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Article

[Activating mutations of the parathyroid hormone and parathyroid hormone related peptide].

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie - 1 Jan 1998

David L

Abstract excerpt

Parathyroid hormone (PTH) and PTH related peptide (PTHrP) have a common main receptor: type I PTH-PTHrP receptor. PTH expresses its main metabolic actions, and PTHrP part of its autocrine or paracrine actions through this receptor. Jansen chondrodysplasia is a very rare disease mainly characterized by severe metaphyseal growth disorders leading to dwarfism and hypercalcemia. The group of Jüppner from the...

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Identifiers

PMID: 9853089
DOI: 10.1016/s0929-693x(99)80196-1

Genes

PTH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Activating mutations of the parathyroid hormone and parathyroid hormone related peptide].PMID 9853089Read ↗

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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.Semantic proximity Read ↗

[Molecular defects in hormone receptors and G proteins in human disorders].Semantic proximity Read ↗

Receptors for parathyroid hormone and parathyroid hormone-related peptide: from molecular cloning to definition of diseases.Semantic proximity Read ↗

Human diseases caused by homozygous PTH1R mutations.Semantic proximity Read ↗

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[Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia].Semantic proximity Read ↗

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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 ChondrodysplasiaSemantic proximity Read ↗

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