Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

Human actin-related protein 2/3 complex (Arp2/3), required for actin filament branching, has two ARPC1 component isoforms, with ARPC1B prominently expressed in blood cells. Here we show in a child with microthrombocytopenia, eosinophilia and inflammatory disease, a homozygous frameshift mutation in...

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Gepubliceerd in:Nat Commun
Hoofdauteurs: Kahr, Walter H. A., Pluthero, Fred G., Elkadri, Abdul, Warner, Neil, Drobac, Marko, Chen, Chang Hua, Lo, Richard W., Li, Ling, Li, Ren, Li, Qi, Thoeni, Cornelia, Pan, Jie, Leung, Gabriella, Lara-Corrales, Irene, Murchie, Ryan, Cutz, Ernest, Laxer, Ronald M., Upton, Julia, Roifman, Chaim M., Yeung, Rae S. M., Brumell, John H, Muise, Aleixo M
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2017
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5382316/
https://ncbi.nlm.nih.gov/pubmed/28368018
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ncomms14816
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