Concepedia

Severe forms of Baraitser–Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations

Nataliya Di Donato, Andreas Rump, Rainer Koenig, Vazken M. Der Kaloustian, Fahed Halal, K. Sonntag, Crystal Krause, Karl Hackmann, Gabriele Hahn, Evelin Schröck,

European Journal of Human Genetics · 2013 · 90 citations · 10 references

DOI

Concepts

References

10

At least six different actins are expressed in a higher mammal: An analysis based on the amino acid sequence of the amino-terminal tryptic peptide

Joël Vandekerckhove, Klaus Weber · Journal of Molecular Biology · 1978 · 741 citations

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β-Actin specifically controls cell growth, migration, and the G-actin pool

Tina M. Bunnell, Brandon J. Burbach, Yoji Shimizu et al. · Molecular Biology of the Cell · 2011 · 327 citations

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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen et al. · Nature Genetics · 2012 · 306 citations · Full text

, , +9

Arginylation of ß-Actin Regulates Actin Cytoskeleton and Cell Motility

Marina V. Karakozova, Marina Kozak, Catherine C. L. Wong et al. · Science · 2006 · 276 citations

, , +15

β- and γ-cytoplasmic actins display distinct distribution and functional diversity

Vera B. Dugina, Ingrid Zwaenepoel, Giulio Gabbiani et al. · Journal of Cell Science · 2009 · 227 citations · Full text

, , +17