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References from Functional analysis of germline RUNX1 variants identified in individuals with suspected familial platelet disorder. Local targets link to admitted publications; unresolved targets remain external evidence.
Purification of a mouse nuclear factor that binds to both the A and B cores of the polyomavirus enhancer
10.1128/jvi.64.10.4808-4819.1990 · 1990 · External reference
Purification of core-binding factor, a protein that binds the conserved core site in murine leukemia virus enhancers
1992 · External reference
Immunoglobulin motif DNA recognition and heterodimerization of the PEBP2/CBF Runt domain
10.1038/10658 · 1999 · External reference
Structural analyses of DNA recognition by the AML1/Runx-1 Runt domain and its allosteric control by CBFbeta
10.1016/s0092-8674(01)00271-9 · 2001 · External reference
Intrinsic transcriptional activation-inhibition domains of the polyomavirus enhancer binding protein 2/core binding factor alpha subunit revealed in the presence of the beta subunit
10.1128/mcb.18.5.2444 · 1998 · External reference
Biological characteristics of the leukemia-associated transcriptional factor AML1 disclosed by hematopoietic rescue of AML1-deficient embryonic stem cells by using a knock-in strategy
10.1128/mcb.20.1.319-328.2000 · 2000 · External reference
A mechanism of repression by acute myeloid leukemia-1, the target of multiple chromosomal translocations in acute leukemia
10.1074/jbc.275.1.651 · 2000 · External reference
Intranuclear targeting of AML/CBFalpha regulatory factors to nuclear matrix-associated transcriptional domains
10.1073/pnas.95.4.1585 · 1998 · External reference
Identification of a nuclear matrix targeting signal in the leukemia and bone-related AML/CBF-alpha transcription factors
10.1073/pnas.94.13.6746 · 1997 · External reference
The leukemia-associated AML1 (Runx1)--CBF beta complex functions as a DNA-induced molecular clamp
10.1038/86264 · 2001 · External reference
Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis
10.1073/pnas.93.8.3444 · 1996 · External reference
AML1, the target of multiple chromosomal translocations in human leukemia, is essential for normal fetal liver hematopoiesis
10.1016/s0092-8674(00)80986-1 · 1996 · External reference
The CBFbeta subunit is essential for CBFalpha2 (AML1) function in vivo
10.1016/s0092-8674(00)81389-6 · 1996 · External reference
Role of RUNX1 in hematological malignancies
10.1182/blood-2016-10-687830 · 2017 · External reference
Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia
10.1038/13793 · 1999 · External reference
Inherited predisposition to acute myeloid leukemia
10.1053/j.seminhematol.2014.08.001 · 2014 · External reference
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA)
10.1182/blood.2019000937 · 2020 · External reference
Natural history study of patients with familial platelet disorder with associated myeloid malignancy
10.1182/blood.2023019746 · 2023 · External reference
Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy
10.1182/bloodadvances.2023011165 · 2024 · External reference
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML
10.1182/bloodadvances.2019000901 · 2020 · External reference
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies
10.3324/haematol.2018.214221 · 2020 · External reference
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants
10.1182/bloodadvances.2019000644 · 2019 · External reference
Revision of RUNX1 variant curation rules
10.1182/bloodadvances.2022008017 · 2022 · External reference
Synergistic up-regulation of the myeloid-specific promoter for the macrophage colony-stimulating factor receptor by AML1 and the t(8;21) fusion protein may contribute to leukemogenesis
10.1073/pnas.93.21.11895 · 1996 · External reference
RUNX1 and CBFbeta-SMMHC transactivate target genes together in abnormal myeloid progenitors for leukemia development
10.1182/blood.2020007747 · 2020 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
10.1038/gim.2015.30 · 2015 · External reference
ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
10.1016/j.ajhg.2023.11.009 · 2024 · External reference
Identification and molecular characterization of a novel 3′ mutation in RUNX1 in a family with familial platelet disorder
10.3109/10428194.2010.503821 · 2010 · External reference
Germline variants of RUNX-1 in myeloid malignancy
10.1182/blood.v128.22.3926.3926 · 2016 · External reference
Protection against streptococcal cell wall-induced arthritis by pretreatment with the 65-kD mycobacterial heat shock protein
10.1084/jem.170.2.449 · 1989 · External reference
CCAAT enhancer-binding protein (C/EBP) and AML1 (CBF alpha2) synergistically activate the macrophage colony-stimulating factor receptor promoter
10.1128/mcb.16.3.1231 · 1996 · External reference
Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies
10.1038/s41375-021-01200-w · 2021 · External reference
Validation and clinical application of transactivation assays for RUNX1 variant classification
10.1182/bloodadvances.2021006161 · 2022 · External reference
Disease mutations in RUNX1 and RUNX2 create nonfunctional, dominant-negative, or hypomorphic alleles
10.1038/sj.emboj.7601568 · 2007 · External reference
Biallelic and heterozygous point mutations in the runt domain of the AML1/PEBP2alphaB gene associated with myeloblastic leukemias
10.1182/blood.v93.6.1817.406k36_1817_1824 · 1999 · External reference
Biological activities of RUNX1 mutants predict secondary acute leukemia transformation from chronic myelomonocytic leukemia and myelodysplastic syndromes
10.1158/1078-0432.ccr-14-2203 · 2015 · External reference
Interface-guided phenotyping of coding variants in the transcription factor RUNX1
10.1016/j.celrep.2024.114436 · 2024 · External reference
RUNX1 meets MLL: epigenetic regulation of hematopoiesis by two leukemia genes
10.1038/leu.2013.200 · 2013 · External reference
Cyclin-dependent kinase phosphorylation of RUNX1/AML1 on 3 sites increases transactivation potency and stimulates cell proliferation
10.1182/blood-2007-08-109702 · 2008 · External reference
Thermodynamic investigation of DNA-binding affinity of wild-type and mutant transcription factor RUNX1
10.1371/journal.pone.0216203 · 2019 · External reference
Site-directed mutagenesis supports a three-dimensional model of the runt domain
10.1006/jmbi.1998.1633 · 1998 · External reference
RUNX1 C-terminal mutations impair blood cell differentiation by perturbing specific enhancer-promoter networks
10.1182/bloodadvances.2023011484 · 2024 · External reference
Transcriptional repression by AML1 and LEF-1 is mediated by the TLE/Groucho corepressors
10.1073/pnas.95.20.11590 · 1998 · External reference
TLE, the human homolog of groucho, interacts with AML1 and acts as a repressor of AML1-induced transactivation
10.1006/bbrc.1998.9705 · 1998 · External reference
RUNX1-RUNX1 homodimerization modulates RUNX1 activity and function
10.1074/jbc.m700074200 · 2007 · External reference
Auto-inhibition and partner proteins, core-binding factor beta (CBFbeta) and Ets-1, modulate DNA binding by CBFalpha2 (AML1)
10.1128/mcb.20.1.91-103.2000 · 2000 · External reference
Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework
10.1186/s13073-019-0690-2 · 2019 · External reference
Acute myeloid leukemia associated RUNX1 variants induce aberrant expression of transcription factor TCF4
10.1038/s41375-024-02470-w · 2025 · External reference
Platelet transcriptome analysis in patients with germline RUNX1 mutations
10.1016/j.jtha.2023.01.023 · 2023 · External reference
Functional classification of germline RUNX1 variants identified in patients suspected of familial platelet disorder with associated myeloid malignancies
10.1182/blood-2023-190104 · 2023 · External reference
Variant interpretation: functional assays to the rescue
10.1016/j.ajhg.2017.07.014 · 2017 · External reference