Article
Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.
The Journal of clinical endocrinology and metabolism - 1 Feb 2015
Reich Adi, Bae Alison S, Barnes Aileen M, Cabral Wayne A, Hinek Aleksander, Stimec Jennifer, Hill Suvimol C, Chitayat David, Marini Joan C
Abstract excerpt
CONTEXT: Patients with type V osteogenesis imperfecta (OI) are heterozygous for a dominant IFITM5 c.-14C>T mutation, which adds five residues to the N terminus of bone-restricted interferon-induced transmembrane-like protein (BRIL), a transmembrane protein expressed in osteoblasts. Type V OI skeletal findings include hyperplastic callus formation, ossification of the forearm interosseous membrane, and dense...
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