Ontology highlight
ABSTRACT:
SUBMITTER: Brownstein CA
PROVIDER: S-EPMC2265125 | biostudies-literature | 2008 Mar
REPOSITORIES: biostudies-literature
Brownstein Catherine A CA Adler Felix F Nelson-Williams Carol C Iijima Junko J Li Peining P Imura Akihiro A Nabeshima Yo-Ichi Y Reyes-Mugica Miguel M Carpenter Thomas O TO Lifton Richard P RP
Proceedings of the National Academy of Sciences of the United States of America 20080228 9
Phosphate homeostasis is central to diverse physiologic processes including energy homeostasis, formation of lipid bilayers, and bone formation. Reduced phosphate levels due to excessive renal loss cause hypophosphatemic rickets, a disease characterized by prominent bone defects; conversely, hyperphosphatemia, a major complication of renal failure, is accompanied by parathyroid hyperplasia, hyperparathyroidism, and osteodystrophy. Here, we define a syndrome featuring both hypophosphatemic ricket ...[more]