Joan C. Marini

TL;DR: A West African founder mutation for recessive OI in LEPRE1 is identified, consistent with introduction to North America via the Atlantic slave trade (1501–1867 CE).

TL;DR: Some dominant genetic disorders, viral processes and neoplastic disorders base their pathogenicity on the production of protein or proteins that negatively affect cellular metabolism or environment and the inhibition of the synthesis of those proteins should prevent the biological damage.

TL;DR: It is speculated that there is a group of OI children who have a hypoactive growth hormone axis and some OI bone appears to respond to GH and a treatment trial with protropin is planned for a larger number of children.

TL;DR: It is shown that CPE KO mice, an obese animal model, have low bone mineral density (BMD) accompanied by elevated plasma CTX-1 (carboxy-terminal collagen crosslinks), and osteocalcin, indicators of increased bone turnover, and the possibility that patients, bearing CPE and CART mutations leading to inactive forms of these molecules, may be at a higher risk of developing osteoporosis is suggested.

TL;DR: The data indicate that CypB modulates collagen cross-linking by differentially affecting lysine hydroxylation in a site-specific manner, possibly via its interaction with lysyl Hydroxylases and associated molecules.