Article
Transforming growth factor-beta receptor type 1 (TGFBR1) is not associated with non-syndromic cleft lip with or without cleft palate in patients of Central European descent.
International journal of pediatric otorhinolaryngology - 1 Oct 2009
Reutter Heiko, Birnbaum Stefanie, Mende Meinhard, de Assis Nilma Almeida, Hoffmann Per, Lacava Amalia Diaz, Herms Stefan, Braumann Bert, Scheer Martin, Lauster Carola, Schmidt Gül, Schiefke Franziska, Dunsche Anton, Martini Markus, Knapp Michael, Kramer Franz-Josef, Nöthen Markus M, Mangold Elisabeth
Abstract excerpt
OBJECTIVE: Transforming growth factor-beta (TGF-β) type 1 receptor (also known as activin receptor-like kinase 5, ALK5) is expressed in palatal tissue during embryogenesis. Experimental studies in transgenic mice with a genetic deletion of Alk5 showed that TGF-β type 1 receptor is required for upper lip and midline fusion of the hard and soft palate. In humans, association of TGF-β type 1 receptor gene (TGFBR1)...
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