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Peter J Houweling

Showing results (21-30 of 45) with videos related to

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Endocrinology|June 21, 2014
The vitamin D receptor (VDR) is expressed in skeletal muscle of male mice and modulates 25-hydroxyvitamin D (25OHD) uptake in myofibersChristian M Girgis, Nancy Mokbel, Kuan Minn Cha, et al.
Biochimica Et Biophysica Acta|June 16, 2015
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research NetworkDavid N Palmer, Nicole J Neverman, Jarol Z Chen, et al.
Neurobiology of Disease|November 9, 2007
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 3Tony Frugier, Nadia L Mitchell, Imke Tammen, et al.
Stem Cell Research|January 26, 2024
Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editingPeter J Houweling, Vanessa Crossman, Chrystal F Tiong, et al.
Journal of Cachexia, Sarcopenia and Muscle|June 22, 2019
Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle functionChristian M Girgis, Kuan Minn Cha, Benjamin So, et al.
Human Molecular Genetics|December 19, 2015
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionMarshall W Hogarth, Fleur C Garton, Peter J Houweling, et al.
Journal of the Neurological Sciences|July 30, 2025
Detailed immune cell profiling of paediatric patient with limb girdle muscular dystrophy R3Chantal A Coles, Sedi Jalali, Katy de Valle, et al.
Science Advances|July 3, 2021
<i>ACTN3</i> genotype influences skeletal muscle mass regulation and response to dexamethasoneJane T Seto, Kelly N Roeszler, Lyra R Meehan, et al.
Stem Cell Research|June 22, 2021
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patientPeter J Houweling, Chantal A Coles, Chrystal F Tiong, et al.
Stem Cell Research|June 21, 2022
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 geneIsabella S Suleski, Robert Smith, Christina Vo, et al.
Pageof 5

Showing results (21-30 of 45) with videos related to

Sort By:
Pageof 5
Endocrinology|June 21, 2014
The vitamin D receptor (VDR) is expressed in skeletal muscle of male mice and modulates 25-hydroxyvitamin D (25OHD) uptake in myofibersChristian M Girgis, Nancy Mokbel, Kuan Minn Cha, et al.
Biochimica Et Biophysica Acta|June 16, 2015
Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research NetworkDavid N Palmer, Nicole J Neverman, Jarol Z Chen, et al.
Neurobiology of Disease|November 9, 2007
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 3Tony Frugier, Nadia L Mitchell, Imke Tammen, et al.
Stem Cell Research|January 26, 2024
Generation of a human ACTA1-tdTomato reporter iPSC line using CRISPR/Cas9 editingPeter J Houweling, Vanessa Crossman, Chrystal F Tiong, et al.
Journal of Cachexia, Sarcopenia and Muscle|June 22, 2019
Mice with myocyte deletion of vitamin D receptor have sarcopenia and impaired muscle functionChristian M Girgis, Kuan Minn Cha, Benjamin So, et al.
Human Molecular Genetics|December 19, 2015
Analysis of the ACTN3 heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionMarshall W Hogarth, Fleur C Garton, Peter J Houweling, et al.
Journal of the Neurological Sciences|July 30, 2025
Detailed immune cell profiling of paediatric patient with limb girdle muscular dystrophy R3Chantal A Coles, Sedi Jalali, Katy de Valle, et al.
Science Advances|July 3, 2021
<i>ACTN3</i> genotype influences skeletal muscle mass regulation and response to dexamethasoneJane T Seto, Kelly N Roeszler, Lyra R Meehan, et al.
Stem Cell Research|June 22, 2021
Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patientPeter J Houweling, Chantal A Coles, Chrystal F Tiong, et al.
Stem Cell Research|June 21, 2022
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 geneIsabella S Suleski, Robert Smith, Christina Vo, et al.
Pageof 5