Associated Papers
Jansen's Disease: Bone Abnormalities Beyond Chondrodysplasia.
Pereira RC et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Key Interaction Changes Determine the Activation Process of Human Parathyroid Hormone Type 1 Receptor.
Zhang Y et al.
Journal of the American Chemical Society, 2025
Human diseases caused by homozygous PTH1R mutations.
Portales-Castillo I et al.
Frontiers in Endocrinology, 2025
Primary failure of tooth eruption: Etiology and management.
Yamaguchi T et al.
The Japanese Dental Science Review, 2022
Functional Properties of Two Distinct PTH1R Mutants Associated With Either Skeletal Defects or Pseudohypoparathyroidism.
Portales-Castillo I et al.
Jbmr Plus, 2022
Severe hypertension-An infantile feature of Jansen metaphyseal chondrodysplasia?
Gabbett MT et al.
American Journal of Medical Genetics. Part A, 2020
Progression of Mineral Ion Abnormalities in Patients With Jansen Metaphyseal Chondrodysplasia.
Saito H et al.
The Journal of Clinical Endocrinology and Metabolism, 2018
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Rearrangement of a polar core provides a conserved mechanism for constitutive activation of class B G protein-coupled receptors.
Yin Y et al.
The Journal of Biological Chemistry, 2017
Skull Base and Cervical Spine Involvement in Jansen Syndrome: Case Report.
Khan R et al.
Pediatric Neurosurgery, 2017
A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi family.
Jelani M et al.
Archives of Oral Biology, 2016
Prenatal presentation and postnatal evolution of a patient with Jansen metaphyseal dysplasia with a novel missense mutation in PTH1R.
Savoldi G et al.
American Journal of Medical Genetics. Part A, 2013
A new form or a variant of SMD type A4.
Marik I et al.
Journal of Applied Genetics, 2012
Severe neonatal spondylometaphyseal dysplasia in two siblings.
Czarny-Ratajczak M et al.
American Journal of Medical Genetics. Part A, 2009
Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.
Tao YX
Pharmacology & Therapeutics, 2008
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
A mutant PTH/PTHrP type I receptor in enchondromatosis.
Hopyan S et al.
Nature Genetics, 2002
Characterization of the molecular motions of constitutively active G protein-coupled receptors for parathyroid hormone.
Rölz C et al.
Biophysical Chemistry, 2001
Cellular distribution of constitutively active mutant parathyroid hormone (PTH)/PTH-related protein receptors and regulation of cyclic adenosine 3',5'-monophosphate signaling by beta-arrestin2.
Ferrari SL et al.
Molecular Endocrinology (baltimore, Md.), 2001
The PTH/PTHrP receptor in Jansen's metaphyseal chondrodysplasia.
Calvi LM et al.
Journal of Endocrinological Investigation, 2000
Genetic disorders of calcium and phosphorus metabolism.
Root AW
Critical Reviews in Clinical Laboratory Sciences, 2000
Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia.
Schipani E et al.
The New England Journal of Medicine, 1996
Primary failure of eruption: From molecular diagnosis to therapeutic management.
Wagner D et al.
Journal of Oral Biology and Craniofacial Research, 0