Article
Knocking out TMEM38B in human foetal osteoblasts hFOB 1.19 by CRISPR/Cas9: A model for recessive OI type XIV.
PloS one - 1 Jan 2021
Leoni Laura, Tonelli Francesca, Besio Roberta, Gioia Roberta, Moccia Francesco, Rossi Antonio, Forlino Antonella
Abstract excerpt
Osteogenesis imperfecta (OI) type XIV is a rare recessive bone disorder characterized by variable degree of severity associated to osteopenia. It is caused by mutations in TMEM38B encoding for the trimeric intracellular cation channel TRIC-B, specific for potassium and ubiquitously present in the endoplasmic reticulum (ER) membrane. OI type XIV molecular basis is largely unknown and, due to the rarity of the...
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