Searchable abstracts of presentations at key conferences on calcified tissues

ba0004is14 | (1) (1) | ICCBH2015

Somatic mosaic skeletal overgrowth disorders

Warman Matthew L

I will describe non-cancerous skeletal diseases that occur as a consequence of somatic mutation. I will introduce the work of Drs Mary Lyon, Dorothea Bennett, and Rudolf Happle that provided insights into the mechanism responsible for several genetic, non-heritable diseases. I will then describe the technology and analytic strategies that several laboratories, including my own, employed to identify mutations in patients with Maffucci, Proteus, CLOVES, and Klippel-Trenaunay syn...

ba0004is14biog | (1) (1) | ICCBH2015

Somatic mosaic skeletal overgrowth disorders

Warman Matthew L

Biographical DetailsDr Matthew L Warman is the Harriet M Peabody Professor of Orthopaedic Surgery and Genetics at Harvard Medical School. He attended college at Brown University and Medical School at Cornell University. While in medical school, he performed research with Dr Adele Boskey at The Hospital for Special Surgery. After medical school he trained in Pediatrics at the Children&#146...

ba0005p458 | Other diseases of bone and mineral metabolism | ECTS2016

Colony-stimulating factor 1 receptor a (Csf1ra)-deficient zebrafish as a model of unbalanced bone remodeling

Caetano-Lopes Joana , Urso Katia , Henke Katrin , Aliprantis Antonios O , Charles Julia F , Warman Matthew L , Harris Matthew P

Osteoclasts are multinucleated giant cells derived from the monocyte/macrophage lineage in the presence of receptor activator of nuclear factor kappa-B ligand (RANKL) and colony-stimulating factor 1 (CSF1). The bone remodeling process in zebrafish is incompletely understood. Here we describe several methods to quantify bone formation and resorption using a zebrafish mutant that lacks functional colony stimulating factor 1a receptor (csf1ramh5/mh5). Mice deficient in...