Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia

Adamtsl2 deletion results in bronchial fibrillin microfibril accumulation and bronchial epithelial dysplasia – a novel mouse model providing insights into geleophysic dysplasia

Mutations in the secreted glycoprotein ADAMTSL2 cause recessive geleophysic dysplasia (GD) in humans and Musladin–Lueke syndrome (MLS) in dogs. GD is a severe, often lethal, condition presenting with short stature, brachydactyly, stiff skin, joint contractures, tracheal-bronchial stenosis and cardia...

Full description

Bibliographic Details
Main Authors: Dirk Hubmacher, Lauren W. Wang, Robert P. Mecham, Dieter P. Reinhardt, Suneel S. Apte
Format: Article
Language:English
Published: The Company of Biologists 2015-05-01
Series:Disease Models & Mechanisms
Subjects:
ADAMTS-like protein
Connective tissue disorder
Extracellular matrix
Fibrillin microfibril
Lung development
Online Access:http://dmm.biologists.org/content/8/5/487

Internet

http://dmm.biologists.org/content/8/5/487

Similar Items