Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare platelet disorder caused by mutations in RUNX1.
|
31698193 |
2019 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
A novel germline RUNX1 mutation with co-occurrence of somatic alterations in a case of myeloid neoplasm with familial thrombocytopenia: first report from India.
|
30990344 |
2019 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
|
28960434 |
2018 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.
|
28513614 |
2017 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
|
28748566 |
2017 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
|
27112265 |
2016 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.
|
27069254 |
2016 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
|
27112265 |
2016 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.
|
25840971 |
2015 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.
|
26175287 |
2015 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.
|
25840971 |
2015 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects.
|
25114263 |
2014 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
CLINGEN |
Runx1 is required for progression of CD41+ embryonic precursors into HSCs but not prior to this.
|
25139854 |
2014 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
BEFREE |
Impaired hematopoietic differentiation of RUNX1-mutated induced pluripotent stem cells derived from FPD/AML patients.
|
24732596 |
2014 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.
|
23848403 |
2013 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.
|
23817177 |
2013 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Functional features of RUNX1 mutants in acute transformation of chronic myeloid leukemia and their contribution to inducing murine full-blown leukemia.
|
22318203 |
2012 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype.
|
24353905 |
2012 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
T cell acute lymphoblastic leukemia arising from familial platelet disorder.
|
20549580 |
2010 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.
|
20846103 |
2010 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
CausalMutation
|
disease |
CLINVAR |
A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?
|
19387465 |
2009 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
CLINVAR |
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.
|
19357396 |
2009 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GermlineCausalMutation
|
disease |
ORPHANET |
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy.
|
18723428 |
2008 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
GeneticVariation
|
disease |
BEFREE |
The platforms used were global gene expression profiling of: 1) cell lines with RUNX1 mutations from FPD-AML patients, 2) over-expression of RUNX1 and CBFbeta, and 3) Runx1 knockout mouse embryos using either cDNA or Affymetrix microarrays.
|
18671852 |
2008 |
Platelet Disorder, Familial, with Associated Myeloid Malignancy
|
0.730 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions.
|
18478040 |
2008 |