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musculoskeletal diseases • osteogenesis imperfecta • bone • tooth • mineralization
My research focuses on the functional characterization of genes encoding secreted and membrane proteins that are specifically expressed in bone cells (chondrocytes and osteoblasts). We are using both in vitro (cell culture) and in vivo (genetically modified mice) models to explore the roles played by those proteins in bone biology. Functional studies involve the use of various biochemical and molecular biology tools and techniques to overexpress or knock down the genes of interest. Currently my laboratory is studying osteogenesis imperfecta caused by mutations in the IFITM5/BRIL gene. Genetically engineered mouse models are being analyzed to help decipher the pathophysiologic effects of two different mutant BRIL proteins in vivo.
Role of SMPD3 during Bone Fracture Healing and Regulation of Its Expression. Manickam G, Moffatt P, Murshed M. Mol Cell Biol. 2019 Feb 4;39(4). pii: e00370-18. doi: 10.1128/MCB.00370-18. PMID: 30530524.
Crispr-Cas9 engineered osteogenesis imperfecta type V leads to severe skeletal deformities and perinatal lethality in mice. Rauch F, Geng Y, Lamplugh L, Hekmatnejad B, Gaumond MH, Penney J, Yamanaka Y, Moffatt P. Bone. 2018 Feb;107:131-142. PMID: 29174564.
The osteogenic cell surface marker BRIL/IFITM5 is dispensable for bone development and homeostasis in mice. Patoine A, Husseini A, Kasaai B, Gaumond MH, Moffatt P. PLoS One. 2017 Sep 7;12(9):e0184568. PMID: 28880886.
Absence of the dermatan sulfate chain of decorin does not affect mouse development. Moffatt P, Geng Y, Lamplugh L, Nanci A, Roughley PJ. J Negat Results Biomed. 2017 Apr 17;16(1):7. PMID: 28412940.
Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. Rauch F, Fahiminiya S, Majewski J, Carrot-Zhang J, Boudko S, Glorieux F, Mort JS, Bächinger HP, Moffatt P. Am J Hum Genet. 2015 Mar 5;96(3):425-31. PMID: 25683117.