Article
Calreticulin del52 and ins5 knock-in mice recapitulate different myeloproliferative phenotypes observed in patients with MPN.
Nature communications - 28 Sept 2020
Benlabiod Camélia, Cacemiro Maira da Costa, Nédélec Audrey, Edmond Valérie, Muller Delphine, Rameau Philippe, Touchard Laure, Gonin Patrick, Constantinescu Stefan N, Raslova Hana, Villeval Jean-Luc, Vainchenker William, Plo Isabelle, Marty Caroline
Abstract excerpt
Somatic mutations in the calreticulin (CALR) gene are associated with approximately 30% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). CALR mutations, including the two most frequent 52 bp deletion (del52) and 5 bp insertion (ins5), induce a frameshift to the same alternative reading frame generating new C-terminal tails. In patients, del52 and ins5 induce two phenotypically distinct...
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