Type V OI Primary Osteoblasts Display Increased Mineralization Despite Decreased COL1A1 Expression

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 skel...

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Detalles Bibliográficos
Publicado en:J Clin Endocrinol Metab
Autores principales: Reich, Adi, Bae, Alison S., Barnes, Aileen M., Cabral, Wayne A., Hinek, Aleksander, Stimec, Jennifer, Hill, Suvimol C., Chitayat, David, Marini, Joan C.
Formato: Artigo
Lenguaje:Inglês
Publicado: Endocrine Society 2015
Materias:
JCEM Online: Advances in Genetics
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4318905/
https://ncbi.nlm.nih.gov/pubmed/25387264
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2014-3082
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