Article
ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.
Human molecular genetics - 15 Apr 2014
Wang Shih-Kai, Choi Murim, Richardson Amelia S, Reid Bryan M, Lin Brent P, Wang Susan J, Kim Jung-Wook, Simmer James P, Hu Jan C-C
Abstract excerpt
Integrins are cell-surface adhesion receptors that bind to extracellular matrices (ECM) and mediate cell-ECM interactions. Some integrins are known to play critical roles in dental enamel formation. We recruited two Hispanic families with generalized hypoplastic amelogenesis imperfecta (AI). Analysis of whole-exome sequences identified three integrin beta 6 (ITGB6) mutations responsible for their enamel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.