PTH receptor
The PTH1R gene encodes a G protein coupled receptor for PTH and PTH-related protein. Mutations cause various autosomal dominant and recessive disorders. While chondrodysplasia of Blomstrand type and Eiken syndrome are recessive, failure of tooth eruption and metaphyseal chondrodysplasia of Murk Jansen type are dominant.
Genetests:
Related Diseases:
References:
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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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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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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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Rozeman LB et al. (2004) Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C.
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Blomstrand S et al. (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation.
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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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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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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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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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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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Loshkajian A et al. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.
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Jobert AS et al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.
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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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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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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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Duchatelet S et al. (2005) Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
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Decker E et al. (2008) PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption.
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Lanske B et al. (1996) PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth.
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Schipani E et al. (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
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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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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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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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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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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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OMIM.ORG article
Omim 168468
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NCBI article
NCBI 5745
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Orphanet article
Orphanet ID 118140
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Wikipedia article
Wikipedia EN (Parathyroid_hormone_receptor)
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Update: Aug. 14, 2020