期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 17, 期 8, 页码 1010-1018出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2008.269
关键词
RUNX1T1; MTG8; ETO; acute myeloid leukemia (AML); brain development; heart development
资金
- Danish Heart Association
- Novonordisk Foundation
- Grosserer L. F. Foghts Fond
- Ronald McDonald House Charities
- Gangstedfonden
The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene ( also known as AML1) and the RUNX1T1 gene ( also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. Molecular characterization of the translocation break points in a t(5;8)(q32;q21.3) patient with mild-to-moderate mental retardation and congenital heart disease revealed that one of the break points was within the RUNX1T1 gene. Analysis of RUNX1T1 expression in human embryonic and fetal tissues suggests a role of RUNX1T1 in brain and heart development and support the notion that disruption of the RUNX1T1 gene is associated with the patient's phenotype. European Journal of Human Genetics ( 2009) 17, 1010-1018; doi:10.1038/ejhg.2008.269; published online 28 January 2009
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