Condition: Platelet Disorder, Familial, with Associated Myeloid Malignancy


rs1060499616 in LOC112267915;RUNX1 gene and Platelet Disorder, Familial, with Associated Myeloid Malignancy PMID 10508512 1999 Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

PMID 25840971 2015 Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.

PMID 26175287 2015 Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.

PMID 11830488 2002 In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.

PMID 28960434 2018 Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.

PMID 23848403 2013 RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.

rs1057519748 in RUNX1 gene and Platelet Disorder, Familial, with Associated Myeloid Malignancy PMID 20549580 2010 T cell acute lymphoblastic leukemia arising from familial platelet disorder.

PMID 19387465 2009 A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation?

PMID 10508512 1999 Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia.

PMID 28513614 2017 Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.

PMID 17290219 2007 Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles.

PMID 11830488 2002 In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis.

PMID 23848403 2013 RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.

PMID 24353905 2012 Hereditary leukemia due to rare RUNX1c splice variant (L472X) presents with eczematous phenotype.

PMID 30990344 2019 A novel germline RUNX1 mutation with co-occurrence of somatic alterations in a case of myeloid neoplasm with familial thrombocytopenia: first report from India.

PMID 25840971 2015 Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.

PMID 20846103 2010 Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder.

PMID 23817177 2013 RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes.

PMID 28748566 2017 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.

PMID 22318203 2012 Functional features of RUNX1 mutants in acute transformation of chronic myeloid leukemia and their contribution to inducing murine full-blown leukemia.

PMID 27112265 2016 Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

rs267607026 in RUNX1;LOC112267915 gene and Platelet Disorder, Familial, with Associated Myeloid Malignancy PMID 19357396 2009 High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder.

PMID 27112265 2016 Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.

PMID 26175287 2015 Analyses of Genetic and Clinical Parameters for Screening Patients With Inherited Thrombocytopenia with Small or Normal-Sized Platelets.

PMID 23848403 2013 RUNX1, but not its familial platelet disorder mutants, synergistically activates PF4 gene expression in combination with ETS family proteins.

PMID 12060124 2002 A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia.