RUNX1


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RUNX1

A gene on chromosome 21q22.3 that encodes the alpha subunit of core binding factor (CBF), a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. RUNX1 is thought to be involved in the development of normal haematopoiesis. 

Molecular pathology
Chromosomal translocations involving RUNX1 are well documented and associated with several types of leukaemia.
References in periodicals archive ?
12-14) RUNX1 germline mutations can present with decreased delta storage granules and more significant bleeding.
RUNX1 contributes to higher-order chromatin organization and gene regulation in breast cancer cells.
RUNX1 and CBFb are essential for normal haematopoiesis and required for cellular differentiation.
com)-- Leading RUNX1 Researchers Gathering in Philadelphia Nov.
Guy Sauvageau from the University of Montreal who was the primary researcher on a study of RUNX1 mutations that confer exquisite sensitivity to glucocorticoids.
Domain I of the structured N-terminal CagA interacts with tumor suppressors, ASPP2 and RUNX1, resulting in inactivation of tumor suppressor functions.
sup][6] also reported a similar case involving a 2-year-old boy with translocated in liposarcoma ( TLS )/fused in sarcoma ( FUS )-ets-related gene ( ERG )-positive AML that relapsed as a TLS/FUS-ERG -negative but an runt-related transcription factor 1 ( RUNX1 )-positive genotype.
Among them, we chose three genes, which are RUNX1, dual-specificity tyrosine-(Y)-phosphoiylation regulated kinase 1A (DYRK1A), and potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), based on their reported functions.
Scientists have known for some time that two genes, RUNX1 and CBFB, can be affected by chromosomal rearrangements in AML.
Our study has some limitations, such as the relatively small group size, the lack of investigation of RUNX1 gene mutation (and other mutations), and the lack of antioxidant enzyme activity determination.
Since RUNX1 and CSF3R mutations among congenital neutropenias carry a potential for leukemia, G-CSF should be used carefully in patients with these mutations (21).
These genes include TAL1 and RUNX1, both of which are essential for the development of blood stem cells, and hence to human life.