Functional classification of RUNX1 variants in familial platelet disorder with associated myeloid malignancies

Leukemia. 2021 Nov;35(11):3304-3308. doi: 10.1038/s41375-021-01200-w. Epub 2021 Mar 10.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biological Assay
  • Blood Platelet Disorders / genetics
  • Blood Platelet Disorders / metabolism
  • Blood Platelet Disorders / pathology*
  • Core Binding Factor Alpha 2 Subunit / classification
  • Core Binding Factor Alpha 2 Subunit / genetics*
  • Core Binding Factor Alpha 2 Subunit / metabolism
  • Core Binding Factor beta Subunit / genetics
  • Core Binding Factor beta Subunit / metabolism*
  • Genetic Predisposition to Disease
  • Humans
  • Leukemia, Erythroblastic, Acute / genetics
  • Leukemia, Erythroblastic, Acute / metabolism
  • Leukemia, Erythroblastic, Acute / pathology*
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myeloid, Acute / metabolism
  • Leukemia, Myeloid, Acute / pathology*
  • Mutation*
  • Myeloproliferative Disorders / genetics
  • Myeloproliferative Disorders / metabolism
  • Myeloproliferative Disorders / pathology*
  • Phosphorylation
  • Transcriptional Activation

Substances

  • CBFB protein, human
  • Core Binding Factor Alpha 2 Subunit
  • Core Binding Factor beta Subunit
  • RUNX1 protein, human