Chronic myeloproliferative disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
Based on these findings, we propose a model in which mutant CALR induces MPL activation on the cell surface to promote MPN development.
|
31462733 |
2020 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Collectively, cell-autonomous and constitutive activation of MPL is a cause of MPNs that are mediated by mutant CALR.
|
31848992 |
2020 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this Spotlight, we review the current understanding of the biology underpinning mutant CALR driven MPN, discuss clinical implications, and highlight future therapeutic approaches.
|
31562135 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report the case of a 65-year-old woman with MPN who had a CALR mutation and developed nephrotic syndrome.
|
31377025 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Since association with MPL is required for the oncogenicity of mutant CALR, we propose a model in which the constitutive activation of the MPL downstream pathway by mutant CALR multimers induces the development of MPN.
|
29946189 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we identified the first CALR gene mutational landscape in Moroccan patients with MPN nonmutated for the JAK2 gene.
|
28340692 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in exon 9 of the calreticulin gene (CALR) frequently occur in patients with chronic myeloproliferative neoplasms (MPN).
|
30655510 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
Unfolding the Role of Calreticulin in Myeloproliferative Neoplasm Pathogenesis.
|
30655313 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic frameshift mutations in the calreticulin (<i>CALR</i>) gene are key drivers of cellular transformation in myeloproliferative neoplasms (MPN).
|
31266769 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recent data demonstrated that the TPO receptor (MPL) is essential for the development of CALR mutant-driven Myeloproliferative Neoplasms (MPNs).
|
31332222 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Primary Myelofibrosis (PMF) is a myeloproliferative disorder associated with JAK2V617F, Calreticulin (CALR) indels, and MPLW515L/K mutations activating the tyrosine kinase JAK2 and its downstream signaling pathway.
|
31369569 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Retrospective analysis of MPN patients treated with peg-IFNa demonstrated that patients harboring the JAK2V617F mutation were more likely to achieve PMR than those with mutated CALR (p = 0.004), while there was no significant difference in hematological response.
|
30470838 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We propose that this ERAD network could be considered as a potential therapeutic target for selectively inhibiting CALR mutant-dependent proliferation associated with MPN, and therefore attenuate the associated pathogenic outcomes.
|
31810292 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our aim was to establish a rapid, low cost and sensitive assay for identification of CALR gene mutations and to validate the diagnostic performance of the established assay in a patient cohort with different clinical MPN phenotypes.
|
31248375 |
2019 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Erythroid staining for pSTAT5 was seen exclusively in "triple-negative (TN)" cases lacking JAK2 V617F, MPL, and CALR mutations (P=0.006, TN vs. other genotypes), and pSTAT5 staining in megakaryocyte nuclei was seen in 2 TN cases. pSTAT5 staining in TN MPN suggests that other unknown abnormalities in this pathway may contribute to the pathogenesis of these cases.
|
27258562 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We model calreticulin (CALR) mutations in murine interleukin-3 (mIL-3) dependent pro-B (Ba/F3) cells by delivery of single guide RNAs (sgRNAs) targeting the endogenous Calr locus in the specific region where insertion and/or deletion (indel) CALR mutations occur in patients with myeloproliferative neoplasms (MPN), a type of blood cancer.
|
29364275 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of JAK2V617F, JAK2 exon 12, MPL W515L/K and CALR were analysed in 439 Argentinean patients with BCR-ABL1-negative MPN, including 176 polycythemia vera (PV), 214 essential thrombocythemia (ET) and 49 primary myelofibrosis (PMF).
|
28990497 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
Biomarker
|
disease |
BEFREE |
Primary myelofibrosis (PMF) is a myeloproliferative neoplasm (MPN) characterized by stem cell-derived clonal myeloproliferation that is often but not always accompanied by JAK2, CALR, or MPL mutations; additional disease features include bone marrow stromal reaction including reticulin fibrosis, abnormal cytokine expression, anemia, hepatosplenomegaly, extramedullary hematopoiesis (EMH), constitutional symptoms, cachexia, leukemic progression, and shortened survival.
|
30039550 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings support the possibility of coexisting JAK2 V617F and CALR mutations and stress the importance of further molecular screening in MPN patients with low allele frequencies of JAK2 V617F.
|
30292681 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Calreticulin Mutations in Bulgarian MPN Patients.
|
28411309 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We initially focused on identifying HLA class I neoepitopes derived from calreticulin (CALR) exon 9 mutations, found in ~ 80% of JAK2wt myeloproliferative neoplasms (MPN).
|
30001747 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in either the januskinase-2 (JAK-2) or the calreticulin (CALR) gene are characteristic for MPN and may result in enhanced proliferation of red blood cells, white blood cells and platelets, and thus increase the risk for vascular events.
|
29492207 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Surprisingly, JAK2 46/1 haplotype was associated significantly not only with JAK2 V617F-mutated MPN, but also with CALR-mutated MPN (OR = 1.4; 95% CI = 1.1-1.8; P-value = .01).
|
29047144 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study explored the relationship between mutations in the Janus kinase 2 gene ( JAK2), MPL, and the calreticulin gene ( CALR) in Uygur and Han Chinese patients with BCR-ABL fusion gene-negative MPN and corresponding clinical features.
|
30084272 |
2018 |
Chronic myeloproliferative disorder
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings reveal what to our knowledge is a novel potential therapeutic approach for patients with CALR-mutant MPN.
|
30429377 |
2018 |