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  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

Zhang, L., Tümer, Z., Møllgård, K., Barbi, G., Rossier, E., Bendsen, E., et al. (2009). 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. European Journal of Human Genetics, 17(8), 1010-1018. doi:10.1038/ejhg.2008.269.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D48-6 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D49-4
Genre: Journal Article
Alternative Title : Eur J Hum Genet

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 Creators:
Zhang, Litu, Author
Tümer, Zeynep, Author
Møllgård, Kjeld, Author
Barbi, Gotthold, Author
Rossier, Eva, Author
Bendsen, Eske, Author
Møller, Rikke Steensbjerre, Author
Ullmann, Reinhard1, Author              
He, Jian, Author
Papadopoulos, Nickolas, Author
Tommerup, Niels, Author
Larsen, Lars Allan, Author
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              

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Free keywords: RUNX1T1; MTG8; ETO; Acute myeloid leukemia (AML); Brain development; Heart development
 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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Language(s): eng - English
 Dates: 2009-08
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Degree: -

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Title: European Journal of Human Genetics
  Alternative Title : Eur J Hum Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 17 (8) Sequence Number: - Start / End Page: 1010 - 1018 Identifier: ISSN: 1018-4813