Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Using in vitro assays with hematopoietic progenitors from patients of both patient groups we could provide experimental evidence for a residual activity of the thrombopoietin receptor in CAMT II patients.
|
16470591 |
2006 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Using in vitro assays with hematopoietic progenitors from patients of both patient groups we could provide experimental evidence for a residual activity of the thrombopoietin receptor in CAMT II patients.
|
16470591 |
2006 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
|
24728327 |
2014 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
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 |
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations.
|
26854587 |
2016 |
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 |
Recently, we and others could define the molecular cause of the rare disease congenital amegakaryocytic thrombocytopenia (CAMT) as mutations in the c-mpl gene (Blood 97: 139, 2001).
|
12799278 |
2003 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia.
|
10971406 |
2000 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We describe a CAMT patient with compound heterozygous mutations of the causative MPL gene (one being a previously unreported splice site mutation in intron 11) who developed pancytopenia within the first month of life.
|
23625800 |
2013 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because the c-mpl gene was considered as one of the candidate genes for this disorder, we analyzed the genomic sequence of the c-mpl gene of a 10-year-old Japanese girl with CAMT.
|
10077649 |
1999 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we report for the first time two different MPL amino-acid substitutions in a 2-year-old Italian boy with CAMT and compound heterozygosis for two (c-mpl point mutations.
|
11071383 |
2000 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline loss-of-function (LOF) JAK3 and MPL mutations cause severe combined immunodeficiency and congenital amegakaryocytic thrombocytopenia, respectively.
|
18297515 |
2008 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia.
|
18422784 |
2008 |
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 |
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 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.
|
23625800 |
2013 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.
|
17666371 |
2007 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human myeloproliferative leukemia (MPL) protein gene are known to cause congenital amegakaryocytic thrombocytopenia (CAMT).
|
27811851 |
2017 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Thrombocytopenia in c-mpl-deficient mice.
|
8073287 |
1994 |
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 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These disorders are most readily distinguished from each other by the finding of radial aplasia in TAR and the presence of c-MPL mutations in CAMT.
|
16822462 |
2006 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
As previously suggested, c-MPL mutation analysis in CAMT patients helps to predict the clinical course and to provide optimal therapy.
|
18090929 |
2007 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Surprisingly, complimentary transduction of MPL into normal or CAMT iPSCs using a retroviral vector showed that MPL overexpression promoted erythropoiesis in normal CD34+ hematopoietic progenitor cells (HPCs), but impaired erythropoiesis and increased aberrant megakaryocyte production in CAMT iPSC-derived CD34+ HPCs, reflecting a difference in the expression of the transcription factor FLI1.
|
23908116 |
2013 |