PTH-Rezeptor
Das PTH1R-Gen kodiert den Rezeptor für PTH und PTH-related Protein. Es ist ein G-Protein gekoppelter Rezeptor. Mutationen sind für verschiedene autosomal dominante und rezessive Skelettveränderungen verantwortlich. Rezessiv sind das Eiken-Syndrom und die Blomstrand-Chondrodysplasie, während die Zahnbildungsstörungen und die Murk-Jansen metaphyseale Chondrodysplasie dominant sind.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
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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2. |
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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3. |
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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4. |
Hopyan S et al. (2002) A mutant PTH/PTHrP type I receptor in enchondromatosis.
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5. |
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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6. |
Mahon MJ et al. (2002) Na(+)/H(+ ) exchanger regulatory factor 2 directs parathyroid hormone 1 receptor signalling.
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7. |
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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8. |
Rozeman LB et al. (2004) Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.
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9. |
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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10. |
Blomstrand S et al. (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation.
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11. |
Jüppner H et al. (1991) A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide.
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12. |
Schipani E et al. (1995) Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene.
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13. |
Gelbert L et al. (1994) Chromosomal localization of the parathyroid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.1-p24.2.
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14. |
Pausova Z et al. (1994) Cloning of a parathyroid hormone/parathyroid hormone-related peptide receptor (PTHR) cDNA from a rat osteosarcoma (UMR 106) cell line: chromosomal assignment of the gene in the human, mouse, and rat genomes.
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15. |
None (1994) Molecular cloning and characterization of a parathyroid hormone/parathyroid hormone-related peptide receptor: a member of an ancient family of G protein-coupled receptors.
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16. |
McCuaig KA et al. (1994) Molecular cloning of the gene encoding the mouse parathyroid hormone/parathyroid hormone-related peptide receptor.
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17. |
Schipani E et al. (1993) Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor.
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18. |
Schipani E et al. (1999) A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.
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19. |
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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20. |
Loshkajian A et al. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
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21. |
Jobert AS et al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.
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22. |
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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23. |
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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24. |
Eiken M et al. (1984) A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet.
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25. |
Duchatelet S et al. (2005) Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
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26. |
Decker E et al. (2008) PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
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27. |
Lanske B et al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth.
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28. |
Schipani E et al. (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
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29. |
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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30. |
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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31. |
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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32. |
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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33. |
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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34. |
OMIM.ORG article
Omim 168468
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35. |
NCBI article
NCBI 5745
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36. |
Orphanet article
Orphanet ID 118140
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Update: 14. August 2020