Showing results (31-40 of 45) with videos related to

Sort By:
Pageof 5
Stem Cell Research|June 21, 2022
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 geneJoshua S Clayton, Isabella Suleski, Christina Vo, et al.
American Journal of Human Genetics|February 18, 2021
Loss of α-actinin-3 during human evolution provides superior cold resilience and muscle heat generationVictoria L Wyckelsma, Tomas Venckunas, Peter J Houweling, et al.
The Journal of Clinical Investigation|October 5, 2013
ACTN3 genotype influences muscle performance through the regulation of calcineurin signalingJane T Seto, Kate G R Quinlan, Monkol Lek, et al.
Stem Cell Research|February 15, 2025
Generation of an iPSC line (with isogenic control) from the PBMCs of a COL6A1 (c.1056 + 2T > A) Bethlem myopathy patientVanessa G Crossman, Chrystal F Tiong, Chantal A Coles, et al.
Human Molecular Genetics|May 4, 2011
Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodelingJane T Seto, Monkol Lek, Kate G R Quinlan, et al.
Nature Communications|June 12, 2020
Eosinophil function in adipose tissue is regulated by Krüppel-like factor 3 (KLF3)Alexander J Knights, Emily J Vohralik, Peter J Houweling, et al.
American Journal of Human Genetics|May 1, 2018
The Effect of ACTN3 Gene Doping on Skeletal Muscle PerformanceFleur C Garton, Peter J Houweling, Damjan Vukcevic, et al.
NPJ Regenerative Medicine|January 6, 2026
Intrinsic muscle stem cell dysfunction underlies functional deficits in models of type 1 diabetesJin D Chung, Jennifer Trieu, Benjamin L Parker, et al.
Science Advances|August 27, 2025
<i>ACTN3</i> genotype influences androgen response in developing murine skeletal muscleKelly N Roeszler, Michael See, Lyra R Meehan, et al.
Plos One|January 25, 2024
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 miceIan R Woodcock, George Tachas, Nuket Desem, et al.
Pageof 5