrophy-Not Just a Muscle Defect by Coles, Chantal A, Woodcock, Ian, Pellicci, Daniel G, Houweling, Peter J

“…The lack of dystrophin in Duchenne muscular dystrophy (DMD) results in membrane fragility resulting in contraction-induced muscle damage and subsequent…”
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Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient by Houweling, Peter J., Coles, Chantal A., Tiong, Chrystal F., Nielsen, Bridget, Graham, Alison, McDonald, Penny, Suter, Annabelle, Piers, Adam T., Forbes, Robin, Ryan, Monique M., Howden, Sara E., Lamandé, Shireen R., North, Kathryn N.

“…To produce an in vitro model of nemaline myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous p.Gly148Asp…”
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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 to excision of exon 3 by Frugier, Tony, Mitchell, Nadia L, Tammen, Imke, Houweling, Peter J, Arthur, Donald G, Kay, Graham W, van Diggelen, Otto P, Jolly, Robert D, Palmer, David N

“…Abstract Batten disease (neuronal ceroid lipofuscinoses, NCLs) are a group of inherited childhood diseases that result in severe brain atrophy, blindness and…”
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Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice by Chan, Stephen, Seto, Jane T., Houweling, Peter J., Yang, Nan, North, Kathryn N., Head, Stewart I.

“…Absence of α‐actinin‐3, encoded by the ACTN3 “speed gene,” is associated with poorer sprinting performance in athletes and a slowing of relaxation in…”
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The antioxidants neopterin/7,8‐dihydroneopterin: Novel biomarker and muscle protectant in Duchenne muscular dystrophy by Houweling, Peter J.

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Vitamin D Receptor Ablation and Vitamin D Deficiency Result in Reduced Grip Strength, Altered Muscle Fibers, and Increased Myostatin in Mice by Girgis, Christian M., Cha, Kuan Minn, Houweling, Peter J., Rao, Renuka, Mokbel, Nancy, Lin, Mike, Clifton-Bligh, Roderick J., Gunton, Jenny E.

“…Vitamin D deficiency is associated with muscle weakness, pain, and atrophy. Serum vitamin D predicts muscle strength and age-related muscle changes. However,…”
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Genes for Elite Power and Sprint Performance: ACTN3 Leads the Way by Eynon, Nir, Hanson, Erik D., Lucia, Alejandro, Houweling, Peter J., Garton, Fleur, North, Kathryn N., Bishop, David J.

“…The ability of skeletal muscles to produce force at a high velocity, which is crucial for success in power and sprint performance, is strongly influenced by…”
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