PathoGenetics


Open Access Research

Smad4 haploinsufficiency: a matter of dosage

Paola Alberici1,7, Claudia Gaspar1, Patrick Franken1, Marcin M Gorski2,8, Ingrid de Vries1, Rodney J Scott3, Ari Ristimäki4,6, Lauri A Aaltonen5,6 and Riccardo Fodde1*

Author Affiliations

1 Department of Pathology, Josephine Nefkens Institute, Erasmus MC, Rotterdam, The Netherlands

2 Department of Biochemistry, Erasmus MC, Rotterdam, The Netherlands

3 Newcastle Bowel Cancer Research Collaborative, Hunter Medical Research Institute, John Hunter Hospital and The University of Newcastle, Newcastle, Australia

4 Division of Pathology HUSLAB and Haartman Institute, Helsinki University Central Hospital, Helsinki, Finland

5 Department of Medical Genetics, HUSLAB and Haartman Institute, Helsinki University Central Hospital, Finland

6 Genome Scale Biology Program, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland

7 Current address: IFOM -The FIRC Institute of Molecular Oncology, IFOM-IEO Campus, Milano, Italy

8 Current address: Department of Experimental Oncology, European Institute of Oncology (IEO), IFOM-IEO Campus, Milano, Italy

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PathoGenetics 2008, 1:2 doi:10.1186/1755-8417-1-2

Published: 3 November 2008

Additional files

Additional file 1:

Supplementary Table 1. List of 64 functionally annotated genes differentially express in Smad4+/E6sad and Smad4E6sad/E6sad ES cell lines. Expression profiling values are expressed as absolute fold change values when compared to Smad4+/+ ES cells.

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Additional file 2:

Supplementary Table 2. Ingenuity Pathway Analysis of the 64 functionally annotated genes differentially expressed (denoted as "focus molecules" in bold) in Smad4+/E6sad and Smad4E6sad/E6sad ES cell lines. The column denoted as "Top Functions" describe the gene ontology groups to which the genes encompassed in a given Ingenuity Network belong. Only the top 4 networks with the most significant scores are included.

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