Article
Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.
Molecular genetics and metabolism - 1 Jan 2000
Roessler Erich, Pei Wuhong, Ouspenskaia Maia V, Karkera Jayaprakash D, Veléz Jorge Ivan, Banerjee-Basu Sharmilla, Gibney Gretchen, Lupo Philip J, Mitchell Laura E, Towbin Jeffrey A, Bowers Peter, Belmont John W, Goldmuntz Elizabeth, Baxevanis Andreas D, Feldman Benjamin, Muenke Maximilian
Abstract excerpt
The cyclopic and laterality phenotypes in model organisms linked to disturbances in the generation or propagation of Nodal-like signals are potential examples of similar impairments resulting in birth defects in humans. However, the types of gene mutation(s) and their pathogenetic combinations in humans are poorly understood. Here we describe a mutational analysis of the human NODAL gene in a large panel of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.