AKT activation is a feature of CALR mutant myeloproliferative neoplasms
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DOI: 10.1038/s41375-018-0224-8
Abstract: Among the driver mutations in the MPNs, the mechanism by which CALR mutations activate JAK/STAT signaling is unique in that the novel C-terminus of CALR mutant proteins binds directly to MPL leading to constitutive activation… read more here.
Keywords: calr; akt activation; calr mutant;
High frequencies of circulating memory T cells specific for calreticulin exon 9 mutations in healthy individuals
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DOI: 10.1038/s41408-018-0166-4
Abstract: Mutations in exon 9 of the calreticulin gene (CALR) frequently occur in patients with chronic myeloproliferative neoplasms (MPN). Patients exhibit spontaneous cellular immune responses to epitopes derived from the mutant CALR C-terminus, and CALR-mutant-specific T… read more here.
Keywords: healthy individuals; memory cells; calr mutant; calr ... See more keywords
The different variant allele frequencies of type I/type II mutations and the distinct molecular landscapes in CALR-mutant essential thrombocythaemia and primary myelofibrosis
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DOI: 10.1080/16078454.2022.2107888
Abstract: ABSTRACT Objective Calreticulin (CALR) mutations have been identified as driver mutations in a quarter of patients with essential thrombocythaemia (ET) and primary myelofibrosis (PMF), which are subgroups of myeloproliferative neoplasms (MPNs). A 52-bp deletion (type… read more here.
Keywords: type type; overt pmf; myelofibrosis; calr mutant ... See more keywords
Whole-genome CRISPR screening identifies N-glycosylation as a genetic and therapeutic vulnerability in CALR-mutant MPNs
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DOI: 10.1182/blood.2022015629
Abstract: Calreticulin (CALR) mutations are important disease-initiating drivers of myeloproliferative neoplasms (MPNs) and cause hyperproliferation by binding to the thrombopoietin (TPO) receptor and inducing cytokine independent signaling. Jutzi and colleagues report on a CRISPR knockout screen… read more here.
Keywords: calr; genome crispr; glycosylation; calr mutant ... See more keywords
Effects of CALR-Mutant Type and Burden on the Phenotype of Myeloproliferative Neoplasms
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DOI: 10.3390/diagnostics12112570
Abstract: Somatic CALR mutations occur in approximately 70% of patients with JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF). We evaluated the effects of the CALR mutant type and burden on the phenotype of CALR-mutated… read more here.
Keywords: phenotype; mutant type; type like; calr mutant ... See more keywords