Dynll1 is essential for development and promotes endochondral bone formation by regulating intraflagellar dynein function in primary cilia
Abstract
Mutations in subunits of the cilia-specific cytoplasmic dynein-2 (CD2) complex cause short-rib thoracic dystrophy syndromes (SRTDs), characterized by impaired bone growth and life-threatening perinatal respiratory complications. Different SRTD mutations result in varying disease severities. It remains unresolved whether this reflects the extent of retained hypomorphic protein functions or relative importance of the affected subunits for the...
Paper Details
Title
Dynll1 is essential for development and promotes endochondral bone formation by regulating intraflagellar dynein function in primary cilia
Published Date
Apr 22, 2019
Journal
Volume
28
Issue
15
Pages
2573 - 2588
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