Endocrinology; Hypophosphatemia, Familial; Musculoskeletal Diseases; Orthopedics; Pediatrics; Vitamin D; Bone Density
Skin Diseases Research Center, Yale
Dr. Thomas Carpenter investigates disorders of mineral metabolism in children, including calcium, phosphorus, and Vitamin D (nutritional rickets). Dr. Carpenter is director of the Yale Center for X-Linked Hypophosphatemia (YC-XLH). He also directs the Physiology Core of the NIH-supported Yale Core Center for Musculoskeletal Diseases, which facilitates basic research in the bone. Dr. Carpenter chairs a committee which functions in concert with the Human Investigation Committee and the Yale Center for Clinical Investigation to insure the highest quality approach to clinical research and optimum measures of safety in pediatric research.
Specialized Terms: Regulation of phosphate homeostasis and Vitamin D metabolism; Vitamin and mineral nutrition; Bone cell biology; Assessment of bone density in children; Ethical issues in pediatric research
Extensive Research Description
- Novel therapy of X-linked hypophosphatemia
- Pathophysiology of X-linked hypophosphatemia
- Vitamin D response to supplementation in infants and children
- Carpenter TO, Zhang JH, Parra E, Ellis BK, Simpson C, Lee WM, Balko J, Fu L, Wong BY-L, Cole DEC. Vitamin D Binding Protein is a key determinant of 25-hydroxyvitamin D levels in infants and toddlers. J Bone Miner Res. 2012 Aug 9. doi: 10.1002/jbmr.1735. [Epub ahead of print]PMID: 22887780
- Dauber A, Nguyen TT, Sochett E, Cole DEC, Horst R, Abrams SA, Carpenter TO, Hirschhorn JN. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab 97:E268-274, 2012.
- Carpenter TO, Herreros F, Zhang JH, Ellis BK, Simpson C, Torrealba-Fox E, Kim GJ, Savoye M, Held N, Cole DEC. Demographic, dietary, and biochemical determinants of vitamin D status in inner-city children. Am J Clin Nutr 95:137-146, 2012.
- Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL. A clinician’s guide to X-linked hypophosphatemia. J Bone Min Res. 26:1381-1388, 2011.
- Liu ES, Carpenter TO, Gundberg CM, Simpson C, Insogna KL. Calcitonin administration in X-linked hypophosphatemia. New Engl J Med 364:1678-1680, 2011.
- Carpenter TO, Insogna KL, Zhang JH, Ellis B, Nieman S, Simpson C, Olear E, Gundberg CM. Circulating levels of soluble klotho and FGF23 in X-linked hypophosphatemia: circadian variance, effects of treatment and relationship to parathyroid status. J Clin Endocrinol Metab 95:E352-357, 2010.
- Brownstein C, Zhang J, Stillman A, Ellis B, Troiano N, Adams DJ, Gundberg CM, Lifton RP, Carpenter TO. Increased bone volume and correction of HYP mouse hypophosphatemia in the Klotho/HYP mouse. Endocrinology 151:492-501, 2010.
- Brownstein CA, Adler F, Nelson-Williams C, Iijma J, Imura A, Nabehsima Y, Carpenter TO, Lifton RP. A translocation causing increased a–Klotho level results in hypophosphatemic rickets and hyperparathyroidism. PNAS USA, 105:3455-3460, 2008.