Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The single transmembrane domain (TMD) of the human thrombopoietin receptor (TpoR/MPL), encoded by exon 10 of the MPL gene, is a hotspot for somatic mutations associated with myeloproliferative neoplasms (MPNs).
|
31697803 |
2020 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Studies have shown that mutant calreticulin (CALR) constitutively activates the thrombopoietin (TPO) receptor MPL and thus plays a causal role in the development of myeloproliferative neoplasms (MPNs).
|
31462733 |
2020 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
The role of the thrombopoietin receptor MPL in myeloproliferative neoplasms: recent findings and potential therapeutic applications.
|
31092065 |
2019 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) share similar molecular characteristics in that they frequently harbor hotspot mutations in JAK2, CALR or MPL, leading to activated JAK/STAT signaling.
|
31071164 |
2019 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Myeloproliferative neoplasms (MPNs) are associated with somatic mutations of genes including JAK2, CALR, or MPL in hematopoietic stem cells.
|
31377025 |
2019 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
The introduction of next-generation sequencing has broadened the genetic landscape of myeloproliferative neoplasms (MPNs) beyond JAK2, MPL, and CALR.
|
30594750 |
2019 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Sequential genotyping for phenotype-driver mutations in JAK2 (exon 14), CALR (exon 9), and MPL (exon 10) is recommended in patients with myeloproliferative neoplasms.
|
31135094 |
2019 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Recent data demonstrated that the TPO receptor (MPL) is essential for the development of CALR mutant-driven Myeloproliferative Neoplasms (MPNs).
|
31332222 |
2019 |
Myeloproliferative disease
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Studies have previously shown that mutant calreticulin (CALR), found in a subset of patients with myeloproliferative neoplasms (MPNs), interacts with and subsequently promotes the activation of the thrombopoietin receptor (MPL).
|
29946189 |
2019 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Mutations in <i>CALR</i> observed in myeloproliferative neoplasms (MPN) were recently shown to be pathogenic via their interaction with MPL and the subsequent activation of the Janus Kinase - Signal Transducer and Activator of Transcription (JAK-STAT) pathway.
|
31810292 |
2019 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Two activating mutations of MPL in triple-negative myeloproliferative neoplasms.
|
31294534 |
2019 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Philadelphia negative myeloproliferative neoplasms (MPNs) are characterized by frequent mutations of driver genes including JAK2, CALR and MPL.
|
29306106 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Together, our findings provide additional insights into the mechanism of the pathogenic mutant CALR-MPL interaction in myeloproliferative neoplasms.
|
29288169 |
2018 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
Development of a Targeted Next-Generation Sequencing Assay to Detect Diagnostically Relevant Mutations of JAK2, CALR, and MPL in Myeloproliferative Neoplasms.
|
29323541 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We describe here such an association of CALR and MPL mutations in a patient harboring the second mutation in a subclone during the phenotypic evolution of the myeloproliferative neoplasms.
|
28556926 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
BCR/ABL1-negative myeloproliferative neoplasms (MPNs) are characterized by recurrent mutations in JAK2, CALR, and MPL, each of which has been reported to alter JAK/STAT signaling pathways.
|
27258562 |
2018 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
An inhibitor for the thrombopoietin receptor (TpoR) would be more specific for the treatment of myeloproliferative neoplasms (MPNs) due to constitutively active mutant TpoR compared to the current treatment approach of inhibiting Janus kinase 2 (JAK2).
|
29736709 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Somatic mutations in JAK2, MPL and CALR are recurrently identified in most of the cases with Philadelphia chromosome negative myeloproliferative neoplasms (MPNs).
|
28411309 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The discovery of the activating Janus kinase (JAK)2<sup>V617F</sup> mutation in 2005 in most patients with the classic Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) spurred intense interest in research into these disorders, culminating in the identification of activating mutations in MPL in 2006 and indels in the gene encoding calreticulin (CALR) in 2013, thus providing additional mechanistic explanations for the universal activation of JAK-signal transducer and activator of transcription (JAK-STAT) observed in these conditions, and the success of the JAK1/2 inhibitor ruxolitinib, which first received regulatory approval in 2011.
|
29277359 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The majority of patients with Philadelphia chromosome-negative myeloproliferative neoplasms (MPNs) harbor JAK2, CALR, or MPL mutations.
|
29464483 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
CALR, JAK2 and MPL mutation status in Argentinean patients with BCR-ABL1- negative myeloproliferative neoplasms.
|
28990497 |
2018 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
BEFREE |
JAK2, CALR, MPL and triple-negative mutational status has a direct impact on symptom severity and disease burden assessed by MPN10 score in myeloproliferative neoplasms (MPNs).
|
28828906 |
2018 |
Myeloproliferative disease
|
0.500 |
Biomarker
|
group |
CTD_human |
Polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF) are classical myeloproliferative neoplasms (MPN), characterized by specific somatic mutations in JAK2, CALR or MPL genes.
|
29047144 |
2018 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Myeloproliferative neoplasms (MPNs) often carry JAK2(V617F), MPL(W515L), or CALR(del52) mutations.
|
29042365 |
2017 |
Myeloproliferative disease
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The findings from this study support the possibility of coexisting mutations of the JAK2, CALR, and MPL genes in myeloproliferative neoplasms and suggest that CALR and MPL should be analyzed not only in JAK2-negative patients but also in low V617F mutation patients.
|
27855276 |
2017 |