Pseudohyperparathyreoidismus
Der Pseudohyperparathyreoidismus ist gekennzeichnet durch Hypercalciämie, Hypophosphatämie bei Hypercalciurie und Hyperphosphaturie wobei das PTH und das PTH-related Protein supprimiert sind.
Gliederung
Referenzen:
1. |
Chen L et. al. (2001) A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia. [^] |
2. |
Schipani E et. al. (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. [^] |
3. |
Lanske B et. al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. [^] |
4. |
Fukumoto S et. al. (1996) Absence of mutations in parathyroid hormone (PTH)/PTH-related protein receptor complementary deoxyribonucleic acid in patients with pseudohypoparathyroidism type Ib. [^] |
5. |
Schipani E et. al. (1996) Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. [^] |
6. |
Parfitt AM et. al. (1996) Hypercalcemia due to constitutive activity of the parathyroid hormone (PTH)/PTH-related peptide receptor: comparison with primary hyperparathyroidism. [^] |
7. |
Bettoun JD et. al. (1997) Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b. [^] |
8. |
Loshkajian A et. al. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation. [^] |
9. |
Jobert AS et. al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. [^] |
10. |
Zhang P et. al. (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. [^] |
11. |
Schipani E et. al. (1999) A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. [^] |
12. |
Karperien M et. al. (1999) A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. [^] |
13. |
Manen D et. al. (2000) Positive and negative control of the expression of parathyroid hormone (PTH)/PTH-related protein receptor via proximal promoter P3 in human osteoblast-like cells. [^] |
14. |
Minagawa M et. al. (2001) Analysis of the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene in pseudohypoparathyroidism type 1b. [^] |
15. |
Hopyan S et. al. (2002) A mutant PTH/PTHrP type I receptor in enchondromatosis. [^] |
16. |
Minagawa M et. al. (2002) Association between AAAG repeat polymorphism in the P3 promoter of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene and adult height, urinary pyridinoline excretion, and promoter activity. [^] |
17. |
Mahon MJ et. al. (2002) Na(+)/H(+ ) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling. [^] |
18. |
Bastepe M et. al. (2004) A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. [^] |
19. |
Rozeman LB et. al. (2004) Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. [^] |
20. |
Duchatelet S et. al. (2005) Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. [^] |
21. |
Scillitani A et. al. (2006) A functional polymorphism in the PTHR1 promoter region is associated with adult height and BMD measured at the femoral neck in a large cohort of young caucasian women. [^] |
22. |
Hoogendam J et. al. (2007) Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. [^] |
23. |
Wang B et. al. (2008) Na/H exchange regulatory factor 1, a novel AKT-associating protein, regulates extracellular signal-regulated kinase signaling through a B-Raf-mediated pathway. [^] |
24. |
Decker E et. al. (2008) PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. [^] |
25. |
Karaplis AC et. al. (1994) Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. [^] |
26. |
Gordon SL et. al. (1976) Jansen's metaphyseal dysostosis. [^] |
27. |
Holthusen W et. al. (1975) The skull in metaphyseal chondrodysplasia type Jansen. [^] |
28. |
None (1969) Metaphyseal dysostosis of Jansen. [^] |
29. |
de Haas WH et. al. (1969) Metaphysial dysostosis. A late follow-up of the first reported case. [^] |
30. |
Charrow J et. al. (1984) The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult. [^] |
31. |
Kruse K et. al. (1993) Calcium metabolism in the Jansen type of metaphyseal dysplasia. [^] |
32. |
Schipani E et. al. (1997) Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia. [^] |
33. |
None (2002) Some chondrodysplasias with short limbs: molecular perspectives. [^] |