|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In addition to the clinical importance of recognizing this disorder, characterization of mutations identified in patients with CAMT has led to insights into thrombopoietin receptor structure and function.
|
21337678 |
2011 |
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The genetic background of CAMT is mutations in the MPL gene encoding the thrombopoietin receptor.
|
21162090 |
2011 |
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
|
21489838 |
2011 |
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
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 |
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
|
21489838 |
2011 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy.
|
19713221 |
2010 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT.
|
20062088 |
2010 |
|
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Induction of myeloproliferative disorder and myelofibrosis by thrombopoietin receptor W515 mutants is mediated by cytosolic tyrosine 112 of the receptor.
|
19996410 |
2010 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The ability to routinely assess both JAK2 and MPL mutations would be beneficial in the differential diagnosis of unexplained thrombocytosis or myelofibrosis.
|
20151976 |
2010 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).
|
20113333 |
2010 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515L or W515K), the receptor for thrombopoietin, have been reported in patients with primary essential thrombocythemia (ET) or primary myelofibrosis (PMF).
|
19274616 |
2010 |
|
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
BEFREE |
Codon 617 mutation of the JAK2 kinase is found in 40-50% of ET/PMF, whereas the mutation of codon 515 in the JAK2-linked thrombopoietin receptor MPL is found in approximately 20% of JAK2-unmutated cases of ET and PMF.
|
20113830 |
2010 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.
|
20151976 |
2010 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The entire study cohort was also screened for JAK2 and MPL mutations and JAK2V617F was found in three IDH-mutated cases (two PMF and one PV).
|
20410924 |
2010 |
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents.
|
20188141 |
2010 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
MPL(W515L) was found in 3% of ET and 8% of PMF, with a significantly higher percentage of mutated alleles in fibrotic than prefibrotic PMF (median, 78% MPL(W515L) alleles; p<0.05).
|
19616600 |
2009 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF.
|
19194467 |
2009 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other MPN-relevant putative oncogenes that are awaiting therapeutic validation, include JAK2 and MPL mutations in polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF); KITD816V and other KIT mutations in systemic mastocytosis, and FGFR1 rearrangements associated with the 8p11 leukemia/lymphoma syndrome.
|
19147089 |
2009 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The activating W515L mutation in the thrombopoietin receptor (MPL) has been identified in primary myelofibrosis and essential thrombocythemia.
|
19261614 |
2009 |
|
Primary Myelofibrosis
|
1.000 |
Biomarker
|
disease |
RGD |
Evaluation of bone marrow reticulin formation in chronic immune thrombocytopenia patients treated with romiplostim.
|
19671919 |
2009 |
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
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 |
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature.
|
19302922 |
2009 |
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Most of the cases of congenital amegakaryocytic thrombocytopenia are caused by defective expression or function of the thrombopoietin receptor due to homozygous or compound heterozygous mutations in the gene MPL.
|
19388932 |
2009 |
|
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.
|
19036112 |
2009 |
|
Primary Myelofibrosis
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acquired mutations in the juxtamembrane region of MPL (W515K or W515L), the receptor for thrombopoietin, have been described in patients with primary myelofibrosis or essential thrombocythemia, which are chronic myeloproliferative disorders.
|
18669880 |
2008 |