Article
Pleiotropic and diverse expression of ZFHX1B gene transcripts during mouse and human development supports the various clinical manifestations of the "Mowat-Wilson" syndrome.
Neurobiology of disease - 1 Mar 2004
Bassez Guillaume, Camand Olivier J A, Cacheux Valère, Kobetz Alexandra, Dastot-Le Moal Florence, Marchant Dominique, Catala Martin, Abitbol Marc, Goossens Michel
Abstract excerpt
ZFHX1B encodes Smad-interacting protein 1, a transcriptional corepressor involved in the transforming growth factors beta (TGFbeta) signaling pathway. ZFHX1B mutations cause a complex developmental phenotype characterized by severe mental retardation (MR) and multiple congenital defects. We compared the distribution of ZFHX1B transcripts during mouse and human embryogenesis as well as in adult mice and humans....
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