|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The MM-VCEP began optimizing ACMG/AMP rules for RUNX1 because many germline variants have been described in patients with familial platelet disorder with a predisposition to acute myeloid leukemia, characterized by thrombocytopenia, platelet functional/ultrastructural defects, and a predisposition to hematologic malignancies.
|
31648317 |
2019 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Longitudinal sequencing of RUNX1 familial platelet disorder: new insights into genetic mechanisms of transformation to myeloid malignancies.
|
31124578 |
2019 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
It is one of the most frequent target genes of chromosomal translocation in leukemia, and germ line mutation of RUNX1 causes familial platelet disorder with associated myeloid malignancies.
|
29883054 |
2018 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia.
|
29666006 |
2018 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
C-terminal RUNX1 mutation in familial platelet disorder with predisposition to myeloid malignancies.
|
30083851 |
2018 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in RUNX1 are associated with familial platelet disorder with predisposition to AML.
|
28299663 |
2017 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germline variants within the transcription factor RUNX1 are associated with familial platelet disorder and acute leukemia in over 40% of carriers.
|
28513614 |
2017 |
|
Blood Platelet Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Our goals were to evaluate RUNX1-related platelet disorders among individuals evaluated for uncharacterized, inherited platelet function disorders and test a proof of concept that bleeding risks could be quantitatively estimated for typical families with an inherited platelet function disorder.
|
28181366 |
2017 |
|
Blood Platelet Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM).
|
28637620 |
2017 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation.
|
28659335 |
2017 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
We have investigated 41 carriers of RUNX1 alteration belonging to nine unrelated French families with FPD/AML and two syndromic patients, registered in the French network on rare platelet disorders from 2005 to 2015.
|
27112265 |
2016 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The description of novel mechanisms of disease including mutations in PRKACG, in a family with severe macrothrombocytopenia, RUNX1 and FLI1 mutations in patients with inherited mild platelet function disorders and CalDAG-GEFI resulting in a severe platelet bleeding phenotype show that there is still much to be learned from studying families and molecular sequencing of patients with well phenotyped platelet disorders.
|
26164464 |
2015 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations of RUNX1 have been reported to be associated with familial platelet disorder and with a predisposition for myelodysplasia and/or acute myeloid leukemia.
|
24853048 |
2015 |
|
Blood Platelet Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
Targeted gene correction of RUNX1 in induced pluripotent stem cells derived from familial platelet disorder with propensity to myeloid malignancy restores normal megakaryopoiesis.
|
26021490 |
2015 |
|
Blood Platelet Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
To elucidate the role of RUNX1 in the regulation of expression of platelet factor 4 (PF4) and to propose a plausible mechanism underlying RUNX1-mediated induction of the FPD phenotype.
|
23848403 |
2013 |
|
Blood Platelet Disorders
|
0.100 |
Biomarker
|
group |
BEFREE |
We propose MYH10 detection as a new and simple tool to identify inherited platelet disorders and myeloid neoplasms with abnormalities in RUNX1 and its associated proteins.
|
22677128 |
2012 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
FPD/AML is a familial platelet disorder characterized by platelet defects, predisposition to acute myelogenous leukemia (AML) and germ-line heterozygous RUNX1 alterations.
|
22898599 |
2012 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A heterozygous germline mutation of the RUNX1 gene causes a familial platelet disorder with a predisposition to AML.
|
21268063 |
2011 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Inactivating or dominant-negative mutations in the RUNX1 gene have been also identified in pedigrees of familial platelet disorders with a variable propensity to develop acute myeloid leukemia (FPD/AML).
|
21725049 |
2011 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Haploinsufficiency of the RUNX-1 gene, mapping at 21q22 is responsible for a platelet disorder and causes predisposition to myelodysplastic syndrome (MDS).
|
21671372 |
2011 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in transcription factor RUNX1 are associated with familial platelet disorder, thrombocytopenia, and predisposition to leukemia.
|
20876458 |
2010 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
RUNX1 gene is responsible for an autosomal dominant platelet disorder with predisposition to acute myelogenous leukemia.
|
20578134 |
2010 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.
|
19357396 |
2009 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies.
|
18166807 |
2008 |
|
Blood Platelet Disorders
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Germline mutations in RUNX1 result in familial platelet disorder with propensity to myeloid malignancy and inherited mutations of CEBPA predispose to AML.
|
18173751 |
2008 |