Associated Papers
Genetic modification of primary human B cells to model high-grade lymphoma.
Caeser R et al.
Nature Communications, 2019
31586074 (PubMed )
Supplement: 41467_2019_12494_MOESM6_ESM.xlsx › Merged_Variants_MUT_CAV
Myopathy-causing actin mutations promote defects in serum-response factor signalling.
Visegrády B et al.
The Biochemical Journal, 2010
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
Feng JJ et al.
Neuromuscular Disorders : Nmd, 2009
Functional effects of nemaline myopathy mutations on human skeletal alpha-actin.
Miller BM et al.
The Journal of Biological Chemistry, 2008
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Ilkovski B et al.
Human Molecular Genetics, 2004
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects.
Costa CF et al.
Journal of Cell Science, 2004
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).
Sparrow JC et al.
Neuromuscular Disorders : Nmd, 2003
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