Notch inhibition by the ligand Delta-Like 3 defines the mechanism of abnormal vertebral segmentation in spondylocostal dysostosis

Mutations in the DELTA-LIKE 3 (DLL3) gene cause the congenital abnormal vertebral segmentation syndrome, spondylocostal dysostosis (SCD). DLL3 is a divergent member of the DSL family of Notch ligands that does not activate signalling in adjacent cells, but instead inhibits signalling when expressed...

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Veröffentlicht in:	Human molecular genetics 2011-03, Vol.20 (5), p.905-916
Hauptverfasser:	CHAPMAN, Gavin, SPARROW, Duncan B, KREMMER, Elisabeth, DUNWOODIE, Sally L
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - embryology Abnormalities, Multiple - genetics Abnormalities, Multiple - metabolism Animals Biological and medical sciences Cell Line Disease Models, Animal Diseases of the osteoarticular system Down-Regulation Female Fundamental and applied biological sciences. Psychology Genetics of eukaryotes. Biological and molecular evolution Heart Defects, Congenital - embryology Heart Defects, Congenital - genetics Heart Defects, Congenital - metabolism Hernia, Diaphragmatic - embryology Hernia, Diaphragmatic - genetics Hernia, Diaphragmatic - metabolism Humans Intracellular Signaling Peptides and Proteins - genetics Intracellular Signaling Peptides and Proteins - metabolism Ligands Lysosomes - metabolism Male Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Mesoderm - metabolism Mice Mice, Knockout Molecular and cellular biology Protein Binding Receptor, Notch1 - genetics Receptor, Notch1 - metabolism Signal Transduction
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