|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
|
21659346 |
2011 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
|
19302922 |
2009 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
|
17666371 |
2007 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia.
|
10971406 |
2000 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.
|
16470591 |
2006 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics.
|
18240171 |
2008 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
|
28859041 |
2018 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia.
|
18422784 |
2008 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia.
|
11972523 |
2002 |
|
Thrombocythemia, Essential
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
|
19036112 |
2009 |
|
Thrombocythemia, Essential
|
0.500 |
SomaticCausalMutation
|
disease |
ORPHANET |
|
|
|
|
Thrombocythemia, Essential
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The MPL gene expression was detected in platelets and peripheral blood mononuclear cells from the majority of patients with MPD including chronic myelocytic leukemia (CML), polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF).
|
8589367 |
1995 |
|
Thrombocythemia, Essential
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
Diagnostic and prognostic value of bone marrow angiogenesis and megakaryocyte c-Mpl expression in essential thrombocythemia.
|
12010817 |
2002 |
|
Thrombocythemia, Essential
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Median mutation levels in pretreatment ET samples were significantly higher for MPL-mutated cases (60%) than for JAK2-mutated cases (24%; P=0.01), as was presentation with anemia.
|
20113830 |
2010 |
|
Thrombocythemia, Essential
|
0.500 |
AlteredExpression
|
disease |
LHGDN |
The expression pattern of c-mpl in megakaryocytes correlates with thrombotic risk in essential thrombocythemia.
|
12091373 |
2002 |
|
Thrombocythemia, Essential
|
0.500 |
PosttranslationalModification
|
disease |
BEFREE |
Eighty-one patients with PV and ET (53 adults and 28 children) were investigated for the methylation status of the SOCS-1, SOCS-2 and SOCS-3 CpG islands and for several myeloproliferative markers (including JAK2 and MPL mutations and clonality of hematopoiesis).
|
18623127 |
2008 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
The favorable impact of mutational status on thrombosis-free survival in ET might be most evident for JAK2, CALR, and MPL wild type patients, whereas the favorable effect from CALR mutations might be confined to young patients.
|
24889737 |
2015 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
The platelet thrombopoietin receptor number and function are markedly decreased in patients with essential thrombocythaemia.
|
11122159 |
2000 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
Normal thrombopoietin and its receptor (c-mpl) genes in children with essential thrombocythemia.
|
15390356 |
2005 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
In the current study of 183 consecutive patients with WHO-defined ET, the presence of grade 1 bone marrow (BM) fibrosis did not affect presenting clinical or laboratory features; in contrast, increased serum LDH at diagnosis was associated with leukocytosis (p = .002), thrombocytosis (p < .001), palpable splenomegaly (p = .03) and higher international prognostic score (IPSET) (p = .002); serum LDH did not correlate with BM fibrosis, JAK2/CALR/MPL or TET2/ASXL1 mutations.
|
28211153 |
2017 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
CALR mutations are identified in about 30% of JAK2/MPL-unmutated myeloproliferative neoplasms (MPNs) including essential thrombocythemia (ET) and primary myelofibrosis.
|
27716741 |
2016 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
A combination of qualitative and quantitative allele-specific polymerase chain reaction, fragment-sizing, high resolution melting and Sanger-sequencing was applied for the detection of three driver mutations (in Janus kinase 2, calreticulin and myeloproliferative leukemia virus oncogene genes) in 289 cases of essential thrombocythemia and 99 cases of primary myelofibrosis.
|
24895336 |
2014 |
|
Thrombocythemia, Essential
|
0.500 |
Biomarker
|
disease |
BEFREE |
Despite these important observations, important questions remain regarding the role of JAK2/MPL mutations in ET pathogenesis, the etiology of JAK2/MPL negative ET, the factors that distinguish ET from other MPNs with the JAK2V617F mutation, and the role of JAK2-targeted therapies for the treatment of these MPNs.
|
19074062 |
2008 |