Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Pseudohyperparathyreoidismus

Der Pseudohyperparathyreoidismus ist gekennzeichnet durch Hypercalciämie, Hypophosphatämie bei Hypercalciurie und Hyperphosphaturie wobei das PTH und das PTH-related Protein supprimiert sind.

Gliederung

Erkrankungen der Nebenschilddrüse
Humorale paraneoplastische Hypercalciämie
Hyperparathyreoidismus
Hypoparathyreoidismus
Karzinom der Nebenschilddrüse
Pseudohyperparathyreoidismus
Murk-Jansen metaphyseale Chondrodysplasie
PTH1R
Pseudohypoparathyreoidismus

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.

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2.

Schipani E et. al. (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.

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3.

Lanske B et. al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth.

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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.

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5.

Schipani E et. al. (1996) Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.

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6.

Parfitt AM et. al. (1996) Hypercalcemia due to constitutive activity of the parathyroid hormone (PTH)/PTH-related peptide receptor: comparison with primary hyperparathyroidism.

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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.

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8.

Loshkajian A et. al. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.

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9.

Jobert AS et. al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

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10.

Zhang P et. al. (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.

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11.

Schipani E et. al. (1999) A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.

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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.

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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.

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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.

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15.

Hopyan S et. al. (2002) A mutant PTH/PTHrP type I receptor in enchondromatosis.

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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.

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17.

Mahon MJ et. al. (2002) Na(+)/H(+ ) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling.

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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.

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19.

Rozeman LB et. al. (2004) Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.

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20.

Duchatelet S et. al. (2005) Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

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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.

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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.

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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.

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24.

Decker E et. al. (2008) PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.

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25.

Karaplis AC et. al. (1994) Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene.

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26.

Gordon SL et. al. (1976) Jansen's metaphyseal dysostosis.

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27.

Holthusen W et. al. (1975) The skull in metaphyseal chondrodysplasia type Jansen.

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28.

None (1969) Metaphyseal dysostosis of Jansen.

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29.

de Haas WH et. al. (1969) Metaphysial dysostosis. A late follow-up of the first reported case.

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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.

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31.

Kruse K et. al. (1993) Calcium metabolism in the Jansen type of metaphyseal dysplasia.

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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.

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33.

None (2002) Some chondrodysplasias with short limbs: molecular perspectives.

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