ArticleEuropean journal of human genetics : EJHG2009
Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 22 citations in OpenAlex.
- Wdr26 insufficiency causes Skraban-Deardorff syndrome-like neurodevelopmental deficits in mice.The Journal of clinical investigation · 2026Article
- Blood transcriptomic signatures link β-amyloid deposition to molecular pathways across SCD, MCI, and dementia.Frontiers in aging neuroscience · 2026Article
- Hepatic Runx1t1 improves body fat index after endurance exercise in obese mice.Scientific reports · 2023Article
- MTG8 interacts with LHX6 to specify cortical interneuron subtype identity.Nature communications · 2022Article
- RUNX1T1, a potential prognostic marker in breast cancer, is co-ordinately expressed with ERα, and regulated by estrogen receptor signalling in breast cancer cells.Molecular biology reports · 2021Article
- Runx1t1 promotes the neuronal differentiation in rat hippocampus.Stem cell research & therapy · 2020Article
- A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.Molecular cytogenetics · 2019Article
- Characterization of RUNX1T1, an Adipogenesis Regulator in Ovine Preadipocyte Differentiation.International journal of molecular sciences · 2018Article
- Integrated Analyses Reveal Overexpressed Notch1 Promoting Porcine Satellite Cells' Proliferation through Regulating the Cell Cycle.International journal of molecular sciences · 2018Article
- Bone marrow failure may be caused by chromosome anomalies exerting effects onMolecular cytogenetics · 2018Article
- Mir-132/212 is required for maturation of binocular matching of orientation preference and depth perception.Nature communications · 2017Article
- Probing chromatin landscape reveals roles of endocardial TBX20 in septation.The Journal of clinical investigation · 2016Article
- A comprehensive gene expression analysis at sequential stages of in vitro cardiac differentiation from isolated MESP1-expressing-mesoderm progenitors.Scientific reports · 2016Article
- Runx1t1 regulates the neuronal differentiation of radial glial cells from the rat hippocampus.Stem cells translational medicine · 2015Article
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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