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Article

Epiphyseal growth plate architecture is unaffected by early postnatal activation of the expression of R992C collagen II mutant.

Bone - 1 Jul 2018

Fertala Jolanta, Arita Machiko, Steplewski Andrzej, Arnold William V, Fertala Andrzej

Abstract excerpt

Spondyloepiphyseal dysplasia (SED) exemplifies a group of heritable diseases caused by mutations in collagenous proteins of the skeletal system. Its main feature is altered skeletal growth. Pathomechanisms of SED include: changes in the stability of collagen II molecules, inability to form proper collagen fibrils, excessive intracellular retention of mutant molecules, and endoplasmic reticulum stress. The...

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PMID: 29660427
DOI: 10.1016/j.bone.2018.04.008

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