Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Blomstrand-Chondrodysplasie
PTH1R
Eiken-Syndrom
PTH1R
Zahnbildungsstörungen
PTH1R
Murk-Jansen metaphyseale Chondrodysplasie
PTH1R

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.

Jüppner H et. al. (1991) A G protein-linked receptor for parathyroid hormone and parathyroid hormone-related peptide.

[^]
3.

Blomstrand S et. al. (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation.

[^]
4.

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.

[^]
5.

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

[^]
6.

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.

[^]
7.

Gelbert L et. al. (1994) Chromosomal localization of the parathyroid hormone/parathyroid hormone-related protein receptor gene to human chromosome 3p21.1-p24.2.

[^]
8.

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.

[^]
9.

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.

[^]
10.

McCuaig KA et. al. (1994) Molecular cloning of the gene encoding the mouse parathyroid hormone/parathyroid hormone-related peptide receptor.

[^]
11.

Schipani E et. al. (1993) Identical complementary deoxyribonucleic acids encode a human renal and bone parathyroid hormone (PTH)/PTH-related peptide receptor.

[^]
12.

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

[^]
13.

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.

[^]
14.

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

[^]
15.

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

[^]
16.

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.

[^]
17.

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

[^]
18.

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

[^]
19.

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

[^]
20.

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

[^]
21.

Karperien M et. al. (1999) A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia.

[^]
22.

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.

[^]
23.

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.

[^]
24.

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

[^]
25.

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.

[^]
26.

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

[^]
27.

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.

[^]
28.

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

[^]
29.

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

[^]
30.

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.

[^]
31.

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.

[^]
32.

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.

[^]
33.

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

[^]

 

 
Ihre Nachricht: