Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.
|
28859041 |
2018 |
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 |
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 |
CausalMutation
|
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 |
UNIPROT |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
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 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
|
11133753 |
2001 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics.
|
18240171 |
2008 |
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 |
GermlineCausalMutation
|
disease |
ORPHANET |
Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia.
|
24438083 |
2014 |
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 |
CausalMutation
|
disease |
CLINVAR |
The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.
|
25538044 |
2015 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
Congenital amegakaryocytic thrombocytopenia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
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 |
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 |
CausalMutation
|
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 |
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 |
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 |