Osteopetrosis

N Engl J Med. 2004 Dec 30;351(27):2839-49. doi: 10.1056/NEJMra040952.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Bone Resorption / genetics
  • Bone Resorption / physiopathology
  • Carbonic Anhydrases / deficiency
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism
  • Chloride Channels / genetics
  • Chloride Channels / metabolism
  • Disease Models, Animal
  • Genotype
  • Humans
  • Macrophage Colony-Stimulating Factor / metabolism
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism
  • Mice
  • Mutation
  • Osteoclasts / physiology*
  • Osteopetrosis / genetics*
  • Osteopetrosis / physiopathology
  • Proto-Oncogene Proteins / genetics
  • Proto-Oncogene Proteins / metabolism
  • Proton Pumps / deficiency
  • Proton Pumps / metabolism
  • RANK Ligand
  • Receptor Activator of Nuclear Factor-kappa B
  • Trans-Activators / genetics
  • Trans-Activators / metabolism

Substances

  • Carrier Proteins
  • Chloride Channels
  • Membrane Glycoproteins
  • Proto-Oncogene Proteins
  • Proton Pumps
  • RANK Ligand
  • Receptor Activator of Nuclear Factor-kappa B
  • TNFRSF11A protein, human
  • TNFSF11 protein, human
  • Tnfrsf11a protein, mouse
  • Tnfsf11 protein, mouse
  • Trans-Activators
  • proto-oncogene protein Spi-1
  • Macrophage Colony-Stimulating Factor
  • Carbonic Anhydrases