Article
Progressive skeletal defects caused by Kindlin3 deficiency, a model of autosomal recessive osteopetrosis in humans.
Bone - 1 Jul 2022
Dudiki Tejasvi, Nascimento Daniel W, Childs Lauren S, Kareti Swetha, Androjna Charlie, Zhevlakova Irina, Byzova Tatiana V
Abstract excerpt
The cellular and molecular mechanisms of bone development and homeostasis are clinically important, but not fully understood. Mutations in integrins and Kindlin3 in humans known as Leukocyte adhesion deficiencies (LAD) cause a wide spectrum of complications, including osteopetrosis. Yet, the rarity, frequent misdiagnosis, and lethality of LAD preclude mechanistic analysis of skeletal abnormalities in these...
Topics
- Animals
- Bone Remodeling
- Bone and Bones
- Humans
- Mice
- Middle Aged
- Mutation
- Osteopetrosis