Type V OI Primary Osteoblasts Display Increased Mineralization Despite DecreasedCOL1A1Expression | Zendy

Adi Reich | Zendy; Alison Bae | Zendy; Aileen M. Barnes | Zendy; Wayne A. Cabral | Zendy; Aleksander Hinek | Zendy; Jennifer Stimec | Zendy; Suvimol Hill | Zendy; David Chitayat | Zendy; Joan C. Marini | Zendy

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Type V OI Primary Osteoblasts Display Increased Mineralization Despite DecreasedCOL1A1Expression

Author(s) -

Adi Reich,

Alison Bae,

Aileen M. Barnes,

Wayne A. Cabral,

Aleksander Hinek,

Jennifer Stimec,

Suvimol Hill,

David Chitayat,

Joan C. Marini

Publication year - 2014

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - Uncategorized

Resource type - Journals

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2014-3082

Subject(s) - osteogenesis imperfecta , osteoblast , type i collagen , endocrinology , medicine , mineralization (soil science) , chemistry , wild type , microbiology and biotechnology , mutant , biology , anatomy , biochemistry , in vitro , gene , organic chemistry , nitrogen

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 metaphyseal bands.

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