Disease: Jansen type metaphyseal chondrodysplasia
- A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
- 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
- A new acro-osteolysis syndrome caused by duplications including PTHLH
- A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia
- A point mutation in the glucose-dependent insulinotropic peptide receptor confers constitutive activity
- Activated parathyroid hormone/parathyroid hormone-related protein receptor in osteoblastic cells differentially affects cortical and trabecular bone
- Activating mutations of the parathyroid hormone and parathyroid hormone related peptide
- An Inverse Agonist Ligand of the PTH Receptor Partially Rescues Skeletal Defects in a Mouse Model of Jansen's Metaphyseal Chondrodysplasia
- Approach to the Child with Hypercalcaemia
- Asphyxiating thoracic dysplasia as a complication of metaphyseal chondrodysplasia (Jansen type)
- Bcl-2 lies downstream of parathyroid hormone-related peptide in a signaling pathway that regulates chondrocyte maturation during skeletal development
- Characterization of a PTH1R missense mutation responsible for Jansen type metaphyseal chondrodysplasia
- Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia
- Coronavirus shuts down trials of drugs for multiple other diseases
- Cytokines in bone diseases. Genetic defects of PTH/PTHrP receptor in chondrodysplasia
- Deletion of Zfp521 rescues the growth plate phenotype in a mouse model of Jansen metaphyseal chondrodysplasia
- Functional properties of the PTH/PTHrP receptor
- Further clinical and radiological features in metaphyseal chondrodysplasia Jansen type
- Identification of a novel heterozygous PTH1R variant in a Chinese family with incomplete penetrance
- Inverse agonism of amino-terminally truncated parathyroid hormone (PTH) and PTH-related peptide (PTHrP) analogs revealed with constitutively active mutant PTH/PTHrP receptors
- Jansen Metaphyseal Chondrodysplasia due to Heterozygous H223R-PTH1R Mutations With or Without Overt Hypercalcemia
- Jansen-type metaphyseal chondrodysplasia: analysis of PTH/PTH-related protein receptor messenger RNA by the reverse transcriptase-polymerase chain method
- Metaphyseal chondrodysplasia as differential diagnosis to rickets
- Metaphyseal chondrodysplasia, type Jansen
- Nonparathyroid Hypercalcemia
- Parathyroid hormone receptors: from cloning to physiological, physiopathological and clinical implications
- Parathyroid hormone-related protein (PTHrP) as a regulating factor of endochondral bone formation
- Partial rescue of PTH/PTHrP receptor knockout mice by targeted expression of the Jansen transgene
- Potential effects of alendronate on fibroblast growth factor 23 levels and effective control of hypercalciuria in an adult with Jansen's metaphyseal chondrodysplasia
- Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R
- Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia
- PTHrP, PTH, and the PTH/PTHrP receptor in endochondral bone development
- Radiological diagnosis (and differential diagnosis) of lethal type (congenital type) of hypophosphatasia (author's transl)
- Rare Variant of PTH1R Mutation in an Indian Family
- Receptors for parathyroid hormone and parathyroid hormone-related peptide: from molecular cloning to definition of diseases
- Receptors for PTH and PTHrP: their biological importance and functional properties
- Role of parathyroid hormone-related peptide and Indian hedgehog in skeletal development
- Salt-inducible kinases dictate parathyroid hormone 1 receptor action in bone development and remodeling
- Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?
- Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report
- Some chondrodysplasias with short limbs: molecular perspectives
- Targeted expression of constitutively active receptors for parathyroid hormone and parathyroid hormone-related peptide delays endochondral bone formation and rescues mice that lack parathyroid hormone-related peptide
- The cyclin D1 and cyclin A genes are targets of activated PTH/PTHrP receptors in Jansen's metaphyseal chondrodysplasia
- The Jansen type of metaphyseal chondrodysplasia: confirmation of dominant inheritance and review of radiographic manifestations in the newborn and adult
- The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia
- The PTH/PTHrP receptor: biological implications
- The skull in metaphyseal chondrodysplasia type Jansen
- Two unusual cases of nephrocalcinosis in infancy