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23 Habener JF, Potts JT Jr: Biosynthesis of parathyroid hormone (second of two parts). N Engl J Med 1978; 299:635–644. 24 Habener JF, Potts JT Jr: Biosynthesis of parathyroid hormone (first of two parts). N Engl J Med 1978; 299:580–585. 25 Kronenberg HM, Bringhurst FR, Segre GV, Potts JT: Parathyroid hormone biosynthesis and metabolism; in Bilezikian JP, Marcus R, Levine MA (eds): The Parathyroids: Basic and Clinical Concepts. San Diego, Academic Press, 2001. 30 26 Nissensen RA: Receptors for parathyroid hormone and parathyroid hormone-related protein: signaling and regulation; in Bilezikian JP, Marcus R, Levine MA (eds): The Parathyroids: Basic and Clinical Concepts.
In addition, there is a further gene, Syntaxin (STX16) (*603666), upstream of the GNAS complex which appears to influence the methylation of the A/B exon. Mutations within the biallelic coding region (exons 2–13) of the gene result in resistance to the action of PTH which clinically causes pseudohypoparathyroidism type 1a (PHP1A) (#103580) if they are associated with the maternally derived transcripts but cause pseudopseudohypoparathyroidism (PPHP) (#612463) and/or progressive osseous heteroplasia (POH) (#166350) if derived from paternal sources .
A A condensation of mesenchymal cells leads to the formation of a cartilage model of the bone. b Chondrocytes beneath the perichondrium (black) differentiate, become hypertrophic and eventually undergo apoptosis, resulting in cartilage mineralisation (shaded) and release of metalloproteinases. c Angiogenic factors released by chondrocytes encourage vascular invasion, recruiting osteoclast and osteoblast precursors that differentiate and convert calcified cartilage into true bone. Growth plates (GP) establish from chondrocytes in the epiphyseal regions.