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Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients

Cibele Masotti1, Camila C Ornelas1, Alessandra Splendore-Gordonos2, Ricardo Moura3, Têmis M Félix4, Nivaldo Alonso5, Anamaria A Camargo3 and Maria Rita Passos-Bueno1*

Author Affiliations

1 Centro de Estudos do Genoma Humano, Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil

2 Department of Genetics, Stanford University, California, USA

3 Ludwig Institute for Cancer Research, São Paulo Branch, Hospital Alemão Oswaldo Cruz, São Paulo, SP, Brazil

4 Departamento de Genética Médica, Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil

5 Departamento de Cirurgia Plástica, Hospital das Clínicas da Faculdade de Medicina, Universidade de São Paulo, SP, Brazil

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BMC Medical Genetics 2009, 10:136  doi:10.1186/1471-2350-10-136

Published: 14 December 2009

Additional files

Additional file 1:

Primer sequences used in this report.

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Additional file 2:

Percentage of positive cells for mesenchymal cell markers.

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Additional file 3:

Flow cytometry analysis of mesenchymal cells from patients TCS16, 21, 22, and 23. Values represent the mean percentage of all assessed cells positively stained by the indicated antigens (CD31, CD73 (SH4), (SH2) CD105) and analyzed by flow cytometry. Graphs show relative number of cells (events) versus fluorescence intensity. Unmarked cells (control) were used as negative controls in both non-conjugated and conjugated antibodies. Solid histograms (black) show marker expression; open histograms (grey) show no marker expression. Horizontal lines represent the range of positive cells interval. CD means cluster of differentiation.

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