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Jansen type metaphyseal chondrodysplasia

  1. Deletion of Zfp521 rescues the growth plate phenotype in a mouse model of Jansen metaphyseal chondrodysplasia.
  2. [Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia].
  3. Two unusual cases of nephrocalcinosis in infancy.
  4. Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type.
  5. A point mutation in the glucose-dependent insulinotropic peptide receptor confers constitutive activity.
  6. [Metaphyseal chondrodysplasia as differential diagnosis to rickets]
  7. The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult.
  8. Role of parathyroid hormone-related peptide and Indian hedgehog in skeletal development.
  9. Functional properties of the PTH/PTHrP receptor.
  10. Metaphyseal chondrodysplasia, type Jansen.
  11. PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development.
  12. [Activating mutations of the parathyroid hormone and parathyroid hormone related peptide]
  13. Partial rescue of PTH/PTHrP receptor knockout mice by targeted expression of the Jansen transgene.
  14. Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method.
  15. [Parathyroid hormone receptors: from cloning to physiological, physiopathological and clinical implications]
  16. Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide.
  17. [The PTH/PTHrP receptor: biological implications]
  18. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
  19. Bcl-2 lies downstream of parathyroid hormone-related peptide in a signaling pathway that regulates chondrocyte maturation during skeletal development.
  20. Asphyxiating thoracic dysplasia as a complication of metaphyseal chondrodysplasia (Jansen type).