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1995 2
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Page 1
Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia.
Shimomura-Kuroki J, Farooq M, Sekimoto T, Amizuka N, Shimomura Y. Shimomura-Kuroki J, et al. Odontology. 2017 Apr;105(2):150-154. doi: 10.1007/s10266-016-0247-4. Epub 2016 May 9. Odontology. 2017. PMID: 27160269
Constitutive dimers of PTH1R are believed to be dissociated by ligand binding, and monomeric PTH1R is capable of activating G protein. Jansen type metaphyseal chondrodysplasia is caused by missense mutations in PTH1R, which are constitutively active ev …
Constitutive dimers of PTH1R are believed to be dissociated by ligand binding, and monomeric PTH1R is capable of activating G protein. Ja
A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia.
Schipani E, Kruse K, Jüppner H. Schipani E, et al. Science. 1995 Apr 7;268(5207):98-100. doi: 10.1126/science.7701349. Science. 1995. PMID: 7701349
A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related peptide (PTH-PTHrP) receptor was identified in a patient with Jansen-type metaphyseal chondrodysplasia, which changes a strict …
A single heterozygous nucleotide exchange in exon M2 of the gene encoding the parathyroid hormone-parathyroid hormone-related peptide (PTH-P …
Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method.
Minagawa M, Arakawa K, Takeuchi S, Minamitani K, Yasuda T, Niimi H. Minagawa M, et al. Endocr J. 1997 Aug;44(4):493-9. doi: 10.1507/endocrj.44.493. Endocr J. 1997. PMID: 9447281 Free article.
Jansen-type metaphyseal chondrodysplasia (JMC) has both delayed ossification in long bones and usually hypercalcemia. ...
Jansen-type metaphyseal chondrodysplasia (JMC) has both delayed ossification in long bones and usually hypercalc
Approach to the Child with Hypercalcaemia.
Davies JH. Davies JH. Endocr Dev. 2015;28:101-118. doi: 10.1159/000380998. Epub 2015 Jun 12. Endocr Dev. 2015. PMID: 26138838 Review.
Functional properties of the PTH/PTHrP receptor.
Jüppner H. Jüppner H. Bone. 1995 Aug;17(2 Suppl):39S-42S. doi: 10.1016/8756-3282(95)00206-s. Bone. 1995. PMID: 8579896 Review.
A mutation in the PTH/PTHrP receptor is, however, the most likely cause of Jansen-type metaphyseal chondrodysplasia, a rare form of short-limbed dwarfism which is associated with severe hypercalcemia despite normal or low levels of circulating PTH and …
A mutation in the PTH/PTHrP receptor is, however, the most likely cause of Jansen-type metaphyseal chondrodysplasia
Parathyroid hormone-related protein (PTHrP) as a regulating factor of endochondral bone formation.
Suda N. Suda N. Oral Dis. 1997 Dec;3(4):229-31. doi: 10.1111/j.1601-0825.1997.tb00046.x. Oral Dis. 1997. PMID: 9643217 Review.
A point mutation of PTH/PTHrP receptor is identified in a patient with Jansen-type metaphyseal chondrodysplasia and constitutive, ligand independent activation is indicated in this mutant receptor....
A point mutation of PTH/PTHrP receptor is identified in a patient with Jansen-type metaphyseal chondrodysplasia
18 results