It is now well established that bone marrow contains a population of cells, marrow stromal fibroblasts (MSF's, which proliferate from colony-forming units, CFU-f), that have the potential to form bone/cartilage, adipose and hematopoiesis-supporting stroma. The phenotypic fate of these cells depends on the microenvironment (systemic and local factors) to which they are exposed. Consequently, these cells provide an excellent model system for determining the factors that regulate phenotypic expression, and for use in skeletal regeneration and repair. Current studies are identifying procedures by which these cells can be used for bone augmentation and in gene transfer. In addition, it is now apparent that these cells play a major role in controlling skeletal metabolism, and derangements in their function leads to disease, such as in fibrous dysplasia of McCune-Albright syndrome. Since the genetic mutation is known in this particular disease, it is now possible to address in mechanistic terms, how these mutations affect skeletal metabolism.
| Robinson, Cemre; Estrada, Andrea; Zaheer, Atif et al. (2018) Clinical and Radiographic Gastrointestinal Abnormalities in McCune-Albright Syndrome. J Clin Endocrinol Metab 103:4293-4303 |
| Chong, William H; Andreopoulou, Panagiota; Chen, Clara C et al. (2013) Tumor localization and biochemical response to cure in tumor-induced osteomalacia. J Bone Miner Res 28:1386-98 |
| Theman, Todd A; Collins, Michael T; Dempster, David W et al. (2009) PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation. J Bone Miner Res 24:964-73 |
| Applbaum, Arthur Isak; Tilburt, Jon C; Collins, Michael T et al. (2008) A family's request for complementary medicine after patient brain death. JAMA 299:2188-93 |
| Celi, Francesco S; Coppotelli, Giuseppe; Chidakel, Aaron et al. (2008) The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3,5,3'-triiodothyronine toxicosis of McCune-Albright syndrome. J Clin Endocrinol Metab 93:2383-9 |
| Kuznetsov, Sergei A; Cherman, Natasha; Riminucci, Mara et al. (2008) Age-dependent demise of GNAS-mutated skeletal stem cells and ""normalization"" of fibrous dysplasia of bone. J Bone Miner Res 23:1731-40 |
| Dumitrescu, Claudia E; Collins, Michael T (2008) McCune-Albright syndrome. Orphanet J Rare Dis 3:12 |
| Kelly, M H; Brillante, B; Collins, M T (2008) Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions. Osteoporos Int 19:57-63 |
| Khosravi, Azarmindokht; Cutler, Carolee M; Kelly, Marilyn H et al. (2007) Determination of the elimination half-life of fibroblast growth factor-23. J Clin Endocrinol Metab 92:2374-7 |
| Feuillan, Penelope; Calis, Karim; Hill, Suvimol et al. (2007) Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. J Clin Endocrinol Metab 92:2100-6 |
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